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searching for Ataxia 267 found (1921 total)

alternate case: ataxia

Ataxia (band) (335 words) [view diff] exact match in snippet view article

Ataxia was a short-lived American experimental rock supergroup formed in 2004 by guitarist John Frusciante (Red Hot Chili Peppers), bassist Joe Lally (Fugazi)
Cav2.1 (1,794 words) [view diff] exact match in snippet view article find links to article
disorders, including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. "Voltage-dependent calcium channels mediate the
ATM serine/threonine kinase (5,030 words) [view diff] exact match in snippet view article find links to article
ATM since he found that its mutations are responsible for the disorder ataxia–telangiectasia. In 1998, the Shiloh and Kastan laboratories independently
Ataxia (album) (367 words) [view diff] exact match in snippet view article
Ataxia is the sixth studio album released by alternative / psychedelic-rock band Circus Devils on October 31, 2008. All songs on Ataxia were written and
Inward-rectifier potassium channel (1,973 words) [view diff] exact match in snippet view article find links to article
Stanescu HC, Bandulik S, Zdebik AA, Reichold M, et al. (May 2009). "Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations". The New England
Finnish Hound (383 words) [view diff] exact match in snippet view article find links to article
average shedders. Finnish Hounds suffer from an inherited disease, cerebellar ataxia, forcing people to euthanize many puppies. This has been traced to a single
Aniridia (886 words) [view diff] exact match in snippet view article find links to article
anomalies and intellectual disability), or Gillespie syndrome (cerebellar ataxia). The AN2 region of the short arm of chromosome 11 (11p13) includes the
Ataxia telangiectasia and Rad3 related (3,353 words) [view diff] exact match in snippet view article find links to article
Serine/threonine-protein kinase ATR also known as ataxia telangiectasia and Rad3-related protein (ATR) or FRAP-related protein 1 (FRP1) is an enzyme that
Carnivore protoparvovirus 1 (3,407 words) [view diff] no match in snippet view article find links to article
Carnivore protoparvovirus 1 (CPPV 1) is a species of parvovirus that infects carnivorans. It causes a highly contagious disease in both dogs and cats.
Frataxin (2,709 words) [view diff] exact match in snippet view article find links to article
storage protein. Reduced expression of frataxin is the cause of Friedreich's ataxia. X-ray crystallography has shown that human frataxin consists of a β-sheet
Huda Zoghbi (3,610 words) [view diff] exact match in snippet view article find links to article
devastating neurological disorders, such as Rett syndrome and Spinocerebellar ataxia type 1. Zoghbi's discoveries have provided new ways of thinking about other
Acetergamine (89 words) [view diff] exact match in snippet view article find links to article
investigated as a treatment for cerebellar ataxia. Ogawa, M (2004). "Pharmacological treatments of cerebellar ataxia". Cerebellum. London). 3 (2): 107–11.
Pyruvate carboxylase deficiency (734 words) [view diff] no match in snippet view article find links to article
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood. High levels of these substances can damage
Trinucleotide repeat disorder (1,648 words) [view diff] exact match in snippet view article find links to article
myotonic dystrophy, two of the spinocerebellar ataxias, juvenile myoclonic epilepsy, and Friedreich's ataxia. These diseases are characterized by typically
VLDLR-associated cerebellar hypoplasia (224 words) [view diff] no match in snippet view article find links to article
VLDLR-associated cerebellar hypoplasia (VLDLRCH) is a rare autosomal recessive condition caused by a disruption of the VLDLR gene. First described as a
Harding ataxia (452 words) [view diff] exact match in snippet view article find links to article
Harding ataxia is an autosomal recessive cerebellar ataxia originally described by Harding in 1981. This form of cerebellar ataxia is similar to Friedreich
Erythrokeratodermia with ataxia (52 words) [view diff] exact match in snippet view article find links to article
Erythrokeratodermia with ataxia is a condition characterized by erythematous, hyperkeratotic plaques with fine, white, attached scales distributed almost
KCNC3 (654 words) [view diff] exact match in snippet view article find links to article
permeability of excitable membranes. KCNC3 is associated with spinocerebellar ataxia type 13. Voltage-gated potassium channel GRCh38: Ensembl release 89: ENSG00000131398
Kv1.1 (2,125 words) [view diff] exact match in snippet view article find links to article
voltage-gated K+ channel HuKI and AEMK (associated with myokymia with periodic ataxia). The protein is believed to have six domains (S1-S6) with the loop between
AW II (331 words) [view diff] exact match in snippet view article find links to article
AW II is the second studio album by Ataxia, released on May 29, 2007 on Record Collection. The album is the second half of the band's sole recording session
Familial isolated vitamin E deficiency (243 words) [view diff] exact match in snippet view article find links to article
neurodegenerative disease. Symptoms are similar to those of Friedreich ataxia. Familial isolated vitamin E deficiency is caused by mutations in the gene
Ataxin 7 (495 words) [view diff] exact match in snippet view article find links to article
poly(Q) motif region in the protein contributes crucially to spinocerebellar ataxia (SCA) pathogenesis by the induction of intranuclear inclusion bodies. ATXN7
Aprataxin (1,508 words) [view diff] exact match in snippet view article find links to article
single-stranded DNA repair. Mutations in this gene have been associated with ataxia–ocular apraxia. Multiple transcript variants encoding distinct isoforms
Oxotremorine (154 words) [view diff] exact match in snippet view article find links to article
selective muscarinic acetylcholine receptor agonist. Oxotremorine produces ataxia, tremor and spasticity, similar to those symptoms seen in Parkinsonism,
Erythrokeratodermia (28 words) [view diff] exact match in snippet view article find links to article
Types include: Erythrokeratodermia variabilis Erythrokeratodermia with ataxia Progressive symmetric erythrokeratodermia "Erythrokeratoderma - DermNet
Thymic hypoplasia (42 words) [view diff] exact match in snippet view article find links to article
following two conditions associated with thymic hypoplasia: 22q11.2 deletion syndrome: hypocalcemia Ataxia telangiectasia: normal levels of calcium v t e
FG-8205 (268 words) [view diff] exact match in snippet view article find links to article
it has anxiolytic and anticonvulsant effects but with little sedation or ataxia produced. Benzodiazepine Watjen F, Baker R, Engelstoff M, Herbert R, MacLeod
PRKCG (523 words) [view diff] exact match in snippet view article find links to article
protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). PRKCG has been shown to interact with GRIA4. Protein kinase
Hyporeflexia (291 words) [view diff] exact match in snippet view article find links to article
symptoms of benzodiazepine intoxication include confusion, slurred speech, ataxia, drowsiness, dyspnea, and hyporeflexia). Diseases associated with hyporeflexia
Progressive myoclonus epilepsy (2,000 words) [view diff] exact match in snippet view article find links to article
decreases and can lead to myopathy, neuropathy, cognitive decline, cerebellar ataxia, and dementia. The different symptoms in each of the PME and between individuals
Mohr–Tranebjærg syndrome (1,138 words) [view diff] exact match in snippet view article find links to article
onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th
Automatic Writing (album) (347 words) [view diff] exact match in snippet view article
studio album by American experimental rock band Ataxia, released on August 10, 2004 on Record Collection. Ataxia consisted of Red Hot Chili Peppers guitarist
Tyrosinemia type III (157 words) [view diff] exact match in snippet view article find links to article
seizures, and periodic loss of balance and coordination (intermittent ataxia). Type III tyrosinemia is very rare; only a few cases have been reported
Bruns apraxia (793 words) [view diff] exact match in snippet view article find links to article
Bruns apraxia, or frontal ataxia, is a gait apraxia found in patients with bilateral frontal lobe disorders. It is characterised by an inability to initiate
Anthoxanthum (460 words) [view diff] exact match in snippet view article find links to article
Anthoxanthinae A.Gray Genus: Anthoxanthum L. Type species Anthoxanthum odoratum L. Synonyms Ataxia R.Br. Flavia Heist. ex Fabr. Xanthonanthos St.-Lag.
T36 (classification) (1,221 words) [view diff] exact match in snippet view article
It includes people who have coordination impairments such as hypertonia, ataxia and athetosis. It includes people with cerebral palsy. T36 is used by the
Tabes dorsalis (782 words) [view diff] exact match in snippet view article find links to article
nerve root pain which is aggravated by coughing, and features of sensory ataxia with ocular involvement. Signs and symptoms may not appear for decades after
Rubicon (protein) (1,588 words) [view diff] exact match in snippet view article
ataxia (OMIM ID: 615705). Salih ataxia (also known as spinocerebellar ataxia, autosomal recessive 15 or SCAR15) is a form of spinocerebellar ataxia characterized
DNA ligase (2,781 words) [view diff] exact match in snippet view article find links to article
problems involving the nervous system. Mutations in the ATM gene cause ataxia–telangiectasia. The ATM gene provides instructions for making a protein
Alpha-tocopherol transfer protein (906 words) [view diff] exact match in snippet view article find links to article
F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M (1995). "Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol
MIND Institute (1,074 words) [view diff] no match in snippet view article find links to article
The UC Davis MIND Institute (Medical Investigation of Neurodevelopmental Disorders) research and treatment center affiliated with the University of California
Cycling at the 2020 Summer Paralympics – Men's road race C1–3 (145 words) [view diff] exact match in snippet view article find links to article
or ataxia; bilateral through knee amputation, etcetera. C2: cyclists with moderate hemiplegic or diplegic spasticity; moderate athetosis or ataxia; unilateral
Cycling at the 2020 Summer Paralympics – Women's road time trial C1–3 (154 words) [view diff] exact match in snippet view article find links to article
or ataxia; bilateral through knee amputation, etcetera. C2: cyclists with moderate hemiplegic or diplegic spasticity; moderate athetosis or ataxia; unilateral
DNAJC19 (1,244 words) [view diff] exact match in snippet view article find links to article
mitochondrial morphogenesis, and has been implicated in dilated cardiomyopathy with ataxia. The DNAJC19 gene is located on the q arm of chromosome 3 at position 26
Cycling at the 2020 Summer Paralympics – Women's road race C1–3 (135 words) [view diff] exact match in snippet view article find links to article
or ataxia; bilateral through knee amputation, etcetera. C2: cyclists with moderate hemiplegic or diplegic spasticity; moderate athetosis or ataxia; unilateral
ABCB7 (849 words) [view diff] exact match in snippet view article find links to article
in this gene have been implicated in X-linked sideroblastic anemia with ataxia. ABCB7 has been shown to interact with Ferrochelatase. ATP-binding cassette
Etifoxine (963 words) [view diff] exact match in snippet view article find links to article
approximately 40 countries for anxiety disorders, without the sedation and ataxia associated with benzodiazepine drugs. It has similar anxiolytic effects
Dysarthria (1,986 words) [view diff] exact match in snippet view article find links to article
sclerosis, Huntington's disease, Niemann-Pick disease, and Friedreich's ataxia.[citation needed] Toxic and metabolic conditions include: Wilson's disease
Biemond syndrome (109 words) [view diff] exact match in snippet view article find links to article
disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and intellectual disability. The family described by Biemond had a few members
GRID2 (2,147 words) [view diff] exact match in snippet view article find links to article
ataxia, frontotemporal dementia, and lower motor neuron involvement whereas a homozygous biallelic deletion leads to a syndrome of cerebellar ataxia with
Barbiturate dependence (560 words) [view diff] exact match in snippet view article find links to article
signs include hypomimia, problems articulating, weakening of reflexes, and ataxia. The GABAA receptor, one of barbiturates' main sites of action, is thought
John Frusciante discography (1,171 words) [view diff] exact match in snippet view article find links to article
albums with collaborators Joe Lally and Josh Klinghoffer under the name Ataxia and two EPs and three studio albums under the alias of Trickfinger. After
CA8 (660 words) [view diff] exact match in snippet view article find links to article
anhydrase enzymes. A rare, autosomal recessive form of cerebellar ataxia known as "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" (CAMRQ3)
DeSanctis–Cacchione syndrome (204 words) [view diff] exact match in snippet view article find links to article
disability, slowed growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis. In at least some case, the gene lesion involves a mutation
Anaphe venata (396 words) [view diff] exact match in snippet view article find links to article
This type of B1 deficiency has been called "African (Nigerian) Seasonal Ataxia" (ASA), as A. venata larvae are available as food source for about four
Epstein–Barr virus infection (1,849 words) [view diff] exact match in snippet view article find links to article
childhood disorders of Alice in Wonderland Syndrome and acute cerebellar ataxia. Symptoms of infectious mononucleosis are fever, sore throat, and swollen
Autosomal recessive cerebellar ataxia (426 words) [view diff] exact match in snippet view article find links to article
phenotype involving cerebellar ataxia. It may refer to: Autosomal recessive cerebellar ataxia type 1, a.k.a. autosomal recessive ataxia, Beauce type Autosomal
Hypertrophic cardiomyopathy (7,565 words) [view diff] exact match in snippet view article find links to article
of left ventricular hypertrophy may include Fabry disease, Friedreich's ataxia, and certain medications such as tacrolimus. Other considerations for causes
ITPR1 (1,655 words) [view diff] exact match in snippet view article find links to article
Singleton AB (Jun 2007). "Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans". PLOS Genetics. 3 (6): e108. doi:10.1371/journal
Ataxin 1 (1,985 words) [view diff] exact match in snippet view article find links to article
encoded by the ATXN1 gene. Mutations in ataxin-1 cause spinocerebellar ataxia type 1, an inherited neurodegenerative disease characterized by a progressive
Hypertrophic cardiomyopathy (7,565 words) [view diff] exact match in snippet view article find links to article
of left ventricular hypertrophy may include Fabry disease, Friedreich's ataxia, and certain medications such as tacrolimus. Other considerations for causes
Acetylleucine (449 words) [view diff] exact match in snippet view article find links to article
is a modified amino acid used in the treatment of vertigo and cerebellar ataxia. Acetylleucine is also being developed as a possible treatment for several
SPTBN2 (755 words) [view diff] exact match in snippet view article find links to article
SPTBN2 gene. Mutations in this gene is associated with Spinocerebellar ataxia type 5. SPTBN2 has been shown to interact with: ACTR1A, Beta-actin, and
Chromosome instability syndrome (358 words) [view diff] exact match in snippet view article find links to article
malignancies. The following chromosome instability syndromes are known: Ataxia telangiectasia Ataxia telangiectasia-like disorder Bloom syndrome Fanconi anaemia Nijmegen
Kearns–Sayre syndrome (2,629 words) [view diff] exact match in snippet view article find links to article
cardiac conduction abnormalities. Other symptoms may include cerebellar ataxia, proximal muscle weakness, deafness, diabetes mellitus, growth hormone deficiency
Spastic ataxia-corneal dystrophy syndrome (215 words) [view diff] exact match in snippet view article find links to article
Spastic ataxia-corneal dystrophy syndrome (also known as Bedouin spastic ataxia syndrome) is an autosomally resessive disease. It has been found in an
Jayme Richardson (376 words) [view diff] exact match in snippet view article find links to article
cyclist. She was born in the Sydney suburb of Blacktown with cerebellar ataxia due to asphyxiation at birth. She began cycling in October 2004 after seeing
Australia Paralympic soccer team (1,695 words) [view diff] exact match in snippet view article find links to article
IFCPF rankings. The team consists of neurologically impaired athletes with ataxia, hypertonia or athetosis, playing a similar formatted game to Association
RFC1 (2,249 words) [view diff] exact match in snippet view article find links to article
sequences) in the replication factor C subunit 1 (RFC1) gene causes cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). Within the poly(A)
ATXN8OS (746 words) [view diff] exact match in snippet view article find links to article
incorporated into the SCA8 but not the KLHL1 transcript causes spinocerebellar ataxia type 8. When the CTG expansion is present, a polyglutamine mutant protein
T33 (classification) (2,088 words) [view diff] exact match in snippet view article
difficulty with forward trunk movement. They also may have hypertonia, ataxia and athetosis. This classification is for disability athletics. This classification
Embryonal tumour with multilayered rosettes (821 words) [view diff] exact match in snippet view article find links to article
include raised intracranial pressure, paresis, seizures, visual impairments, ataxia, and torticollis. A biopsy is needed to establish diagnosis, which is done
Friedreich's Ataxia Research Alliance (285 words) [view diff] exact match in snippet view article find links to article
Friedreich's Ataxia Research Alliance (FARA) is a 501(c)(3), non-profit, tax-exempt organization formed to support the research on Friedreich's ataxia. It was
United States men's Paralympic soccer team (1,312 words) [view diff] exact match in snippet view article find links to article
Hemiplegia, Triplegia, Quadriplegia, Monoplegia, Dystonia, Athetosis, Ataxia, Balance issues, Co-ordination issues, Weakness in certain areas of the
Trinucleotide repeat expansion (7,972 words) [view diff] exact match in snippet view article find links to article
are fragile X syndrome, several spinocerebellar ataxias, myotonic dystrophy and Friedreich's ataxia. The first documentation of anticipation in genetic
Cycling at the 2020 Summer Paralympics – Men's road time trial C1 (96 words) [view diff] exact match in snippet view article find links to article
cyclists with severe hemiplegic or diplegic spasticity; severe athetosis or ataxia; bilateral through knee amputation, etcetera. The event took place on 31
Sacsin (949 words) [view diff] exact match in snippet view article find links to article
recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and
Bram Stoker (3,844 words) [view diff] exact match in snippet view article find links to article
inspiration for writing Dracula. He died on April 20, 1912 due to Locomotor ataxia and was cremated in north London. Since his death, his magnum opus Dracula
Synaptotagmin-14 (321 words) [view diff] exact match in snippet view article find links to article
this gene have been shown to cause autosomal recessive spinocerebellar ataxia with psychomotor retardation. GRCh38: Ensembl release 89: ENSG00000143469
Parietal lobe (2,225 words) [view diff] exact match in snippet view article find links to article
with large deficits of attention of the non-dominant hemisphere. Optic ataxia is associated with difficulties reaching toward objects in the visual field
Cycling at the 2020 Summer Paralympics – Men's road time trial C2 (98 words) [view diff] exact match in snippet view article find links to article
with moderate hemiplegic or diplegic spasticity; moderate athetosis or ataxia; unilateral above knee amputation, etcetera. The event took place on 31
Ataxin 3 (1,537 words) [view diff] exact match in snippet view article find links to article
by the ATXN3 gene. Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by
TTBK2 (675 words) [view diff] exact match in snippet view article find links to article
this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and
Cycling at the 2020 Summer Paralympics – Men's road time trial C3 (101 words) [view diff] exact match in snippet view article find links to article
with moderate hemiplegic or diplegic spasticity; moderate athetosis or ataxia; bilateral below knee or unilateral through knee amputation, etcetera. The
PLEKHG4 (641 words) [view diff] exact match in snippet view article find links to article
gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population". J Hum Genet. 51 (4): 363–7. doi:10.1007/s10038-006-0372-y
Omaveloxolone (488 words) [view diff] exact match in snippet view article find links to article
clinical investigation for a variety of indications, including Friedreich’s ataxia, mitochondrial myopathies, immunooncology, and prevention of corneal endothelial
SETX (1,816 words) [view diff] exact match in snippet view article find links to article
et al. (November 2000). "Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34"
Record Collection (record label) (569 words) [view diff] exact match in snippet view article
One album, Automatic Writing (album), was released under the band name Ataxia (which was composed of Frusciante, Joe Lally and Josh Klinghoffer). The
Taltirelin (463 words) [view diff] exact match in snippet view article find links to article
Taltirelin is primarily being researched for the treatment of spinocerebellar ataxia; limited research has also been carried out with regard to other neurodegenerative
Cycling at the 2020 Summer Paralympics – Women's road race C4–5 (131 words) [view diff] exact match in snippet view article find links to article
cyclists with mild hemiplegic or diplegic spasticity; mild athetosis or ataxia; unilateral below-knee or bilateral below elbow amputation, etc. tetraplegics
Polyglutamine tract (448 words) [view diff] exact match in snippet view article find links to article
long. Important examples of polyglutamine diseases are spinocerebellar ataxia and Huntington's disease. Trinucleotide repeat expansion occurring in a
Para-cycling classification (2,334 words) [view diff] exact match in snippet view article find links to article
athetosis or ataxia; bilateral through knee amputation, etc. C2: moderate hemiplegic or diplegic spasticity; moderate athetosis or ataxia; unilateral above
AFG3L2 (642 words) [view diff] exact match in snippet view article find links to article
hereditary spastic paraplegias or neurodegenerative disorders as well as spastic ataxia-neuropathy syndrome. GRCh38: Ensembl release 89: ENSG00000141385 - Ensembl
Aya Kitō (623 words) [view diff] exact match in snippet view article find links to article
diarist. She wrote about her personal experiences living with spinocerebellar ataxia which was later published in the book 1 Litre no Namida. The book has been
TRIM29 (989 words) [view diff] exact match in snippet view article find links to article
function in the suppression of radiosensitivity since it is associated with ataxia–telangiectasia phenotype. TRIM29 has been shown to interact with TRIM23
Autophosphorylation (2,321 words) [view diff] no match in snippet view article find links to article
Autophosphorylation is a type of post-translational modification of proteins. It is generally defined as the phosphorylation of the kinase by itself. In
GOSR2-related progressive myoclonus ataxia (345 words) [view diff] exact match in snippet view article find links to article
progressive myoclonus ataxia, also known as Progressive myoclonic epilepsy type 6 is a rare genetic type of progressive myoclonus ataxia which is characterized
Posterior thoracic nucleus (522 words) [view diff] exact match in snippet view article find links to article
dorsal spinocerebellar tract. It has been observed that in Friedreich's ataxia there is evident degeneration of the posterior thoracic nucleus as well
Dysequilibrium syndrome (119 words) [view diff] exact match in snippet view article find links to article
refer to: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 (CAMRQ1), an autosomal recessive cerebellar ataxia associated with the VLDLR
Synaptopathy (741 words) [view diff] exact match in snippet view article find links to article
mutations are also known as synaptic channelopathies. An example is episodic ataxia. Myasthenia gravis is an example of an autoimmune synaptopathy. Some toxins
Cycling at the 2020 Summer Paralympics – Men's road time trial C4 (100 words) [view diff] exact match in snippet view article find links to article
cyclists with mild hemiplegic or diplegic spasticity; mild athetosis or ataxia; unilateral below knee or bilateral below elbow amputation, etcetera. The
PIP5K1B (423 words) [view diff] exact match in snippet view article find links to article
PIP5K1B gene contributes to the cytoskeletal defects seen in Friedreich's ataxia. GRCh38: Ensembl release 89: ENSG00000107242 - Ensembl, May 2017 GRCm38:
Cycling at the 2020 Summer Paralympics – Women's road time trial C4 (100 words) [view diff] exact match in snippet view article find links to article
cyclists with mild hemiplegic or diplegic spasticity; mild athetosis or ataxia; unilateral below knee or bilateral below elbow amputation, etcetera. The
Jean-Louis Mandel (1,981 words) [view diff] exact match in snippet view article find links to article
disease and four other dominant ataxias, which led to the identification of genes involved in the spinocerebellar ataxias SCA2 and SCA7 (Trottier et al
Vitamin E deficiency (646 words) [view diff] exact match in snippet view article find links to article
include the following: Neuromuscular problems – such as spinocerebellar ataxia and myopathies. Neurological problems – may include dysarthria, absence
TATA box (4,783 words) [view diff] exact match in snippet view article find links to article
with mutations in the TATA box include gastric cancer, spinocerebellar ataxia, Huntington's disease, blindness, β-thalassemia, immunosuppression, Gilbert's
Genome instability (4,543 words) [view diff] exact match in snippet view article find links to article
fragile X mental retardation syndrome, myotonic dystrophy, Friedrich’s ataxia, and Huntington’s disease, most of which are caused by expansion of repeats
Epstein–Barr virus (5,424 words) [view diff] exact match in snippet view article find links to article
childhood disorders of Alice in Wonderland syndrome and acute cerebellar ataxia and, based on some evidence, higher risks of developing certain autoimmune
Cycling at the 2016 Summer Paralympics – Men's road time trial H2 (178 words) [view diff] exact match in snippet view article find links to article
is specifically for athletes with tetraplegia C7/C8 and severe athetosis/ataxia/dystonia, and tetraplegics with impairments corresponding to a complete
Di-deuterated linoleic acid ethyl ester (687 words) [view diff] exact match in snippet view article find links to article
comparator-controlled Phase I/II clinical trial for Friedreich's ataxia, sponsored by Retrotope and Friedreich's Ataxia Research Alliance, was conducted to determine the
TOP2A (623 words) [view diff] exact match in snippet view article find links to article
[citation needed] Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. TOP2A has been shown to interact with SMURF2, HDAC1, CDC5L
Piezocera (97 words) [view diff] exact match in snippet view article find links to article
Piezocera aenea (Bates, 1867) Piezocera araujosilvai Melzer, 1935 Piezocera ataxia Martins, 1976 Piezocera bivittata Audinet-Serville, 1834 Piezocera costula
H3 (classification) (608 words) [view diff] exact match in snippet view article
quadriplegia with/without athetosis/ataxia Severe hemiplegia (non-ambulant) Severe diplegia (non-ambulant) and athetosis/ataxia Neurological impairments with
Cycling at the 2016 Summer Paralympics – Men's road time trial H2 (178 words) [view diff] exact match in snippet view article find links to article
is specifically for athletes with tetraplegia C7/C8 and severe athetosis/ataxia/dystonia, and tetraplegics with impairments corresponding to a complete
The Cake Eaters (971 words) [view diff] exact match in snippet view article find links to article
Kristen Stewart is featured as Georgia, a young girl with Friedreich's ataxia, a rare disease for which there is no cure. The Cake Eaters is a small-town
Enaptin (511 words) [view diff] exact match in snippet view article find links to article
autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. GRCh38: Ensembl release
Agnidra ataxia (111 words) [view diff] exact match in snippet view article find links to article
Agnidra ataxia is a moth in the family Drepanidae. It was described by Hong-Fu Chu and Lin-Yao Wang in 1988. It is found in Yunnan, China. The length of
Cycling at the 2020 Summer Paralympics – Men's road race C4–5 (129 words) [view diff] exact match in snippet view article find links to article
cyclists with mild hemiplegic or diplegic spasticity; mild athetosis or ataxia; unilateral below-knee or bilateral below elbow amputation, etc. tetraplegics
Mir-19 microRNA precursor family (3,165 words) [view diff] no match in snippet view article find links to article
There are 89 known sequences today in the microRNA 19 (miR-19) family but it will change quickly. They are found in a large number of vertebrate species
EIF2B1 (1,002 words) [view diff] exact match in snippet view article find links to article
A, Boespflug-Tanguy O, Bertini E (2003). "A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy
Kyle Bryant (789 words) [view diff] exact match in snippet view article find links to article
spokesperson for the Friedreich's Ataxia Research Alliance (FARA). Bryant is the founder and event director of rideATAXIA – a nationwide bike ride fundraiser
PPP2R2B (942 words) [view diff] exact match in snippet view article find links to article
of this gene may cause a rare form of autosomal dominant spinocerebellar ataxia 12. GRCh38: Ensembl release 89: ENSG00000156475 - Ensembl, May 2017 GRCm38:
Lymphoproliferative disorders (765 words) [view diff] exact match in snippet view article find links to article
syndrome (an X-linked recessive disorder), and ataxia–telangiectasia.[citation needed] Even though ataxia telangiectasia is an autosomal recessive disorder
Pyruvate dehydrogenase deficiency (1,749 words) [view diff] exact match in snippet view article find links to article
there is a reduction in the frequency of seizures, abnormal EEG readings, ataxia and abnormal sleeping patterns, and extension of remission periods. More
List of MeSH codes (C20) (1,840 words) [view diff] no match in snippet view article
The following is a partial list of the "C" codes for Medical Subject Headings (MeSH), as defined by the United States National Library of Medicine (NLM)
H2 (classification) (536 words) [view diff] exact match in snippet view article
Internationale (UCI) defines H2 as: Tetraplegia C7/C8 and severe athetosis/ataxia/dystonia Tetraplegic with impairments corresponding to a complete cervical
EIF2B2 (1,109 words) [view diff] exact match in snippet view article find links to article
A, Boespflug-Tanguy O, Bertini E (2003). "A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy
Anticipation (genetics) (706 words) [view diff] exact match in snippet view article
(telomere repeat sequence) Autosomal recessive Friedreich ataxia – GAA (Note: Friedreich ataxia does not usually exhibit anticipation because it is an autosomal
Exonic splicing silencer (856 words) [view diff] exact match in snippet view article find links to article
binding sequences on exon 7. Mutations in the ATM gene are responsible for Ataxia telangiecstasia. These mutations are generally single base pair substitutions
Pteropliini (668 words) [view diff] exact match in snippet view article find links to article
1893 Anaches Pascoe, 1865 Anobrium Belon, 1902 Aprophata Pascoe, 1862 Ataxia Haldeman, 1847 Atybe Pascoe, 1864 Baraeus Thomson, 1858 Batrachorhina Chevrolat
List of OMIM disorder codes (18,861 words) [view diff] exact match in snippet view article find links to article
Spinocerebellar ataxia 12; 604326; PPP2R2B Spinocerebellar ataxia 14; 605361; PRKCG Spinocerebellar ataxia 15; 606658; ITPR1 Spinocerebellar ataxia 17; 607136;
Foot drop (2,473 words) [view diff] exact match in snippet view article find links to article
paraplegia, Guillain–Barré syndrome, Welander distal myopathy, Friedreich's ataxia and Chronic Compartment Syndrome. It may also occur as a result of hip replacement
Interferon gamma (5,049 words) [view diff] exact match in snippet view article find links to article
2021. Preliminary research on the role of IFN-γ in treating Friedreich's ataxia (FA) conducted by Children’s Hospital of Philadelphia has found no beneficial
Paratriathlon at the 2016 Summer Paralympics (386 words) [view diff] exact match in snippet view article find links to article
mobility impairments such as muscle power, limb deficiency, hypertonia, ataxia or athetosis that have a classification assessment score from 455,0 to 494
Interferon gamma (5,049 words) [view diff] exact match in snippet view article find links to article
2021. Preliminary research on the role of IFN-γ in treating Friedreich's ataxia (FA) conducted by Children’s Hospital of Philadelphia has found no beneficial
Circus Devils (491 words) [view diff] exact match in snippet view article find links to article
Harold Pig Memorial (2002) Pinball Mars (2003) Five (2005) Sgt. Disco (2007) Ataxia (2008) Gringo (2009) Mother Skinny (2010) Capsized! (2011) When Machines
ELOVL4 (2,084 words) [view diff] exact match in snippet view article find links to article
Autosomal Dominant Stargardt-like Macular Dystrophy (STGD3), Spinocerebellar Ataxia-34 (SCA34), skin deformities and seizures. Stargardt disease GRCh38: Ensembl
Invade (Within the Ruins album) (1,070 words) [view diff] exact match in snippet view article
the "Ataxia" instrumental series. Newer installments of the song would appear on the band's subsequent studio albums ever since. Speaking on "Ataxia" in
X-linked sideroblastic anemia and spinocerebellar ataxia (343 words) [view diff] exact match in snippet view article find links to article
spinocerebellar ataxia is a very rare genetic disorder which is characterized by mild sideroblastic anemia, and spinocerebellar ataxia that either doesn't
Piezocera ataxia (46 words) [view diff] exact match in snippet view article find links to article
Piezocera ataxia is a species of beetle in the family Cerambycidae. It was described by Martins in 1976. Bezark, Larry G. A Photographic Catalog of the
Mihai Ioan Botez (966 words) [view diff] exact match in snippet view article find links to article
cerebellum on cognition, including patients with spinocerebellar ataxia, Friedreich's ataxia, and mice with spontaneous mutations causing cerebellar damage
PRKACG (965 words) [view diff] exact match in snippet view article find links to article
C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14". Arch. Neurol. 61 (8): 1242–8. doi:10.1001/archneur.61.8.1242.
Retrotope (1,029 words) [view diff] exact match in snippet view article find links to article
has passed Phase I/II clinical trial for the treatment of Friedreich's ataxia (FA), in which RT001 was shown to be safe, well tolerated and beneficial
Penicillium crustosum (347 words) [view diff] exact match in snippet view article find links to article
as tremors. In dogs, symptoms can include vomiting, convulsion, tremors, ataxia, and tachycardia. MycoBank Alexopolous, C.J.; Mims, Charles W.; Blackwell
Degenerative disease (1,603 words) [view diff] exact match in snippet view article find links to article
Ehlers–Danlos syndrome Fibrodysplasia ossificans progressiva Friedreich's ataxia Frontotemporal dementia (FTD) Some cardiovascular diseases (e.g. atherosclerotic
ATXN2L (760 words) [view diff] exact match in snippet view article find links to article
protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative
Elke Philipp (164 words) [view diff] exact match in snippet view article find links to article
February, 1964) is a German Paralympic equestrian. Philipp has had cerebellar ataxia since 1984 when she suffered from a swelling of the brain due to Viral meningitis
Kuru (disease) (3,218 words) [view diff] exact match in snippet view article
ultimately lead to death. It is characterized by progressive cerebellar ataxia, or loss of coordination and control over muscle movements. The preclinical
Kuru (disease) (3,218 words) [view diff] exact match in snippet view article
ultimately lead to death. It is characterized by progressive cerebellar ataxia, or loss of coordination and control over muscle movements. The preclinical
Histone deacetylase (3,323 words) [view diff] exact match in snippet view article find links to article
recombinational DNA repair, and also show reduced interaction with HDAC1. Ataxia-telangiectasia is due to mutation in the Atm gene. Wild-type Atm encodes
Etravirine (853 words) [view diff] exact match in snippet view article find links to article
frataxin production. Frataxin deficiency is a key component to Friedreich's ataxia, a genetically inherited disease that causes the progressive loss of coordination
Bromisoval (313 words) [view diff] exact match in snippet view article find links to article
"Chronic bromvalerylurea intoxication: Dystonic posture and cerebellar ataxia due to nonsteroidal anti-inflammatory drug abuse" (pdf). Internal Medicine
Mitochondrial disease (3,213 words) [view diff] exact match in snippet view article find links to article
altered states of consciousness, dementia, ventilatory failure Neuropathy, ataxia, retinitis pigmentosa, and ptosis (NARP) progressive symptoms as described
Kyphoscoliosis (1,562 words) [view diff] exact match in snippet view article find links to article
especially in young patients. It can also be seen in syringomyelia, Friedreich's ataxia, spina bifida, kyphoscoliotic Ehlers–Danlos syndrome (kEDS), and Duchenne
MT-TE (990 words) [view diff] exact match in snippet view article find links to article
showed phenotypes of congenital myopathy, mental retardation, cerebellar ataxia, and diabetes mellitus. Another patient with the same mutation was found
Multisystem proteinopathy (492 words) [view diff] exact match in snippet view article find links to article
ALS to include motor neuron disease, Parkinson’s disease features, and ataxia features. Although MSP is rare, growing interest in this syndrome derives
Ataxia-telangiectasia group D complementing (302 words) [view diff] exact match in snippet view article find links to article
Ataxia-telangiectasia group D complementing (ATDC) is a gene implicated in ataxia-telangiectasia. It is involved in a mouse model of pancreatic cancer
Neurodegenerative disease (6,655 words) [view diff] exact match in snippet view article find links to article
and polyQ tract, including Huntington's disease and the spinocerebellar ataxias. The presence of epigenetic modifications for certain genes has been demonstrated
CHEK2 (2,786 words) [view diff] exact match in snippet view article find links to article
responds primarily to double-strand breaks it can also be activated by ATR (ataxia-telangiectasia and Rad3 related) kinase that responds primarily to single-strand
PLK3 (1,197 words) [view diff] exact match in snippet view article find links to article
Matsuoka S, Rotman G, Ogawa A, Shiloh Y, Tamai K, Elledge SJ (2000). "Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro". Proc.
Boucher-Neuhäuser syndrome (723 words) [view diff] exact match in snippet view article find links to article
genetic disorder which is characterized by a triad consisting of cerebellar ataxia, chorioretinal dystrophy, and hypogonadism. The symptoms have already been
Chromosome 11 (1,831 words) [view diff] exact match in snippet view article find links to article
encoding protein Archain 1 ASRGL1: encoding enzyme L-asparaginase ATM: ataxia telangiectasia mutated (includes complementation groups A, C and D) B3GNT1:
FANCD2 (2,487 words) [view diff] exact match in snippet view article find links to article
the treatment of cancer. FANCD2 has been shown to interact with: FANCI Ataxia telangiectasia mutated, BARD1, BRCA1. BRCA2, FANCE, HTATIP, and MEN1. GRCh38:
Laurence–Moon syndrome (701 words) [view diff] exact match in snippet view article find links to article
Syndactyly 4. Polyuria and/or polydipsia (nephrogenic diabetes insipidus) 5. Ataxia, poor coordination, imbalance 6. Mild spasticity (especially lower limbs)
André Barbeau (144 words) [view diff] exact match in snippet view article find links to article
He was known for his research into Parkinson's disease and Friedreich's ataxia and taurine research. Born in Montreal, Quebec, he received a Bachelor of
Alfons Maria Jakob (425 words) [view diff] exact match in snippet view article find links to article
delineation of several diseases, including multiple sclerosis and Friedreich's ataxia. He first recognised and described Alper's disease and Creutzfeldt–Jakob
PTC Therapeutics (592 words) [view diff] exact match in snippet view article find links to article
in refractory mitochondrial epilepsy and a Phase 3 trial in Friedreich’s ataxia. In 2017, PTC acquired Emflaza (deflazacort) from Marathon Pharmaceuticals
PMPCB (979 words) [view diff] exact match in snippet view article find links to article
homeostasis. Accordingly, MPP deficiency was shown to be involved in Friedreich ataxia, an autossomic recessive neurodegenerative disorder GRCh38: Ensembl release
Inferior olivary nucleus (1,286 words) [view diff] exact match in snippet view article find links to article
Endogenous estrogen formation is neuroprotective in model of cerebellar ataxia. Endocrine. 2003 Jun;21(1):43-51. Biegon A. In vivo visualization of aromatase
HERC1 (1,524 words) [view diff] exact match in snippet view article find links to article
pyramidal neurons. Herc1-tbl mutant mice are also characterized by cerebellar ataxia, an unstable gait, and a limb-flexion reflex triggered by tail lifting seen
Marguerite Evans-Galea (991 words) [view diff] exact match in snippet view article find links to article
Children's Research Institute 2012 — Travel Award, Ataxia Investigators Meeting, National Ataxia Foundation USA 2012 — Travel Award, Theo Murphy High
PLD3 (3,069 words) [view diff] exact match in snippet view article find links to article
an association with another neurodegenerative disease, spinocerebellar ataxia. PLD3 was first characterized as a human homolog of the HindIII K4L protein
KCNA2 (1,506 words) [view diff] exact match in snippet view article find links to article
mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia". Annals of Neurology. 80 (4). doi:10.1002/ana.24762. PMC 5129488. PMID 27543892
Reinforced lipids (1,210 words) [view diff] exact match in snippet view article find links to article
D2-linoleic acid ethyl ester (RT001) for Friedreich's ataxia, sponsored by Retrotope and Friedreich's Ataxia Research Alliance, was conducted to determine the
DCMA (107 words) [view diff] exact match in snippet view article find links to article
"lifestyle brand" clothing company DCMA syndrome, dilated cardiomyopathy with ataxia DC Metro Area, the region including Washington, DC, United States Defense
TDP1 (981 words) [view diff] exact match in snippet view article find links to article
Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). While several transcript variants may exist
Bangstad syndrome (159 words) [view diff] exact match in snippet view article find links to article
(May 1989). "Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter and primary gonadal insufficiency
A Litre of Tears (film) (191 words) [view diff] exact match in snippet view article
the way to school. Dr. Yamamoto discovers that Aya has spinocerebellar ataxia, a fatal and incurable disease that handicaps the body. Aya's mother, Shioka
Gerry Neugebauer (561 words) [view diff] exact match in snippet view article find links to article
Arizona. He died on 26 September 2014 in Tucson, due to spinocerebellar ataxia. 1986 Rumford Prize 1996 Henry Norris Russell Lectureship 1998 Herschel
Reinforced lipids (1,210 words) [view diff] exact match in snippet view article find links to article
D2-linoleic acid ethyl ester (RT001) for Friedreich's ataxia, sponsored by Retrotope and Friedreich's Ataxia Research Alliance, was conducted to determine the
Gerry Neugebauer (561 words) [view diff] exact match in snippet view article find links to article
Arizona. He died on 26 September 2014 in Tucson, due to spinocerebellar ataxia. 1986 Rumford Prize 1996 Henry Norris Russell Lectureship 1998 Herschel
A Litre of Tears (film) (191 words) [view diff] exact match in snippet view article
the way to school. Dr. Yamamoto discovers that Aya has spinocerebellar ataxia, a fatal and incurable disease that handicaps the body. Aya's mother, Shioka
List of genetic disorders (798 words) [view diff] exact match in snippet view article find links to article
Arthrogryposis–renal dysfunction–cholestasis syndrome VPS33B 1:78,000,000 Ataxia telangiectasia ATM 1:40,000-1,000,000 Axenfeld syndrome PITX2, FOXO1A, FOXC1
NOVA1 (673 words) [view diff] exact match in snippet view article find links to article
antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts
ADP-ribosylhydrolase 3 (1,137 words) [view diff] exact match in snippet view article find links to article
disorder called stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS; OMIM: 618170). The CONDSIAS is an autosomal recessive
EIF-2 kinase (130 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
H1 (classification) (902 words) [view diff] exact match in snippet view article
Internationale (UCI) defines H1 as: Tetraplegia C6 or above and severe athetosis/ataxia/dystonia Tetraplegic with impairments corresponding to a complete cervical
United States at the 1984 Summer Paralympics (191 words) [view diff] exact match in snippet view article find links to article
with muscular dystrophy, 2 with multiple sclerosis, 2 with Friedreich's ataxia, 1 with Arthrogryposis, 3 with Osteogensis impefecta, and 1 with short stature
Hemicentin 1 (638 words) [view diff] exact match in snippet view article find links to article
Nee LE (1998). "An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa". Neurology. 49 (6): 1717–20. doi:10.1212/wnl.49
List of medical mnemonics (3,883 words) [view diff] exact match in snippet view article find links to article
ciliary-spinal reflex Anisocoria DANISH: Dysdiadochokinesia / dysmetria Ataxia Nystagmus (horizontal) Intention tremor Slurred speech Hypotonia Pinpoint
Locomotor (72 words) [view diff] exact match in snippet view article find links to article
size and low power for light shunting duties Locomotor activity Locomotor ataxia Locomotor effects of shoes Locomotor stimulation Locomotor system (disambiguation)
List of diseases (S) (1,928 words) [view diff] exact match in snippet view article
cardiomyopathy Spinocerebellar ataxia (multiple types) Spinocerebellar ataxia amyotrophy deafness Spinocerebellar ataxia dysmorphism Spinocerebellar atrophy
John T. Brush (1,210 words) [view diff] exact match in snippet view article find links to article
quickly after becoming majority owner in 1902, as he suffered from locomotor ataxia, a nervous system affliction, as well as rheumatism. The Giants won another
Progressive supranuclear palsy (4,335 words) [view diff] exact match in snippet view article find links to article
cortical features including PSP-CBS, PSP-bvFTD, and PSP-PNFA. Cerebellar ataxia as the predominant early presenting feature is increasingly recognized as
Hypermetabolism (641 words) [view diff] exact match in snippet view article find links to article
thyroid often causes a state of increased metabolic activity. Friedreich's ataxia: Manifestation: Local cerebral metabolic activity is increased extensively
Wernicke syndrome (126 words) [view diff] exact match in snippet view article find links to article
Wernicke encephalopathy: an acute neurological syndrome of ophthalmoparesis, ataxia, and encephalopathy brought on by thiamine deficiency. Wernicke–Korsakoff
Moritz Heinrich Romberg (519 words) [view diff] exact match in snippet view article find links to article
observed this in other paralyses. The unsteadiness with eyes closed (sensory ataxia), relates to loss of sense of position in the legs and feet that are normally
AT (397 words) [view diff] exact match in snippet view article find links to article
protein molecule that inactivates several enzymes of the coagulation system Ataxia–telangiectasia, an immunodeficiency disorder Athletic training Astatine
Rhombencephalosynapsis (616 words) [view diff] exact match in snippet view article find links to article
peduncles, and fusion of the dentate nuclei. Findings range from mild truncal ataxia, to severe cerebral palsy. Rhombencephalosynapsis is a constantly found
Opticin (604 words) [view diff] exact match in snippet view article find links to article
eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). GRCh38: Ensembl release 89: ENSG00000188770
KH domain (649 words) [view diff] exact match in snippet view article find links to article
Autoantibodies to NOVA1, a KH domain protein, cause paraneoplastic opsoclonus ataxia. The KH domain is found at the N-terminus of the ribosomal protein S3. This
ARHGAP26 (983 words) [view diff] exact match in snippet view article find links to article
autoantibodies to ARHGAP26 have been implicated in autoimmune cerebellar ataxia. ARHGAP26 has been shown to interact with PKN3. GRCh38: Ensembl release
The Ataxian (168 words) [view diff] exact match in snippet view article find links to article
Ataxian is a documentary film of Kyle Bryant, a sufferer of Friedreich's ataxia. The film premiered at the Dances With Films Festival in 2015.[citation
Poeae (386 words) [view diff] exact match in snippet view article find links to article
Baldingera, Phalaroides, Typhoides) Anthoxanthinae Anthoxanthum (syn. Ataxia, Hierochloe) Supersubtribe Agrostidodinae Brizinae Airopsis Briza (syn.
Dr. Williams' Pink Pills for Pale People (807 words) [view diff] exact match in snippet view article find links to article
frequently in newspaper headlines as "St. Vitus' Dance"; as well as "locomotor ataxia, partial paralyxia, seistica, neuralgia rheumatism, nervous headache, the
Cerebellar degeneration (2,091 words) [view diff] exact match in snippet view article find links to article
diseases that can cause cerebellar degeneration include: Spinocerebellar ataxia (SCA), which refers to a group of conditions caused by mutations in the
Dr. Williams' Pink Pills for Pale People (807 words) [view diff] exact match in snippet view article find links to article
frequently in newspaper headlines as "St. Vitus' Dance"; as well as "locomotor ataxia, partial paralyxia, seistica, neuralgia rheumatism, nervous headache, the
FA (522 words) [view diff] exact match in snippet view article find links to article
value that describes the anisotropy of a diffusion process Friedreich's ataxia, an inherited disease that causes progressive damage to the nervous system
Bone morphogenetic protein receptor, type 1 (72 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
Telangiectasia (1,836 words) [view diff] exact match in snippet view article find links to article
null mutation in BLM DNA repair enzyme. similar mechanism and etiology to ataxia telangiectasia) Naevus flammeus (port-wine stain) Klippel–Trenaunay syndrome
Cerebellar degeneration (2,091 words) [view diff] exact match in snippet view article find links to article
diseases that can cause cerebellar degeneration include: Spinocerebellar ataxia (SCA), which refers to a group of conditions caused by mutations in the
L2HGDH (913 words) [view diff] exact match in snippet view article find links to article
moderate to severe mental retardation, psychomotor retardation, cerebellar ataxia, macrocephaly, or epilepsy. L2HGDH has a role in mediating differentiation
John C. Fawcett (772 words) [view diff] exact match in snippet view article find links to article
difficult feat. Fawcett was in poor health and suffered from locomotor ataxia and depression. On July 7, 1908, Fawcett, age 49, of Everett, Massachusetts
Corneal-cerebellar syndrome (302 words) [view diff] exact match in snippet view article find links to article
Mousa-Al et al. that the disease is different from a disease known as spastic ataxia-corneal dystrophy syndrome that had been found a year later in 1986 in an
Les Autres sport classification (3,204 words) [view diff] exact match in snippet view article find links to article
amputation. This special disability group also includes people with Friedreich's ataxia, Duchenne's, Ehlers-Danlos Syndrome, arthogyposis, osteogenesis imperfecta
Butabarbital (1,519 words) [view diff] exact match in snippet view article find links to article
(hallucinations, agitation, confusion, depression, or memory problems), ataxia, difficulty breathing, or slow heartbeat could be signs of serious adverse
MAFF (gene) (1,839 words) [view diff] exact match in snippet view article
phenotype under laboratory conditions −/− Mild motor ataxia, mild thrombocytopenia −/− +/− Severe motor ataxia, progressive neuronal degeneration, severe thrombocytopenia
C. Thomas Caskey (1,160 words) [view diff] exact match in snippet view article find links to article
tandem repeat DNA sequences causative of FragileX, Myotonic Dystrophy, Ataxia, and now over 40 additional diseases (Giovanni Herenzini Foundation Prize)
Dynamic mutation (370 words) [view diff] exact match in snippet view article find links to article
dystrophy Spinal and bulbar muscular atrophy Spinocerebellar ataxia type 3 Friedreich ataxia Ocularpharyngeal muscular dystrophy Progressive myoclonus epilepsy
EZH2 (4,909 words) [view diff] exact match in snippet view article find links to article
involved in causing neurodegenerative symptoms in the nervous system disorder, ataxia telangiectasia. EZH2 is the catalytic subunit of the Polycomb Repressive
List of diseases (C) (3,634 words) [view diff] exact match in snippet view article
Cerebellar agenesis Cerebellar ataxia areflexia pes cavus optic atrophy Cerebellar ataxia ectodermal dysplasia Cerebellar ataxia infantile with progressive
TGM6 (1,004 words) [view diff] exact match in snippet view article find links to article
to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome (191 words) [view diff] exact match in snippet view article find links to article
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome, also known as Kurukawa-Takagi-Nakao syndrome is a very rare genetic disorder which
Serine/threonine-specific protein kinase (1,049 words) [view diff] exact match in snippet view article find links to article
of this class. ATM serine/threonine kinase, responsible for the disorder ataxia–telangiectasia. Nowakowski, J.; Cronin, C. N.; McRee, D. E.; Knuth, M. W
Posterior cord syndrome (1,045 words) [view diff] exact match in snippet view article find links to article
artery occlusion. Common pathological sources of PCS include Friedreich's Ataxia, an autosomal-recessive inherited disease, and tumors such as astrocytoma
Para-equestrian classification (4,412 words) [view diff] exact match in snippet view article find links to article
athetosis, impaired passive range of movement, hypertonia, limb deficiency, ataxia, leg length difference, short stature, and vision impairment. They are grouped
Excitatory amino acid transporter 1 (1,811 words) [view diff] exact match in snippet view article find links to article
tissues including cardiac myocytes. It is associated with type 6 episodic ataxia. EAAT1 expression may also be associated with osteoarthritis.
H3K9me2 (2,594 words) [view diff] exact match in snippet view article find links to article
addictions. R-loop's are found with H3K9me2 mark at FXN in Friedreich's ataxia cells. H3K9me2 is present at a subset of cardiovascular disease-associated
Receptor protein serine/threonine kinase (168 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
Hindbrain (541 words) [view diff] exact match in snippet view article find links to article
characterized by an absent or partially formed vermis. Symptoms can include truncal ataxia. The disorder is a main feature of Gomez-Lopez-Hernandez syndrome. "Brain
ATR (247 words) [view diff] exact match in snippet view article find links to article
ATR may refer to: Acute transfusion reaction Ataxia telangiectasia and Rad3 related, a protein involved in DNA damage repair Advanced Test Reactor, nuclear
List of diseases (M) (2,464 words) [view diff] exact match in snippet view article
retardation syndrome autosomal Marginal glioneuronal heterotopia Marie type ataxia Marie–Unna congenital hypotrichosis Marinesco–Sjögren like syndrome Marinesco–Sjögren
Brown note (681 words) [view diff] exact match in snippet view article find links to article
Test frequencies ranged from 0.5 Hz to 40 Hz. Test subjects suffered motor ataxia, nausea, visual disturbance, degraded task performance and difficulties
Nijmegen breakage syndrome (1,002 words) [view diff] exact match in snippet view article find links to article
mutation in the NBS1 gene. Unsurprisingly, many of the features are similar to ataxia telangiectasia (AT) and this syndrome was sometimes termed AT-variant 1
SR protein (3,444 words) [view diff] exact match in snippet view article find links to article
interactions with polyribosomes, SR proteins can increase translation of mRNA. Ataxia telangiectasia, neurofibromatosis type 1, several cancers, HIV-1, and spinal
Nijmegen breakage syndrome (1,002 words) [view diff] exact match in snippet view article find links to article
mutation in the NBS1 gene. Unsurprisingly, many of the features are similar to ataxia telangiectasia (AT) and this syndrome was sometimes termed AT-variant 1
KIAA0999 (376 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
List of MeSH codes (C16) (6,496 words) [view diff] exact match in snippet view article
– spinocerebellar degenerations MeSH C16.320.400.780.200 – Friedreich's ataxia MeSH C16.320.400.780.500 – myoclonic cerebellar dyssynergia MeSH C16.320
Fas-activated serine/threonine kinase (199 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
MAP3K13 (451 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
STK38L (561 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
Adolphus Lewis Heermann (344 words) [view diff] exact match in snippet view article find links to article
came back to New York in 1842. From 1862 he was suffering from locomotor ataxia, a symptom of syphilis and when Henry Dresser visited San Antonio in 1863
Immune disorder (689 words) [view diff] exact match in snippet view article find links to article
normal cell-mediated immunity. X-linked lymphoproliferative disease (XLP) Ataxia–telangiectasia Secondary immune deficiencies AIDS An allergy is an abnormal
PSKH1 (401 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
PFTK1 (535 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
Dual-specificity kinase (241 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
Sgt. Disco (335 words) [view diff] exact match in snippet view article find links to article
Five (2005) Sgt. Disco (2007) Ataxia (2008)
Octave Crouzon (214 words) [view diff] exact match in snippet view article find links to article
specialized in hereditary neurological diseases, especially spinocerebellar ataxia. He did extensive work associated with cervical and lumbar spine deformities
List of diseases (E) (923 words) [view diff] exact match in snippet view article
desquamativa of Leiner Erythroderma lethal congenital Erythrokeratodermia ataxia Erythrokeratodermia progressive symmetrica ichthyosis Erythrokeratodermia
Leptophos (1,183 words) [view diff] exact match in snippet view article find links to article
Organism Test Type Route Reported Dose Effect Source Cat LDLo Skin 2250 mg/kg Ataxia, Changes in Salivary glands, Hypermotility, Diarrhea. National Technical
Tropomyosin kinase (190 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
RHEB (2,652 words) [view diff] exact match in snippet view article find links to article
formation of tumors. RHEB has been shown to interact with: Ataxia telangiectasia mutated (ATM) Ataxia telangiectasia and Rad3 related (ATR) 5' AMP-activated
Fatal insomnia (2,541 words) [view diff] exact match in snippet view article find links to article
example, sleep problems are not commonly reported and early symptoms are ataxia, cognitive impairment, and double vision. The gene PRNP that provides instructions
MAP3K9 (459 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
List of diseases (F) (924 words) [view diff] exact match in snippet view article
Friedel–Heid–Grosshans syndrome Friedman–Goodman syndrome Friedreich ataxia congenital glaucoma Friedreich's ataxia Froelich's syndrome Frölich's syndrome Fronto nasal
Nav1.1 (2,613 words) [view diff] exact match in snippet view article find links to article
the homozygous and heterozygous states develop the seizure phenotype and ataxia. Though homozygous mice die on average during the second to third week of
Goodpasture-antigen-binding protein kinase (218 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
TSSK2 (410 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
RPS6KC1 (425 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
Dissociated sensory loss (539 words) [view diff] exact match in snippet view article find links to article
Subacute combined degeneration Multiple sclerosis Tabes dorsalis Friedreich's ataxia (or other spinocerebellar degeneration) Traumatic and iatrogenic causes
Prickle (protein) (923 words) [view diff] exact match in snippet view article
Prickle1 gene can result in Prickle1-Related Progressive Myoclonus Epilepsy-Ataxia Syndrome. This mutation disrupts the interaction between prickle-like 1
Gringo (album) (411 words) [view diff] exact match in snippet view article
Ataxia (2008) Gringo (2009) Mother skinny (2010)
STK40 (404 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
The Radiolarian Ooze (91 words) [view diff] exact match in snippet view article find links to article
4:48 6. "Canaries in the Mineshaft" 4:04 7. "The Edison Medicine" 1:15 8. "Ataxia" 11:54 9. "Chloe Don't Know I'm Alive" 8:20 10. "Cosmos Brutile" 6:09 11
MAFG (2,627 words) [view diff] exact match in snippet view article find links to article
Mouse Phenotype Maff Mafg Mafk −/− Mild motor ataxia, mild thrombocytopenia −/− +/− Severe motor ataxia, progressive neuronal degeneration, severe thrombocytopenia
BRSK2 (491 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1
KSR2 (197 words) [view diff] exact match in snippet view article find links to article
MAST2 STK38 STK38L CIT ROCK1 SGK SGK2 SGK3 Protein kinase B AKT1 AKT2 AKT3 Ataxia telangiectasia mutated mTOR EIF-2 kinases PKR HRI EIF2AK3 EIF2AK4 Wee1 WEE1