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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)

disorders, including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. "Voltage-dependent calcium channels mediate the

ATM since he found that its mutations are responsible for the disorder ataxia–telangiectasia. In 1998, the Shiloh and Kastan laboratories independently

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

Stanescu HC, Bandulik S, Zdebik AA, Reichold M, et al. (May 2009). "Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations". The New England

average shedders. Finnish Hounds suffer from an inherited disease, cerebellar ataxia, forcing people to euthanize many puppies. This has been traced to a single

anomalies and intellectual disability), or Gillespie syndrome (cerebellar ataxia). The AN2 region of the short arm of chromosome 11 (11p13) includes the

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 (CPPV 1) is a species of parvovirus that infects carnivorans. It causes a highly contagious disease in both dogs and cats.

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

devastating neurological disorders, such as Rett syndrome and Spinocerebellar ataxia type 1. Zoghbi's discoveries have provided new ways of thinking about other

investigated as a treatment for cerebellar ataxia. Ogawa, M (2004). "Pharmacological treatments of cerebellar ataxia". Cerebellum. London). 3 (2): 107–11.

Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood. High levels of these substances can damage

myotonic dystrophy, two of the spinocerebellar ataxias, juvenile myoclonic epilepsy, and Friedreich's ataxia. These diseases are characterized by typically

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 is an autosomal recessive cerebellar ataxia originally described by Harding in 1981. This form of cerebellar ataxia is similar to Friedreich

Erythrokeratodermia with ataxia is a condition characterized by erythematous, hyperkeratotic plaques with fine, white, attached scales distributed almost

permeability of excitable membranes. KCNC3 is associated with spinocerebellar ataxia type 13. Voltage-gated potassium channel GRCh38: Ensembl release 89: ENSG00000131398

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 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

neurodegenerative disease. Symptoms are similar to those of Friedreich ataxia. Familial isolated vitamin E deficiency is caused by mutations in the gene

poly(Q) motif region in the protein contributes crucially to spinocerebellar ataxia (SCA) pathogenesis by the induction of intranuclear inclusion bodies. ATXN7

single-stranded DNA repair. Mutations in this gene have been associated with ataxia–ocular apraxia. Multiple transcript variants encoding distinct isoforms

selective muscarinic acetylcholine receptor agonist. Oxotremorine produces ataxia, tremor and spasticity, similar to those symptoms seen in Parkinsonism,

Types include: Erythrokeratodermia variabilis Erythrokeratodermia with ataxia Progressive symmetric erythrokeratodermia "Erythrokeratoderma - DermNet

following two conditions associated with thymic hypoplasia: 22q11.2 deletion syndrome: hypocalcemia Ataxia telangiectasia: normal levels of calcium v t e

it has anxiolytic and anticonvulsant effects but with little sedation or ataxia produced. Benzodiazepine Watjen F, Baker R, Engelstoff M, Herbert R, MacLeod

protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). PRKCG has been shown to interact with GRIA4. Protein kinase

symptoms of benzodiazepine intoxication include confusion, slurred speech, ataxia, drowsiness, dyspnea, and hyporeflexia). Diseases associated with hyporeflexia

decreases and can lead to myopathy, neuropathy, cognitive decline, cerebellar ataxia, and dementia. The different symptoms in each of the PME and between individuals

onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th

studio album by American experimental rock band Ataxia, released on August 10, 2004 on Record Collection. Ataxia consisted of Red Hot Chili Peppers guitarist

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, or frontal ataxia, is a gait apraxia found in patients with bilateral frontal lobe disorders. It is characterised by an inability to initiate

Anthoxanthinae A.Gray Genus: Anthoxanthum L. Type species Anthoxanthum odoratum L. Synonyms Ataxia R.Br. Flavia Heist. ex Fabr. Xanthonanthos St.-Lag.

It includes people who have coordination impairments such as hypertonia, ataxia and athetosis. It includes people with cerebral palsy. T36 is used by the

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

ataxia (OMIM ID: 615705). Salih ataxia (also known as spinocerebellar ataxia, autosomal recessive 15 or SCAR15) is a form of spinocerebellar ataxia characterized

problems involving the nervous system. Mutations in the ATM gene cause ataxia–telangiectasia. The ATM gene provides instructions for making a protein

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

The UC Davis MIND Institute (Medical Investigation of Neurodevelopmental Disorders) research and treatment center affiliated with the University of California

or ataxia; bilateral through knee amputation, etcetera. C2: cyclists with moderate hemiplegic or diplegic spasticity; moderate athetosis or ataxia; unilateral

or ataxia; bilateral through knee amputation, etcetera. C2: cyclists with moderate hemiplegic or diplegic spasticity; moderate athetosis or ataxia; unilateral

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

or ataxia; bilateral through knee amputation, etcetera. C2: cyclists with moderate hemiplegic or diplegic spasticity; moderate athetosis or ataxia; unilateral

in this gene have been implicated in X-linked sideroblastic anemia with ataxia. ABCB7 has been shown to interact with Ferrochelatase. ATP-binding cassette

approximately 40 countries for anxiety disorders, without the sedation and ataxia associated with benzodiazepine drugs. It has similar anxiolytic effects

sclerosis, Huntington's disease, Niemann-Pick disease, and Friedreich's ataxia.[citation needed] Toxic and metabolic conditions include: Wilson's disease

disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and intellectual disability. The family described by Biemond had a few members

ataxia, frontotemporal dementia, and lower motor neuron involvement whereas a homozygous biallelic deletion leads to a syndrome of cerebellar ataxia with

signs include hypomimia, problems articulating, weakening of reflexes, and ataxia. The GABAA receptor, one of barbiturates' main sites of action, is thought

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

anhydrase enzymes. A rare, autosomal recessive form of cerebellar ataxia known as "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" (CAMRQ3)

disability, slowed growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis. In at least some case, the gene lesion involves a mutation

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

childhood disorders of Alice in Wonderland Syndrome and acute cerebellar ataxia. Symptoms of infectious mononucleosis are fever, sore throat, and swollen

phenotype involving cerebellar ataxia. It may refer to: Autosomal recessive cerebellar ataxia type 1, a.k.a. autosomal recessive ataxia, Beauce type Autosomal

of left ventricular hypertrophy may include Fabry disease, Friedreich's ataxia, and certain medications such as tacrolimus. Other considerations for causes

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

encoded by the ATXN1 gene. Mutations in ataxin-1 cause spinocerebellar ataxia type 1, an inherited neurodegenerative disease characterized by a progressive

of left ventricular hypertrophy may include Fabry disease, Friedreich's ataxia, and certain medications such as tacrolimus. Other considerations for causes

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 gene. Mutations in this gene is associated with Spinocerebellar ataxia type 5. SPTBN2 has been shown to interact with: ACTR1A, Beta-actin, and

malignancies. The following chromosome instability syndromes are known: Ataxia telangiectasia Ataxia telangiectasia-like disorder Bloom syndrome Fanconi anaemia Nijmegen

cardiac conduction abnormalities. Other symptoms may include cerebellar ataxia, proximal muscle weakness, deafness, diabetes mellitus, growth hormone deficiency

Spastic ataxia-corneal dystrophy syndrome (also known as Bedouin spastic ataxia syndrome) is an autosomally resessive disease. It has been found in an

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

IFCPF rankings. The team consists of neurologically impaired athletes with ataxia, hypertonia or athetosis, playing a similar formatted game to Association

sequences) in the replication factor C subunit 1 (RFC1) gene causes cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). Within the poly(A)

incorporated into the SCA8 but not the KLHL1 transcript causes spinocerebellar ataxia type 8. When the CTG expansion is present, a polyglutamine mutant protein

difficulty with forward trunk movement. They also may have hypertonia, ataxia and athetosis. This classification is for disability athletics. This classification

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 (FARA) is a 501(c)(3), non-profit, tax-exempt organization formed to support the research on Friedreich's ataxia. It was

Hemiplegia, Triplegia, Quadriplegia, Monoplegia, Dystonia, Athetosis, Ataxia, Balance issues, Co-ordination issues, Weakness in certain areas of the

are fragile X syndrome, several spinocerebellar ataxias, myotonic dystrophy and Friedreich's ataxia. The first documentation of anticipation in genetic

cyclists with severe hemiplegic or diplegic spasticity; severe athetosis or ataxia; bilateral through knee amputation, etcetera. The event took place on 31

recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and

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

this gene have been shown to cause autosomal recessive spinocerebellar ataxia with psychomotor retardation. GRCh38: Ensembl release 89: ENSG00000143469

with large deficits of attention of the non-dominant hemisphere. Optic ataxia is associated with difficulties reaching toward objects in the visual field

with moderate hemiplegic or diplegic spasticity; moderate athetosis or ataxia; unilateral above knee amputation, etcetera. The event took place on 31

by the ATXN3 gene. Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by

this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and

with moderate hemiplegic or diplegic spasticity; moderate athetosis or ataxia; bilateral below knee or unilateral through knee amputation, etcetera. The

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

clinical investigation for a variety of indications, including Friedreich’s ataxia, mitochondrial myopathies, immunooncology, and prevention of corneal endothelial

et al. (November 2000). "Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34"

One album, Automatic Writing (album), was released under the band name Ataxia (which was composed of Frusciante, Joe Lally and Josh Klinghoffer). The

Taltirelin is primarily being researched for the treatment of spinocerebellar ataxia; limited research has also been carried out with regard to other neurodegenerative

cyclists with mild hemiplegic or diplegic spasticity; mild athetosis or ataxia; unilateral below-knee or bilateral below elbow amputation, etc. tetraplegics

long. Important examples of polyglutamine diseases are spinocerebellar ataxia and Huntington's disease. Trinucleotide repeat expansion occurring in a

athetosis or ataxia; bilateral through knee amputation, etc. C2: moderate hemiplegic or diplegic spasticity; moderate athetosis or ataxia; unilateral above

hereditary spastic paraplegias or neurodegenerative disorders as well as spastic ataxia-neuropathy syndrome. GRCh38: Ensembl release 89: ENSG00000141385 - Ensembl

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

function in the suppression of radiosensitivity since it is associated with ataxia–telangiectasia phenotype. TRIM29 has been shown to interact with TRIM23

Autophosphorylation is a type of post-translational modification of proteins. It is generally defined as the phosphorylation of the kinase by itself. In

progressive myoclonus ataxia, also known as Progressive myoclonic epilepsy type 6 is a rare genetic type of progressive myoclonus ataxia which is characterized

dorsal spinocerebellar tract. It has been observed that in Friedreich's ataxia there is evident degeneration of the posterior thoracic nucleus as well

refer to: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 (CAMRQ1), an autosomal recessive cerebellar ataxia associated with the VLDLR

mutations are also known as synaptic channelopathies. An example is episodic ataxia. Myasthenia gravis is an example of an autoimmune synaptopathy. Some toxins

cyclists with mild hemiplegic or diplegic spasticity; mild athetosis or ataxia; unilateral below knee or bilateral below elbow amputation, etcetera. The

PIP5K1B gene contributes to the cytoskeletal defects seen in Friedreich's ataxia. GRCh38: Ensembl release 89: ENSG00000107242 - Ensembl, May 2017 GRCm38:

cyclists with mild hemiplegic or diplegic spasticity; mild athetosis or ataxia; unilateral below knee or bilateral below elbow amputation, etcetera. The

disease and four other dominant ataxias, which led to the identification of genes involved in the spinocerebellar ataxias SCA2 and SCA7 (Trottier et al

include the following: Neuromuscular problems – such as spinocerebellar ataxia and myopathies. Neurological problems – may include dysarthria, absence

with mutations in the TATA box include gastric cancer, spinocerebellar ataxia, Huntington's disease, blindness, β-thalassemia, immunosuppression, Gilbert's

fragile X mental retardation syndrome, myotonic dystrophy, Friedrich’s ataxia, and Huntington’s disease, most of which are caused by expansion of repeats

childhood disorders of Alice in Wonderland syndrome and acute cerebellar ataxia and, based on some evidence, higher risks of developing certain autoimmune

is specifically for athletes with tetraplegia C7/C8 and severe athetosis/ataxia/dystonia, and tetraplegics with impairments corresponding to a complete

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

[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 aenea (Bates, 1867) Piezocera araujosilvai Melzer, 1935 Piezocera ataxia Martins, 1976 Piezocera bivittata Audinet-Serville, 1834 Piezocera costula

quadriplegia with/without athetosis/ataxia Severe hemiplegia (non-ambulant) Severe diplegia (non-ambulant) and athetosis/ataxia Neurological impairments with

is specifically for athletes with tetraplegia C7/C8 and severe athetosis/ataxia/dystonia, and tetraplegics with impairments corresponding to a complete

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

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 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

cyclists with mild hemiplegic or diplegic spasticity; mild athetosis or ataxia; unilateral below-knee or bilateral below elbow amputation, etc. tetraplegics

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

A, Boespflug-Tanguy O, Bertini E (2003). "A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy

spokesperson for the Friedreich's Ataxia Research Alliance (FARA). Bryant is the founder and event director of rideATAXIA – a nationwide bike ride fundraiser

of this gene may cause a rare form of autosomal dominant spinocerebellar ataxia 12. GRCh38: Ensembl release 89: ENSG00000156475 - Ensembl, May 2017 GRCm38:

syndrome (an X-linked recessive disorder), and ataxia–telangiectasia.[citation needed] Even though ataxia telangiectasia is an autosomal recessive disorder

there is a reduction in the frequency of seizures, abnormal EEG readings, ataxia and abnormal sleeping patterns, and extension of remission periods. More

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)

Internationale (UCI) defines H2 as: Tetraplegia C7/C8 and severe athetosis/ataxia/dystonia Tetraplegic with impairments corresponding to a complete cervical

A, Boespflug-Tanguy O, Bertini E (2003). "A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy

(telomere repeat sequence) Autosomal recessive Friedreich ataxia – GAA (Note: Friedreich ataxia does not usually exhibit anticipation because it is an autosomal

binding sequences on exon 7. Mutations in the ATM gene are responsible for Ataxia telangiecstasia. These mutations are generally single base pair substitutions

1893 Anaches Pascoe, 1865 Anobrium Belon, 1902 Aprophata Pascoe, 1862 Ataxia Haldeman, 1847 Atybe Pascoe, 1864 Baraeus Thomson, 1858 Batrachorhina Chevrolat

Spinocerebellar ataxia 12; 604326; PPP2R2B Spinocerebellar ataxia 14; 605361; PRKCG Spinocerebellar ataxia 15; 606658; ITPR1 Spinocerebellar ataxia 17; 607136;

paraplegia, Guillain–Barré syndrome, Welander distal myopathy, Friedreich's ataxia and Chronic Compartment Syndrome. It may also occur as a result of hip replacement

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

mobility impairments such as muscle power, limb deficiency, hypertonia, ataxia or athetosis that have a classification assessment score from 455,0 to 494

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

Harold Pig Memorial (2002) Pinball Mars (2003) Five (2005) Sgt. Disco (2007) Ataxia (2008) Gringo (2009) Mother Skinny (2010) Capsized! (2011) When Machines

Autosomal Dominant Stargardt-like Macular Dystrophy (STGD3), Spinocerebellar Ataxia-34 (SCA34), skin deformities and seizures. Stargardt disease GRCh38: Ensembl

the "Ataxia" instrumental series. Newer installments of the song would appear on the band's subsequent studio albums ever since. Speaking on "Ataxia" in

spinocerebellar ataxia is a very rare genetic disorder which is characterized by mild sideroblastic anemia, and spinocerebellar ataxia that either doesn't

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

cerebellum on cognition, including patients with spinocerebellar ataxia, Friedreich's ataxia, and mice with spontaneous mutations causing cerebellar damage

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.

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

as tremors. In dogs, symptoms can include vomiting, convulsion, tremors, ataxia, and tachycardia. MycoBank Alexopolous, C.J.; Mims, Charles W.; Blackwell

Ehlers–Danlos syndrome Fibrodysplasia ossificans progressiva Friedreich's ataxia Frontotemporal dementia (FTD) Some cardiovascular diseases (e.g. atherosclerotic

protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative

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

ultimately lead to death. It is characterized by progressive cerebellar ataxia, or loss of coordination and control over muscle movements. The preclinical

ultimately lead to death. It is characterized by progressive cerebellar ataxia, or loss of coordination and control over muscle movements. The preclinical

recombinational DNA repair, and also show reduced interaction with HDAC1. Ataxia-telangiectasia is due to mutation in the Atm gene. Wild-type Atm encodes

frataxin production. Frataxin deficiency is a key component to Friedreich's ataxia, a genetically inherited disease that causes the progressive loss of coordination

"Chronic bromvalerylurea intoxication: Dystonic posture and cerebellar ataxia due to nonsteroidal anti-inflammatory drug abuse" (pdf). Internal Medicine

altered states of consciousness, dementia, ventilatory failure Neuropathy, ataxia, retinitis pigmentosa, and ptosis (NARP) progressive symptoms as described

especially in young patients. It can also be seen in syringomyelia, Friedreich's ataxia, spina bifida, kyphoscoliotic Ehlers–Danlos syndrome (kEDS), and Duchenne

showed phenotypes of congenital myopathy, mental retardation, cerebellar ataxia, and diabetes mellitus. Another patient with the same mutation was found

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 (ATDC) is a gene implicated in ataxia-telangiectasia. It is involved in a mouse model of pancreatic cancer

and polyQ tract, including Huntington's disease and the spinocerebellar ataxias. The presence of epigenetic modifications for certain genes has been demonstrated

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

Matsuoka S, Rotman G, Ogawa A, Shiloh Y, Tamai K, Elledge SJ (2000). "Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro". Proc.

genetic disorder which is characterized by a triad consisting of cerebellar ataxia, chorioretinal dystrophy, and hypogonadism. The symptoms have already been

encoding protein Archain 1 ASRGL1: encoding enzyme L-asparaginase ATM: ataxia telangiectasia mutated (includes complementation groups A, C and D) B3GNT1:

the treatment of cancer. FANCD2 has been shown to interact with: FANCI Ataxia telangiectasia mutated, BARD1, BRCA1. BRCA2, FANCE, HTATIP, and MEN1. GRCh38:

Syndactyly 4. Polyuria and/or polydipsia (nephrogenic diabetes insipidus) 5. Ataxia, poor coordination, imbalance 6. Mild spasticity (especially lower limbs)

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

delineation of several diseases, including multiple sclerosis and Friedreich's ataxia. He first recognised and described Alper's disease and Creutzfeldt–Jakob

in refractory mitochondrial epilepsy and a Phase 3 trial in Friedreich’s ataxia. In 2017, PTC acquired Emflaza (deflazacort) from Marathon Pharmaceuticals

homeostasis. Accordingly, MPP deficiency was shown to be involved in Friedreich ataxia, an autossomic recessive neurodegenerative disorder GRCh38: Ensembl release

Endogenous estrogen formation is neuroprotective in model of cerebellar ataxia. Endocrine. 2003 Jun;21(1):43-51. Biegon A. In vivo visualization of aromatase

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

Children's Research Institute 2012 — Travel Award, Ataxia Investigators Meeting, National Ataxia Foundation USA 2012 — Travel Award, Theo Murphy High

an association with another neurodegenerative disease, spinocerebellar ataxia. PLD3 was first characterized as a human homolog of the HindIII K4L protein

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

D2-linoleic acid ethyl ester (RT001) for Friedreich's ataxia, sponsored by Retrotope and Friedreich's Ataxia Research Alliance, was conducted to determine the

"lifestyle brand" clothing company DCMA syndrome, dilated cardiomyopathy with ataxia DC Metro Area, the region including Washington, DC, United States Defense

Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). While several transcript variants may exist

(May 1989). "Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter and primary gonadal insufficiency

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

Arizona. He died on 26 September 2014 in Tucson, due to spinocerebellar ataxia. 1986 Rumford Prize 1996 Henry Norris Russell Lectureship 1998 Herschel

D2-linoleic acid ethyl ester (RT001) for Friedreich's ataxia, sponsored by Retrotope and Friedreich's Ataxia Research Alliance, was conducted to determine the

Arizona. He died on 26 September 2014 in Tucson, due to spinocerebellar ataxia. 1986 Rumford Prize 1996 Henry Norris Russell Lectureship 1998 Herschel

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

Arthrogryposis–renal dysfunction–cholestasis syndrome VPS33B 1:78,000,000 Ataxia telangiectasia ATM 1:40,000-1,000,000 Axenfeld syndrome PITX2, FOXO1A, FOXC1

antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts

disorder called stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS; OMIM: 618170). The CONDSIAS is an autosomal recessive

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

Internationale (UCI) defines H1 as: Tetraplegia C6 or above and severe athetosis/ataxia/dystonia Tetraplegic with impairments corresponding to a complete cervical

with muscular dystrophy, 2 with multiple sclerosis, 2 with Friedreich's ataxia, 1 with Arthrogryposis, 3 with Osteogensis impefecta, and 1 with short stature

Nee LE (1998). "An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa". Neurology. 49 (6): 1717–20. doi:10.1212/wnl.49

ciliary-spinal reflex Anisocoria DANISH: Dysdiadochokinesia / dysmetria Ataxia Nystagmus (horizontal) Intention tremor Slurred speech Hypotonia Pinpoint

size and low power for light shunting duties Locomotor activity Locomotor ataxia Locomotor effects of shoes Locomotor stimulation Locomotor system (disambiguation)

cardiomyopathy Spinocerebellar ataxia (multiple types) Spinocerebellar ataxia amyotrophy deafness Spinocerebellar ataxia dysmorphism Spinocerebellar atrophy

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

cortical features including PSP-CBS, PSP-bvFTD, and PSP-PNFA. Cerebellar ataxia as the predominant early presenting feature is increasingly recognized as

thyroid often causes a state of increased metabolic activity. Friedreich's ataxia: Manifestation: Local cerebral metabolic activity is increased extensively

Wernicke encephalopathy: an acute neurological syndrome of ophthalmoparesis, ataxia, and encephalopathy brought on by thiamine deficiency. Wernicke–Korsakoff

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

protein molecule that inactivates several enzymes of the coagulation system Ataxia–telangiectasia, an immunodeficiency disorder Athletic training Astatine

peduncles, and fusion of the dentate nuclei. Findings range from mild truncal ataxia, to severe cerebral palsy. Rhombencephalosynapsis is a constantly found

eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). GRCh38: Ensembl release 89: ENSG00000188770

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

autoantibodies to ARHGAP26 have been implicated in autoimmune cerebellar ataxia. ARHGAP26 has been shown to interact with PKN3. GRCh38: Ensembl release

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

Baldingera, Phalaroides, Typhoides) Anthoxanthinae Anthoxanthum (syn. Ataxia, Hierochloe) Supersubtribe Agrostidodinae Brizinae Airopsis Briza (syn.

frequently in newspaper headlines as "St. Vitus' Dance"; as well as "locomotor ataxia, partial paralyxia, seistica, neuralgia rheumatism, nervous headache, the

diseases that can cause cerebellar degeneration include: Spinocerebellar ataxia (SCA), which refers to a group of conditions caused by mutations in the

frequently in newspaper headlines as "St. Vitus' Dance"; as well as "locomotor ataxia, partial paralyxia, seistica, neuralgia rheumatism, nervous headache, the

value that describes the anisotropy of a diffusion process Friedreich's ataxia, an inherited disease that causes progressive damage to the nervous system

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

null mutation in BLM DNA repair enzyme. similar mechanism and etiology to ataxia telangiectasia) Naevus flammeus (port-wine stain) Klippel–Trenaunay syndrome

diseases that can cause cerebellar degeneration include: Spinocerebellar ataxia (SCA), which refers to a group of conditions caused by mutations in the

moderate to severe mental retardation, psychomotor retardation, cerebellar ataxia, macrocephaly, or epilepsy. L2HGDH has a role in mediating differentiation

difficult feat. Fawcett was in poor health and suffered from locomotor ataxia and depression. On July 7, 1908, Fawcett, age 49, of Everett, Massachusetts

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

amputation. This special disability group also includes people with Friedreich's ataxia, Duchenne's, Ehlers-Danlos Syndrome, arthogyposis, osteogenesis imperfecta

(hallucinations, agitation, confusion, depression, or memory problems), ataxia, difficulty breathing, or slow heartbeat could be signs of serious adverse

phenotype under laboratory conditions −/− Mild motor ataxia, mild thrombocytopenia −/− +/− Severe motor ataxia, progressive neuronal degeneration, severe thrombocytopenia

tandem repeat DNA sequences causative of FragileX, Myotonic Dystrophy, Ataxia, and now over 40 additional diseases (Giovanni Herenzini Foundation Prize)

dystrophy Spinal and bulbar muscular atrophy Spinocerebellar ataxia type 3 Friedreich ataxia Ocularpharyngeal muscular dystrophy Progressive myoclonus epilepsy

involved in causing neurodegenerative symptoms in the nervous system disorder, ataxia telangiectasia. EZH2 is the catalytic subunit of the Polycomb Repressive

Cerebellar agenesis Cerebellar ataxia areflexia pes cavus optic atrophy Cerebellar ataxia ectodermal dysplasia Cerebellar ataxia infantile with progressive

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, also known as Kurukawa-Takagi-Nakao syndrome is a very rare genetic disorder which

of this class. ATM serine/threonine kinase, responsible for the disorder ataxia–telangiectasia. Nowakowski, J.; Cronin, C. N.; McRee, D. E.; Knuth, M. W

artery occlusion. Common pathological sources of PCS include Friedreich's Ataxia, an autosomal-recessive inherited disease, and tumors such as astrocytoma

athetosis, impaired passive range of movement, hypertonia, limb deficiency, ataxia, leg length difference, short stature, and vision impairment. They are grouped

tissues including cardiac myocytes. It is associated with type 6 episodic ataxia. EAAT1 expression may also be associated with osteoarthritis.

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

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

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 may refer to: Acute transfusion reaction Ataxia telangiectasia and Rad3 related, a protein involved in DNA damage repair Advanced Test Reactor, nuclear

retardation syndrome autosomal Marginal glioneuronal heterotopia Marie type ataxia Marie–Unna congenital hypotrichosis Marinesco–Sjögren like syndrome Marinesco–Sjögren

Test frequencies ranged from 0.5 Hz to 40 Hz. Test subjects suffered motor ataxia, nausea, visual disturbance, degraded task performance and difficulties

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

interactions with polyribosomes, SR proteins can increase translation of mRNA. Ataxia telangiectasia, neurofibromatosis type 1, several cancers, HIV-1, and spinal

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

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

– spinocerebellar degenerations MeSH C16.320.400.780.200 – Friedreich's ataxia MeSH C16.320.400.780.500 – myoclonic cerebellar dyssynergia MeSH C16.320

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

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

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

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

normal cell-mediated immunity. X-linked lymphoproliferative disease (XLP) Ataxia–telangiectasia Secondary immune deficiencies AIDS An allergy is an abnormal

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

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

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

Five (2005) Sgt. Disco (2007) Ataxia (2008)

specialized in hereditary neurological diseases, especially spinocerebellar ataxia. He did extensive work associated with cervical and lumbar spine deformities

desquamativa of Leiner Erythroderma lethal congenital Erythrokeratodermia ataxia Erythrokeratodermia progressive symmetrica ichthyosis Erythrokeratodermia

Organism Test Type Route Reported Dose Effect Source Cat LDLo Skin 2250 mg/kg Ataxia, Changes in Salivary glands, Hypermotility, Diarrhea. National Technical

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

formation of tumors. RHEB has been shown to interact with: Ataxia telangiectasia mutated (ATM) Ataxia telangiectasia and Rad3 related (ATR) 5' AMP-activated

example, sleep problems are not commonly reported and early symptoms are ataxia, cognitive impairment, and double vision. The gene PRNP that provides instructions

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

Friedel–Heid–Grosshans syndrome Friedman–Goodman syndrome Friedreich ataxia congenital glaucoma Friedreich's ataxia Froelich's syndrome Frölich's syndrome Fronto nasal

the homozygous and heterozygous states develop the seizure phenotype and ataxia. Though homozygous mice die on average during the second to third week of

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

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

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

Subacute combined degeneration Multiple sclerosis Tabes dorsalis Friedreich's ataxia (or other spinocerebellar degeneration) Traumatic and iatrogenic causes

Prickle1 gene can result in Prickle1-Related Progressive Myoclonus Epilepsy-Ataxia Syndrome. This mutation disrupts the interaction between prickle-like 1

Ataxia (2008) Gringo (2009) Mother skinny (2010)

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

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

Mouse Phenotype Maff Mafg Mafk −/− Mild motor ataxia, mild thrombocytopenia −/− +/− Severe motor ataxia, progressive neuronal degeneration, severe thrombocytopenia

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

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