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Longer titles found: Spinocerebellar ataxia type-13 (view), Spinocerebellar ataxia type 1 (view), Spinocerebellar ataxia type 6 (view), X-linked sideroblastic anemia and spinocerebellar ataxia (view)

searching for Spinocerebellar ataxia 54 found (167 total)

alternate case: spinocerebellar ataxia

Oculomotor apraxia (1,509 words) [view diff] exact match in snippet view article find links to article

lesion. Ataxia-oculomotor apraxia type 2 (AOA2), also known as spinocerebellar ataxia with axonal neuropathy type 2, has its onset during adolescence

Ataxin 10 (850 words) [view diff] exact match in snippet view article find links to article

Grewal R, Pulst SM (Apr 1999). "Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22". Am J Hum Genet. 64 (2): 594–9. doi:10.1086/302247

PRKCG (526 words) [view diff] exact match in snippet view article find links to article

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

Health of Abraham Lincoln (3,177 words) [view diff] exact match in snippet view article find links to article

syphilophobia. The theory that Lincoln was afflicted with type 5 spinocerebellar ataxia is no longer accepted. It was during his time as an Illinois legislator

ATXN2L (760 words) [view diff] exact match in snippet view article find links to article

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

Ataxin 3 (1,245 words) [view diff] exact match in snippet view article find links to article

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

Mir-19 microRNA precursor family (3,172 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

PLEKHG4 (644 words) [view diff] exact match in snippet view article find links to article

Flanigan K, Gardner K, Alderson K, et al. (1996). "Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and

Troriluzole (364 words) [view diff] exact match in snippet view article find links to article

medication that has been investigated as a potential treatment for spinocerebellar ataxia type 3 (SCA3), obsessive-compulsive disorder, and glioblastoma.

ITPR1 (1,718 words) [view diff] exact match in snippet view article find links to article

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.pgen

Boucher-Neuhäuser syndrome (666 words) [view diff] exact match in snippet view article find links to article

Appen, R. E.; Gilbert-Barness, E. F.; Pauli, R. M. (July 1989). "Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser

List of OMIM disorder codes (18,877 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;

Trehalose (2,687 words) [view diff] exact match in snippet view article find links to article

injectable form of trehalose (SLS-005) as a potential treatment for spinocerebellar ataxia type 3 (SCA3). In 1832, H.A.L. Wiggers discovered trehalose in an

CCDC88C (gene) (532 words) [view diff] exact match in snippet view article

CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia". J. Med. Genet. 51 (9): 590–5. doi:10.1136/jmedgenet-2014-102333

Cane Paratore (620 words) [view diff] exact match in snippet view article find links to article

generally healthy, they are prone to conditions such as osteodystrophy, spinocerebellar ataxia, and Legg-Calve-Perthes disease. Local anecdotal evidence suggests

Parson Russell Terrier (2,131 words) [view diff] exact match in snippet view article find links to article

2014 study identified the KCNJ10 gene as being responsible for the spinocerebellar ataxia accompanied by myokymia and/or seizures in the breed. This condition

ABCB7 (856 words) [view diff] exact match in snippet view article find links to article

gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia". J. Hum. Genet. 43 (2): 115–22. doi:10.1007/s100380050051. PMID 9621516

Familial isolated vitamin E deficiency (298 words) [view diff] exact match in snippet view article find links to article

Tedde A, Bagnoli S, Ciantelli M, Sorbi S (Dec 2002). "A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia". Archives of Neurology

Russell Terrier (1,102 words) [view diff] exact match in snippet view article find links to article

2014 study identified the KCNJ10 gene as being responsible for the spinocerebellar ataxia accompanied by myokymia and/or seizures in the breed. This condition

PRKACG (1,051 words) [view diff] exact match in snippet view article find links to article

protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14". Arch. Neurol. 61 (8): 1242–8. doi:10.1001/archneur.61

Alpha-tocopherol transfer protein (909 words) [view diff] exact match in snippet view article find links to article

Cellini E, Piacentini S, Nacmias B, et al. (2003). "A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia". Arch. Neurol

AFG3L2 (518 words) [view diff] exact match in snippet view article find links to article

Brusco A, Di Bella D, Cagnoli C, Seri M, Gellera C, et al. (2008). "Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized

Mitali Mukerji (2,873 words) [view diff] exact match in snippet view article find links to article

evidence of the mechanisms behind ataxias. Her work in studying spinocerebellar ataxia identifies a repeat expansion mutation as the cause of the disorder

COX6C (579 words) [view diff] exact match in snippet view article find links to article

cytochrome oxidase subunits in Alzheimer's disease and in hereditary spinocerebellar ataxia disorders: a nonspecific change?". J. Neurochem. 72 (2): 700–7.

Mohr–Tranebjærg syndrome (1,034 words) [view diff] exact match in snippet view article find links to article

syndrome Usher syndrome type 1 and 2 Wolfram syndrome X-linked spinocerebellar ataxia type 3 and 4 The treatment for Mohr-Tranebjærg vary depending on

Guilherme Karan (534 words) [view diff] exact match in snippet view article find links to article

Machado-Joseph disease, a degenerative syndrome, also known as spinocerebellar ataxia type 3, which compromises motor coordination and control over muscles

Cure Rare Disease (730 words) [view diff] exact match in snippet view article find links to article

dystrophy, various subtypes of Limb-girdle muscular dystrophy, spinocerebellar ataxia type 3 (SCA3), and ADSSL1 distal myopathy. As of 2022, none of these

Jack Russell Terrier (6,212 words) [view diff] exact match in snippet view article find links to article

2014 study identified the KCNJ10 gene as being responsible for the spinocerebellar ataxia accompanied by myokymia and/or seizures in the breed. This condition

ARID1B (1,445 words) [view diff] exact match in snippet view article find links to article

Imbert G, Saudou F, Yvert G, et al. (1996). "Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine

Breakthrough Prize in Life Sciences (354 words) [view diff] exact match in snippet view article find links to article

discoveries of the genetic causes and biochemical mechanisms of spinocerebellar ataxia and Rett syndrome, findings that have provided insight into the

GRID2 (2,151 words) [view diff] exact match in snippet view article find links to article

classified as an ataxia with oculomotor apraxia (AOA) and has been named spinocerebellar ataxia, autosomal recessive type 18 (SCAR18). A gain of channel function

Transcription elongation regulator 1 (1,194 words) [view diff] exact match in snippet view article find links to article

(2003). "Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India". Neurosci. Lett.

Finnish heritage disease (1,459 words) [view diff] exact match in snippet view article find links to article

of choroid and retina Hydrolethalus syndrome 1 Infantile-onset spinocerebellar ataxia (Mitochondrial DNA depletion syndrome 7) Lactase deficiency, congenital

List of diseases (A) (1,972 words) [view diff] exact match in snippet view article

congenital Anemia, pernicious Anemia, sideroblastic Anemia sideroblastic spinocerebellar ataxia Anencephaly Anencephaly spina bifida X linked Aneurysm Aneurysm

Naomichi Matsumoto (914 words) [view diff] exact match in snippet view article find links to article

a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation". The American Journal of Human Genetics

HSPA1B (1,999 words) [view diff] exact match in snippet view article find links to article

novel nuclear DnaJ protein, DNAJC8, can suppress the formation of spinocerebellar ataxia 3 polyglutamine aggregation in a J-domain independent manner". Biochemical

Antisense therapy (2,476 words) [view diff] case mismatch in snippet view article find links to article

Pelizaeus–Merzbacher disease, and prion disease, Rett syndrome, spinocerebellar Ataxia Type 3. Antisense Antisense mRNA Locked nucleic acid Morpholino

John David Spillane (1,489 words) [view diff] exact match in snippet view article find links to article

Spillane, J. D. (3 December 1955). "The effect of nicotine on spinocerebellar ataxia". Br Med J. 2 (4952): 1345–1351. doi:10.1136/bmj.2.4952.1345. PMC 1981601

Valeria Gazzola (1,429 words) [view diff] exact match in snippet view article find links to article

perception recruits the cerebellum and is impaired in patients with spinocerebellar ataxia". Brain. 142 (12): 3791–3805. doi:10.1093/brain/awz337. ISSN 0006-8950

PITRM1 (1,668 words) [view diff] exact match in snippet view article find links to article

progressive syndrome. Clinical features include mental retardation, spinocerebellar ataxia, cognitive decline and psychosis. A mouse model hemizygous for PITRM1

TTC19 (1,329 words) [view diff] exact match in snippet view article find links to article

sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient". BMC Neurol. 14: 5. doi:10.1186/1471-2377-14-5. PMC 3890717

Andermann syndrome (1,622 words) [view diff] exact match in snippet view article find links to article

Dogs show a different phenotype from humans, with predominantly spinocerebellar ataxia. Autopsy examination of eight cases has shown both developmental

Neuroanatomy (4,947 words) [view diff] exact match in snippet view article find links to article

including the neurodegenerative disorders Parkinson's, Huntington's, spinocerebellar ataxia and Alzheimer's disease. In spite of the large evolutionary distance

List of American University of Beirut alumni (1,722 words) [view diff] exact match in snippet view article find links to article

uncover genes and mechanisms responsible for Rett syndrome and spinocerebellar ataxia neurological disorders) Alfred Tarazi (artist) Mohamad Noah bin

Shinya Yamanaka (3,481 words) [view diff] exact match in snippet view article find links to article

LEOPARD syndrome, type 1 and 2 long QT syndrome - Alzheimer’s, Spinocerebellar ataxia, Huntington’s etc. iPS cells provide screening platforms for development

L. S. Shashidhara (2,593 words) [view diff] case mismatch in snippet view article find links to article

Homologue of Ataxin-2 Binding Protein: Toward a Fruit Fly Model of Spinocerebellar Ataxia Type 2?". Alternatives to Laboratory Animals. 39 (1): 70. P R Rao

Ion channel (5,308 words) [view diff] exact match in snippet view article find links to article

heavy exertion such as exercise. Familial hemiplegic migraine (FHM) Spinocerebellar ataxia type 13 Long QT syndrome is a ventricular arrhythmia syndrome caused

Nancy Bonini (2,940 words) [view diff] exact match in snippet view article find links to article

after the discovery that long polyQ expansions in ataxin-2 cause spinocerebellar ataxia type 2, a neurodegenerative disorder involving abnormalities of

DNA ligase 3 (3,749 words) [view diff] exact match in snippet view article find links to article

Caldecott KW (March 2005). "Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1". Nature. 434 (7029): 108–13. Bibcode:2005Natur

Androgen receptor (9,390 words) [view diff] exact match in snippet view article find links to article

Burright EN, Merry DE, Fischbeck KH, Orr HT, et al. (September 1996). "Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with

List of diarists (6,869 words) [view diff] exact match in snippet view article find links to article

connoisseur Aya Kitō (木藤亜也, 1962–1988), Japanese sufferer from spinocerebellar ataxia Paul Klee (1879–1940), Swiss-German painter Victor Klemperer (1881–1960)

Infrared Nanospectroscopy (AFM-IR) (7,822 words) [view diff] exact match in snippet view article

pathways of the Josephin domain of ataxin-3, responsible for type-3 spinocerebellar ataxia, an inheritable protein-misfolding disease, AFM-IR was used to characterize

Deaths in May 1988 (3,382 words) [view diff] exact match in snippet view article find links to article

the Visual and Performing Arts. Aya Kitō, 25, Japanese diarist, spinocerebellar ataxia. David Schoenbrun, 73, American broadcast journalist (CBS), heart

List of women neuroscientists (9,011 words) [view diff] exact match in snippet view article find links to article

Lebanese-American geneticist known for research in the Rett syndrome and spinocerebellar ataxia type 1 Urtė Neniškytė (born 1983), researching the interaction of