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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 49 found (161 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

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

Troriluzole (261 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.

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

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

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;

Boucher-Neuhäuser syndrome (732 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

Trehalose (2,685 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

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

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

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

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

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

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.

AFG3L2 (636 words) [view diff] exact match in snippet view article find links to article

Bella D, Cagnoli C, Seri M, Gellera C, Donato S, Taroni F (2008). "Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized

Guilherme Karan (516 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

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

List of diseases (A) (1,929 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

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.

Breakthrough Prize in Life Sciences (351 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

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

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

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

Antisense therapy (2,212 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

HSPA1B (1,959 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

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

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

Andermann syndrome (1,619 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

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

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 (1,692 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) Mohamad Noah bin Omar (first speaker of

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

Neurolixis (2,006 words) [view diff] exact match in snippet view article find links to article

showed pro-motility activity in a transgenic nematode worm model of spinocerebellar ataxia type 3 (also known as SCA3 or Machado-Joseph disease), an orphan

Ion channel (5,155 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

Shinya Yamanaka (3,457 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

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 (3,804 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 (9,362 words) [view diff] exact match in snippet view article find links to article

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

List of diarists (6,849 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) (7,808 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

List of women neuroscientists (8,913 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