Results 131 to 140 of about 15,463 (269)

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study [PDF]

, 2006
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in
BANFI S, BARBIERI, FABRIZIO, CASALI C., CHESSA L, CRISCUOLO C, DE MICHELE, GIUSEPPE, DI GIANDOMENICO S, FILLA, ALESSANDRO, GALLOSTI L, GRIECO GS, MANCINI P, PIANE M, PIERELLI F, RIZZUTO N, SACCA', FRANCESCO, SANTORELLI FM   +15 more
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Beclin 1 mitigates motor and neuropathological deficits in genetic mouse models of Machado-Joseph disease [PDF]

, 2017
Machado-Joseph disease or spinocerebellar ataxia type 3, the most common dominantly-inherited spinocerebellar ataxia, results from translation of the polyglutamine-expanded and aggregation prone ataxin 3 protein.
Albuquerque, David, Aveleira, Célia, Déglon, Nicole, Hirai, Hirokazu, Nascimento-Ferreira, Isabel, Nóbrega, Clévio, Onofre, Isabel, Pereira de Almeida, Luís, Vasconcelos-Ferreira, Ana   +8 more
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Functional implications of paralog genes in polyglutamine spinocerebellar ataxias. [PDF]

Hum Genet, 2023
Felício D, du Mérac TR, Amorim A, Martins S.   +3 more
europepmc   +1 more source

Magnetic Resonance Imaging and Its Clinical Correlation in Spinocerebellar Ataxia Type 3: A Systematic Review [PDF]

, 2022
Kah Hui Yap, Hanani Abdul Manan, Noorazrul Yahya, Shahrul Azmin, Shahizon Azura Mohamed Mukari, Norlinah Mohamed Ibrahim   +5 more
openalex   +1 more source

Spinocerebellar ataxia type-7: Report of a family in Northwest Nigeria

, 2016
NuraHamidu Alkali, SundayA Bwala, SaeedA Alimi, Shyngle Oyakhire   +3 more
openalex   +2 more sources

Clinical value of vestibulo-ocular reflex in the differentiation of spinocerebellar ataxias. [PDF]

Sci Rep, 2023
Kim JM, Nam TS, Choi SM, Kim BC, Lee SH.
europepmc   +1 more source

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3 [PDF]

, 2008
Xi Chen, Tie-Shan Tang, Huiping Tu, Omar L. Nelson, Mark A. Pook, Robert E. Hammer, Nobuyuki Nukina, Ilya Bezprozvanny   +7 more
openalex   +1 more source

Examination of the characteristics of trinucleotide repeat disorders with polyglutamin extension in Hungarian and international patients [PDF]

, 2009
6
Balikó László Tamás
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Clinical phenotype and genetic mutation of one case with head tremor and cerebellar atrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Objective To make the diagnosis for a patient presented with head tremor and cerebellar atrophy by integrating clinical features and accessory examination with genetic testing and to explore the interpretation of genetic testing results.
Kun-ming XIE, Wei-hong GU, Ying HAO, Yuan-yuan CHEN, Jin ZHANG, Xin ZHANG   +5 more
doaj  

Neuropsychological Features of Patients with Spinocerebellar Ataxia (SCA) Types 1, 2, 3, and 6 [PDF]

, 2010
Ina Klinke, Martina Minnerop, Tanja Schmitz‐Hübsch, Marc P. H. Hendriks, Thomas Klockgether, Ullrich Wüllner, Christoph Helmstaedter   +6 more
openalex   +1 more source