Results 131 to 140 of about 32,086 (242)

Comparison of expanded CAG repeat tracts in sperm and lymphocyte DNA from Machado Joseph disease and spinocerebellar ataxia type I patients [PDF]

, 1998
Debra J. Maurer, Kellie Benzow, Lawrence J. Schut, Laura P.J. Ranum, Dennis Livingston   +4 more
openalex   +1 more source

Multiomics approach identifies SERPINB1 as candidate biomarker for spinocerebellar ataxia type 2. [PDF]

Sci Rep
Almaguer-Mederos LE, Key J, Sen NE, Canet-Pons J, Döring C, Meierhofer D, Gispert-Sánchez S, Cuello-Almarales D, Almaguer-Gotay D, Osorio-González LM, Aguilera-Rodríguez R, Medrano-Montero J, Auburger G.   +12 more
europepmc   +1 more source

A Conditional Pan-NeuronalDrosophilaModel of Spinocerebellar Ataxia 7 with a Reversible Adult Phenotype Suitable for Identifying Modifier Genes [PDF]

, 2007
Morwena Latouche, Christelle Lasbleiz, Elodie Martin, Véronique Monnier, Thomas Debeir, Annick Mouatt‐Prigent, Marie‐Paule Muriel, Lydie Morel, Merle Ruberg, Alexis Brice, Giovanni Stévanin, Hervé Tricoire   +11 more
openalex   +1 more source

Identification of a Novel <i>CLPX</i> Variant in a Mixed-Breed Dog with Anemia and Spinocerebellar Ataxia. [PDF]

Genes (Basel)
de Cecco BS, Blake JM, Kim NJ, Coffey MC, Johnston AN, Miller AD, Ekenstedt KJ, Lee J.   +7 more
europepmc   +1 more source

Cerebellar developmental deficits underlie neurodegenerative disorder spinocerebellar ataxia type 23

, 2020
Cleo J. L. M. Smeets, Kai Yang, Simon E. Fisher, Dineke S. Verbeek   +3 more
openalex   +1 more source

Spinocerebellar Ataxia Type 7 (SCA7): First Report of a Systematic Neuropathological Study of the Brain of a Patient with a Very Short Expanded CAG‐Repeat [PDF]

, 2005
Udo Rüb, ER Brunt, K. Gierga, Kay Seidel, Christian Schultz, Lüdger Schöls, Georg Auburger, Helmut Heinsen, PF Ippel, WF Glimmerveen, D. Wittebol‐Post, Kimihito Arai, Thomas Deller, Rai De Vos   +13 more
openalex   +1 more source

Neurocognition, cerebellar functions and psychiatric features in spinocerebellar ataxia type 34: a case series. [PDF]

Front Comput Neurosci
Cundari M, Kirchhoff L, Vestberg S, van Westen D, Dobloug S, Markenroth Bloch K, Nilsson M, Wennberg L, Hansson B, Priovoulos N, Rasmussen A, Gorcenco S.   +11 more
europepmc   +1 more source

Dystonia in Patients With Spinocerebellar Ataxia Type 2 [PDF]

, 2015
Vladana Marković, Nataša Dragaševic‐Mišković, Iva Stanković, Igor Petrović, Marina Svetel, Vladimir Kostić   +5 more
openalex   +1 more source

Whole exome sequencing in Japanese spinocerebellar ataxia identifies novel variants. [PDF]

J Hum Genet
Watanabe T, Kume K, Inoue K, Nakamura M, Yamamoto S, Kurashige T, Ohshita T, Tazuma T, Kaido M, Maetani Y, Maruyama H, Kawakami H.   +11 more
europepmc   +1 more source

Dysphagia linked to clinical phenotype and disease progression in spinocerebellar ataxia type 3. [PDF]

Eur J Med Res
Chen CP, Cui ML, Lin W, Huang ZY, Ye BN, Cai B, Gan SR.   +6 more
europepmc   +1 more source