Results 1 to 10 of about 9,196 (170)

Renpenning syndrome caused by the c.459_462delAGAG mutation in PQBP1: a case report and literature review. [PDF]

Front Genet
Zhang M, Liu M, Wang R, Ma F, Mao G.
europepmc   +1 more source

Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review. [PDF]

Int J Mol Sci
Bernardi E, López-Lombardía Ó, Olmedo-Saura G, Pagonabarraga J, Kulisevsky J, Pérez-Pérez J.   +5 more
europepmc   +1 more source

Cerebello-Brainstem Dominant Form of X-linked Adrenoleukodystrophy Without Apparent Brain MRI Abnormalities at Disease Onset. [PDF]

Cerebellum
Nakagawa Y, Sugiyama A, Shibuya K, Yokota H, Matsukawa T, Ishiwata K, Mori M.   +6 more
europepmc   +1 more source

CAG-targeting artificial miRNA with reduced off-target risk for efficient lowering of pathogenic polyglutamine proteins. [PDF]

NAR Mol Med
Pewinska-Kolodziejczak M, Kotowska-Zimmer A, Przybyl L, Wronka D, Karlik A, Smuszkiewicz M, Balcerek J, Suszynska-Zajczyk J, Piaszyk-Borychowska A, Urbanek-Trzeciak M, Sablok G, Kozlowska E, Podkowinski J, Fiszer A, Kozlowski P, Handschuh L, Olejniczak M.   +16 more
europepmc   +1 more source

Polyglutamine Ataxias in Denmark: Incidence and Relative Frequencies of SCA1, 2, 3, 6, 7, 17 and DRPLA in a Nationwide Cohort. [PDF]

Cerebellum
Waerling RD, Blechingberg J, Kayser J, Lindquist SG, Vinther-Jensen T, Nielsen JE, Duno M.   +6 more
europepmc   +1 more source

Editorial: Proteostasis disruption in neurodegenerative disorders: mechanisms and treatment strategies. [PDF]

Front Mol Neurosci
Weber JJ, Taniguchi H, Sokolov M.
europepmc   +1 more source

Pediatric-onset spinocerebellar ataxia type 3 with dual <i>ATXN3</i> and <i>HTT</i> gene mutations: a case report and literature-informed hypothesis. [PDF]

Front Genet
Wang D, Zhou M, Du K, Wang Y, Tang K, Duan Y, Shi M, Wu H.   +7 more
europepmc   +1 more source

Polyglutamine-Expanded Ataxin-3 Accelerates CFTR Degradation Through K63-Linked Ubiquitination to Exacerbate Microglial Inflammation. [PDF]

ASN Neuro
Wang Z, Fan X, Bai B, Song M, Shi Y, Zhao Y, Xie P, Shi T, He C, Hu Y, Wu Q, Hou X.   +11 more
europepmc   +1 more source

Interdependence of amyloid formation in yeast: implications for polyglutamine disorders and biological functions. [PDF]

Prion, 2010
Urakov VN, Vishnevskaya AB, Alexandrov IM, Kushnirov VV, Smirnov VN, Ter-Avanesyan MD.   +5 more
europepmc   +1 more source

Oligodendrocyte dysfunction contributes to motor deficits and Purkinje cell axonopathy in spinocerebellar ataxia type 1. [PDF]

J Clin Invest
Lee C, Grijalva RM, Tejwani L, Bae E, Chase A, Ro H, Kim H, Olmos V, Orengo JP, Lim J.   +9 more
europepmc   +1 more source