Results 71 to 80 of about 15,463 (269)

Spinocerebellar Ataxia

Pediatric Neurology Briefs, 1988
The onset below 15 years of age of autosomal dominant spinocerebellar ataxia (SCA) in 6 of 41 affected patients is reported from the Dept of Pediatrics, Baylor College of Medicine, Houston, TX.
openaire   +3 more sources

Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Spinocerebellar ataxia (SCA) is a rare, genetic neurodegenerative movement disorder primarily affecting the cerebellum. So far, there is no available cure for SCA. However, evidence suggests that neurorehabilitation can alleviate symptoms.
Colette J.M. Reniers, Martin E. Johansson, Karen Huisman‐Venrooij, Ivan Toni, Vivian Weerdesteyn, Bart P.C. van de Warrenburg   +5 more
wiley   +1 more source

Modulation of the Stress Granule Component Carhsp1 Mitigates Disease‐Associated Deficits in Spinocerebellar Ataxia Type 3 Mouse Models

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ) neurogenerative disorder that results from CAG trinucleotide repeat expansions in the ATXN3 gene, leading to toxic protein aggregate formation and cellular pathway dysfunction.
Tiago Moreira‐Gomes, Adriana Marcelo, Ana Teresa Rajado, Rafael G. Costa, Ricardo Afonso‐Reis, Cristiana R. Madeira, Inês T. Afonso, David V.C. Brito, Adriana A. Vaz, Clévio Nóbrega   +9 more
wiley   +1 more source

Protocolo de procesamiento de electrooculogramas para la evaluación y el seguimiento de pacientes con Ataxia Espinocerebelosa tipo 2

Informática y Sistemas, 2017
The analysis of eye movements is an useful tool to evaluate various neurological disfunctions, among them is the Spinocerebellar Ataxia Type 2 (SCA2).
Roberto A. Becerra García, Gonzalo Joya Caparros, Luis Velázquez Pérez   +2 more
doaj   +1 more source

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +1 more source

Roles of Post-translational Modifications in Spinocerebellar Ataxias

Frontiers in Cellular Neuroscience, 2018
Post-translational modifications (PTMs), including phosphorylation, acetylation, ubiquitination, SUMOylation, etc., of proteins can modulate protein properties such as intracellular distribution, activity, stability, aggregation, and interactions ...
Linlin Wan, Keqin Xu, Zhao Chen, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Hong Jiang, Hong Jiang, Hong Jiang, Hong Jiang, Hong Jiang   +14 more
doaj   +1 more source

Análise volumétrica de cerebelo e tronco cerebral de pacientes com doença de Machado Joseph [PDF]

, 2011
Machado-Joseph disease, or spinocerebellar ataxia type 3(MJD/SCA3), is the most frequent late onset spinocerebellar ataxia and results from a CAG repeat expansion in the ataxin-3 gene. Previous studies have found correlation between atrophy of cerebellum
CAMARGOS, S T, MARQUES-JR, W, SANTOS, A C   +2 more
core   +2 more sources

PLD3 and spinocerebellar ataxia [PDF]

Brain, 2018
sponsorship: Funding was provided by the Alzheimer Forschung Initiative e.V. (M.D.) and the Deutsche Forschungsgemeinschaft (GRK 1459) (P.S.). AC.G. is supported by the Hans & Ilse Breuer foundation. D.M. is supported by National Institutes of Health (NIH) grant R21AI126011. (Alzheimer Forschung Initiative e.V., Deutsche Forschungsgemeinschaft|GRK 1459,
Gonzalez, Adriana Carolina, Stroobants, Stijn, Reisdorf, Pia, Gavin, Amanda Lee, Nemazee, David, Schwudke, Dominik, D'Hooge, Rudi, Saftig, Paul, Damme, Markus   +8 more
openaire   +4 more sources

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, EarlyView.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

Professor Wadia’s contributions to neurology and spinocerebellar ataxia type 2

Arquivos de Neuro-Psiquiatria
The authors present a historical review of the seminal contributions of Professor N. H. Wadia (1925-2016) to neurology, in particular, the first description of spinocerebellar ataxia type 2.
Fernando Spina Tensini, José Luiz Pedroso, Orlando G.P. Barsottini, Hélio A. G. Teive   +3 more
doaj   +1 more source