Results 91 to 100 of about 33,006 (235)

ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population

, 2012
Expansions of the polyglutamine (polyQ) domain (≥34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2). Recent studies reported that intermediate-length (27–33) expansions increase the risk of Amyotrophic Lateral Sclerosis
Hilmi Özçelik (5648923), Aslihan Özoğuz, A Nazlı Başak, A. Nazlı Başak (143417), Piraye Oflazer, Hilmi Özçelik, Zeynep Sena Ağım, Piraye Oflazer (143408), Özgür Ömür (143395), Auburger, Georg, Oflazer, Piraye, Filiz Koç (143411), Zeynep Sena Ağım (143399), Özçelik, Hilmi, Yeşim Parman, Ömür, Özgür, Feza Deymeer, Parman, Yeşim, Yeşim Parman (143403), Ağım, Zeynep Sena, Başak, Ayşe Nazlı, Aslihan Özoğuz (143401), Özoğuz, Aslihan, Özgün Uyan, Özgün Uyan (5648920), Georg Auburger (139057), Suna Lahut, Deymeer, Feza, Georg Auburger, Uyan, Özgün, Feza Deymeer (143405), Lahut, Suna, Koç, Filiz, Filiz Koç, Suna Lahut (143392), Özgür Ömür   +35 more
core   +1 more source

Cerebellar ataxias and functional movement disorders: navigating clinical overlap

BMJ Neurology Open
Background Functional movement disorders (FMDs) are commonly classified along canonical non-ataxic movement disorder patterns, creating a potential blind spot for frequently observed ataxia-like presentations. At the same time, normal diagnostic findings
Stoyan Popkirov, Dagmar Timmann, Christel Depienne, Friedrich Erdlenbruch, Andreas Thieme   +4 more
doaj   +1 more source

Cognitive and motor reserve in Parkinson's disease: Two sides of the same coin?

Journal of Neuropsychology, EarlyView.
Abstract Cognitive reserve (CR) and motor reserve (MR) are constructs that can explain why some people are more resilient than others to neurodegenerative diseases such as Parkinson's disease (PD). However, it is unclear whether these reserves exert domain‐specific or cross‐domain influences.
Isabella Anzuino, Sonia Di Tella, Alice Tondinelli, Clio Scopetani Testa, Martina Petracca, Maria Rita Lo Monaco, Anna Rita Bentivoglio, Maria Caterina Silveri   +7 more
wiley   +1 more source

Novel cell models for the study of spinocerebellar ataxia type 7 pathogenesis and therapy in a South African patient cohort

, 2012
Includes abstract.Includes bibliographical references.Spinocerebellar ataxia type 7 (SCA7) is a dominantly-inherited neurodegenerative disease, resulting from a CAG trinucleotide repeat expansion in the ataxin-7 gene.
Watson, Lauren
core  

MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2

Case Reports in Neurology, 2017
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12.
Fumihito Yoshii, Hitoshi Tomiyasu, Ryo Watanabe, Masafuchi Ryo   +3 more
doaj   +1 more source

Ca2+ signaling and spinocerebellar ataxia

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2018
Spinocerebellar ataxia (SCA) is a neural disorder, which is caused by degenerative changes in the cerebellum. SCA is primarily characterized by gait ataxia, and additional clinical features include nystagmus, dysarthria, tremors and cerebellar atrophy. Forty-four hereditary SCAs have been identified to date, along with >35 SCA-associated genes. Despite
Chihiro, Hisatsune, Kozo, Hamada, Katsuhiko, Mikoshiba   +2 more
openaire   +2 more sources

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles

Movement Disorders, EarlyView.
Cecilia Marelli, Quentin Charret, Cyril Goizet, Julien Thevenon, Virginie Bernard, Fabienne Ory Magne, Manon Degoutin, Patricia Fergelot, Mathilde Renaud, Michel Koenig, Francis Ramond   +10 more
wiley   +1 more source

Technologies for engineering repetitive DNA

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley   +1 more source

Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene

, 2011
Includes bibliographical references (leaves 106-116).Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a CAG repeat within the ataxin-7 gene. The South African SCA7 population has been shown to have
Berkowitz, Danielle Claire
core  

Aqueous extract of Glycyrrhiza inflata inhibits aggregation by upregulating PPARGC1A and NFE2L2-ARE pathways in cell models of spinocerebellar ataxia 3

, 2017
Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7, and 17 and dentatorubropallidoluysian atrophy, as well as Huntington disease, are a group of neurodegenerative disorders caused by a CAG triplet-repeat expansion encoding a long polyglutamine (polyQ ...
Chen, Chiung-Mei;Weng, Yu-Ting;Chen, Wan-Ling;Lin, Te-Hsien;Chao, Chih-Ying;Lin, Chih-Hsin;Chen, I-Cheng;Lee, Li-Ching;Lin, Hsuan-Yuan;Wu, Yih-Ru;Chen, Yi-Chun;Chang, Kuo-Hsuan;Tang, Hsiang-Yu;Cheng, Mei-Ling;Lee-Chen, Guey-Jen;Lin, Jung-Yaw, 林榮耀   +1 more
core   +1 more source