Results 111 to 120 of about 42,506 (235)

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

Steroid-responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) Presenting with Pure Cerebellar Ataxia

Tremor and Other Hyperkinetic Movements, 2018
Background: Myoclonus and tremor are common movement disorder phenomenologies in steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT). Pure ataxia without encephalopathy has rarely been reported.
Pichet Termsarasab, Yuvadee Pitakpatapee, Steven J. Frucht, Prachaya Srivanitchapoom   +3 more
doaj   +1 more source

Cellular and circuit mechanisms underlying spinocerebellar ataxias [PDF]

, 2016
Degenerative ataxias are a common form of neurodegenerative disease that affect about 20 individuals per 100,000. The autosomal dominant spinocerebellar ataxias (SCAs) are caused by a variety of protein coding mutations (single nucleotide changes ...
Meera, P, Otis, TS, Pulst, SM
core   +1 more source

Molecular insights into electroreceptor ribbon synapses from differential gene expression in sturgeon lateral line organs

Journal of Anatomy, Volume 248, Issue 5, Page 784-805, May 2026.
The expression of various genes involved in synapse development, stability and/or function was studied in developing mechanosensory neuromasts and electrosensory ampullary organs in sterlet sturgeon. Most were shared, including Slc17a8, Slc1a3 and Nrxn3, but Cbln18 was neuromast‐restricted and Tulp1 was ampullary organ‐restricted.
Alexander S. Campbell, Martin Minařík, David Buckley, Tanmay Anand, David Gela, Martin Pšenička, Clare V. H. Baker   +6 more
wiley   +1 more source

Computational analysis of calcium signaling and membrane electrophysiology in cerebellar Purkinje neurons associated with ataxia [PDF]

, 2012
BACKGROUND: Mutations in the smooth endoplasmic reticulum (sER) calcium channel Inositol Trisphosphate Receptor type 1 (IP3R1) in humans with the motor function coordination disorders Spinocerebellar Ataxia Types 15 and 16 (SCA15/16) and in a ...
Leslie M Loew, Sherry-Ann Brown
core   +2 more sources

Epigenetic analyses suggest different pathways during pregnancy for development of type 1 diabetes in children with high versus low‐neutral human leukocyte antigen‐risk

Journal of Internal Medicine, Volume 299, Issue 5, Page 570-586, May 2026.
Abstract Background and objective The development of Type 1 diabetes (T1D) is shaped by genetic predisposition and epigenetic regulation. Human leukocyte antigen (HLA) risk alleles are major genetic determinants, but the epigenetic landscape in relation to disease onset remains unclear.
Shamila D. Alipoor, Angelica Ahrens, Julia Åkesson, Thomas Hillerton, Mika Gustafsson, Maria Lerm, Johnny Ludvigsson   +6 more
wiley   +1 more source

Temporal and spatial variability in speakers with Parkinson's Disease and Friedreich's Ataxia [PDF]

, 2008
Speech variability in groups of speakers with Parkinson's disease (PD) and with Friedreich's ataxia was compared with healthy controls. Speakers repeated the same phrase 20 times at one of two rates (fast or habitual).
Anderson, Andrew, Howell, Peter, Lowit, Anja   +2 more
core  

Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia [PDF]

, 2019
Heterozygous missense variants in the SPTBN2 gene, encoding the non-erythrocytic beta spectrin 2 subunit (beta-III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult-onset neurodegenerative disorder ...
Alfieri, Paolo, Bellacchio, Emanuele, Bertini, Enrico, Capuano, Alessandro, Graziola, Federica, Nardella, Marta, Nicita, Francesco, Piccini, Giorgia, Pignata, Claudio, Terrone, Gaetano, Zanni, Ginevra   +10 more
core   +1 more source

Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease

Arquivos de Neuro-Psiquiatria
Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common form of autosomal dominant ataxia in the world. Paula Coutinho, a highly-regarded Portuguese neurologist worldwide, had a seminal participation in the definition of ...
Bruno Carniatto Marques Garcia, Francisco Manoel Branco Germiniani, Paula Marques, Jorge Sequeiros, Hélio Afonso Ghizoni Teive   +4 more
doaj   +1 more source

Treatment of Spinocerebellar Ataxia with Mesenchymal Stem Cells: A Phase I/IIa Clinical Study

Cell Transplantation, 2017
Ataxia is one of the most devastating symptoms of many neurodegenerative disorders. As of today, there is not any effective treatment to retard its progression. Mesenchymal stem cells (MSCs) have shown promise in treating neurodegenerative diseases.
Yun-An Tsai, Ren-Shyan Liu, Jiing-Feng Lirng, Bang-Hung Yang, Chin-Hao Chang, Yi-Chen Wang, Yu-Shan Wu, Jennifer Hui-Chun Ho, Oscar K. Lee, Bing-Wen Soong   +9 more
doaj   +1 more source