Results 121 to 130 of about 7,196 (214)

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

Brain Pathology, Volume 36, Issue 4, July 2026.
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

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1261-1266, June 2026.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Magnetic resonance imaging in spinocerebellar ataxias

, 2008
Magnetic resonance (MR) imaging is widely used to visualize atrophic processes that occur during the pathogenesis of spinocerebellar ataxias (SCAs). T1-weighted images are utilized to rate the atrophy of cerebellar vermis, cerebellar hemispheres, pons ...
Schulz, Joerg B., Luft, Andreas R., Hauser, Till-Karsten, Borkert, Johannes, Doehlinger, Susanne   +4 more
core   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, Volume 99, Issue 6, Page 1363-1378, June 2026.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Genetic Variants and Clinical Characteristics of Young‐Onset Parkinson's Disease in the Hakka Population of Western Fujian

Brain and Behavior, Volume 16, Issue 6, June 2026.
In 33 Hakka young‐onset Parkinson's disease (YOPD) patients from western Fujian, whole exome sequencing (WES) plus spinocerebellar ataxia (SCA) panel testing and multiplex ligation‐dependent probe amplification (MLPA) defined the genetic spectrum. Pathological ATXN2 repeat expansion was detected in two cases.
Li‐Ying Pan, Fang Guo, Chong Zheng, Xiao‐Hong Hu, Yan‐Gui Chen, Rong‐Rong Lin   +5 more
wiley   +1 more source

Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese

Arquivos de Neuro-Psiquiatria
Introduction: The clinical assessment of patients with ataxias requires reliable scales. We aimed to translate, adapt and validate the International Cooperative Ataxia Rating Scale (ICARS) into Brazilian Portuguese. Methods: The steps of this study were
Fernanda Aparecida Maggi, Pedro Braga-Neto, Hsin Fen Chien, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Mariana Callil Voos, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +9 more
doaj   +1 more source

The psychological experience of living at risk of an autosomal dominant neurological condition: A scoping review

Alzheimer's &Dementia: Behavior &Socioeconomics of Aging, Volume 2, Issue 2, June 2026.
Abstract As our understanding of genetic risk and the availability of genetic testing increases, consideration of the psychological impact of living at risk for an autosomal dominant neurological condition (ADNC) becomes more pertinent. A systematic search of PsycINFO, MEDLINE, and Web of Science was run to identify studies exploring the psychological ...
Rhianna Brien, Simon Mead, Marc Tibber, Edgar Chan   +3 more
wiley   +1 more source

Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3

Arquivos de Neuro-Psiquiatria
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of
Hélio A. G. Teive, Adriana Moro, Walter O. Arruda, Salmo Raskin, Gladys M. G. Teive, Norberto Dallabrida, Renato P. Munhoz   +6 more
doaj   +1 more source

Edible Fungus Compound Cordycepin Protects Against Acetaminophen‐Induced Liver Injury

Journal of Clinical Laboratory Analysis, Volume 40, Issue 11, June 2026.
This study demonstrates that pretreatment with cordycepin (COR) effectively protects against acetaminophen (APAP)‐induced acute liver injury in mice. COR mitigates liver damage by exerting strong antioxidant, anti‐inflammatory, and anti‐apoptotic effects through the modulation of ER proteostasis, HIF‐1, and PPAR signaling networks.
Chunjin Fu, Shuyu Li, Shengnan Shen, Chengchao Xu, Jingjing Liao, Na Lin   +5 more
wiley   +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 ...
Pulst, SM, Otis, TS, Meera, P
core