Results 131 to 140 of about 11,691 (245)
Phenotypic characteristics of paroxysmal dyskinesia in 25 cats
Journal of Small Animal Practice, EarlyView.Objectives Paroxysmal dyskinesia has, to date, been reported only systematically in Sphynx cats. This study aims to describe paroxysmal dyskinesia in additional breeds. Materials and Methods The medical records of cats from multiple hospitals presenting with episodes consistent with paroxysmal dyskinesia between 2020 and 2025 were retrospectively ...
T. Liatis +5 more
wiley +1 more source
, 2007 Sleep-disordered breathing and sleep-related motor phenomena are part of the clinical spectrum of multiple system atrophy (MSA). Stridor has been attributed to denervation of laryngeal muscles or instead to dystonic vocal cord motion.
Liguori R +16 more
core +1 more source
Transient improvement induced by motor fatigue in focal occupational dystonia: The handgrip test
, 2001 Muscle fatigue induced by a previous sustained contraction temporarily decreases the motor output, transiently worsening motor performance. Whether muscle fatigue alters motor performance also in dystonia.
S. Barbieri +3 more
core +1 more source
Effects of Deep Brain Stimulation on Adductor Laryngeal Dystonia
The Laryngoscope, Volume 136, Issue 7, Page 3085-3096, July 2026.This study evaluated how globus pallidus interna (GPi) versus ventral intermediate nucleus (VIM) deep brain stimulation (DBS) affects objective voice measures in patients with adductor laryngeal dystonia. GPi‐DBS was associated with greater improvements in voicing, voice breaks, and intensity modulation, while VIM‐DBS showed greater improvement in ...
Rita R. Patel +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source
Cervical dystonia affects aimed movements of non dystonic segments
, 2009 Patients with focal dystonia exhibit proprioception abnormalities that can lead to kinematic deficits. Proprioceptive abnormalities are present in both symptomatic and asymptomatic body parts of dystonic patients.
PELOSIN, ELISA +4 more
core +1 more source
Journal of the California Dental Association, 2006 This article reviews three of the involuntary hyperkinetic motor disorders that affect the orofacial region, namely orofacial dystonia, oromandibular dyskinesia, as well as medication-induced extrapyramidal syndrome-dystonic reactions. Specifically, it discusses and contrasts the clinical features and management strategies for spontaneous primary and ...
openaire +2 more sources
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 +9 more
wiley +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 +42 more
wiley +1 more source