Results 171 to 180 of about 10,901 (243)
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT Biallelic pathogenic variants in PNPT1 cause combined oxidative phosphorylation deficiency 13 (COXPD13) (MIM #614932), linking mitochondrial dysfunction to type I interferon (IFN) activation through cytosolic leakage of mitochondrial double‐stranded RNA (mt‐dsRNA).
Dan Ross Brooks +15 more
wiley +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
Distinct roles of brain activity and somatotopic representation in pathophysiology of focal dystonia. [PDF]
Hum Brain Mapp, 2019 Uehara K +5 more
europepmc +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.This work demonstrates how recognition of body region dysmorphology patterns improves prediction of genetic disorders causing congenital heart disease (CHD). Findings highlight possible abnormal developmental pathways underlying CHD types and craniofacial development.
Benjamin M. Helm +3 more
wiley +1 more source
Top-down alteration of functional connectivity within the sensorimotor network in focal dystonia. [PDF]
Neurology, 2019 Battistella G, Simonyan K.
europepmc +1 more source
European Journal of Neurology, Volume 33, Issue 7, July 2026.ABSTRACT Introduction Ataxia‐telangiectasia (AT) is characterized by progressive cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased cancer susceptibility. No disease‐modifying treatment is available. This systematic review aimed to evaluate the efficacy and safety of pharmacological interventions for ataxia in pediatric AT. Method A
Fabiola Panvino +6 more
wiley +1 more source
The direct basal ganglia pathway is hyperfunctional in focal dystonia. [PDF]
Brain, 2017 Simonyan K +4 more
europepmc +1 more source
Journal of Gastroenterology and Hepatology, Volume 41, Issue 7, Page 2043-2061, July 2026.The first Australian guidance document on the assessment and management of idiopathic gastroparesis (IGP) reconceptualises IGP as a sensorimotor disorder. It proposes a novel multidisciplinary treatment algorithm and 20 high‐consensus recommendations, addressing common overlapping disorders, and providing clear guidance on associated disordered eating ...
Trina Kellar +11 more
wiley +1 more source
Task-specificity in focal dystonia is shaped by aberrant diversity of a functional network kernel. [PDF]
Mov Disord, 2018 Fuertinger S, Simonyan K.
europepmc +1 more source