Results 81 to 90 of about 2,535,115 (155)
Epilepsia, Volume 67, Issue 9, Page e141-e149, September 2026.Abstract In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio‐based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still
Laura Licchetta +10 more
wiley +1 more source
, 2022 BackgroundRapid-onset dystonia parkinsonism (RDP) is a rare disease caused by ATP1A3 mutation with considerable clinical heterogeneity. Increased knowledge of RDP could be beneficial in its early diagnosis and treatment.ObjectiveThis study aimed to ...
Qing Ke (577483) +12 more
core +1 more source
From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis
Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.ABSTRACT Coenzyme A (CoA) biosynthesis is a conserved, dynamically regulated pathway essential for mitochondrial energy production, fatty acid oxidation, lipid biosynthesis and protein acylation. Biallelic variants in PANK2, PPCS, PPCDC, and COASY cause rare inborn errors of CoA biosynthesis, associated with markedly different clinical phenotypes ...
Ivano Di Meo +3 more
wiley +1 more source
Dopa-responsive dystonia and hyperprolactinaemia : a novel association in two sisters [PDF]
, 2007 Dopa-Responsive Dystonia (DRD) is a rare hereditary condition of childhood-onset dystonia which responds dramatically to treatment with levodopa. It was first described in 1971 as a "hereditary progressive basal ganglia disease with marked diurnal ...
Cachia, Mario J., Galea, Janabel
core
, 2022 BackgroundRapid-onset dystonia parkinsonism (RDP) is a rare disease caused by ATP1A3 mutation with considerable clinical heterogeneity. Increased knowledge of RDP could be beneficial in its early diagnosis and treatment.ObjectiveThis study aimed to ...
Qing Ke (577483) +12 more
core +1 more source
Gait Alterations Due to DCC Gene Variants in Individuals with Congenital Mirror Movements
Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2154-2165, September 2026.Abstract Background Congenital Mirror Movement Syndrome (CMMS) involves involuntary movements on one side of the body while voluntary movements are performed on the other side. They disrupt left–right coordination and can be caused by a pathogenic variant in the DCC gene.
Nok‐Yeung Law +7 more
wiley +1 more source
The prevalence of PRKRA mutations in idiopathic dystonia
, 2018 Introduction: DYT-PRKRA (DYT16) is considered a rare cause of dystonia-parkinsonism. The significance of this gene as a cause of dystonia and its phenotypical characterization must be determined in larger cohorts.
Ferraz, Henrique Ballalai [UNIFESP] +19 more
core +1 more source
Long-Term Efficacy and Safety of Chronic Globus Pallidus Internus Stimulation in Different Types of Primary Dystonia [PDF]
, 2009 Background: Deep brain stimulation (DBS) of the globus pallidus internus (GPi) offers a very promising therapy for medically intractable dystonia. However, little is known about the long-term benefit and safety of this procedure. We therefore performed a
Voges, J. +6 more
core +1 more source
The Application of Clinical Genetics, 2020 Alessandro Capuano,1 Giacomo Garone,1,2 Giuseppe Tiralongo,1 Federica Graziola1 1Movement Disorders Clinic, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children’s Hospital, Rome, Italy; 2University Hospital ...
Capuano A +3 more
doaj
Movement Disorders, Volume 41, Issue 9, Page 2349-2356, September 2026.Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich +21 more
wiley +1 more source