Results 141 to 150 of about 62,561 (290)

SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

open access: yesMovement Disorders, EarlyView.
Abstract Background SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry.
Bronwyn E. Grinton   +17 more
wiley   +1 more source

Neuropsychiatric‐Led Presentation of Late‐Onset Parkin‐Related Parkinson's Disease

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Sarah Fullam   +4 more
wiley   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

open access: yesMovement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux   +11 more
wiley   +1 more source

Acute Post‐Partum Psychosis and Dystonia Reveals Late‐Onset MPAN

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Mathilde Lachaume   +7 more
wiley   +1 more source

Emergencies in Amyotrophic Lateral Sclerosis

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Emergencies are frequent in people living with amyotrophic lateral sclerosis (pALS), especially as the disease progresses, and can necessitate urgent evaluation and intervention. Progressive weakness in ALS inevitably increases fall risk, making discussion of fall prevention strategies integral to caring for pALS.
S. Pinar Uysal   +9 more
wiley   +1 more source

β3‐Adrenoceptor Agonists for Neurogenic Lower Urinary Tract Dysfunction: Evidence and Clinical Rationale for First‐Line Therapy

open access: yesNeurourology and Urodynamics, EarlyView.
ABSTRACT Aims To summarize current evidence on β3‐adrenoceptor agonists for managing neurogenic lower urinary tract dysfunction (NLUTD), focusing on their efficacy, safety, and clinical role in optimizing bladder storage and protecting upper tracts. Methods Evidence from randomized controlled trials, meta‐analyses, and observational studies in spinal ...
Sharon E. Fishberg, Rano Matta
wiley   +1 more source

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