Results 281 to 290 of about 245,637 (381)

Benign Idiopathic Myoclonus: A New Clinical Entity?

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Myoclonus is a brief shock‐like, involuntary movement, which can be distinguished in physiologic, essential, epileptic, and symptomatic, according to its etiology. Physiologic myoclonus typically occurs in healthy people without disability or progression.
Giorgia Sciacca   +6 more
wiley   +1 more source

Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early‐Onset and Familial Parkinson's Disease

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Leucine‐rich repeat kinase 2 (LRRK2) p.L1795F variant was proposed as a genetic risk factor for Parkinson's disease (PD). However, its prevalence, phenotype, and origin remain unknown. Objective The aim was to evaluate the frequency and phenotype of p.L1795F in early‐onset PD (EOPD) and familial PD compared to healthy controls (HC ...
Miriam Ostrozovicova   +35 more
wiley   +1 more source

A Case of Congenital Neuromuscular Disease with Uniform Type 1 Fiber

open access: gold, 2004
Sang Jun Na   +5 more
openalex   +1 more source

Correlations between Dysphagia Severity Scale Scores and Clinical Indices in Individuals with Multiple System Atrophy

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Dysphagia significantly impacts prognosis in individuals with multiple system atrophy (MSA). While video‐based assessments are practical, their limited availability highlights the need for a simple tool such as the Dysphagia Severity Scale (DSS) in clinical practice.
Ryunosuke Nagao   +8 more
wiley   +1 more source

Neurodegenerative and Neurodevelopmental Roles for Bulk Lipid Transporters VPS13A and BLTP2

open access: yesMovement Disorders, EarlyView.
Abstract Background Bridge‐like lipid transfer proteins (BLTPs) mediate bulk lipid transport at membrane contact sites. Mutations in BLTPs are linked to both early‐onset neurodevelopmental and later‐onset neurodegenerative diseases, including movement disorders.
Sarah D. Neuman   +4 more
wiley   +1 more source

Treatment with trkC agonist antibodies delays disease progression in neuromuscular degeneration (nmd) mice

open access: bronze, 2005
Rocío Ruiz   +6 more
openalex   +1 more source

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