Results 251 to 260 of about 189,433 (365)

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

A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats [PDF]

open access: green, 2007
John C. Fyfe   +9 more
openalex   +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

Quality of life in hereditary neuromuscular diseases

open access: gold, 2004
Marco Piccininni, C. Falsini, A. Pizzi
openalex   +1 more source

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