Results 161 to 170 of about 121,621 (353)
Abstract Background Parkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale.
Roser Pons+16 more
wiley +1 more source
Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival
Movement Disorders Clinical Practice, EarlyView.
Silvestre Cuinat+6 more
wiley +1 more source
HTLV-1-associated myelopathy/tropical spastic paraparesis
C. Bangham+3 more
semanticscholar +1 more source
Levodopa‐Responsive Dystonia Secondary to CTNNB1 Neurodevelopmental Disorder
Movement Disorders Clinical Practice, EarlyView.
Hanin Algethami+5 more
wiley +1 more source
Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients
Abstract Background Hereditary ataxias are genetically diverse, yet up to 75% remain undiagnosed due to technological and financial barriers. The GGC repeat expansion in ZFHX3, responsible for spinocerebellar ataxia type 4 (SCA4), has only been described in individuals of Northern Europeandescent.
Paula Saffie‐Awad+22 more
wiley +1 more source
A CASE OF SPINAL SPASTIC PARALYSIS (PRIMARY LATERAL SCLEROSIS) [PDF]
I. T. Broadwin
openalex +1 more source
Abstract Background Very long chain fatty acids (VLCFAs) are an integral component of myelin and the epidermal water barrier. Variants in genes encoding enzymes responsible for catalyzing the first and rate limiting step in the production of VLCFAs, elongation of VLCFAs (ELOVLs), underlie a novel group of metabolic disorders. Objectives The goal was to
Keit Men Wong+24 more
wiley +1 more source