Results 161 to 170 of about 121,621 (353)

Development and Preliminary Validation of a Parkinsonism‐Dystonia Scale for Infants and Young Children

open access: yesMovement Disorders, EarlyView.
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

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Silvestre Cuinat   +6 more
wiley   +1 more source

Infantile Spastic Hemiplegia [PDF]

open access: green, 1922
Brenda Brouwer
openalex   +1 more source

HTLV-1-associated myelopathy/tropical spastic paraparesis

open access: yesNature Reviews Disease Primers, 2015
C. Bangham   +3 more
semanticscholar   +1 more source

Levodopa‐Responsive Dystonia Secondary to CTNNB1 Neurodevelopmental Disorder

open access: yes
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

open access: yesMovement Disorders, EarlyView.
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

Vitamin C Deficiency Presenting with Progressive Gait Difficulty, Myopathy, and Movement Disorder in a Toddler

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Vanessa Hwee Ling Ng   +5 more
wiley   +1 more source

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis

open access: yesMovement Disorders, EarlyView.
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

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