Results 151 to 160 of about 121,621 (353)
Neurodegenerative and Neurodevelopmental Roles for Bulk Lipid Transporters VPS13A and BLTP2
Movement 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
Movement Disorders, EarlyView.Abstract Background Defects of mitochondrial ATP synthase (ATPase) represent an emerging, yet incompletely understood group of neurodevelopmental diseases with abnormal movements. Objective The aim of this study was to redefine the phenotypic and mutational spectrum of movement disorders linked to the ATPase subunit‐encoding genes ATP5F1A and ATP5F1B ...
Philip Harrer +21 more
wiley +1 more source
The Brain from a Case of Cerebral Diplegic Spasticity [PDF]
, 1909 Edmund Cautley
openalex +1 more source
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders
Movement Disorders, EarlyView.Abstract Background The genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined. Objectives The objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland.
Katariina Granath +17 more
wiley +1 more source
Die Little'sche Krankheit (Congenital spastic rigidity of limbs) und die hereditäre Syphilis [PDF]
, 1898 Tommaso Amicis
openalex +1 more source
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
Brain : a journal of neurology, 2017 M. Minnerop +55 more
semanticscholar +1 more source