Results 161 to 170 of about 123,648 (399)

Imaging the Centromedian Thalamic Nucleus Using Quantitative Susceptibility Mapping. [PDF]

open access: yes, 2019
The centromedian (CM) nucleus is an intralaminar thalamic nucleus that is considered as a potentially effective target of deep brain stimulation (DBS) and ablative surgeries for the treatment of multiple neurological and psychiatric disorders.
Gutierrez, Lorenzo   +9 more
core  

Movement Disorders in Neuromyelitis Optica Spectrum Disorder: A Systematic Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Several movement disorders (MD) have been reported to occur in neuromyelitis optica spectrum disorder (NMOSD). No extensive review has addressed the whole spectrum of MD in NMOSD. Objective This article aims to review MD in NMOSD, describing its prevalence and features.
Luciana A.F. Bringel   +18 more
wiley   +1 more source

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. [PDF]

open access: yes, 2006
We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations ...
CRISCUOLO C   +10 more
core  

Mechanisms of GNAL linked dystonia

open access: yesDystonia
Mutations in the GNAL gene, encoding Gαolf, are causative for an adult-onset, isolated dystonia that may provide unique insights into the etiology of adult-onset idiopathic dystonia. Gαolf is an alpha subunit of heterotrimeric G protein that replaces Gαs
Mark S. Moehle
doaj   +1 more source

Survey of Human Mitochondrial Diseases Using New Genomic/Proteomic Tools [PDF]

open access: yes, 2001
BACKGROUND. We have constructed Bayesian prior-based, amino-acid sequence profiles for the complete yeast mitochondrial proteome and used them to develop methods for identifying and characterizing the context of protein mutations that give rise to human ...
Mohr, Scott C.   +2 more
core   +2 more sources

Managing Dystonia in Partington Syndrome

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Bilateral focal hand dystonia is an almost pathognomonic sign of Partington syndrome, frequently accompanied by intellectual disability and oromotor dyspraxia. However, a few studies have focused on the treatment of this focal dystonia, making patient management uncertain.
Emilie Pichon   +13 more
wiley   +1 more source

Clinical and physiological characteristics of tremor in a large cohort of focal and segmental dystonia

open access: yesDystonia
ObjectiveTremor is a frequent co-occurring feature in patients with dystonia, especially in focal and segmental dystonia. Clinical studies have shown that tremor is more commonly observed when dystonia spreads to contiguous body regions.
Zakia Jabarkheel, Aparna Wagle Shukla
doaj   +1 more source

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