Results 191 to 200 of about 9,201,564 (391)

Huntington disease patients and transgenic mice have similar pro-catabolic serum metabolite profiles [PDF]

open access: bronze, 2006
Benjamin R. Underwood   +10 more
openalex   +1 more source

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

open access: yesCell, 1993
M. MacDonald   +57 more
semanticscholar   +1 more source

Dysphagia in Huntington's Disease: An Evaluation of Swallowing Disturbance across the HD‐ISS Staging Spectrum

open access: yesMovement Disorders Clinical Practice, EarlyView.
ABSTRACT Background The onset and pattern of progression of swallowing impairment in HD remain poorly understood. The Swallowing Disturbance Questionnaire (SDQ) has proven useful in assessing dysphagia across various neurological conditions, but its use in HD remains largely unexplored. Objectives To evaluate swallowing difficulties in HD using the SDQ
Japleen Kaur   +3 more
wiley   +1 more source

Neural Mechanisms of Object Location Memory in Huntington's Disease

open access: yesMovement Disorders, EarlyView.
ABSTRACT Background Object‐location memory impairment in Huntington's disease (HD) occurs from premanifest period and declines as HD progresses, however, pathogenesis of object‐location memory is unknown. The striatum and hippocampus are affected in HD, functionally interacting allowing intact object‐location memory.
Yifat Glikmann‐Johnston   +4 more
wiley   +1 more source

Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Giulia Scacciatella   +15 more
wiley   +1 more source

Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

open access: yesMovement Disorders, EarlyView.
Abstract Background Breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) in basal ganglia cells through hydrolysis of diesteric bonds, primarily by PDE10A and PDE1B, is essential for normal human movement. While biallelic loss‐of‐function variants in PDE10A are known to cause hyperkinetic movement disorders, the ...
Tomer Poleg   +21 more
wiley   +1 more source

Predictability of Age at Onset in Huntington Disease in the Dutch Population

open access: bronze, 2002
Anneke Maat‐Kievit   +8 more
openalex   +1 more source

Calcium Homeostasis and Mitochondrial Dysfunction in Striatal Neurons of Huntington Disease [PDF]

open access: hybrid, 2007
Dmitry Lim   +6 more
openalex   +1 more source

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