Results 161 to 170 of about 77,939 (326)
Movement Disorders, EarlyView.(1) To sample subjective patient rating using the Visual Analogue Scale (VAS), random stimulation parameters were presented to the study subjects. (2) Next, corresponding volumes of tissue activated (VTA) were generated and paired with VAS values.
Sophia Peschke +9 more
wiley +1 more source
Late onset of Huntington's disease [PDF]
, 1985 Twenty-five patients with late-onset Huntington's disease were studied; motor impairment appeared at age 50 years or later. The average age at onset of chorea was 57.5 years, with an average age at diagnosis of 63.1 years.
Myers, R. H. +7 more
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Movement Disorders, EarlyView.Abstract Background Primary brain calcification (PBC) is a genetic disease featuring movement disorders, cognitive impairment, and/or psychiatric symptoms. Computed tomography (CT) scan identifies brain calcification but poorly correlates with patients' clinical phenotype; the role of magnetic resonance imaging (MRI) is yet undefined.
Giovanni Librizzi +9 more
wiley +1 more source
Refractory Motor Complications: Towards a Pragmatic Definition
Movement Disorders Clinical Practice, EarlyView.
Georg Ebersbach, Tobias Warnecke
wiley +1 more source
Brain Pathology, EarlyView.Increases in sphingomyelin in response to TDP‐43 pathology in the disease‐affected motor cortex of amyotrophic lateral sclerosis (ALS) brain. Abstract Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease characterized by the degeneration of motor neurons and the presence of TAR DNA‐binding protein 43 (TDP‐43 ...
Finula I. Isik +4 more
wiley +1 more source
Community Dentistry and Oral Epidemiology, EarlyView.ABSTRACT Objectives The objective of this scoping review was to map existing literature on oral health and related care in individuals with Motor Neurone Disease (MND). Specifically, the review aimed to identify barriers and facilitators to maintaining oral hygiene, summarise available clinical guidelines and patient‐facing resources, and examine how ...
Mariam A. Khokhar +3 more
wiley +1 more source
The Genetic Landscape of Hereditary Spastic Paraplegia in Greece
Clinical Genetics, EarlyView.We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis +19 more
wiley +1 more source
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. [PDF]
, 2019 COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families.
Adams, David +20 more
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