Results 131 to 140 of about 80,208 (340)
"Familial paroxysmal tremor": an essential tremor variant? [PDF]
, 1993 E García-Albea +5 more
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Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, EarlyView.Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel +10 more
wiley +1 more source
Canadian Medical Association Journal, 2017 Graeme, Schwindt, Jeremy, Rezmovitz
openaire +2 more sources
Effects of dance therapy on balance, gait and neuro-psychological performances in patients with Parkinson's disease and postural instability [PDF]
, 2012 Postural Instability (PI) is a core feature of Parkinson’s Disease (PD) and a major cause of falls and disabilities. Impairment of executive functions has been called as an aggravating factor on motor performances. Dance therapy has been shown effective
Agnetti, Virgilio +6 more
core
A gene (ETM) for essential tremor maps to chromosome 2p22‐p25 [PDF]
, 1997 Joseph Higgins +2 more
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Annals of Neurology, EarlyView.Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker +79 more
wiley +1 more source
HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
Annals of Neurology, EarlyView.Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer +52 more
wiley +1 more source
Blood α‐Synuclein Separates Parkinson's Disease from Dementia with Lewy Bodies
Annals of Neurology, EarlyView.Objective Aggregation of misfolded α‐synuclein (aSyn) within the brain is the pathologic hallmark of Lewy body diseases (LBDs), including Parkinson's disease (PD), and dementia with Lewy bodies (DLB) disease. Although evidence exists for aSyn “strains,” conformations with distinct biological properties, biomarkers for PD versus DLB are lacking.
George T. Kannarkat +17 more
wiley +1 more source
Research on advances of essential tremor
Chinese Journal of Contemporary Neurology and Neurosurgery, 2017 Recent research shows besides the symptom of tremor, essential tremor (ET) patients also present with motor symptoms such as dysfunction of cerebellum, and non-motor symptoms (NMS) such as cognitive impairment, mood symptoms and loss of hearing.
Tian XU, Guo-hua ZHAO
doaj
Clinical and Electromyographic Examinations of Patients with Essential Tremor [PDF]
, 2000 Ivan Milanov
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