Results 101 to 110 of about 50,686 (311)

a novel mutation with mild clinical presentation [PDF]

open access: yes, 2015
Background A highly variable phenotype characterized by thyroid, respiratory and neurological defects has been reported in an already established group of disorders namely NKX2.1-related disorders.
Cantasano, Antonella   +4 more
core   +1 more source

Language Impairment in Adolescents with Sydenham Chorea

open access: yesPediatric Neurology Briefs, 2015
Investigators from hospitals in Brazil tested verbal fluency in 20 adolescent patients, ages ranged from 11 to 16 years (mean 13.8 years), with Sydenham chorea compared with 20 patients with rheumatic fever without chorea and 20 healthy controls, matched
J. Gordon Millichap
doaj   +1 more source

Capturing Behavioral Symptoms in Huntington's Disease Using the Huntington's Disease‐Behavioral Questionnaire

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background The Huntington's Disease Behavioral Questionnaire (HD‐BQ) captures behavioral symptoms arising from cognitive, psychiatric, and functional domains. Recognizing the high prevalence of anosognosia in HD, the HD‐BQ incorporates patient‐ and companion‐reported versions.
Siena Rigatuso   +5 more
wiley   +1 more source

Chorea as the First Sign in a Patient with Elderly-Onset Systemic Lupus Erythematosus

open access: yesCase Reports in Neurological Medicine, 2012
The case of an elderly patient who had chorea as an initial symptom of systemic lupus erythematosus (SLE) accompanied by antiphospholipid syndrome (APS) is reported. A 68-year-old woman suddenly developed chorea of her left arm and leg.
Yuko Ariizumi   +8 more
doaj   +1 more source

Interplay Between Sex and Cytosine‐Adenine‐Guanine‐Age Product Score in Huntington's Disease: Clinical and Neuroimaging Perspectives

open access: yesMovement Disorders, EarlyView.
Abstract Background Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a cytosine‐adenine‐guanine (CAG) repeat expansion in the huntingtin gene. The disease exhibits sex‐related differences in symptomatology and disease progression, but the effect on brain structural biomarkers and the interaction between sex and CAG‐age ...
Jingwen Yao   +10 more
wiley   +1 more source

Isolated Chorea Associated with LGI1 Antibody

open access: yesTremor and Other Hyperkinetic Movements, 2014
Background: Leucine‐rich glioma inactivated 1 (LGI1) antibody produces a syndrome of limbic encephalitis, hyponatremia, and facio‐brachial dystonic seizures that is non‐paraneoplastic and responsive to corticosteroids.
Ritesh A. Ramdhani, Steven J. Frucht
doaj   +1 more source

Analysis of a Modified Version of the Inventory of Non‐Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study

open access: yesMovement Disorders, EarlyView.
Abstract Background Friedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non‐ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non‐Ataxia Signs (INAS) is a symptom list transformable to a 16‐item count.
Stella Andrea Lischewski   +23 more
wiley   +1 more source

Seizures as presenting and prominent symptom in chorea‐acanthocytosis with c.2343del VPS13A gene mutation [PDF]

open access: bronze, 2016
Felix Benninger   +9 more
openalex   +1 more source

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