Results 111 to 120 of about 27,582 (263)
Abstract In the late fifteenth century, the Hungarian royal court at Buda was home to a cosmopolitan community of humanists. In early modern historiography, this cultural milieu has often been interpreted as one of the new, emergent ‘centres’ of the Renaissance in East Central Europe.
Eva Plesnik
wiley +1 more source
Review of deutetrabenazine: a novel treatment for chorea associated with Huntington's disease
Marissa Dean, Victor W Sung Department of Neurology, Division of Movement Disorders, University of Alabama at Birmingham, Birmingham, AL, USA Abstract: Deutetrabenazine was recently approved for the treatment of chorea in Huntington’s disease (HD)
Dean M, Sung VW
core
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
Isolated Chorea Associated with LGI1 Antibody
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
ABSTRACT Arginase 1 deficiency (ARG1‐D) is an ultra‐rare urea cycle disorder characterized by progressive spastic paraplegia, developmental delay, epilepsy, and episodic hyperammonemia. Evidence on prevalence and clinical presentation is scarce. Therefore, epidemiology and the phenotypical spectrum were assessed in Germany, Austria, and Switzerland ...
Svenja Scharre +19 more
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Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov +42 more
wiley +1 more source
1. The frequency of Chorea Gravidarum at the Royal Maternity and Simpson Memorial Hospital, Edinburgh is 1 in 920. 2. It is the same condition as Sydenham's chorea in children, modified slightly by the pregnant state 3.
Mackenzie, Ashley M.
core
Dancing with disorder: chorea – an unusual and neglected manifestation of antiphospholipid syndrome
Objectives Chorea, characterised by involuntary, irregular movements, is a rare neurological manifestation of antiphospholipid syndrome (APS). The specific clinical features remain unclear.
Xiaofeng Zeng +4 more
doaj +1 more source

