Results 71 to 80 of about 52,972 (303)
DystoniaVocal impairments are a debilitating but understudied feature of several dystonias, including generalized and early-onset genetic forms. Despite growing recognition that cerebellar dysfunction contributes to dystonic pathophysiology, the circuit ...
Austin L. Fitzgerald +9 more
doaj +1 more source
, 2012 Dystonia has many facets, and among those, this book commences with the increasingly associated genes identified, including a construct on how biology interacts with the dystonia genesis.
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain +6 more
wiley +1 more source
THE GENETIC BASIS OF PRIMARY ADULT-ONSET DYSTONIA
, 2011 Objectives. To identify novel genetic loci associated with primary adult-onset dystonia (AOD) and assess candidate genes from the literature. Secondary aimes.
Esposito, Marcello
core
Annals of Neurology, EarlyView.Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral +52 more
wiley +1 more source
Investigating the molecular and cellular basis of ε-sarcoglycan-associated myoclonus-dystonia in an iPSC-derived neuronal model [PDF]
, 2023 peer reviewedSGCE-related myoclonus-dystonia (M-D) underlies the epigenetic process of imprinting. This leads to the phenomenon of reduced penetrance upon maternal transmission of a pathogenic variant.
Carlisle, Francesca +9 more
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Diagnosis and classification of blepharospasm: Recommendations based on empirical evidence
, 2022 Background: Blepharospasm is one of the most common subtypes of dystonia, and often spreads to other body regions. Despite published guidelines, the approach to diagnosis and classification of affected body regions varies among clinicians.
Anne Weissbach +12 more
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Use of antiemetics in early pregnancy 2012–2022: A cross‐sectional study
British Journal of Clinical Pharmacology, EarlyView.Aim Nausea and vomiting in pregnancy impact quality of life, yet many pregnant women feel dismissed by healthcare professionals, despite the safety of first‐line antiemetic treatments for both mother and fetus. Therefore, this study aims to describe the prevalence of patient‐reported antiemetic use in early pregnancy in Copenhagen, Denmark, the changes
Katrine Bak Wraae +6 more
wiley +1 more source
British Journal of Clinical Pharmacology, EarlyView.Background Reporting adverse drug reactions (ADRs) is essential for drug safety. In Switzerland, healthcare professionals are legally required to report serious and unlabelled ADRs, yet under‐reporting remains widespread. We tested a novel method to increase reporting of ADR‐related hospitalizations.
Georgia Anita Weber +7 more
wiley +1 more source
, 2015 Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements or abnormal postures.
Mark S. LeDoux, LeDoux, Mark S.
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