Zobrazeno 1 - 10
of 612
pro vyhledávání: '"Myoclonus-Dystonia"'
Publikováno v:
Cells, Vol 13, Iss 18, p 1520 (2024)
Dystonia is a movement disorder with an estimated prevalence of 1.2% and is characterised by involuntary muscle contractions leading to abnormal postures and pain. Only symptomatic treatments are available with no disease-modifying or curative therap
Externí odkaz:
https://doaj.org/article/178d3d6c27a44cf79b85915f33468926
Autor:
Alexander Calvano, Laura Beccaria, Lars Timmermann, Miriam H. A. Bopp, Marko Gjorgjevski, Christopher Nimsky, David J. Pedrosa
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionDeep brain stimulation (DBS) is an established and effective therapy for movement disorders. Here, we present a case of secondary myoclonus-dystonia syndrome following acute disseminated encephalomyelitis (ADEM) in childhood, which was al
Externí odkaz:
https://doaj.org/article/3cad72818ca741f38d951268330cb619
Autor:
Wei‐Sheng Lin
Publikováno v:
Advanced Genetics, Vol 4, Iss 2, Pp n/a-n/a (2023)
Abstract The era of next‐generation sequencing has increased the pace of gene discovery in the field of pediatric movement disorders. Following the identification of novel disease‐causing genes, several studies have aimed to link the molecular an
Externí odkaz:
https://doaj.org/article/e01fedadd1fa4e4785de603478875558
Autor:
Anjali Chouksey, Sanjay Pandey
Publikováno v:
Annals of Movement Disorders, Vol 5, Iss 2, Pp 81-92 (2022)
Myoclonus–dystonia syndrome is one of the well-defined “combined dystonia” syndromes, now observed in many conditions, including genetic and acquired. With widespread access to next-generation sequencing techniques, the list of genetic diseases
Externí odkaz:
https://doaj.org/article/49501b62c6a74a92832d8040a804b93e
Akademický článek
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Publikováno v:
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-4 (2021)
Abstract Background Myoclonus dystonia (MDS) is a dominantly inherited genetic disorder caused by loss-of-function mutations in the epsilon sarcoglycan gene (SGCE). Case presentation We here in report a twenty months old Saudi boy who presented to us
Externí odkaz:
https://doaj.org/article/10e1bd898a2a4196b6d814f7ff62d798
Publikováno v:
Neurology and Therapy, Vol 9, Iss 1, Pp 187-191 (2020)
Abstract Introduction Myoclonus-dystonia is an inherited disorder characterized by a combination of myoclonic jerks and dystonia. Mutations in the epsilon-sarcoglycan gene (SGCE) represent the main known genetic cause. In the last few years, deep bra
Externí odkaz:
https://doaj.org/article/10de755ebc3a4246b4eb8790b4fb1755
Autor:
Faiza Chbel, Hicham Charroute, Redouane Boulouiz, Hasna Hamdaoui, Houssein Mossafa, Houda Benrahma, Karim Ouldim
Publikováno v:
Clinical Case Reports, Vol 10, Iss 3, Pp n/a-n/a (2022)
Abstract Myoclonus–dystonia (M‐D) is a pleiotropic neuropsychiatric disorder with autosomal dominant mode of inheritance with variable severity and incomplete penetrance. Pathogenic variants in ξ‐sarcoglycan gene SGCE are the most frequently k
Externí odkaz:
https://doaj.org/article/f486de72d0eb43009a9c5bd19443f981
Publikováno v:
Annals of Movement Disorders, Vol 4, Iss 2, Pp 86-88 (2021)
ADCY5-related dyskinesia is a childhood-onset autosomal dominant disorder that is caused by gain-of-function mutations in the ADCY5 gene. The core clinical features include a varying combination of hyperkinetic movement disorders (chorea, athetosis,
Externí odkaz:
https://doaj.org/article/d2247fc09e944323a7178598b402507b
Akademický článek
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