Zobrazeno 1 - 10
of 210
pro vyhledávání: '"action myoclonus"'
Autor:
Burcu Atasu, Ayse Nur Ozdag Acarlı, Basar Bilgic, Betül Baykan, Erol Demir, Yasemin Ozluk, Aydin Turkmen, Ann-Kathrin Hauser, Gamze Guven, Hasmet Hanagasi, Hakan Gurvit, Murat Emre, Thomas Gasser, Ebba Lohmann
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-13 (2022)
Abstract Background Biallelic pathogenic variants in the SCARB2 gene have been associated with action myoclonus-renal failure (AMRF) syndrome. Even though SCARB2 associated phenotype has been reported to include typical neurological characteristics,
Externí odkaz:
https://doaj.org/article/66b1b6d33c6b477c9c6ba3da3b63921c
Autor:
Kavita Srivastava, Bina Mahendrasinh Thakor, Shuvendu Roy, Surekha Rajadhyaksha, Chaitanya Datar
Publikováno v:
Indian Pediatrics Case Reports, Vol 2, Iss 1, Pp 7-11 (2022)
Background: Progressive myoclonus epilepsy (PME) is a group of heterogeneous genetic disorders characterized by action myoclonus, epileptic seizures, and progressive neurologic deterioration with onset of symptoms in adolescence and adulthood. Unverr
Externí odkaz:
https://doaj.org/article/52a32d15d02f4e9ea0f3b5eb226db08e
Akademický článek
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Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Action myoclonus-renal failure syndrome (AMRF) is a rare, recessively inherited form of progressive myoclonus epilepsy (PME) caused by mutations in the SCARB2 gene and associated with end-stage renal failure. In addition to severe progressive myoclon
Externí odkaz:
https://doaj.org/article/9c6d0eb999d145e4a6bf84b7735a26f4
Akademický článek
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Autor:
Aleksandra Szczepańska, Edyta Dziadkowiak, Joanna Bladowska, Lech Kipiński, Sławomir Budrewicz, Magdalena Koszewicz
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Objectives: Chronic post-hypoxic myoclonus, known as Lance-Adams syndrome (LAS), is a rare complication of successful cardiopulmonary resuscitation. It is characterized by intention myoclonus, cerebellar ataxia, and preserved intellect. The basis of
Externí odkaz:
https://doaj.org/article/840f08c119f94ca8a977c092581f4d9e
Autor:
Adam Shugan
Publikováno v:
The Neurodiagnostic Journal. 61:144-149
Lance-Adams syndrome (LAS) was first described in 1963 by Lance and Adams, who cited four cases of posthypoxic action myoclonus. Since then, less than 150 cases have been reported world-wide. LAS differs from acute posthypoxic myoclonus, which usuall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60e10d7fc4d186807a036f17714b52e0
https://doi.org/10.1080/21646821.2021.1940748
https://doi.org/10.1080/21646821.2021.1940748
Autor:
D. Rossi Sebastiano, Ferruccio Panzica, Roberta Solazzi, Dunja Duran, Giulia Varotto, Elisa Visani, Tiziana Granata, Laura Canafoglia, S. Franceschetti
Publikováno v:
Clinical Neurophysiology. 132:1057-1063
Objective To investigate the mechanisms by which Perampanel (PER) reduces the severity of action myoclonus, we studied on MEG signals the changes occurring in cortico-muscular coherence (CMC) and cortico-cortical connectivity in patients with progres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f41423271477d4cecf16ae4ce7c12d60
https://doi.org/10.1016/j.clinph.2021.01.018
https://doi.org/10.1016/j.clinph.2021.01.018
Autor:
Burcu Atasu, Ayse Nur Ozdag Acarlı, Basar Bilgic, Betül Baykan, Erol Demir, Yasemin Ozluk, Aydin Turkmen, Ann-Kathrin Hauser, Gamze Guven, Hasmet Hanagasi, Hakan Gurvit, Murat Emre, Thomas Gasser, Ebba Lohmann
Publikováno v:
BMC neurology 22(1), 122 (2022). doi:10.1186/s12883-022-02628-y
BMC Neurology
BMC Neurology
Background: biallelic pathogenic variants in the SCARB2 gene have been associated with action myoclonus-renal failure (AMRF) syndrome. Even though SCARB2 associated phenotype has been reported to include typical neurological characteristics, dependin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f17c894e905be0a288dbd7a101ea52e2
https://pubmed.ncbi.nlm.nih.gov/35346091
https://pubmed.ncbi.nlm.nih.gov/35346091
Akademický článek
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