Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Action myoclonus-renal failure syndrome"'
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:
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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Publikováno v:
Seizure. 88
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa79c54451c290950076115940d57672
https://pubmed.ncbi.nlm.nih.gov/33836450
https://pubmed.ncbi.nlm.nih.gov/33836450
Autor:
M. Clara Sá-Miranda, Daniel Caiola, João Chaves, Andrea Balreira, José Lopes Lima, Idalina Beirão, Paulo Gaspar
Publikováno v:
Seizure. 20:738-740
Action myoclonus-renal failure syndrome (AMRF) is considered a rare form of progressive myoclonus epilepsy (PME) associated with renal failure. A mutation on the gene encoding the lysosomal integral membrane protein type 2-LIMP-2 (SCARB2), the recept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::339a2ece9e4f5c0bb497f66c313fd079
https://doi.org/10.1016/j.seizure.2011.06.018
https://doi.org/10.1016/j.seizure.2011.06.018
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Publikováno v:
Lysosomal Storage Disorders: A Practical Guide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94ac93e6e4ac85f1fb0bf64454525051
https://doi.org/10.1002/9781118514672.ch17
https://doi.org/10.1002/9781118514672.ch17
Lysosomal hydrolases have long been known to be responsible for the degradation of different substrates in the cell. These acid hydrolases are synthesized in the rough endoplasmic reticulum and transported through the Golgi apparatus to the trans-Gol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebbbb589a8169b1a708b683cdafe654b
https://hdl.handle.net/10400.18/1523
https://hdl.handle.net/10400.18/1523
Autor:
Peter Brown
Publikováno v:
Brain : a journal of neurology. 127(Pt 10)
The causes of myoclonus are protean and often obscure; none more obscure than the action myoclonus–renal failure (AMRF) syndrome reported in four French Canadian patients from the province of Quebec by Andermann et al . in 1986. In their current pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88027e426ee0c6db1bbed2d3ffd4c72d
https://pubmed.ncbi.nlm.nih.gov/15364701
https://pubmed.ncbi.nlm.nih.gov/15364701
Autor:
Samuel F. Berkovic, Leanne M. Dibbens, Luis A. Pellene, Federico Micheli, Marta A. Bayly, Claudia Perandones
Publikováno v:
Movement Disorders. 27:1200-1201
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::398da48d8ab25ae513413a8818853459
https://doi.org/10.1002/mds.25083
https://doi.org/10.1002/mds.25083