Zobrazeno 1 - 10
of 49
pro vyhledávání: '"familial hemiplegic migraine type 1"'
Autor:
Rosaria Nardello, Giorgia Plicato, Giuseppe Donato Mangano, Elena Gennaro, Salvatore Mangano, Filippo Brighina, Vincenzo Raieli, Antonina Fontana
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-7 (2020)
Abstract Background To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for at least three aut
Externí odkaz:
https://doaj.org/article/564a8a935e9c4ee880113895c3d95670
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 12 (2020)
The P/Q-type CaV2.1 channel regulates neurotransmitter release at neuromuscular junctions (NMJ) and many central synapses. CACNA1A encodes the pore-containing α1A subunit of CaV2.1 channels. In humans, de novo CACNA1A mutations result in a wide spec
Externí odkaz:
https://doaj.org/article/55a55a20f28e4377b71b09f5342b0d6c
Autor:
Cain, Stuart M., Bohnet, Barry, LeDue, Jeffrey, Yung, Andrew C., Garcia, Esperanza, Tyson, John R., Alles, Sascha R. A., Han, Huili, van den Maagdenberg, Arn M. J. M., Kozlowski, Piotr, MacVicar, Brian A., Snutch, Terrance P.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2017 Feb . 114(9), 2401-2406.
Externí odkaz:
https://www.jstor.org/stable/26479502
Autor:
Marie Bruun, Lena Elisabeth Hjermind, Carsten Thomsen, Else Danielsen, Lise Lykke Thomsen, Lars Hageman Pinborg, Nastaran Khabbazbavani, Joergen Erik Nielsen
Publikováno v:
Case Reports in Neurology, Vol 7, Iss 1, Pp 84-89 (2015)
Familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) are allelic disorders caused by mutations in the CACNA1A gene on chromosome 19p13. It is well described that FHM1 can present with cereb
Externí odkaz:
https://doaj.org/article/ffbb17137202433b8060794971c99855
Autor:
Elena Gennaro, Filippo Brighina, Giorgia Plicato, Salvatore Mangano, Antonina Fontana, Rosaria Nardello, Vincenzo Raieli, Giuseppe Donato Mangano
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-7 (2020)
BMC Neurology
BMC Neurology
Background To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for at least three autosomal do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91df70b6418a681d186442b5d69eafb8
http://link.springer.com/article/10.1186/s12883-020-01704-5
http://link.springer.com/article/10.1186/s12883-020-01704-5
Akademický článek
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Autor:
Manuela Kaml, Matthias Amprosi, Edda Haberlandt, Andreas Eigentler, Wolfgang Nachbauer, Fiona Zeiner, Iris Unterberger, Elisabetta Indelicato, Sylvia Boesch, Elke R. Gizewski
Publikováno v:
Journal of Neurology
Objectives CACNA1A variants underlie three neurological disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). EEG is applied to study their episodic manifestations, but findings
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a85e74dd6d6b118943ecd2a731bc6c
https://pubmed.ncbi.nlm.nih.gov/33544220
https://pubmed.ncbi.nlm.nih.gov/33544220
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Lena E. Hjermind, Nastaran Khabbazbavani, Lise L Thomsen, Marie Bruun, Else R. Danielsen, Carsten Thomsen, Lars H. Pinborg, Joergen Erik Nielsen
Publikováno v:
Case Reports in Neurology, Vol 7, Iss 1, Pp 84-89 (2015)
Case Reports in Neurology
Case Reports in Neurology
Familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) are allelic disorders caused by mutations in the CACNA1A gene on chromosome 19p13. It is well described that FHM1 can present with cereb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dbe7de5bfc15385948d60047da9c509
http://www.karger.com/Article/FullText/381827
http://www.karger.com/Article/FullText/381827
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.