Zobrazeno 1 - 10
of 233
pro vyhledávání: '"CACNA1A gene"'
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
Autor:
Linxia Zhang, Yongxin Wen, Qingping Zhang, Yan Chen, Jiaping Wang, Kaili Shi, Lijun Du, Xinhua Bao
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: The CACNA1A gene encodes the voltage-dependent P/Q-type calcium channel subunit alpha-1A, which is widely expressed throughout the CNS. The biological roles of the P/Q channel are diverse and the phenotypic spectrum caused by CACNA1A muta
Externí odkaz:
https://doaj.org/article/491970207e254006973e823bdccac430
CAG Repeat Instability, Cryptic Sequence Variation and Pathogeneticity: Evidence from Different Loci
Publikováno v:
Philosophical Transactions: Biological Sciences, 1999 Jun . 354(1386), 1089-1094.
Externí odkaz:
https://www.jstor.org/stable/56990
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Here, we describe the first case of familial hemiplegic migraine type 1 (FHM1) resulting from a T666M mutation in the CACNA1A gene of a Chinese individual. A 54-year-old female patient demonstrated extensive clinical manifestations, including transie
Externí odkaz:
https://doaj.org/article/dcd03bb0f95b463c877cb78a4afe34b4
Autor:
Antonio F. Martínez-Monseny, Albert Edo, Dídac Casas-Alba, Mercè Izquierdo-Serra, Mercè Bolasell, David Conejo, Loreto Martorell, Jordi Muchart, Laura Carrera, Carlos I. Ortez, Andrés Nascimento, Baldo Oliva, José M. Fernández-Fernández, Mercedes Serrano
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 10, p 5180 (2021)
The CACNA1A gene encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 Ca2+ channel, essential in neurotransmission, especially in Purkinje cells. Mutations in CACNA1A result in great clinical heterogeneity with progressive symptoms, paro
Externí odkaz:
https://doaj.org/article/557b2a1eecf64bdeb4c9274c77b0e7cf
Autor:
Rokhsareh Meamar, Maryam Ostadsharif, Mohammad Saadatnia, Abbas Ghorbani, Nayereh Nouri, Leila Dehghani, Mansoor Salehi
Publikováno v:
Journal of Research in Medical Sciences, Vol 18, Iss 13, Pp 6-10 (2013)
Background: There are contrary results about the role of CACNA1A gene in the causation of common migraine in different populations. However, migraine may be genetically heterogeneous and more studies in different families and populations are required
Externí odkaz:
https://doaj.org/article/d5687590e9ef41348608f9b431ae2b70
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
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 66, Iss 3b, Pp 691-694 (2008)
Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by s
Externí odkaz:
https://doaj.org/article/9cd399cf065d4a01b34b0c895317cadf
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics, Vol 9 (2021)
Objective: Investigate the clinical manifestations and genotypes of paroxysmal tonic upgaze (PTU) in Chinese children.Patients and Methods: We report the clinical manifestations and genetic test results of four pediatric PTU patients in China. Recent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e02870b4c7b7c09eb63a4df343283a13
https://doi.org/10.3389/fped.2021.722105
https://doi.org/10.3389/fped.2021.722105
Autor:
Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM, Serrano M
Publikováno v:
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The CACNA1A gene encodes the pore-forming a(1A) subunit of the voltage-gated Ca(V)2.1 Ca(2+) channel, essential in neurotransmission, especially in Purkinje cells. Mutations in CACNA1A result in great clinical heterogeneity with progressive symptoms,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8c5ddb056bae8efd0c5e2056ab95d27b
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19670
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19670
