المؤلفون: Izquierdo-Serra, Mercè, Fernández-Fernández, José M.^Aff1, Serrano, Mercedes^{Aff2, Aff3}

المصدر: Pflügers Archiv - European Journal of Physiology. 472(7):791-809

المؤلفون: 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

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 10, p 5180 (2021)

مصطلحات موضوعية: ataxia, cerebellar atrophy, dysmorphic traits, early-onset cerebellar ataxia, CACNA1A gene, CaV2.1 (P/Q-type) voltage-dependent calcium channel, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/10/5180; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/557b2a1eecf64bdeb4c9274c77b0e7cf

المؤلفون: 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

المصدر: 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

مصطلحات موضوعية: CaV2.1 (P/Q-type) voltage-dependent calcium channel, cerebellar atrophy, CACNA1A gene, ataxia, dysmorphic traits, early-onset cerebellar ataxia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8c5ddb056bae8efd0c5e2056ab95d27b
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19670

المؤلفون: L. Carrera, Jordi Muchart, José M. Fernández-Fernández, Mercè Izquierdo-Serra, Loreto Martorell, Mercedes Serrano, Dídac Casas-Alba, Carlos Ortez, Mercè Bolasell, Andrés Nascimento, David Conejo, Antonio Martinez-Monseny, Albert Edo, Baldo Oliva

المصدر: International Journal of Molecular Sciences
Dipòsit Digital de la UB
Universidad de Barcelona
Volume 22
Issue 10
International Journal of Molecular Sciences, Vol 22, Iss 5180, p 5180 (2021)

مصطلحات موضوعية: 0301 basic medicine, CaV2.1 (P/Q-type) voltage-dependent calcium channel, Ataxia, Prominent forehead, Nasal bridge, QH301-705.5, Catalysis, Article, Inorganic Chemistry, Malalties del sistema nerviós, Neurologia, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Neuroimaging, medicine, Biology (General), Physical and Theoretical Chemistry, Hypertelorism, QD1-999, Molecular Biology, Spectroscopy, business.industry, Organic Chemistry, CACNA1A gene, Nervous system Diseases, General Medicine, medicine.disease, Phenotype, Computer Science Applications, Chemistry, 030104 developmental biology, Neurology, Cerebellar atrophy, Dysmorphic traits, medicine.symptom, business, Neuroscience, 030217 neurology & neurosurgery, Early-onset cerebellar ataxia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::720a7114d30688d11c0b07cf7d18ba8b
http://hdl.handle.net/10230/47763

المؤلفون: José M. Fernández-Fernández, Mercè Izquierdo-Serra, Mercedes Serrano

المصدر: Pflugers Archiv : European journal of physiology. 472(7)

مصطلحات موضوعية: 0301 basic medicine, Cerebellum, Physiology, Clinical Biochemistry, Context (language use), medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), medicine, Animals, Humans, Cerebellar disorder, Amino Acid Sequence, Pathological, Familial hemiplegic migraine, Episodic ataxia, Early-onset cerebellar signs, Mutation, business.industry, CACNA1A gene, medicine.disease, CaV2.1 (P/Q-type) voltage-dependent calcium channel, 030104 developmental biology, medicine.anatomical_structure, Cerebellar atrophy, Congenital ataxia, Ataxia, Calcium Channels, Permanent ataxia, business, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8a99dab4d521fc10ddd8d7056415167
https://pubmed.ncbi.nlm.nih.gov/32458086

المؤلفون: Martínez-Monseny AF; Department of Genetic and Molecular Medicine, Institut de Recerca, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Edo A; Laboratory of Molecular Physiology, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain., Casas-Alba D; Department of Genetic and Molecular Medicine, Institut de Recerca, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Izquierdo-Serra M; Laboratory of Molecular Physiology, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain., Bolasell M; Department of Genetic and Molecular Medicine, Institut de Recerca, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Conejo D; Pediatric Department, Complejo Asistencial de Burgos, 09006 Burgos, Spain., Martorell L; Department of Genetic and Molecular Medicine, Institut de Recerca, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain., Muchart J; Pediatric Radiology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Carrera L; Neuropediatric Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Ortez CI; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain.; Neuropediatric Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Nascimento A; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain.; Neuropediatric Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Oliva B; Structural Bioinformatics Lab, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain., Fernández-Fernández JM; Laboratory of Molecular Physiology, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain., Serrano M; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, 08002 Barcelona, Spain.; Neuropediatric Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2021 May 13; Vol. 22 (10). Date of Electronic Publication: 2021 May 13.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Ataxia/*pathology , Calcium Channels/*genetics, Adult ; Amino Acid Sequence ; Ataxia/congenital ; Ataxia/etiology ; Ataxia/metabolism ; Calcium Channels/chemistry ; Calcium Channels/metabolism ; Child ; Female ; Humans ; Male ; Neuroimaging ; Phenotype ; Protein Conformation ; Sequence Homology ; Structure-Activity Relationship ; Young Adult