يعرض 1 - 3 نتائج من 3 نتيجة بحث عن '"CaV2.1 voltage-gated calcium channel"', وقت الاستعلام: 1.51s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

    المؤلفون: Mercè Izquierdo-Serra, Antonio F. Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G. Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M. Fernández-Fernández, Mercedes Serrano

    المصدر: International Journal of Molecular Sciences, Vol 19, Iss 2, p 619 (2018)

    مصطلحات موضوعية: ataxia, cerebellum, congenital disorders of glycosylation, magentic resonance Imaging (MRI), stroke-like, CaV2.1 voltage-gated calcium channel, Biology (General), QH301-705.5, Chemistry, QD1-999

    وصف الملف: electronic resource

    Relation: http://www.mdpi.com/1422-0067/19/2/619; https://doaj.org/toc/1422-0067

    URL الوصول: https://doaj.org/article/fe935ff1b154463da302ead9af2340dd

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  2. 2
    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

    المؤلفون: Izquierdo-Serra M, Martinez-Monseny T, Lopez L, Carrillo-Garcia J, Edo A, Ortigoza-Escobar JD, Garcia O, Cancho-Candela R, Carrasco-Marina ML, Gutierrez-Solana LG, Cuadras-Palleja D, Muchart-Lopez J, Montero-Sanchez R, Artuch-Iriberri R, Perez-Cerda C, Perez B, Pérez-Dueñas B, Macaya A, Fernandez-Fernandez 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: congenital, hereditary, and neonatal diseases and abnormalities, CaV2.1 voltage-gated calcium channel, magentic resonance Imaging (MRI), cerebellum, stroke-like, ataxia, Ca(V)2, 1 voltage-gated calcium channel, congenital disorders of glycosylation

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::586bff82d2d42b6c141d4947eb8a4a42
    http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13739

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  3. 3
    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG) : Evidence for Hypoglycosylation-Driven Channelopathy

    المؤلفون: Izquierdo-Serra, Mercè, Martínez-Monseny, Antonio F., López, Laura, Carrillo-García, Julia, Edo, Albert, Ortigoza-Escobar, Juan Darío, García, Óscar, Cancho-Candela, Ramón, Carrasco-Marina, M. Llanos, González Gutiérrez-Solana, Luis, Cuadras, Daniel, Muchart, Jordi, Montero, Raquel, Artuch, R., Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Macaya Ruiz, Alfons, Fernández-Fernández, José M., Serrano, Mercedes, Universitat Autònoma de Barcelona

    المصدر: International Journal of Molecular Sciences, Vol 19, Iss 2, p 619 (2018)
    International Journal of Molecular Sciences
    Recercat. Dipósit de la Recerca de Catalunya
    instname
    Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
    Consejería de Sanidad de la Comunidad de Madrid
    International Journal of Molecular Sciences; Volume 19; Issue 2; Pages: 619
    Dipòsit Digital de Documents de la UAB
    Universitat Autònoma de Barcelona

    مصطلحات موضوعية: 0301 basic medicine, Male, Cerebellum, ataxia, cerebellum, congenital disorders of glycosylation, magentic resonance Imaging (MRI), stroke-like, CaV2.1 voltage-gated calcium channel, Glycosylation, medicine.disease_cause, lcsh:Chemistry, 0302 clinical medicine, Congenital disorders of glycosylation, Child, Stroke, lcsh:QH301-705.5, Spectroscopy, Familial hemiplegic migraine, Mutation, Tunicamycin, Electroencephalography, General Medicine, Phenotype, Magnetic Resonance Imaging, Computer Science Applications, medicine.anatomical_structure, Phosphotransferases (Phosphomutases), Child, Preschool, Female, medicine.symptom, Ion Channel Gating, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Adolescent, Stroke-like, Catalysis, Article, Inorganic Chemistry, 03 medical and health sciences, Ca2.1 voltage-gated calcium channel, Channelopathy, Cerebellar Diseases, medicine, Humans, Amino Acid Sequence, Physical and Theoretical Chemistry, Molecular Biology, business.industry, Organic Chemistry, Magentic resonance Imaging (MRI), medicine.disease, 030104 developmental biology, HEK293 Cells, lcsh:Biology (General), lcsh:QD1-999, Immunology, Channelopathies, Calcium Channels, business, 030217 neurology & neurosurgery, Phosphomannomutase

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f669886ffd55882153549ffc08c1695c
    https://ddd.uab.cat/record/253453

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