المؤلفون: Pérez‑Santamarina, Estela^{Aff1, Aff2, Aff10}, García‑Ruiz, Pedro, Martínez‑Rubio, Dolores^{Aff1, Aff2, Aff11, Aff12}, Ezquerra, Mario, Pla‑Navarro, Irene, Puente, Jorge, Martí, María José, Palau, Francesc^{Aff1, Aff7, Aff8, Aff9}, Hoenicka, Janet^{Aff1, Aff7, IDs41598022173010_cor9}

المصدر: Scientific Reports. 12(1)

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المؤلفون: Pérez-Santamarina, Estela^{Aff1, Aff2, Aff10}, García-Ruiz, Pedro, Martínez-Rubio, Dolores^{Aff1, Aff2, Aff11, Aff12}, Ezquerra, Mario, Pla-Navarro, Irene, Puente, Jorge, Martí, María José, Palau, Francesc^{Aff1, Aff7, Aff8, Aff9}, Hoenicka, Janet^{Aff1, Aff7, IDs41598021893006_cor9}

المصدر: Scientific Reports. 11(1)

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المؤلفون: Martínez Rubio, Dolores, Hinarejos, Isabel, Sancho, Paula, Gorría Redondo, Nerea, Bernadó Fonz, Raquel, Tello, Cristina, Mir Rivera, Pablo, Espinós, Carmen

المساهمون: Universidad de Sevilla. Departamento de Medicina, Instituto de Salud Carlos III, European Commission (EC). Fondo Europeo de Desarrollo Regional (FEDER), Fundació La Marató TV3, Generalitat Valenciana, Ministerio de Educación, Cultura y Deporte (MECD). España, Fundación Española Per Amor a l’Art

مصطلحات موضوعية: cerebellar atrophy, gene panel, ataxia, movement disorders, neurodegeneration with brain iron accumulation (NBIA), exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3272::e001b5b6d2a20b69a3152e04eff71466

المؤلفون: Calpena, Eduardo^Aff1, Casado, Mercedes^Aff2, Martínez-Rubio, Dolores^Aff1, Nascimento, Andrés^Aff2, Colomer, Jaume^Aff2, Gargallo, Eva^Aff2, García-Cazorla, Angels^Aff2, Palau, Francesc^Aff1, Artuch, Rafael^Aff2, Espinós, Carmen^{Aff3, Aff4}

المساهمون: Brown, Garry, editor^AffID1, Morava, Eva, editor^AffID2, Peters, Verena, editor^AffID3, Gibson, K Michael, editor^AffID4, Zschocke, Johannes, editor^AffID5

المصدر: JIMD Reports - Case and Research Reports, 2012/4. 7:123-128

المؤلفون: Espinós, Carmen^Aff2, Calpena, Eduardo^{Aff2, Aff3}, Martínez-Rubio, Dolores^{Aff2, Aff3}, Lupo, Vincenzo^{Aff2, Aff3}

المساهمون: Ahmad, Shamim I., editor^Aff1

المصدر: Neurodegenerative Diseases. 724:61-75

Degree: BSc, MSc, PhD

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المؤلفون: Hoenicka, Janet, García-Ruiz, Pedro J., Ponce, Guillermo, Herranz, Antonio, Martínez-Rubio, Dolores, Pérez-Santamarina, Estela, Palau, Francesc

المصدر: Neurotoxicity Research: Neurodegeneration, Neuroregeneration, Neurotrophic Action, and Neuroprotection. April 2015 27(3):205-208

المؤلفون: Sancho, Paula, Andrés-Bordería, Amparo, Gorría-Redondo, Nerea, Llano, Katia, Martínez-Rubio, Dolores, Yoldi-Petri, María Eugenia, Blumkin, Luba, Rodríguez de la Fuente, Pablo, Gil-Ortiz, Fernando, Fernández-Murga, Leonor, Sánchez-Monteagudo, Ana, Lupo, Vincenzo, Pérez-Dueñas, Belén, Espinós, Carmen, Aguilera-Albesa, Sergio, Universitat Autònoma de Barcelona

المساهمون: Institut Català de la Salut, [Sancho P, Martínez-Rubio D] Unit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain. [Andrés-Bordería A] Unit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain. Department of Physiology, Faculty of Medicine and Dentistry, University of Valencia, 46010 Valencia, Spain. [Gorría-Redondo N, Yoldi-Petri ME] Pediatric Neurology Unit, Department of Pediatrics, Complejo Hospitalario de Navarra, 31008 Pamplona, Spain. [Pérez-Dueñas B] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: International Journal of Molecular Sciences
Volume 22
Issue 5
International Journal of Molecular Sciences, Vol 22, Iss 2505, p 2505 (2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pathology, Protein Conformation, Sequence Homology, SPTBN2 gene, b-III spectrin, 030105 genetics & heredity, Fluid-attenuated inversion recovery, Cohort Studies, lcsh:Chemistry, Non-progressive congenital ataxia, 0302 clinical medicine, β-III spectrin, Spectrin, enfermedades del sistema nervioso::enfermedades neurodegenerativas [ENFERMEDADES], Age of Onset, Child, lcsh:QH301-705.5, Spectroscopy, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Neurodegeneration, neurodegeneration, Neurodegenerative Diseases, non-progressive congenital ataxia, Syndrome, General Medicine, Phenotype, Hypotonia, Computer Science Applications, Nervous System Diseases::Neurodegenerative Diseases [DISEASES], Spinocerebellar ataxia, medicine.symptom, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Cerebellar Ataxia, Neuroimaging, Biology, Catalysis, Article, Inorganic Chemistry, 03 medical and health sciences, Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Cerebellar Diseases::Cerebellar Ataxia [DISEASES], Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, Amino Acid Sequence, Physical and Theoretical Chemistry, Molecular Biology, Genetic Association Studies, Organic Chemistry, medicine.disease, Hyperintensity, Sistema nerviós - Degeneració - Aspectes genètics, lcsh:Biology (General), lcsh:QD1-999, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebelosas::ataxia cerebelosa [ENFERMEDADES], Mutation, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33d864457d3f818299c2330160bb9c62
http://europepmc.org/articles/PMC7958857