المؤلفون: María I. Canut, Olaya Villa, Bachar Kudsieh, Heidi Mattlin, Isabel Banchs, Juan R. González, Lluís Armengol, Ricardo P. Casaroli-Marano

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/003dc5dc60104e7fa3fe16b886eea31aTest

المؤلفون: María I. Canut, Olaya Villa, Bachar Kudsieh, Heidi Mattlin, Isabel Banchs, Juan R. González, Lluís Armengol, Ricardo P. Casaroli‑Marano

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-1 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/b8c420de0a704146a03977528df10e64Test

المؤلفون: Isabel Banchs, Carlos Casasnovas, Antonia Albertí, Laura De Jorge, Mónica Povedano, Jordi Montero, Juan Antonio Martínez-Matos, Victor Volpini

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://downloads.hindawi.com/journals/bmri/2009/985415.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1089.9520Test; http://downloads.hindawi.com/journals/bmri/2009/985415.pdfTest

الإتاحة: http://downloads.hindawi.com/journals/bmri/2009/985415.pdfTest

المؤلفون: Juan R. González, Heidi Mattlin, Olaya Villa, Maria Isabel Canut, Bachar Kudsieh, Ricardo P. Casaroli-Marano, Isabel Banchs, Lluís Armengol

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-1 (2021)
Scientific Reports

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Open angle glaucoma, DNA Copy Number Variations, Genotype, Science, Adrenergic beta-Antagonists, MEDLINE, Ocular hypertension, Text mining, Ophthalmology, medicine, Humans, Prospective Studies, Alleles, Intraocular Pressure, Aged, Multidisciplinary, Cross-Over Studies, business.industry, Middle Aged, medicine.disease, Publisher Correction, Timolol, Latanoprost, Medicine, Female, Ocular Hypertension, business, Co-Repressor Proteins, Biomarkers, Glaucoma, Open-Angle, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95aa9b57ebedf7c4ffce3a36a03386ebTest
https://doaj.org/article/b8c420de0a704146a03977528df10e64Test

المؤلفون: Jordi Montero, Maria Antonia Alberti, Mònica Povedano, Isabel Banchs, Laura de Jorge, Carlos Casasnovas, Victor Volpini, Yolanda Martínez-Campo

المصدر: Muscle & Nerve. 45:135-138

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Physiology, Neural Conduction, Biology, Polyneuropathies, Cellular and Molecular Neuroscience, Exon, Muscle nerve, Physiology (medical), medicine, Humans, Paralysis, Multiplex ligation-dependent probe amplification, Gene, Sequence Deletion, Genetics, Middle Aged, Phenotype, medicine.anatomical_structure, Etiology, Microsatellite, Neurology (clinical), Myelin Proteins, Chromosomes, Human, Pair 17, Sensory nerve

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76185942e332db1eb8add247bcc062ddTest
https://doi.org/10.1002/mus.22201Test

المؤلفون: Isabel Banchs, Juan Antonio Martínez-Matos, Victor Volpini, Jordi Montero, Carlos Casasnovas

المصدر: Muscle & Nerve. 42:184-188

مصطلحات موضوعية: Mutation, Physiology, Myelin protein zero, Anatomy, Biology, medicine.disease, medicine.disease_cause, Molecular biology, Phenotype, Nerve conduction velocity, Muscle hypertrophy, Cellular and Molecular Neuroscience, Myelin, Degenerative disease, medicine.anatomical_structure, Physiology (medical), medicine, Neurology (clinical), Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c46feab8885795d5d7397e9e943fb8eeTest
https://doi.org/10.1002/mus.21643Test

المؤلفون: Victor Volpini, Isabel Banchs, Naïg Gueguen, Arnaud Chevrollier, Dominique Bonneau, Carlos Casasnovas, Juan Antonio Martínez-Matos, Julien Cassereau

المساهمون: Biologie Neurovasculaire Intégrée (BNVI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Journal of medical genetics
Journal of medical genetics, 2010, 47 (4), pp.249-56. ⟨10.1136/jmg.2009.072488⟩

مصطلحات موضوعية: Charcot-Marie-Tooth Disease/genetics/metabolism, Adenosine Triphosphate/metabolism, [SDV]Life Sciences [q-bio], MFN2, medicine.disease_cause, GTP Phosphohydrolases, Exon, Adenosine Triphosphate, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Cells, Cultured, Genetics (clinical), Skin, Fibroblasts/metabolism, Genetics, 0303 health sciences, Mutation, education.field_of_study, Cultured, medicine.diagnostic_test, Statistics, Chromosome Mapping, Phenotype, Mitochondria, 3. Good health, Mitochondrial Proteins/genetics, Neuromuscular disease, Cells, Citric Acid Cycle, Population, Biology, Statistics, Nonparametric, Mitochondrial Proteins, 03 medical and health sciences, Atrophy, Mitochondria/metabolism, medicine, Humans, Nonparametric, Membrane Proteins/genetics, education, 030304 developmental biology, Membrane Proteins, Fibroblasts, medicine.disease, Electrophysiological Phenomena, Spain, Skin biopsy, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95da2df2bfed76147cc1d964f04f0e5fTest
https://doi.org/10.1136/jmg.2009.072488Test

المؤلفون: Roser Corominas, Isabel Banchs, José M. Fernández-Fernández, Pilar Latorre, Victor Volpini, Selma A. Serra, Bru Cormand, Miguel A. Valverde, Noèlia Fernàndez-Castillo, Ester Cuenca-León, Alfons Macaya

المساهمون: Ministerio de Educación y Ciencia (España), Ministerio de Ciencia e Innovación (España), Vall d'Hebron Research Institute, Fundació La Marató de TV3, Institución Catalana de Investigación y Estudios Avanzados

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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مصطلحات موضوعية: Male, medicine.medical_specialty, Patch-Clamp Techniques, Ataxia, DNA Mutational Analysis, Molecular Sequence Data, Mutant, Mutation, Missense, Late onset, Cell Line, Membrane Potentials, Internal medicine, medicine, Humans, Missense mutation, Amino Acid Sequence, Age of Onset, Conserved Sequence, Dystonia, Chemistry, HEK 293 cells, Middle Aged, medicine.disease, Kinetics, Endocrinology, Neurology, Mutation (genetic algorithm), Mutation testing, Calcium, Calcium Channels, Neurology (clinical), medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac32d6faa977823d0a53436af4055c4Test
https://doi.org/10.1016/j.jns.2009.01.005Test

المؤلفون: Isabel Banchs, Victor Volpini, J.A. Martinez-Matos, Carlos Casasnovas, Jordi Montero

المصدر: Neuromuscular Disorders. 18:974-978

مصطلحات موضوعية: Adult, Male, DNA Mutational Analysis, Molecular Sequence Data, Population, MFN2, Late onset, Biology, medicine.disease_cause, Polymerase Chain Reaction, GTP Phosphohydrolases, Mitochondrial Proteins, Young Adult, Atrophy, Charcot-Marie-Tooth Disease, medicine, Humans, Amino Acid Sequence, education, Gene, Genetics (clinical), Genetics, education.field_of_study, Mutation, Base Sequence, Sequence Homology, Amino Acid, Membrane Proteins, Middle Aged, medicine.disease, Pedigree, Molecular analysis, Electrophysiology, Optic Atrophy, Neurology, Spain, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Novel mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89acddf2fd81e30a28b5501e3ccb01a2Test
https://doi.org/10.1016/j.nmd.2008.09.006Test

المؤلفون: David Genís, Hector San Nicolás, Isabel Banchs, Victor Volpini, Jordi Corral, Judith Armstrong

المصدر: Annals of Neurology. 57:549-553

مصطلحات موضوعية: Genetics, Neurology, law, RNA, Neurology (clinical), Allele, Biology, Trinucleotide repeat expansion, Gene, Penetrance, Polymerase chain reaction, law.invention

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::92ba627dd0346013ee77a6ebdb89f329Test
https://doi.org/10.1002/ana.20421Test