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المؤلفون: Francalanci Paola, Adele D'Amico, Enrico Bertini, Kate Bushby, Julia Rankin, Caoimhe McKenna, Hanns Lochmüller, Lev G. Goldfarb, Zagaa Odgerel, Volker Straub, Hee Suk Lee, Anna Sarkozy
مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Proline, Genetic counseling, DNA Mutational Analysis, Cardiomyopathy, Biology, medicine.disease_cause, Asymptomatic, Article, Young Adult, Muscular Diseases, Sural Nerve, Leucine, medicine, Inheritance Patterns, Humans, Child, Genetics (clinical), Adaptor Proteins, Signal Transducing, Genetics, Family Health, Mutation, medicine.disease, Phenotype, Actin Cytoskeleton, Neurology, Pediatrics, Perinatology and Child Health, Microscopy, Electron, Scanning, Female, Neurology (clinical), medicine.symptom, Myofibril, Apoptosis Regulatory Proteins, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b86fbc452764fc33d12f74c96b75f69fTest
https://europepmc.org/articles/PMC2900409Test/ -
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المؤلفون: Menachem Sadeh, Baruch El-Ad, Jean-Pierre Bouchard, Vivian E. Drory, Galina B. Groozman, Sergiu C. Blumen, Uri Soimu, Lev G. Goldfarb
مصطلحات موضوعية: Adult, Glycine-tRNA Ligase, Male, Pathology, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Neural Conduction, Biology, Gene mutation, Article, Glycine—tRNA ligase, Cohort Studies, Muscular Atrophy, Spinal, Exon, Young Adult, Atrophy, medicine, Humans, Amyotrophic lateral sclerosis, Gene, Genetics, Electromyography, General Medicine, medicine.disease, Hand, Penetrance, Magnetic Resonance Imaging, Neurology, Spinal Cord, Cervical Vertebrae, Cold sensitivity, Neurology (clinical), medicine.symptom, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6415b5540cac3aef141cc40439875932Test
https://europepmc.org/articles/PMC2864347Test/ -
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المؤلفون: Ana Cabello, Iris de la Puerta, Montse Olivé, Pilar Larrodé, Aleksey Shatunov, Lev G. Goldfarb, Gerard Piñol-Ripoll, Feliciano J. Ramos, Juana Pelegrín
المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelonaمصطلحات موضوعية: medicine.medical_specialty, Weakness, Myocardiopathies, DNA Mutational Analysis, Cardiomyopathy, Miocardiopaties, Neurological examination, Biology, Article, Desmin, Electrocardiography, Atrophy, Internal medicine, medicine, Humans, Age of Onset, Genetics (clinical), Sequence Deletion, Muscle biopsy, medicine.diagnostic_test, Muscles, Homozygote, Restrictive cardiomyopathy, Infant, Heart, medicine.disease, Defibrillators, Implantable, Infart de miocardi, Myocardial infarction, Neurology, Pediatrics, Perinatology and Child Health, Cardiology, Female, Neurology (clinical), Age of onset, medicine.symptom, Cardiomyopathies
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e565f823fc7136b81ae2ab6300130ac4Test
http://hdl.handle.net/2445/124329Test -
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المؤلفون: Nyamkhishig Sambuughin, Enrico Bertini, I. Menditto, Stefania Petrini, Adele D'Amico, Margherita Verardo, Lev G. Goldfarb, Sara Benedetti, M. Ferrari, Renata Boldrini
المساهمون: Damico, A, S., Benedetti, S., Petrini, N., Sambuughin, R., Boldrini, I., Menditto, Ferrari, Maurizio, M., Verardo, L., Goldfarb, E., Bertin
مصطلحات موضوعية: medicine.medical_specialty, DNA Mutational Analysis, Mutation, Missense, Adipose tissue, Biology, medicine.disease_cause, Desmin, Electron Transport Complex IV, LMNA, Exon, Muscular Diseases, Myofibrils, Internal medicine, medicine, Humans, Missense mutation, Child, Myopathy, Genetics (clinical), Genetics, Mutation, integumentary system, Skeletal muscle, Exons, Lamin Type A, Immunohistochemistry, medicine.anatomical_structure, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Lamin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ba4766a7f2753d57c890305772da301Test