المؤلفون: Thomas Meitinger, Nicole I. Wolf, Tim M. Strom, Raphael Schiffmann, Alison Colley, Enrico Baruffini, Eline M. Hamilton, Cristina Dallabona, Adeline Vanderver, Ileana Ferrero, Daniele Ghezzi, Helena Rocha, Truus E.M. Abbink, Marjo S. van der Knaap, Katrin Õunap, Tobias B. Haack, Massimo Zeviani, Costanza Lamperti, Laura Melchionda, Gajja S. Salomons, Caterina Mariotti, Ettore Salsano, Mario Savoiardo, Kim Chapman, Sietske H. Kevelam, Holger Prokisch, Lee-Jun C. Wong, Daria Diodato

المساهمون: Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Laboratory Medicine, Pediatric surgery, NCA - Brain mechanisms in health and disease, Other departments

المصدر: Neurology 82, 2063-2071 (2014)
Neurology, 82(23), 2063-2071. American Academy of Neurology
Neurology, 82(23), 2063-2071. Lippincott Williams and Wilkins
Dallabona, C, Diodato, D, Kevelam, S H, Haack, T B, Wong, L J, Salomons, G S, Baruffini, E, Melchionda, L, Mariotti, C, Strom, T M, Meitinger, T, Prokisch, H, Chapman, K, Colley, A, Rocha, H, Ounap, K, Schiffmann, R, Salsano, E, Savoiardo, M, Hamilton, E M C, Abbink, G E M, Wolf, N I, Ferrero, I, Lamperti, C, Zeviani, M, Vanderver, A, Ghezzi, D & van der Knaap, M S 2014, ' Novel (ovario) leukodystrophy related to AARS2 mutations ', Neurology, vol. 82, no. 23, pp. 2063-2071 . https://doi.org/10.1212/WNL.0000000000000497Test

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Ataxia, Adolescent, Cardiomyopathy, Biology, Primary Ovarian Insufficiency, Compound heterozygosity, medicine.disease_cause, Article, Leukoencephalopathy, Young Adult, Atrophy, SDG 3 - Good Health and Well-being, Leukoencephalopathies, medicine, Humans, Cognitive decline, Alanine-tRNA Ligase, Cognition Disorders, Exons, Female, Magnetic Resonance Imaging, Muscle Spasticity, Mutation, Phenotype, Leukodystrophy, medicine.disease, Neurology (clinical), medicine.symptom

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55193fd95af1d17d800cb702813c2884Test
https://europepmc.org/articles/PMC4118500Test/

المؤلفون: Daniele Ghezzi, Patrick F. Chinnery, Gavin Hudson, Massimo Zeviani, Gianfrancesco Ferrari, Watcharee Tiangyou, David J. Burn

مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, Pathology, Genotype, Population, DNA Mutational Analysis, Disease, DNA-Directed DNA Polymerase, Central nervous system disease, Cohort Studies, Degenerative disease, Gene Frequency, Genetic, Internal medicine, Aged, DNA Polymerase gamma, Exons, Female, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Humans, Italy, Middle Aged, Mutation, Parkinson Disease, Polymorphism, Genetic, United Kingdom, medicine, Polymorphism, education, education.field_of_study, business.industry, Parkinsonism, Genetic variants, medicine.disease, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e76c487a898c4a5a90488101ecfd6706Test
http://hdl.handle.net/11577/3354335Test