المؤلفون: Majida Charif (326461), Yvette C. Wong (10199484), Soojin Kim (415355), Agnès Guichet (7375814), Catherine Vignal (5675447), Xavier Zanlonghi (7362470), Philippe Bensaid (236805), Vincent Procaccio (68193), Dominique Bonneau (144939), Patrizia Amati-Bonneau (144951), Pascal Reynier (92729), Dimitri Krainc (1406062), Guy Lenaers (10199487)

مصطلحات موضوعية: Medicine, Cell Biology, Genetics, Neuroscience, Cancer, Science Policy, Infectious Diseases, Computational Biology, Chemical Sciences not elsewhere classified, Mitochondria dynamics, Mitochondrial disease, MIEF1, Mid51, Dominant optic atrophy (DOA), Inherited optic neuropathy (ION), Peripheral visual field, Neurodegeneration

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Dominant_mutations_in_MIEF1_affect_mitochondrial_dynamics_and_cause_a_singular_late_onset_optic_neuropathy/14121759

الاتاحة: https://doi.org/10.6084/m9.figshare.14121759.v1

المؤلفون: Majida Charif (326461), Céline Bris (7375808), David Goudenège (10431803), Valérie Desquiret-Dumas (209252), Estelle Colin (3501734), Alban Ziegler (7375799), Vincent Procaccio (68193), Pascal Reynier (92729), Dominique Bonneau (144939), Guy Lenaers (563171), Patrizia Amati-Bonneau (144951)

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, inherited optic neuropathies, mitochondrial disorders, molecular diagnosis, next generation sequencing, retinal ganglia cells

Relation: https://figshare.com/articles/dataset/Table_2_Use_of_Next-Generation_Sequencing_for_the_Molecular_Diagnosis_of_1_102_Patients_With_a_Autosomal_Optic_Neuropathy_XLSX/14300300

الاتاحة: https://doi.org/10.3389/fneur.2021.602979.s002

المؤلفون: Majida Charif (326461), Céline Bris (7375808), David Goudenège (10431803), Valérie Desquiret-Dumas (209252), Estelle Colin (3501734), Alban Ziegler (7375799), Vincent Procaccio (68193), Pascal Reynier (92729), Dominique Bonneau (144939), Guy Lenaers (563171), Patrizia Amati-Bonneau (144951)

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, inherited optic neuropathies, mitochondrial disorders, molecular diagnosis, next generation sequencing, retinal ganglia cells

Relation: https://figshare.com/articles/dataset/Table_1_Use_of_Next-Generation_Sequencing_for_the_Molecular_Diagnosis_of_1_102_Patients_With_a_Autosomal_Optic_Neuropathy_XLSX/14300297

الاتاحة: https://doi.org/10.3389/fneur.2021.602979.s001