المؤلفون: Corona, P., Lamantea, E., Greco, M., Carrara, F., Agostino, A., Guidetti, D., Dotti, M. T., Mariotti, C., Zeviani, M.

المصدر: Annals of Neurology; 2002, Vol. 51 Issue 1, p118-122, 5p

المؤلفون: Corona, Paola, Antozzi, Carlo, Carrara, Franco, D'Incerti, Ludovico, Lamantea, Eleonora, Tiranti, Valeria, Zeviani, Massimo, Corona, P, Antozzi, C, Carrara, F, D'Incerti, L, Lamantea, E, Tiranti, V, Zeviani, M

المصدر: Annals of Neurology; 2001, Vol. 49 Issue 1, p106-110, 5p

المؤلفون: Maria Lucia Valentino, Stefania Magri, Matthis Synofzik, Lorenzo Peverelli, Mingyan Fang, Alessia Nasca, Piero Barboni, Andrea Legati, Anna Ardissone, Stefania Bianchi Marzoli, Francesca Tagliavini, Eleonora Lamantea, Silvia Baratta, Daniele Ghezzi, Costanza Lamperti, Valerio Carelli, Chiara La Morgia, Rebecca Schüle, Mariantonietta Capristo, Gabriella Cammarata, Leonardo Caporali, Francesca Balistreri, Valentina Del Dotto, Davide Pareyson, Massimo Zeviani, L Melzi, Ludger Schöls, Michele Carbonelli, Franco Taroni, Maria Lucia Cascavilla, Alessandra Maresca

المساهمون: Caporali L., Magri S., Legati A., Del Dotto V., Tagliavini F., Balistreri F., Nasca A., La Morgia C., Carbonelli M., Valentino M.L., Lamantea E., Baratta S., Schols L., Schule R., Barboni P., Cascavilla M.L., Maresca A., Capristo M., Ardissone A., Pareyson D., Cammarata G., Melzi L., Zeviani M., Peverelli L., Lamperti C., Marzoli S.B., Fang M., Synofzik M., Ghezzi D., Carelli V., Taroni F.

المصدر: Annals of Neurology
Annals of neurology 88(1), 18-32 (2020). doi:10.1002/ana.25723

مصطلحات موضوعية: Male, 0301 basic medicine, DOA, Gene mutation, medicine.disease_cause, ATP-Dependent Proteases, ATPases Associated with Diverse Cellular Activities, Adolescent, Adult, Aged, Child, Female, GTP Phosphohydrolases, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Middle Aged, Mutation, Optic Atrophy, Optic Nerve Diseases, Pedigree, Whole Exome Sequencing, Young Adult, OPA1, genetics [Optic Atrophy], Optic neuropathy, 0302 clinical medicine, genetics [ATPases Associated with Diverse Cellular Activities], Research Articles, Exome sequencing, Genetics, genetics [Optic Nerve Diseases], Neurology, Spinocerebellar ataxia, medicine.symptom, Research Article, genetics [GTP Phosphohydrolases], Spastic gait, Ataxia, Biology, SCA28, 03 medical and health sciences, Atrophy, Exome Sequencing, medicine, ddc:610, AFG3L2, medicine.disease, eye diseases, optic neuropathy, 030104 developmental biology, genetics [ATP-Dependent Proteases], Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46c2c378c78c80511b96cd807a4395b2Test
https://doi.org/10.1002/ana.25723Test