SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder-Reference-Cited by-同舟云学术

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Published:2019-11-18 Issue:1 Volume:130 Page:108-125
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Del Dotto Valentina,Ullah Farid^ORCID,Di Meo Ivano^ORCID,Magini Pamela,Gusic Mirjana,Maresca Alessandra,Caporali Leonardo^ORCID,Palombo Flavia^ORCID,Tagliavini Francesca,Baugh Evan Harris,Macao Bertil,Szilagyi Zsolt,Peron Camille,Gustafson Margaret A.,Khan Kamal^ORCID,La Morgia Chiara,Barboni Piero,Carbonelli Michele,Valentino Maria Lucia,Liguori Rocco^ORCID,Shashi Vandana,Sullivan Jennifer,Nagaraj Shashi,El-Dairi Mays^ORCID,Iannaccone Alessandro^ORCID,Cutcutache Ioana^ORCID,Bertini Enrico^ORCID,Carrozzo Rosalba^ORCID,Emma Francesco,Diomedi-Camassei Francesca^ORCID,Zanna Claudia^ORCID,Armstrong Martin,Page Matthew,Stong Nicholas^ORCID,Boesch Sylvia,Kopajtich Robert,Wortmann Saskia,Sperl Wolfgang,Davis Erica E.,Copeland William C.^ORCID,Seri Marco^ORCID,Falkenberg Maria^ORCID,Prokisch Holger^ORCID,Katsanis Nicholas,Tiranti Valeria^ORCID,Pippucci Tommaso,Carelli Valerio^ORCID

Funder

Italian Ministry of Health

German Network for Mitochondrial Disorders

Intramural Research Program of the NIH

Higher Education Commission of Pakistan

Duke University Health system

E-Rare project GENOMIT

Mariani Foundation

Mitocon

Associazione Luigi Comini Onlus

Publisher

American Society for Clinical Investigation