Journal ID (nlm-ta): EMBO Mol Med
Journal ID (iso-abbrev): EMBO Mol Med
Journal ID (doi): 10.1002/(ISSN)1757-4684
Journal ID (publisher-id): EMMM
Journal ID (hwp): embomm
Title:
EMBO Molecular Medicine
Publisher:
John Wiley and Sons Inc.
(Hoboken
)
ISSN
(Print):
1757-4676
ISSN
(Electronic):
1757-4684
Publication date
(Electronic):
17
November
2016
Publication date
(Print):
January
2017
Volume: 9
Issue: 1
(
doiID:
10.1002/emmm.v9.1
)
Pages: 96-111
Affiliations
[
1
]
Department of NeurologyColumbia University Medical Center
New York
NYUSA
[
2
]
Unit of Molecular NeurogeneticsIRCCS Foundation Neurological Institute “Carlo Besta”
MilanItaly
[
3
]
Department of Genetics and Genome SciencesCase Western Reserve University
Cleveland
OHUSA
[
4
]
Department of Clinical and Experimental MedicineUniversity of Messina
MessinaItaly
[
5
]
Irving Institute for Clinical and Translational ResearchColumbia University Medical Center
New York
NYUSA
[
6
]
Department of Pediatrics
Radboud Center for Mitochondrial Medicine (RCMM)RadboudUMC
NijmegenThe Netherlands
[
7
]
Division of Paediatric Neurology
Department of PaediatricsCentre Hospitalier de Luxembourg
Luxembourg CityLuxembourg
[
8
]
Department of Neuropediatrics and NeuroCure Clinical Research CenterCharité‐Universitätsmedizin Berlin
BerlinGermany
[
9
]
Mass Spectrometry Laboratory for Protein Sequencing
Learner Research InstituteCleveland Clinic
Cleveland
OHUSA
Author notes
[†]
These authors contributed equally to this work
[‡]
These authors contributed equally to thus work
Author information
Article
Publisher ID:
EMMM201606356
DOI: 10.15252/emmm.201606356
PMC ID: 5210092
PubMed ID: 27856618
SO-VID: 3ad90cac-1fdc-494e-8897-240960bbc16b
Copyright © © 2016 The Authors. Published under the terms of the CC BY 4.0 license
License:
This is an open access article under the terms of the
Creative Commons Attribution 4.0 License, which permits use, distribution and reproduction in any medium, provided
the original work is properly cited.
Funded by: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Award ID: P01 HD080642‐01
Funded by: National Institutes of Health
Award ID: P01 HD080642‐01
Award ID: 1S10RR031537‐01
Award ID: UL1TR000040
Award ID: R37‐DK060596
Award ID: R01‐DK053307
Funded by: NIH Clinical Translational Science Award (CTSA)
Award ID: UL1TR000040
Funded by: Fondazione Pierfranco e Luisa Mariani
Funded by: Muscle Dystrophy Association (MDA)
Funded by: Department of Defense (DOD)
Funded by: Italian Ministry of Health
Award ID: 79/GR‐2010‐2306756