Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation-Reference-Cited by-同舟云学术

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation

Published:2018-10-10 Issue:12 Volume:39 Page:2060-2071
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Magri Stefania¹,Fracasso Valentina¹,Plumari Massimo¹,Alfei Enrico²,Ghezzi Daniele¹³,Gellera Cinzia¹,Rusmini Paola⁴,Poletti Angelo⁴,Di Bella Daniela¹,Elia Antonio E.⁵,Pantaleoni Chiara²,Taroni Franco¹^ORCID

Affiliation:

1. Unit of Medical Genetics and Neurogenetics; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy

2. Unit of Developmental Neurology; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy

3. Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti; Università degli Studi di Milano; Milan Italy

4. Dipartimento di Scienze Farmacologiche e Biomolecolari (DiSFeB); Centro di Eccellenza sulle Malattie Neurodegenerative; Università degli Studi di Milano; Milan Italy

5. Unit of Neurology 1; Fondazione IRCCS Istituto Neurologico Carlo Besta; Milan Italy

Funder

Ministero della Salute

Istituto Superiore di Sanità

Fondazione Telethon

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23658/fullpdf

Reference48 articles.