ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy-Reference-Cited by-同舟云学术

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

Published:2020-04-21 Issue:1 Volume:88 Page:18-32
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Caporali Leonardo¹^ORCID,Magri Stefania²,Legati Andrea²,Del Dotto Valentina³,Tagliavini Francesca¹,Balistreri Francesca²,Nasca Alessia²,La Morgia Chiara¹³,Carbonelli Michele¹,Valentino Maria L.¹³,Lamantea Eleonora²,Baratta Silvia²,Schöls Ludger⁴⁵,Schüle Rebecca⁴⁵,Barboni Piero⁶⁷,Cascavilla Maria L.⁷,Maresca Alessandra¹,Capristo Mariantonietta¹,Ardissone Anna⁸,Pareyson Davide⁹^ORCID,Cammarata Gabriella¹⁰,Melzi Lisa¹⁰,Zeviani Massimo¹¹,Peverelli Lorenzo¹²,Lamperti Costanza²,Marzoli Stefania B.¹⁰,Fang Mingyan¹³^ORCID,Synofzik Matthis⁴⁵,Ghezzi Daniele²¹⁴^ORCID,Carelli Valerio¹³,Taroni Franco²^ORCID

Affiliation:

1. IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica Bologna Italy

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

3. Neurology Unit, Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy

4. Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology University of Tübingen Tübingen Germany

5. German Center for Neurodegenerative Diseases Tübingen Germany

6. Studio Oculistico D'Azeglio Bologna Italy

7. IRCCS Ospedale San Raffaele Milan Italy

8. Unit of Child Neurology Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

9. Unit of Rare Neurodegenerative and Neurometabolic Diseases Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

10. Neuro‐Ophthalmology Center and Ocular Electrophysiology Laboratory, IRCCS Istituto Auxologico Italiano Capitanio Hospital Milan Italy

11. Department of Neuroscience University of Padua Padua Italy

12. Neurology Unit, Azienda Socio Sanitaria Territoriale Lodi Ospedale Maggiore di Lodi Lodi Italy

13. Beijing Genomics Institute‐Shenzhen Shenzhen China

14. Department of Medical‐Surgical Physiopathology and Transplantation University of Milan Milan Italy

Funder

Fondazione Pierfranco e Luisa Mariani