Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy

Author:

Cipriani Silvia1,Guerrero‐Valero Marta1,Tozza Stefano2ORCID,Zhao Edward34,Vollmer Veith5,Beijer Danique6,Danzi Matt6,Rivellini Cristina1,Lazarevic Dejan7,Pipitone Giovanni Battista8,Grosz Bianca Rose9ORCID,Lamperti Costanza10,Marzoli Stefania Bianchi11,Carrera Paola8,Devoto Marcella1213,Pisciotta Chiara14ORCID,Pareyson Davide14ORCID,Kennerson Marina9,Previtali Stefano C.115ORCID,Zuchner Stephan6,Scherer Steven S.16,Manganelli Fiore2ORCID,Bähler Martin5,Bolino Alessandra1ORCID

Affiliation:

1. Division of Neuroscience Institute of Experimental Neurology, IRCCS Ospedale San Raffaele Milan Italy

2. Department of Neurosciences, Reproductive Sciences and Odontostomatology University of Naples Federico II Naples Italy

3. Vaccine and Infectious Disease Division Fred Hutchinson Cancer Research Center Seattle Washington USA

4. Department of Biostatistics University of Washington Seattle Washington USA

5. Institute of Integrative Cell Biology and Physiology Westfalian Wilhelms University Münster Münster Germany

6. Department of Human Genetics and Hussman Institute for Human Genomics University of Miami Miami Florida USA

7. Center for Omics Sciences IRCCS Ospedale San Raffaele Milan Italy

8. Unit of Genomics for the Diagnosis of Human Pathologies and Laboratory of Clinical and Molecular Biology IRCCS Ospedale San Raffaele Milan Italy

9. Northcott Neuroscience Laboratory, ANZAC Research Institute Sydney Local Health District and Faculty of Health and Medicine University of Sydney Sydney Australia

10. Genetics and Neurogenetics Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

11. Neuroophthalmology Service and Ocular Electrophysiology laboratory, Department of Ophthalmology Scientific Institute, Auxologico Capitanio Hospital Milan Italy

12. Division of Genetics, Children's Hospital of Philadelphia, Department of Pediatrics Perelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania USA

13. CNR‐IRGB Cagliari Italy

14. Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

15. Department of Neurology IRCCS Ospedale San Raffaele Milan Italy

16. Department of Neurology Perelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania USA

Funder

Ministero della Salute

Regione Lombardia

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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