Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations-Reference-Cited by-同舟云学术

Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations

Published:2019-01-08 Issue:10 Volume:28 Page:1629-1644
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Sancho Paula¹,Bartesaghi Luca²³,Miossec Olivia²³,García-García Francisco⁴,Ramírez-Jiménez Laura⁵,Siddell Anna⁶⁷,Åkesson Elisabet⁸⁹,Hedlund Eva²,Laššuthová Petra¹⁰,Pascual-Pascual Samuel I¹¹,Sevilla Teresa¹²¹³,Kennerson Marina⁶⁷¹⁴,Lupo Vincenzo¹⁵¹⁵,Chrast Roman²³,Espinós Carmen¹⁵¹⁵^ORCID

Affiliation:

1. Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain

2. Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden

3. Department of Clinical Neuroscience, Karolinska Institutet, 17165 Stockholm, Sweden

4. Unit of Bioinformatics and Biostatistics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain

5. Department of Genomics and Translational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain

6. Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord NSW, Australia

7. Sydney Medical School, University of Sydney, Sydney NSW, Australia

8. Division of Neurodegeneration, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden

9. The R&D Unit, Stiftelsen Stockholms Sjukhemm, 14152, Sweden

10. Department of Pediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

11. Department of Pediatric Neurology, Hospital Universitario La Paz, Madrid, Spain

12. Department of Neurology, Hospital Universitari i Politècnic La Fe, and CIBER of Rare Diseases (CIBERER), Valencia, Spain

13. Department of Medicine, University of Valencia, Valencia, Spain

14. Molecular Medicine Laboratory, Concord Hospital, Concord NSW, Australia

15. INCLIVA & IIS-La Fe Rare Diseases Joint Units, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain

Funder

Instituto de Salud Carlos III

Subdirección General de Evaluación y Fomento de la Investigación

Federación Española de Enfermedades Raras

Ramón Areces Foundation

Generalitat Valenciana

National Health and Medical Research Council of Australia Grant