Analysis of LMNB 1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression

Author:

Giorgio Elisa1,Rolyan Harshvardhan2,Kropp Laura2,Chakka Anish Baswanth3,Yatsenko Svetlana45,Gregorio Eleonora Di16,Lacerenza Daniela1,Vaula Giovanna7,Talarico Flavia6,Mandich Paola8,Toro Camilo9,Pierre Eleonore Eymard10,Labauge Pierre11,Capellari Sabina12,Cortelli Pietro12,Vairo Filippo Pinto13,Miguel Diego13,Stubbolo Danielle14,Marques Lourenco Charles15,Gahl William9,Boespflug‐Tanguy Odile1617,Melberg Atle18,Hassin‐Baer Sharon1920,Cohen Oren S.1920,Pjontek Rastislav21,Grau Armin22,Klopstock Thomas23242526,Fogel Brent27,Meijer Inge28,Rouleau Guy28,Bouchard Jean‐Pierre L.29,Ganapathiraju Madhavi3,Vanderver Adeline30,Dahl Niklas31,Hobson Grace143233,Brusco Alfredo16,Brussino Alessandro1,Padiath Quasar Saleem2

Affiliation:

1. University of Torino Department of Medical Sciences Torino Italy

2. Department of Human Genetics Graduate School of Public Health University of Pittsburgh Pittsburgh Pennsylvania

3. Department of Biomedical Informatics School of Medicine University of Pittsburgh Pittsburgh Pennsylvania

4. Department of Obstetrics Gynecology and Reproductive Sciences University of Pittsburgh Pittsburgh Pennsylvania

5. Department of Pathology University of Pittsburgh School of Medicine Pittsburgh Pennsylvania

6. S.C.D.U. Medical Genetics Az. Osp. Città della Salute e della Scienza Torino Italy

7. Department of Neuroscience Az. Osp. Città della Salute e della Scienza Torino Italy

8. Department of Neurology, Ophthalmology and Genetics, di Bologna Department of Biomedical and NeuroMotor Sciences (DIBINEM) Alma Mater Studiorum Bologna Italy

9. NIH Undiagnosed Diseases Program NIH Office of Rare Disease Research and NHGRI Bethesda Maryland

10. CHU de Clermont‐Ferrand Department of Genetics and Cytogenetics France

11. Neurologie Hopital Caremeau Centre Hospitalo‐Universitaire de Nimes Nimes France

12. University of Bologna IRCCS Istituto delle Scienze Neurologiche di Bologna Department of Biomedical and NeuroMotor Sciences (DIBINEM) Alma Mater Studiorum Italy

13. Hospital de Clínicas de Porto Alegre & Universidade Federal do Rio Grande do Sul Porto Alegre Brazil

14. Nemours Biomedical Research Alfred I. duPont Hospital for Children Wilmington Delaware

15. Department of Medical Genetics Clinics Hospital of Ribeirao Preto University of Sao Paulo Sao Paulo Brazil

16. Institut National de la Santé et de la Recherche Médicale (INSERM) – Paris Diderot Sorbonne Paris Cité University,  Robert Debré Hospital Paris France

17. Assistance Publique des Hopitaux de Paris Reference Center for Rare Diseases “Leukodystrophies” Child Neurology and Metabolic Disorders Department Paris France

18. Department of Neuroscience Neurology Uppsala University Uppsala Sweden

19. Parkinson's disease and Movement Disorders Clinic Department of Neurology Chaim Sheba Medical Center Tel Aviv Israel

20. Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel

21. Department of Neurology University of Heidelberg Heidelberg Germany

22. Dept. of Neurology Klinikum Ludwigshafen Ludwigshafen Germany

23. Dept. of Neurology Friedrich‐Baur‐Institute Ludwig‐Maximilians‐University Munich Germany

24. German Center for Vertigo and Balance Disorders Munich Germany

25. DZNE – German Center for Neurodegenerative Diseases Munich Germany

26. German Network for Mitochondrial Disorders (mitoNET) Germany

27. Department of Neurology David Geffen School of Medicine University of California Los Angeles California

28. Montreal Neurological Institute McGill University Montreal Canada

29. Department of Neurological Sciences CHA – Hôpital de l'Enfant‐Jésus Quebec City Canada

30. Department of Neurology Childrens National Medical Center Washington District of Columbia

31. Dept. of Immunology Genetics and Pathology Section of Clinical Genetics The Rudbeck laboratory Uppsala University Children's Hospital Uppsala Sweden

32. University of Delaware Department of Biology Newark Delaware

33. Thomas Jefferson University Jefferson Medical College Philadelphia Pennsylvania

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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