A form of muscular dystrophy associated with pathogenic variants in JAG2

Sandra Coppens; Alison Barnard; Sanna Puusepp; Sander Pajusalu; Katrin Õunap; Dorianmarie Vargas-Franco; Christine Bruels; Sandra Donkervoort; Lynn Pais; Katherine Chao; Julia Goodrich; Eleina England; Ben Weisburd; Vijay Ganesh; Sanna Gudmundsson; Anne O’donnell-Luria; Mait Nigul; Pilvi Ilves; Payam Mohassel; Teepu Siddique; Margherita Milone; Stefan Nicolau; Reza Maroofian; Henry Houlden; Michael Hanna; Ros Quinlivan; Mehran Beiraghi Toosi; Ehsan Ghayoor Karimiani; Sabine Costagliola; Nicolas Deconinck; Hazim Kadhim; Erica Macke; Brendan Lanpher; Eric Klee; Anna Łusakowska; Anna Kostera-Pruszczyk; Andreas Hahn; Bertold Schrank; Ichizo Nishino; Masashi Ogasawara; Rasha El Sherif; Tanya Stojkovic; Isabelle Nelson; Gisèle Bonne; Enzo Cohen; Anne Boland-Augé; Jean-François Deleuze; Yao Meng; Ana Töpf; Catheline Vilain; Christina Pacak; Marie Rivera-Zengotita; Carsten Bönnemann; Volker Straub; Penny Handford; Isabelle Draper; Glenn Walter; Peter Kang

doi:10.1016/j.ajhg.2021.04.018

Journal Articles American Journal of Human Genetics Year : 2021

A form of muscular dystrophy associated with pathogenic variants in JAG2

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Sandra Coppens

Function : Author

Children's University Hospital Queen Fabiola [Bruxelles, Belgium]

Alison Barnard

Function : Author

Sanna Puusepp

Function : Author

Sander Pajusalu

Function : Author

Katrin Õunap

Function : Author

University of Tartu

Dorianmarie Vargas-Franco

Function : Author

Christine Bruels

Function : Author

Sandra Donkervoort

Function : Author

National Institute of Neurological Disorders and Stroke [Bethesda]

Lynn Pais

Function : Author

Katherine Chao

Function : Author

Broad Institute of MIT and Harvard

Julia Goodrich

Function : Author

Eleina England

Function : Author

Ben Weisburd

Function : Author

Vijay Ganesh

Function : Author

Broad Institute of MIT and Harvard

Harvard Medical School [Boston]

Sanna Gudmundsson

Function : Author

Anne O’donnell-Luria

Function : Author

Mait Nigul

Function : Author

Pilvi Ilves

Function : Author

Payam Mohassel

Function : Author

Teepu Siddique

Function : Author

Margherita Milone

Function : Author

Stefan Nicolau

Function : Author

Reza Maroofian

Function : Author

Henry Houlden

Function : Author

Michael Hanna

Function : Author

Ros Quinlivan

Function : Author

Mehran Beiraghi Toosi

Function : Author

Ehsan Ghayoor Karimiani

Function : Author

Sabine Costagliola

Function : Author

Nicolas Deconinck

Function : Author

Hazim Kadhim

Function : Author

Erica Macke

Function : Author

Brendan Lanpher

Function : Author

Eric Klee

Function : Author

Anna Łusakowska

Function : Author

Anna Kostera-Pruszczyk

Function : Author

Andreas Hahn

Function : Author

Bertold Schrank

Function : Author

Ichizo Nishino

Function : Author

Masashi Ogasawara

Function : Author

Rasha El Sherif

Function : Author

Tanya Stojkovic

Function : Author

Isabelle Nelson

Function : Author
PersonId : 1094598
IdHAL : isabelle-nelson

Centre de recherche en myologie

Centre de recherche en Myologie – U974 SU-INSERM

Gisèle Bonne

Function : Author
PersonId : 183818
IdHAL : gisele-bonne
ORCID : 0000-0002-2516-3258
IdRef : 075894920

CV

Enzo Cohen

Function : Author

Anne Boland-Augé

Function : Author

Jean-François Deleuze

Function : Author

Yao Meng

Function : Author

Ana Töpf

Function : Author

Catheline Vilain

Function : Author

Christina Pacak

Function : Author

Marie Rivera-Zengotita

Function : Author

Carsten Bönnemann

Function : Author

Volker Straub

Function : Author

Penny Handford

Function : Author

Isabelle Draper

Function : Author

Glenn Walter

Function : Author

Peter Kang

Function : Author

Domains

Life Sciences [q-bio]

isabelle Nelson : Connect in order to contact the contributor

https://hal.sorbonne-universite.fr/hal-03854149

Submitted on : Tuesday, November 15, 2022-4:17:56 PM

Last modification on : Saturday, October 7, 2023-9:36:25 PM

Dates and versions

hal-03854149 , version 1 (15-11-2022)

Identifiers

HAL Id : hal-03854149 , version 1
DOI : 10.1016/j.ajhg.2021.04.018

Cite

Sandra Coppens, Alison Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, et al.. A form of muscular dystrophy associated with pathogenic variants in JAG2. American Journal of Human Genetics, 2021, 108 (6), pp.1164. ⟨10.1016/j.ajhg.2021.04.018⟩. ⟨hal-03854149⟩

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A form of muscular dystrophy associated with pathogenic variants in JAG2

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