Literature DB >> 30403323

MYOD1 involvement in myopathy.

F Lopes1,2,3, M Miguet3,4, B E Mucha3, J Gauthier3,5, V Saillour3,6, C-T É Nguyen3,7, M Vanasse3,7, B Ellezam3,8, J L Michaud3,7, J-F Soucy3,5, P M Campeau3,7.   

Abstract

Entities:  

Keywords:  Myogenic Differentiation 1; myopathy; respiratory insufficiency

Year:  2018        PMID： 30403323     DOI： 10.1111/ene.13782

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  4 in total

1.  Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Authors:  Lindsay C Burrage; John J Reynolds; Nissan Vida Baratang; Jennifer B Phillips; Jeremy Wegner; Ashley McFarquhar; Martin R Higgs; Audrey E Christiansen; Denise G Lanza; John R Seavitt; Mahim Jain; Xiaohui Li; David A Parry; Vandana Raman; David Chitayat; Ivan K Chinn; Alison A Bertuch; Lefkothea Karaviti; Alan E Schlesinger; Dawn Earl; Michael Bamshad; Ravi Savarirayan; Harsha Doddapaneni; Donna Muzny; Shalini N Jhangiani; Christine M Eng; Richard A Gibbs; Weimin Bi; Lisa Emrick; Jill A Rosenfeld; John Postlethwait; Monte Westerfield; Mary E Dickinson; Arthur L Beaudet; Emmanuelle Ranza; Celine Huber; Valérie Cormier-Daire; Wei Shen; Rong Mao; Jason D Heaney; Jordan S Orange; Débora Bertola; Guilherme L Yamamoto; Wagner A R Baratela; Merlin G Butler; Asim Ali; Mehdi Adeli; Daniel H Cohn; Deborah Krakow; Andrew P Jackson; Melissa Lees; Amaka C Offiah; Colleen M Carlston; John C Carey; Grant S Stewart; Carlos A Bacino; Philippe M Campeau; Brendan Lee
Journal:  Am J Hum Genet       Date:  2019-02-14       Impact factor: 11.025

Review 2.  Underlying genetic etiologies of congenital diaphragmatic hernia.

Authors:  Daryl A Scott; Yoel Gofin; Aliska M Berry; April D Adams
Journal:  Prenat Diagn       Date:  2022-01-22       Impact factor: 3.050

3.  Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.

Authors:  Massimo Ganassi; Francesco Muntoni; Peter S Zammit
Journal:  Exp Cell Res       Date:  2021-11-03       Impact factor: 3.905

4.  Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.

Authors:  Massimo Ganassi; Peter S Zammit
Journal:  Eur J Transl Myol       Date:  2022-03-18
  4 in total

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