Literature DB >> 29529130

Reply: The expanding neurological phenotype of DNM1L-related disorders.

Sylvie Gerber1, Majida Charif2, Arnaud Chevrollier2, Tanguy Chaumette2, Claire Angebault3, Selma Kane2, Aurélien Paris2, Jennifer Alban2, Mélanie Quiles3, Cécile Delettre3, Dominique Bonneau2, Vincent Procaccio2, Patrizia Amati-Bonneau2, Pascal Reynier2, Stéphanie Leruez2, Raphael Calmon1, Nathalie Boddaert1, Benoit Funalot4,5,6, Marlène Rio4,5,6, Didier Bouccara7, Isabelle Meunier3, Hiromi Sesaki8, Josseline Kaplan1, Christian P Hamel3, Jean-Michel Rozet1, Guy Lenaers2.   

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Year:  2018        PMID： 29529130     DOI： 10.1093/brain/awy027

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  4 in total

1.  De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.

Authors:  Nurit Assia Batzir; Pranjali K Bhagwat; Tanya N Eble; Pengfei Liu; Christine M Eng; Sarah H Elsea; Laurie A Robak; Fernando Scaglia; Alica M Goldman; Shweta U Dhar; Michael F Wangler
Journal:  Cold Spring Harb Mol Case Stud       Date:  2019-06-03

Review 2.  Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches.

Authors:  Michela Di Nottia; Daniela Verrigni; Alessandra Torraco; Teresa Rizza; Enrico Bertini; Rosalba Carrozzo
Journal:  Genes (Basel)       Date:  2021-02-10       Impact factor: 4.096

3.  MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy.

Authors:  Sylvie Gerber; Christophe Orssaud; Josseline Kaplan; Catrine Johansson; Jean-Michel Rozet
Journal:  Genes (Basel)       Date:  2021-04-02       Impact factor: 4.096

4.  Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.

Authors:  Charlène Lhuissier; Bart E Wagner; Amy Vincent; Gaëtan Garraux; Olivier Hougrand; Rudy Van Coster; Valerie Benoit; Deniz Karadurmus; Guy Lenaers; Naïg Gueguen; Arnaud Chevrollier; Isabelle Maystadt
Journal:  Front Neurol       Date:  2022-09-23       Impact factor: 4.086
  4 in total

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