Literature DB >> 28334961

High intra-familiar clinical variability in MORC2 mutated CMT2 patients.

Claudio Semplicini1,2, Elisabeth Ollagnon-Roman3, Sarah Leonard-Louis1, Guenaelle Piguet-Lacroix4, Manon Silvestre4, Philippe Latour4, Tanya Stojkovic1.   

Abstract

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Year:  2017        PMID： 28334961     DOI： 10.1093/brain/awx019

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


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  5 in total

Review 1.  Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies.

Authors:  Arnaud Jacquier; Simon Roubille; Patrick Lomonte; Laurent Schaeffer
Journal:  Front Cell Neurosci       Date:  2022-06-03       Impact factor: 6.147

2.  De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

Authors:  Maria J Guillen Sacoto; Iva A Tchasovnikarova; Erin Torti; Cara Forster; E Hallie Andrew; Irina Anselm; Kristin W Baranano; Lauren C Briere; Julie S Cohen; William J Craigen; Cheryl Cytrynbaum; Nina Ekhilevitch; Matthew J Elrick; Ali Fatemi; Jamie L Fraser; Renata C Gallagher; Andrea Guerin; Devon Haynes; Frances A High; Cara N Inglese; Courtney Kiss; Mary Kay Koenig; Joel Krier; Kristin Lindstrom; Michael Marble; Hannah Meddaugh; Ellen S Moran; Chantal F Morel; Weiyi Mu; Eric A Muller; Jessica Nance; Marvin R Natowicz; Adam L Numis; Bridget Ostrem; John Pappas; Carl E Stafstrom; Haley Streff; David A Sweetser; Marta Szybowska; Melissa A Walker; Wei Wang; Karin Weiss; Rosanna Weksberg; Patricia G Wheeler; Grace Yoon; Robert E Kingston; Jane Juusola
Journal:  Am J Hum Genet       Date:  2020-07-20       Impact factor: 11.025

3.  Neuropathic MORC2 mutations perturb GHKL ATPase dimerization dynamics and epigenetic silencing by multiple structural mechanisms.

Authors:  Christopher H Douse; Stuart Bloor; Yangci Liu; Maria Shamin; Iva A Tchasovnikarova; Richard T Timms; Paul J Lehner; Yorgo Modis
Journal:  Nat Commun       Date:  2018-02-13       Impact factor: 14.919

Review 4.  MORC2 gene de novo mutation leads to Charcot-Marie-Tooth disease type 2Z: A pediatric case report and literature review.

Authors:  Haiyan Yang; Sai Yang; Qingyun Kang; Liming Yang; Hongmei Liao; Liwen Wu
Journal:  Medicine (Baltimore)       Date:  2021-09-17       Impact factor: 1.889

5.  Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients.

Authors:  Xiaohui Duan; Xiaoxuan Liu; Guochun Wang; Weihong Gu; Min Xu; Ying Hao; Mingrui Dong; Qing Sun; Shaojie Sun; Yuanyuan Chen; Wei Wang; Jing Li; Yuting Zhang; Zhenhua Cao; Dongsheng Fan; Renbin Wang; Yuwei Da
Journal:  Orphanet J Rare Dis       Date:  2021-05-31       Impact factor: 4.123
  5 in total

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