Literature DB >> 27794525

MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.

Gudrun Schottmann1, Christiane Wagner2, Franziska Seifert1, Werner Stenzel3, Markus Schuelke1.   

Abstract

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Year:  2016        PMID： 27794525     DOI： 10.1093/brain/aww252

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


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  13 in total

1.  Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.

Authors:  Iva A Tchasovnikarova; Richard T Timms; Christopher H Douse; Rhys C Roberts; Gordon Dougan; Robert E Kingston; Yorgo Modis; Paul J Lehner
Journal:  Nat Genet       Date:  2017-06-05       Impact factor: 38.330

Review 2.  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

Review 3.  Clinical genetics of Charcot-Marie-Tooth disease.

Authors:  Yujiro Higuchi; Hiroshi Takashima
Journal:  J Hum Genet       Date:  2022-03-18       Impact factor: 3.755

4.  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

5.  A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.

Authors:  Dragan Vujovic; David R Cornblath; Steven S Scherer
Journal:  J Peripher Nerv Syst       Date:  2021-04-19       Impact factor: 5.188

6.  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 7.  Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.

Authors:  Hooi Ling Teoh; Kate Carey; Hugo Sampaio; David Mowat; Tony Roscioli; Michelle Farrar
Journal:  Neural Plast       Date:  2017-05-28       Impact factor: 3.599

8.  UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy.

Authors:  Hannah K Shorrock; Dinja van der Hoorn; Penelope J Boyd; Maica Llavero Hurtado; Douglas J Lamont; Brunhilde Wirth; James N Sleigh; Giampietro Schiavo; Thomas M Wishart; Ewout J N Groen; Thomas H Gillingwater
Journal:  Brain       Date:  2018-10-01       Impact factor: 13.501

9.  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

10.  Selective silencing of euchromatic L1s revealed by genome-wide screens for L1 regulators.

Authors:  Nian Liu; Cameron H Lee; Tomek Swigut; Edward Grow; Bo Gu; Michael C Bassik; Joanna Wysocka
Journal:  Nature       Date:  2017-12-06       Impact factor: 49.962
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