Literature DB >> 28402445

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.

Ginevra Zanni1, Marta Nardella1, Sabina Barresi2, Emanuele Bellacchio3, Marcello Niceta2, Andrea Ciolfi2, Stefano Pro4, Stefano D'Arrigo5, Marco Tartaglia2, Enrico Bertini1.   

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Year:  2017        PMID： 28402445     DOI： 10.1093/brain/awx083

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


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  7 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

Review 2.  Clinical genetics of Charcot-Marie-Tooth disease.

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

3.  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

4.  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

5.  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

6.  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

7.  Morc2a p.S87L mutant mice develop peripheral and central neuropathies associated with neuronal DNA damage and apoptosis.

Authors:  Geon Seong Lee; Geon Kwak; Ji Hyun Bae; Jeong Pil Han; Soo Hyun Nam; Jeong Hyeon Lee; Sumin Song; Gap-Don Kim; Tae Sub Park; Yang Kyu Choi; Byung-Ok Choi; Su Cheong Yeom
Journal:  Dis Model Mech       Date:  2021-10-25       Impact factor: 5.758
  7 in total

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