Literature DB >> 34668123

Charcot-Marie-Tooth disease type 2S: identical novel missense mutation of IGHMBP2 gene in two unrelated families.

Soumya V Chandrasekharan1, Sruthi S Nair1, Aparna Ganapathy2, Ashraf U Mannan2, Soumya Sundaram3.   

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Year:  2021        PMID: 34668123     DOI: 10.1007/s10072-021-05668-3

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


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  6 in total

1.  Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Authors:  Gudrun Schottmann; Heinz Jungbluth; Ulrike Schara; Ellen Knierim; Susanne Morales Gonzalez; Esther Gill; Franziska Seifert; Fiona Norwood; Charu Deshpande; Katja von Au; Markus Schuelke; Jan Senderek
Journal:  Neurology       Date:  2015-01-07       Impact factor: 9.910

2.  IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.

Authors:  Lei Liu; Xiaobo Li; Zhengmao Hu; Xiao Mao; Xiaohong Zi; Kun Xia; Beisha Tang; Ruxu Zhang
Journal:  Neuromuscul Disord       Date:  2016-11-18       Impact factor: 4.296

Review 3.  Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.

Authors:  Christopher J Klein
Journal:  Continuum (Minneap Minn)       Date:  2020-10

Review 4.  Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies.

Authors:  D Pareyson
Journal:  Neurol Sci       Date:  2004-06       Impact factor: 3.307

5.  Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Authors:  Ellen Cottenie; Andrzej Kochanski; Albena Jordanova; Boglarka Bansagi; Magdalena Zimon; Alejandro Horga; Zane Jaunmuktane; Paola Saveri; Vedrana Milic Rasic; Jonathan Baets; Marina Bartsakoulia; Rafal Ploski; Pawel Teterycz; Milos Nikolic; Ros Quinlivan; Matilde Laura; Mary G Sweeney; Franco Taroni; Michael P Lunn; Isabella Moroni; Michael Gonzalez; Michael G Hanna; Conceicao Bettencourt; Elodie Chabrol; Andre Franke; Katja von Au; Markus Schilhabel; Dagmara Kabzińska; Irena Hausmanowa-Petrusewicz; Sebastian Brandner; Siew Choo Lim; Haiwei Song; Byung-Ok Choi; Rita Horvath; Ki-Wha Chung; Stephan Zuchner; Davide Pareyson; Matthew Harms; Mary M Reilly; Henry Houlden
Journal:  Am J Hum Genet       Date:  2014-10-30       Impact factor: 11.025

6.  Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.

Authors:  Andrea Cortese; Janel E Wilcox; James M Polke; Roy Poh; Mariola Skorupinska; Alexander M Rossor; Matilde Laura; Pedro J Tomaselli; Henry Houlden; Michael E Shy; Mary M Reilly
Journal:  Neurology       Date:  2019-12-11       Impact factor: 9.910

  6 in total

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