Literature DB >> 26136520

Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation.

Chang-He Shi1, Bo Song1, Hai-Yang Luo1, Cheng-Yuan Mao1, Dan-Dan Shang1, Yuan Cao1, Shi-Lei Sun1, Jun Wu1, Zheng-Ping Zhuang1, Yu-Ming Xu2.   

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Year:  2015        PMID： 26136520      PMCID： PMC4520818          DOI： 10.1212/WNL.0000000000001747

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

1.  Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.

Authors:  Chang-He Shi; Jonathan C Schisler; Carrie E Rubel; Song Tan; Bo Song; Holly McDonough; Lei Xu; Andrea L Portbury; Cheng-Yuan Mao; Cadence True; Rui-Hao Wang; Qing-Zhi Wang; Shi-Lei Sun; Stephanie B Seminara; Cam Patterson; Yu-Ming Xu
Journal:  Hum Mol Genet       Date:  2013-10-09       Impact factor: 6.150

2.  Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

Authors:  K Grohmann; M Schuelke; A Diers; K Hoffmann; B Lucke; C Adams; E Bertini; H Leonhardt-Horti; F Muntoni; R Ouvrier; A Pfeufer; R Rossi; L Van Maldergem; J M Wilmshurst; T F Wienker; M Sendtner; S Rudnik-Schöneborn; K Zerres; C Hübner
Journal:  Nat Genet       Date:  2001-09       Impact factor: 38.330

3.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.

Authors:  Kai Wang; Mingyao Li; Hakon Hakonarson
Journal:  Nucleic Acids Res       Date:  2010-07-03       Impact factor: 16.971

4.  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

Review 5.  Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

Authors:  Alexander M Rossor; James M Polke; Henry Houlden; Mary M Reilly
Journal:  Nat Rev Neurol       Date:  2013-09-10       Impact factor: 42.937

6.  Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.

Authors:  Vincent Timmerman; Alleene V Strickland; Stephan Züchner
Journal:  Genes (Basel)       Date:  2014-01-22       Impact factor: 4.096

Review 7.  The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.

Authors:  Francesca Porro; Paola Rinchetti; Francesca Magri; Giulietta Riboldi; Monica Nizzardo; Chiara Simone; Chiara Zanetta; Irene Faravelli; Stefania Corti
Journal:  J Neurol Sci       Date:  2014-09-16       Impact factor: 3.181
  7 in total
  2 in total

1.  Clinical diversity caused by novel IGHMBP2 variants.

Authors:  Jun-Hui Yuan; Akihiro Hashiguchi; Akiko Yoshimura; Hiroshi Yaguchi; Koji Tsuzaki; Azusa Ikeda; Kenji Wada-Isoe; Masahiro Ando; Tomonori Nakamura; Yujiro Higuchi; Yu Hiramatsu; Yuji Okamoto; Hiroshi Takashima
Journal:  J Hum Genet       Date:  2017-03-09       Impact factor: 3.172

2.  Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.

Authors:  Tatiana Tiago; Barbara Hummel; Federica F Morelli; Valentina Basile; Jonathan Vinet; Veronica Galli; Laura Mediani; Francesco Antoniani; Silvia Pomella; Matteo Cassandri; Maria Giovanna Garone; Beatrice Silvestri; Marco Cimino; Giovanna Cenacchi; Roberta Costa; Vincent Mouly; Ina Poser; Esti Yeger-Lotem; Alessandro Rosa; Simon Alberti; Rossella Rota; Anat Ben-Zvi; Ritwick Sawarkar; Serena Carra
Journal:  Cell Death Dis       Date:  2021-05-06       Impact factor: 8.469
  2 in total

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