Literature DB >> 4430158

Genetic and clinical aspects of Charcot-Marie-Tooth's disease.

H Skre.   

Abstract

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Year:  1974        PMID： 4430158     DOI： 10.1111/j.1399-0004.1974.tb00638.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  266 in total

1.  A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

Authors:  I V Mersiyanova; A V Perepelov; A V Polyakov; V F Sitnikov; E L Dadali; R B Oparin; A N Petrin; O V Evgrafov
Journal:  Am J Hum Genet       Date:  2000-06-07       Impact factor: 11.025

2.  Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

Authors:  Heather M McLaughlin; Reiko Sakaguchi; Cuiping Liu; Takao Igarashi; Davut Pehlivan; Kristine Chu; Ram Iyer; Pedro Cruz; Praveen F Cherukuri; Nancy F Hansen; James C Mullikin; Leslie G Biesecker; Thomas E Wilson; Victor Ionasescu; Garth Nicholson; Charles Searby; Kevin Talbot; Jeffrey M Vance; Stephan Züchner; Kinga Szigeti; James R Lupski; Ya-Ming Hou; Eric D Green; Anthony Antonellis
Journal:  Am J Hum Genet       Date:  2010-10-08       Impact factor: 11.025

3.  Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

Authors:  P F Chance; T D Bird; P O'Connell; H Lipe; J M Lalouel; M Leppert
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025

Review 4.  Myelin disorders: Causes and perspectives of Charcot-Marie-Tooth neuropathy.

Authors:  Gerd Meyer zu Hörste; Thomas Prukop; Klaus-Armin Nave; Michael W Sereda
Journal:  J Mol Neurosci       Date:  2006       Impact factor: 3.444

Review 5.  Sciatic nerve tumor and tumor-like lesions - uncommon pathologies.

Authors:  Vibhor Wadhwa; Rashmi S Thakkar; Nicholas Maragakis; Ahmet Höke; Charlotte J Sumner; Thomas E Lloyd; John A Carrino; Allan J Belzberg; Avneesh Chhabra
Journal:  Skeletal Radiol       Date:  2012-03-13       Impact factor: 2.199

6.  Exacerbation of Charcot-Marie-Tooth type 2E neuropathy following traumatic nerve injury.

Authors:  Eric Villalón; Jeffrey M Dale; Maria Jones; Hailian Shen; Michael L Garcia
Journal:  Brain Res       Date:  2015-09-28       Impact factor: 3.252

Review 7.  Inherited neuropathies: clinical overview and update.

Authors:  Christopher J Klein; Xiaohui Duan; Michael E Shy
Journal:  Muscle Nerve       Date:  2013-06-26       Impact factor: 3.217

8.  Long-term analyses of innervation and neuromuscular integrity in the Trembler-J mouse model of Charcot-Marie-Tooth disease.

Authors:  Jessica Renee Nicks; Sooyeon Lee; Kathryne Ann Kostamo; Andrew Benford Harris; Amanda M Sookdeo; Lucia Notterpek
Journal:  J Neuropathol Exp Neurol       Date:  2013-10       Impact factor: 3.685

9.  Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

Authors:  Alejandro Leal; Kathrin Huehne; Finn Bauer; Heinrich Sticht; Philipp Berger; Ueli Suter; Bernal Morera; Gerardo Del Valle; James R Lupski; Arif Ekici; Francesca Pasutto; Sabine Endele; Ramiro Barrantes; Corinna Berghoff; Martin Berghoff; Bernhard Neundörfer; Dieter Heuss; Thomas Dorn; Peter Young; Lisa Santolin; Thomas Uhlmann; Michael Meisterernst; Michael Werner Sereda; Michael Sereda; Ruth Martha Stassart; Gerd Meyer zu Horste; Klaus-Armin Nave; André Reis; Bernd Rautenstrauss
Journal:  Neurogenetics       Date:  2009-03-17       Impact factor: 2.660

Review 10.  The PMP22 gene and its related diseases.

Authors:  Jun Li; Brett Parker; Colin Martyn; Chandramohan Natarajan; Jiasong Guo
Journal:  Mol Neurobiol       Date:  2012-12-07       Impact factor: 5.590
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