Literature DB >> 8293174

Inherited neuropathies: the interface between molecular genetics and pathology.

P K Thomas1, A E Harding.   

Abstract

Entities:  

Mesh：

Year:  1993        PMID： 8293174     DOI： 10.1111/j.1750-3639.1993.tb00737.x

Source DB:  PubMed          Journal:  Brain Pathol        ISSN： 1015-6305            Impact factor:   6.508


× No keyword cloud information.
  4 in total

1.  Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

Authors:  H Azzedine; J Senderek; C Rivolta; R Chrast
Journal:  Mol Syndromol       Date:  2012-10-12

2.  PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

Authors:  Hamid Azzedine; Petra Zavadakova; Violaine Planté-Bordeneuve; Maria Vaz Pato; Nuno Pinto; Luca Bartesaghi; Jennifer Zenker; Olivier Poirot; Nathalie Bernard-Marissal; Estelle Arnaud Gouttenoire; Romain Cartoni; Alexandra Title; Giulia Venturini; Jean-Jacques Médard; Edward Makowski; Ludger Schöls; Kristl G Claeys; Claudia Stendel; Andreas Roos; Joachim Weis; Odile Dubourg; José Leal Loureiro; Giovanni Stevanin; Gérard Said; Anthony Amato; Jay Baraban; Eric LeGuern; Jan Senderek; Carlo Rivolta; Roman Chrast
Journal:  Hum Mol Genet       Date:  2013-06-17       Impact factor: 6.150

Review 3.  Inherited peripheral neuropathies.

Authors:  Mario A Saporta; Michael E Shy
Journal:  Neurol Clin       Date:  2013-03-05       Impact factor: 3.806

4.  A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case.

Authors:  Naotoshi Iwahara; Shin Hisahara; Takashi Hayashi; Jun Kawamata; Shun Shimohama
Journal:  BMC Neurol       Date:  2015-02-20       Impact factor: 2.474
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.