Literature DB >> 14685682

The causes of Charcot-Marie-Tooth disease.

P Young1, U Suter.   

Abstract

Charcot-Marie-Tooth (CMT) disease serves as the summary term for the most frequent forms of inherited peripheral neuropathies that affect motor and sensory nerves. In the last 12 years, 14 genes have been identified that cause different CMT subforms. The genes found initially are predominantly responsible for demyelinating and dysmyelinating neuropathies. Genes affected in axonal and rare forms of CMT have only recently been identified. In this review, we will focus on the currently known genes that are associated with CMT syndromes with regards to their genetics and function.

Entities:  

Mesh:

Substances:

Year:  2003        PMID: 14685682     DOI: 10.1007/s00018-003-3133-5

Source DB:  PubMed          Journal:  Cell Mol Life Sci        ISSN: 1420-682X            Impact factor:   9.261


  71 in total

1.  BioSTAR Evaluation STudy (BEST): a prospective, multicenter, phase I clinical trial to evaluate the feasibility, efficacy, and safety of the BioSTAR bioabsorbable septal repair implant for the closure of atrial-level shunts.

Authors:  Michael J Mullen; David Hildick-Smith; Joseph V De Giovanni; Christopher Duke; W Stewart Hillis; W Lindsay Morrison; Christian Jux
Journal:  Circulation       Date:  2006-10-24       Impact factor: 29.690

2.  Stenting vs. balloon angioplasty for discrete unoperated coarctation of the aorta in adolescents and adults.

Authors:  Carlos A C Pedra; Valmir F Fontes; Cesar A Esteves; Carlo B Pilla; Sérgio L N Braga; Simone R F Pedra; M Virginia T Santana; M Aparecida P Silva; Tarcisio Almeida; J Eduardo M R Sousa
Journal:  Catheter Cardiovasc Interv       Date:  2005-04       Impact factor: 2.692

3.  Comparison of transcatheter closure of secundum atrial septal defect using the Amplatzer septal occluder associated with deficient versus sufficient rims.

Authors:  Zhong-Dong Du; Peter Koenig; Q-Ling Cao; David Waight; Mary Heitschmidt; Ziyad M Hijazi
Journal:  Am J Cardiol       Date:  2002-10-15       Impact factor: 2.778

4.  Transhepatic approach for catheter interventions in infants and children with congenital heart disease.

Authors:  M Emmel; N Sreeram; F Pillekamp; W Boehm; K Brockmeier
Journal:  Clin Res Cardiol       Date:  2006-04-03       Impact factor: 5.460

5.  Long-term outcome of transcatheter secundum-type atrial septal defect closure using Amplatzer septal occluders.

Authors:  Jozef Masura; Pavol Gavora; Tomaz Podnar
Journal:  J Am Coll Cardiol       Date:  2005-02-15       Impact factor: 24.094

6.  Radiofrequency-assisted balloon dilatation in patients with pulmonary valve atresia and an intact ventricular septum.

Authors:  E Rosenthal; S A Qureshi; K C Chan; R P Martin; D J Skehan; S C Jordan; M Tynan
Journal:  Br Heart J       Date:  1993-04

7.  Descending thoracic and abdominal aortic coarctation in the young: Surgical treatment after percutaneous approaches failure.

Authors:  Santi Trimarchi; Valerio S Tolva; Viviana Grassi; Alessandro Frigiola; Mario Carminati; Vincenzo Rampoldi
Journal:  J Vasc Surg       Date:  2008-04       Impact factor: 4.268

8.  Covered stents in patients with complex aortic coarctations.

Authors:  Gianfranco Butera; Luciane Piazza; Massimo Chessa; Diana Gabriella Negura; Luca Rosti; Raul Abella; Angelica Delogu; Claudia Condoluci; Andrea Magherini; Mario Carminati
Journal:  Am Heart J       Date:  2007-10       Impact factor: 4.749

9.  Use of the internal jugular vein approach in balloon dilatation angioplasty of pulmonary artery stenosis in children.

Authors:  H Senzaki; K Koike; T Isoda; A Ishizawa; T Hishi; M Yanagisawa
Journal:  Pediatr Cardiol       Date:  1996 Mar-Apr       Impact factor: 1.655

10.  Balloon angioplasty of native coarctation and comparison of patients younger and older than 3 months.

Authors:  Cheng-Liang Lee; Jeng-Feng Lin; Kai-Sheng Hsieh; Chu-Chung Lin; Ta-Cheng Huang
Journal:  Circ J       Date:  2007-11       Impact factor: 2.993

View more
  12 in total

1.  Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.

Authors:  Tesshu Otagiri; Kenji Sugai; Kazuki Kijima; Hiroko Arai; Yukio Sawaishi; Mitsuteru Shimohata; Kiyoshi Hayasaka
Journal:  J Hum Genet       Date:  2006-06-13       Impact factor: 3.172

Review 2.  Role of immune cells in animal models for inherited peripheral neuropathies.

Authors:  Chi Wang Ip; Antje Kroner; Stefan Fischer; Martin Berghoff; Igor Kobsar; Mathias Mäurer; Rudolf Martini
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 3.  [The role of the immune system in hereditary demyelinating neuropathies].

Authors:  M Mäurer; K V Toyka; R Martini
Journal:  Nervenarzt       Date:  2005-06       Impact factor: 1.214

Review 4.  Gap junction communication in myelinating glia.

Authors:  Anna Nualart-Marti; Carles Solsona; R Douglas Fields
Journal:  Biochim Biophys Acta       Date:  2012-02-03

5.  Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

Authors:  Kazuki Kijima; Chikahiko Numakura; Emi Shirahata; Yukio Sawaishi; Mitsuteru Shimohata; Shuichi Igarashi; Tomohiro Tanaka; Kiyoshi Hayasaka
Journal:  J Hum Genet       Date:  2004-06-12       Impact factor: 3.172

6.  Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice.

Authors:  Jessica Nicks; Sooyeon Lee; Andrew Harris; Darin J Falk; Adrian G Todd; Karla Arredondo; William A Dunn; Lucia Notterpek
Journal:  Neurobiol Dis       Date:  2014-07-09       Impact factor: 5.996

7.  Rab7 mutants associated with Charcot-Marie-Tooth disease cause delayed growth factor receptor transport and altered endosomal and nuclear signaling.

Authors:  Soumik BasuRay; Sanchita Mukherjee; Elsa G Romero; Matthew N J Seaman; Angela Wandinger-Ness
Journal:  J Biol Chem       Date:  2012-11-27       Impact factor: 5.157

8.  Rab proteins and the secretory pathway: the case of rab18 in neuroendocrine cells.

Authors:  Rafael Vázquez-Martínez; Maria M Malagón
Journal:  Front Endocrinol (Lausanne)       Date:  2011-01-17       Impact factor: 5.555

9.  Functional and comparative genomics analyses of pmp22 in medaka fish.

Authors:  Junji Itou; Mikita Suyama; Yukio Imamura; Tomonori Deguchi; Kazuhiro Fujimori; Shunsuke Yuba; Yutaka Kawarabayasi; Takashi Kawasaki
Journal:  BMC Neurosci       Date:  2009-06-17       Impact factor: 3.288

10.  Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder.

Authors:  Annette E Rünker; Igor Kobsar; Torsten Fink; Gabriele Loers; Thomas Tilling; Peggy Putthoff; Carsten Wessig; Rudolf Martini; Melitta Schachner
Journal:  J Cell Biol       Date:  2004-05-17       Impact factor: 10.539

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.