Literature DB >> 16775379

Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.

Kinga Szigeti1, Eva Nelis, James R Lupski.   

Abstract

DNA diagnostics plays an important role in the characterization and management of patients manifesting inherited peripheral neuropathies. We describe the clinical integration of molecular diagnostics with medical history, physical examination, and electrophysiological studies. Molecular testing can help establish a secure diagnosis, enable genetic counseling regarding recurrence risk, potentially provide prognostic information, and in the near future may be important for the choice of therapies.

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Year:  2006        PMID： 16775379     DOI： 10.1385/nmm:8:1-2:243

Source DB:  PubMed          Journal:  Neuromolecular Med        ISSN： 1535-1084            Impact factor:   3.843


  71 in total

1.  N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.

Authors:  L Kalaydjieva; D Gresham; R Gooding; L Heather; F Baas; R de Jonge; K Blechschmidt; D Angelicheva; D Chandler; P Worsley; A Rosenthal; R H King; P K Thomas
Journal:  Am J Hum Genet       Date:  2000-05-30       Impact factor: 11.025

2.  Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Authors:  Stephan Züchner; Irina V Mersiyanova; Maria Muglia; Nisrine Bissar-Tadmouri; Julie Rochelle; Elena L Dadali; Mario Zappia; Eva Nelis; Alessandra Patitucci; Jan Senderek; Yesim Parman; Oleg Evgrafov; Peter De Jonghe; Yuji Takahashi; Shoij Tsuji; Margaret A Pericak-Vance; Aldo Quattrone; Esra Battaloglu; Alexander V Polyakov; Vincent Timmerman; J Michael Schröder; Jeffery M Vance; Esra Battologlu
Journal:  Nat Genet       Date:  2004-04-04       Impact factor: 38.330

Review 3.  DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies.

Authors:  J R Lupski
Journal:  Clin Chem       Date:  1996-07       Impact factor: 8.327

4.  A comparison of methods for gene dosage analysis in HMSN type 1.

Authors:  J S Rowland; D E Barton; G R Taylor
Journal:  J Med Genet       Date:  2001-02       Impact factor: 6.318

Review 5.  Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

Authors:  Naoki Hattori; Masahiko Yamamoto; Tsuyoshi Yoshihara; Haruki Koike; Masanori Nakagawa; Hiroo Yoshikawa; Akio Ohnishi; Kiyoshi Hayasaka; Osamu Onodera; Masayuki Baba; Hitoshi Yasuda; Toyokazu Saito; Kenji Nakashima; Jun-ichi Kira; Ryuji Kaji; Nobuyuki Oka; Gen Sobue
Journal:  Brain       Date:  2003-01       Impact factor: 13.501

6.  Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)

Authors:  T Stojkovic; P Latour; A Vandenberghe; J F Hurtevent; P Vermersch
Journal:  Neurology       Date:  1999-03-23       Impact factor: 9.910

7.  X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

Authors:  J Senderek; B Hermanns; C Bergmann; B Boroojerdi; M Bajbouj; M Hungs; V T Ramaekers; S Quasthoff; D Karch; J M Schröder
Journal:  J Neurol Sci       Date:  1999-08-15       Impact factor: 3.181

Review 8.  The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.

Authors:  Cornelius F Boerkoel; Hiroshi Takashima; James R Lupski
Journal:  Curr Neurol Neurosci Rep       Date:  2002-01       Impact factor: 5.081

9.  Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies.

Authors:  Jong Rak Choi; Woon Hyoung Lee; Il Nam Sunwoo; Eun Kyung Lee; Chang Hoon Lee; Jong Baeck Lim
Journal:  Yonsei Med J       Date:  2005-06-30       Impact factor: 2.759

10.  Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation.

Authors:  L Leonardis; J Zidar; A Ekici; B Peterlin; B Rautenstrauss
Journal:  Int J Mol Med       Date:  1998-02       Impact factor: 4.101
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  6 in total

1.  Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

Authors:  Gabriel Miltenberger-Miltenyi; Thomas Schwarzbraun; Wolfgang N Löscher; Julia Wanschitz; Christian Windpassinger; Hans-Christoph Duba; Rainer Seidl; Gerhard Albrecht; Helga Weirich-Schwaiger; Heinz Zoller; Gerd Utermann; Michaela Auer-Grumbach; Andreas R Janecke
Journal:  Eur J Hum Genet       Date:  2009-03-04       Impact factor: 4.246

2.  Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP).

Authors:  D Kabzinska; J Pierscinska; A Kochanski
Journal:  J Appl Genet       Date:  2009       Impact factor: 2.653

3.  Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.

Authors:  Duane L Guernsey; Haiyan Jiang; Karen Bedard; Susan C Evans; Meghan Ferguson; Makoto Matsuoka; Christine Macgillivray; Mathew Nightingale; Scott Perry; Andrea L Rideout; Andrew Orr; Mark Ludman; David L Skidmore; Timothy Benstead; Mark E Samuels
Journal:  PLoS Genet       Date:  2010-08-26       Impact factor: 5.917

4.  Saturation of the human phenome.

Authors:  Mark E Samuels
Journal:  Curr Genomics       Date:  2010-11       Impact factor: 2.236

5.  GlcNAc6ST-1 regulates sulfation of N-glycans and myelination in the peripheral nervous system.

Authors:  Takeshi Yoshimura; Akiko Hayashi; Mai Handa-Narumi; Hirokazu Yagi; Nobuhiko Ohno; Takako Koike; Yoshihide Yamaguchi; Kenji Uchimura; Kenji Kadomatsu; Jan Sedzik; Kunio Kitamura; Koichi Kato; Bruce D Trapp; Hiroko Baba; Kazuhiro Ikenaka
Journal:  Sci Rep       Date:  2017-02-10       Impact factor: 4.379

6.  Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements.

Authors:  Ah J Lee; Da E Nam; Yu J Choi; Seung W Noh; Soo H Nam; Hye J Lee; Seung J Kim; Gyun J Song; Byung-Ok Choi; Ki W Chung
Journal:  Mol Genet Genomic Med       Date:  2020-07-09       Impact factor: 2.183
  6 in total

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