Literature DB >> 22382358

Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.

Georgios Koutsis, Amelie Pandraud, James M Polke, Nicholas W Wood, Marios Panas, Georgia Karadima, Henry Houlden.   

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Year:  2012        PMID： 22382358      PMCID： PMC3407418          DOI： 10.1093/brain/aws034

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  16 in total

1.  Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene.

Authors:  V V Ionasescu; C C Searby; R Ionasescu; R Reisin; V Ruggieri; C Arberas
Journal:  Muscle Nerve       Date:  1997-10       Impact factor: 3.217

Review 2.  A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance.

Authors:  E Nagy; L E Maquat
Journal:  Trends Biochem Sci       Date:  1998-06       Impact factor: 13.807

3.  Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

Authors:  I V Mersiyanova; S M Ismailov; A V Polyakov; E L Dadali; V P Fedotov; E Nelis; A Löfgren; V Timmerman; C van Broeckhoven; O V Evgrafov
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

Review 4.  Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Authors:  Henry Houlden; Mary M Reilly
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

5.  Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.

Authors:  T Ikegami; H Ikeda; M Aoyama; T Matsuki; T Imota; Y Fukuuchi; T Amano; I Toyoshima; Y Ishihara; H Endoh; K Hayasaka
Journal:  Hum Genet       Date:  1998-03       Impact factor: 4.132

6.  Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.

Authors:  H-K Park; B J Kim; D H Sung; C-S Ki; J-W Kim
Journal:  Clin Genet       Date:  2006-09       Impact factor: 4.438

7.  Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.

Authors:  P P Lenssen; A A Gabreëls-Festen; L J Valentijn; P J Jongen; S E van Beersum; B G van Engelen; P J van Wensen; P A Bolhuis; F J Gabreëls; E C Mariman
Journal:  Brain       Date:  1998-08       Impact factor: 13.501

8.  Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

Authors:  Byung-Ok Choi; Mi Sun Lee; Sang Hee Shin; Jung Hee Hwang; Kyoung-Gyu Choi; Won-Ki Kim; Il Nam Sunwoo; Nam Keun Kim; Ki Wha Chung
Journal:  Hum Mutat       Date:  2004-08       Impact factor: 4.878

9.  Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

Authors:  K Silander; P Meretoja; V Juvonen; J Ignatius; H Pihko; A Saarinen; T Wallden; E Herrgård; P Aula; M L Savontaus
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

10.  Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

Authors:  Federica Taioli; Ilaria Cabrini; Tiziana Cavallaro; Michele Acler; Gian Maria Fabrizi
Journal:  Brain       Date:  2011-01-19       Impact factor: 13.501
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  4 in total

1.  Identification of Pax3 and Zic1 targets in the developing neural crest.

Authors:  Chang-Joon Bae; Byung-Yong Park; Young-Hoon Lee; John W Tobias; Chang-Soo Hong; Jean-Pierre Saint-Jeannet
Journal:  Dev Biol       Date:  2013-12-17       Impact factor: 3.582

Review 2.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046

3.  Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease.

Authors:  Xiaoxuan Liu; Xiaohui Duan; Yingshuang Zhang; Dongsheng Fan
Journal:  Front Neurol       Date:  2020-07-03       Impact factor: 4.003

4.  PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.

Authors:  Alice R Gardiner; Kailash P Bhatia; Maria Stamelou; Russell C Dale; Manju A Kurian; Susanne A Schneider; G M Wali; Tim Counihan; Anthony H Schapira; Sian D Spacey; Enza-Maria Valente; Laura Silveira-Moriyama; Hélio A G Teive; Salmo Raskin; Josemir W Sander; Andrew Lees; Tom Warner; Dimitri M Kullmann; Nicholas W Wood; Michael Hanna; Henry Houlden
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910
  4 in total

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