Literature DB >> 21984771

Charcot-Marie-Tooth disease in Northern England.

Charlotte Foley, Ian Schofield, Gail Eglon, Geraldine Bailey, Patrick F Chinnery, Rita Horvath.   

Abstract

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Year:  2011        PMID： 21984771     DOI： 10.1136/jnnp-2011-300285

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  20 in total

1.  Restless leg syndrome in different types of demyelinating neuropathies: a single-center pilot study.

Authors:  Marco Luigetti; Alessandra Del Grande; Elisa Testani; Giulia Bisogni; Anna Losurdo; Nadia Mariagrazia Giannantoni; Salvatore Mazza; Mario Sabatelli; Giacomo Della Marca
Journal:  J Clin Sleep Med       Date:  2013-09-15       Impact factor: 4.062

2.  Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Authors:  Rafael Sivera; Teresa Sevilla; Juan Jesús Vílchez; Dolores Martínez-Rubio; María José Chumillas; Juan Francisco Vázquez; Nuria Muelas; Luis Bataller; José María Millán; Fancesc Palau; Carmen Espinós
Journal:  Neurology       Date:  2013-09-27       Impact factor: 9.910

3.  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

4.  Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.

Authors:  Sheng Deng; Shawna M E Feely; Yong Shi; Hong Zhai; Luna Zhan; Teepu Siddique; Han-Xiang Deng; Michael E Shy
Journal:  Neuromolecular Med       Date:  2019-08-29       Impact factor: 3.843

5.  Lessons from London.

Authors:  Michael E Shy
Journal:  J Neurol Neurosurg Psychiatry       Date:  2012-06-13       Impact factor: 10.154

Review 6.  Mutations in HspB1 and hereditary neuropathies.

Authors:  Lydia K Muranova; Maria V Sudnitsyna; Sergei V Strelkov; Nikolai B Gusev
Journal:  Cell Stress Chaperones       Date:  2020-04-16       Impact factor: 3.667

7.  Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.

Authors:  Sinead M Murphy; Matilde Laura; Katherine Fawcett; Amelie Pandraud; Yo-Tsen Liu; Gabrielle L Davidson; Alexander M Rossor; James M Polke; Victoria Castleman; Hadi Manji; Michael P T Lunn; Karen Bull; Gita Ramdharry; Mary Davis; Julian C Blake; Henry Houlden; Mary M Reilly
Journal:  J Neurol Neurosurg Psychiatry       Date:  2012-05-10       Impact factor: 10.154

8.  An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A.

Authors:  Shahram Attarian; Jean-Michel Vallat; Laurent Magy; Benoît Funalot; Pierre-Marie Gonnaud; Arnaud Lacour; Yann Péréon; Odile Dubourg; Jean Pouget; Joëlle Micallef; Jérôme Franques; Marie-Noëlle Lefebvre; Karima Ghorab; Mahmoud Al-Moussawi; Vincent Tiffreau; Marguerite Preudhomme; Armelle Magot; Laurène Leclair-Visonneau; Tanya Stojkovic; Laura Bossi; Philippe Lehert; Walter Gilbert; Viviane Bertrand; Jonas Mandel; Aude Milet; Rodolphe Hajj; Lamia Boudiaf; Catherine Scart-Grès; Serguei Nabirotchkin; Mickael Guedj; Ilya Chumakov; Daniel Cohen
Journal:  Orphanet J Rare Dis       Date:  2014-12-18       Impact factor: 4.123

Review 9.  Prevalence of neurogenetic disorders in the North of England.

Authors:  David Bargiela; Patrick Yu-Wai-Man; Michael Keogh; Rita Horvath; Patrick F Chinnery
Journal:  Neurology       Date:  2015-09-04       Impact factor: 9.910

Review 10.  PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

Authors:  Barbara W van Paassen; Anneke J van der Kooi; Karin Y van Spaendonck-Zwarts; Camiel Verhamme; Frank Baas; Marianne de Visser
Journal:  Orphanet J Rare Dis       Date:  2014-03-19       Impact factor: 4.123
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