Literature DB >> 22696588

Lessons from London.

Michael E Shy.   

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Year:  2012        PMID： 22696588      PMCID： PMC3721145          DOI： 10.1136/jnnp-2012-302858

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


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  8 in total

1.  Charcot-Marie-Tooth disease subtypes and genetic testing strategies.

Authors:  Anita S D Saporta; Stephanie L Sottile; Lindsey J Miller; Shawna M E Feely; Carly E Siskind; Michael E Shy
Journal:  Ann Neurol       Date:  2011-01       Impact factor: 10.422

2.  Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

Authors:  Kumaraswamy Sivakumar; Theodoros Kyriakides; Imke Puls; Garth A Nicholson; Benoît Funalot; Anthony Antonellis; Nyamkhishig Sambuughin; Kyproula Christodoulou; John L Beggs; Eleni Zamba-Papanicolaou; Victor Ionasescu; Marinos C Dalakas; Eric D Green; Kenneth H Fischbeck; Lev G Goldfarb
Journal:  Brain       Date:  2005-07-13       Impact factor: 13.501

3.  SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.

Authors:  Philippe Latour; Pierre-Marie Gonnaud; Elisabeth Ollagnon; Victor Chan; Serge Perelman; Tanya Stojkovic; Claude Stoll; Christophe Vial; François Ziegler; Antoon Vandenberghe; Irène Maire
Journal:  J Peripher Nerv Syst       Date:  2006-06       Impact factor: 3.494

4.  Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.

Authors:  Gladys Montenegro; Eric Powell; Jia Huang; Fiorella Speziani; Yvonne J K Edwards; Gary Beecham; William Hulme; Carly Siskind; Jeffery Vance; Michael Shy; Stephan Züchner
Journal:  Ann Neurol       Date:  2011-01-20       Impact factor: 10.422

Review 5.  Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.

Authors:  Stefano C Previtali; Angelo Quattrini; Alessandra Bolino
Journal:  Expert Rev Mol Med       Date:  2007-09-20       Impact factor: 5.600

6.  [Charcot-Marie-Tooth disease].

Authors:  Nazha Birouk
Journal:  Presse Med       Date:  2009-01-08       Impact factor: 1.228

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.  Charcot-Marie-Tooth disease in Northern England.

Authors:  Charlotte Foley; Ian Schofield; Gail Eglon; Geraldine Bailey; Patrick F Chinnery; Rita Horvath
Journal:  J Neurol Neurosurg Psychiatry       Date:  2011-10-08       Impact factor: 10.154
  8 in total
  1 in total

1.  Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy.

Authors:  Lori Sames; Allison Moore; Renee Arnold; Sean Ekins
Journal:  F1000Res       Date:  2014-04-03
  1 in total

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