Literature DB >> 24844793

A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease.

Marco Luigetti1, Gian Maria Fabrizi, Federica Taioli, Alessandra Del Grande, Mauro Lo Monaco.   

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Year:  2014        PMID： 24844793     DOI： 10.1007/s10072-014-1833-2

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  5 in total

1.  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

2.  GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment.

Authors:  A W Michell; M Laura; J Blake; M P Lunn; A Cox; V S Gibbons; M B Davis; N W Wood; H Manji; H Houlden; N M F Murray; M M Reilly
Journal:  J Neurol Neurosurg Psychiatry       Date:  2009-06       Impact factor: 10.154

3.  Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.

Authors:  Kristien Verhoeven; Peter De Jonghe; Tom Van de Putte; Eva Nelis; An Zwijsen; Nathalie Verpoorten; Els De Vriendt; An Jacobs; Veerle Van Gerwen; Annick Francis; Chantal Ceuterick; Danny Huylebroeck; Vincent Timmerman
Journal:  Am J Hum Genet       Date:  2003-08-19       Impact factor: 11.025

4.  Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF.

Authors:  Wanda Maria Gerding; Judith Koetting; Jörg Thomas Epplen; Clemens Neusch
Journal:  Neuromuscul Disord       Date:  2009-06-21       Impact factor: 4.296

5.  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
  5 in total
  2 in total

1.  Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.

Authors:  Nivedita U Jerath; Michael E Shy
Journal:  Muscle Nerve       Date:  2017-04-29       Impact factor: 3.217

2.  Case Report: Early-Onset Charcot-Marie-Tooth 2N With Reversible White Matter Lesions Repeatedly Mimicked Stroke or Encephalitis.

Authors:  Huasheng Huang; Yu Zhang; Mingxiu Yang; Baorong Lian; Rui Guo; Liming Cao
Journal:  Front Pediatr       Date:  2022-07-13       Impact factor: 3.569
  2 in total

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