Literature DB >> 17430873

Sorting out the inherited neuropathies.

Mary M Reilly1.   

Abstract

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Year:  2007        PMID: 17430873

Source DB:  PubMed          Journal:  Pract Neurol        ISSN: 1474-7758


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  19 in total

1.  Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

Authors:  Heather M McLaughlin; Reiko Sakaguchi; Cuiping Liu; Takao Igarashi; Davut Pehlivan; Kristine Chu; Ram Iyer; Pedro Cruz; Praveen F Cherukuri; Nancy F Hansen; James C Mullikin; Leslie G Biesecker; Thomas E Wilson; Victor Ionasescu; Garth Nicholson; Charles Searby; Kevin Talbot; Jeffrey M Vance; Stephan Züchner; Kinga Szigeti; James R Lupski; Ya-Ming Hou; Eric D Green; Anthony Antonellis
Journal:  Am J Hum Genet       Date:  2010-10-08       Impact factor: 11.025

2.  Natural history of Charcot-Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life.

Authors:  Luca Padua; D Pareyson; I Aprile; T Cavallaro; D A Quattrone; N Rizzuto; G Vita; P Tonali; A Schenone
Journal:  Neurol Sci       Date:  2009-12-17       Impact factor: 3.307

3.  Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients.

Authors:  Mitra Tavakoli; Andy Marshall; Siddharth Banka; Ioannis N Petropoulos; Hassan Fadavi; Helen Kingston; Rayaz A Malik
Journal:  Muscle Nerve       Date:  2012-09-19       Impact factor: 3.217

Review 4.  Intermediate Charcot-Marie-Tooth disease.

Authors:  Lei Liu; Ruxu Zhang
Journal:  Neurosci Bull       Date:  2014-10-17       Impact factor: 5.203

Review 5.  Not all neuropathy in diabetes is of diabetic etiology: differential diagnosis of diabetic neuropathy.

Authors:  Roy Freeman
Journal:  Curr Diab Rep       Date:  2009-12       Impact factor: 4.810

6.  Classification and diagnosis of the inherited neuropathies.

Authors:  Mary M Reilly
Journal:  Ann Indian Acad Neurol       Date:  2009-04       Impact factor: 1.383

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

Review 8.  Charcot-Marie-Tooth disease and intracellular traffic.

Authors:  Cecilia Bucci; Oddmund Bakke; Cinzia Progida
Journal:  Prog Neurobiol       Date:  2012-03-22       Impact factor: 11.685

9.  Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.

Authors:  Rhys C Roberts; Andrew A Peden; Folma Buss; Nicholas A Bright; Morwena Latouche; Mary M Reilly; John Kendrick-Jones; J Paul Luzio
Journal:  Hum Mol Genet       Date:  2009-12-22       Impact factor: 6.150

10.  Inherited neuropathies.

Authors:  Angelo Schenone; Lucilla Nobbio; Margherita Monti Bragadin; Giulia Ursino; Marina Grandis
Journal:  Curr Treat Options Neurol       Date:  2011-04       Impact factor: 3.598

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