Literature DB >> 16087932

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.

D Zhu1, M L Kennerson, G Walizada, S Züchner, J M Vance, G A Nicholson.   

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Year:  2005        PMID： 16087932     DOI： 10.1212/01.wnl.0000171345.62270.29

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  29 in total

Review 1.  Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.

Authors:  Kinga Szigeti; Eva Nelis; James R Lupski
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

2.  GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.

Authors:  Roberta Biancheri; Federico Zara; Pasquale Striano; Marina Pedemonte; Denise Cassandrini; Silvia Stringara; Fiore Manganelli; Lucio Santoro; Angelo Schenone; Emilia Bellone; Carlo Minetti
Journal:  J Neurol       Date:  2006-04-10       Impact factor: 4.849

3.  A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs.

Authors:  S Ajroud-Driss; F Fecto; K Ajroud; Y Yang; S Donkervoort; N Siddique; T Siddique
Journal:  Neurogenetics       Date:  2009-04-07       Impact factor: 2.660

4.  Cardiac-specific research platforms engender novel insights into mitochondrial dynamism.

Authors:  Gerald W Dorn
Journal:  Curr Opin Physiol       Date:  2018-03-26

5.  Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model.

Authors:  Yueqin Zhou; Sharon Carmona; A K M G Muhammad; Shaughn Bell; Jesse Landeros; Michael Vazquez; Ritchie Ho; Antonietta Franco; Bin Lu; Gerald W Dorn; Shaomei Wang; Cathleen M Lutz; Robert H Baloh
Journal:  J Clin Invest       Date:  2019-03-18       Impact factor: 14.808

6.  Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria.

Authors:  Christopher J Klein; Grace W Kimmel; Sean J Pittock; JaNean E Engelstad; Julie M Cunningham; Yanhong Wu; Peter J Dyck
Journal:  Arch Neurol       Date:  2011-10

7.  Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.

Authors:  Robert H Baloh; Robert E Schmidt; Alan Pestronk; Jeffrey Milbrandt
Journal:  J Neurosci       Date:  2007-01-10       Impact factor: 6.167

Review 8.  Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.

Authors:  D Pareyson; V Scaioli; M Laurà
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

9.  MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

Authors:  Obaid M Albulym; Marina L Kennerson; Matthew B Harms; Alexander P Drew; Anna H Siddell; Michaela Auer-Grumbach; Alan Pestronk; Anne Connolly; Robert H Baloh; Stephan Zuchner; Stephen W Reddel; Garth A Nicholson
Journal:  Ann Neurol       Date:  2016-01-13       Impact factor: 10.422

10.  MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

Authors:  Geir J Braathen; Jette C Sand; Ana Lobato; Helle Høyer; Michael B Russell
Journal:  BMC Med Genet       Date:  2010-03-29       Impact factor: 2.103
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