Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis

Angelika F. Hahn; Peter J. Ainsworth; Charles F. Bolton; Juan M. Bilbao; Jean-Michel Vallat

doi:10.1007/s004010000275

Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis

Acta Neuropathologica ◽

10.1007/s004010000275 ◽

2001 ◽

Vol 101 (2) ◽

pp. 129-139 ◽

Cited By ~ 66

Author(s):

Angelika F. Hahn ◽

Peter J. Ainsworth ◽

Charles F. Bolton ◽

Juan M. Bilbao ◽

Jean-Michel Vallat

Keyword(s):

Ultrastructural Analysis ◽

Pathological Findings ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Tooth Disease

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Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons

Journal of the Peripheral Nervous System ◽

10.1111/jns.12106 ◽

2015 ◽

Vol 20 (1) ◽

pp. 52-59 ◽

Cited By ~ 17

Author(s):

Andreas Roos ◽

Joachim Weis ◽

Rudolf Korinthenberg ◽

Henry Fehrenbach ◽

Martin Häusler ◽

...

Keyword(s):

Schwann Cells ◽

Pathological Findings ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Mutational Spectrum ◽

Disease Extension ◽

Tooth Disease

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Clinical, electrophysiological and pathological findings in a patient with Charcot–Marie–Tooth disease 4D caused by the NDRG1 Lom mutation

Journal of the Neurological Sciences ◽

10.1016/j.jns.2014.07.042 ◽

2014 ◽

Vol 345 (1-2) ◽

pp. 271-273 ◽

Cited By ~ 4

Author(s):

Marco Luigetti ◽

Franco Taroni ◽

Micaela Milani ◽

Alessandra Del Grande ◽

Angela Romano ◽

...

Keyword(s):

Pathological Findings ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Tooth Disease

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Novel therapeutic strategies and towards a disease severity marker in a model of Charcot-Marie-Tooth disease 1A (CMT1A)

Aktuelle Neurologie ◽

10.1055/s-2005-919616 ◽

2005 ◽

Vol 32 (S 4) ◽

Author(s):

G Meyer zu Hörste ◽

T Prukop ◽

M.W Sereda ◽

K.A Nave

Keyword(s):

Disease Severity ◽

Therapeutic Strategies ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Novel Therapeutic Strategies ◽

Novel Therapeutic ◽

Tooth Disease

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AUTOSOMAL RECESSIVE AND X-LINKED FORMS OF CHARCOT-MARIE-TOOTH DISEASE IN CHILDHOOD

Neuropediatrics ◽

10.1055/s-2006-945552 ◽

2006 ◽

Vol 37 (S 1) ◽

Author(s):

R Ouvrier

Keyword(s):

Autosomal Recessive ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Tooth Disease

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Ascorbic acid in pediatric and adolescent Charcot- Marie- Tooth Disease 1A – A placebo-controlled, double-blind trial in progress

Neuropediatrics ◽

10.1055/s-2008-1079579 ◽

2008 ◽

Vol 39 (01) ◽

Author(s):

O Schwartz ◽

B Fiedler ◽

M Schilling ◽

P Young ◽

G Kuhlenbäumer ◽

...

Keyword(s):

Ascorbic Acid ◽

Double Blind Trial ◽

Double Blind ◽

Charcot Marie Tooth ◽

Blind Trial ◽

Charcot Marie Tooth Disease ◽

Tooth Disease

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Faculty Opinions recommendation of Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A).

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1020501.232620 ◽

2004 ◽

Author(s):

Brian Popko

Keyword(s):

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Therapeutic Administration ◽

Progesterone Antagonist ◽

Tooth Disease

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Faculty of 1000 evaluation for Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

F1000 - Post-publication peer review of the biomedical literature ◽

10.3410/f.1023980.285818 ◽

2005 ◽

Author(s):

Brian Popko

Keyword(s):

Pleckstrin Homology Domain ◽

Pleckstrin Homology ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Dynamin 2 ◽

Tooth Disease

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Faculty Opinions recommendation of Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.11064957.12018055 ◽

2011 ◽

Author(s):

Davide Pareyson ◽

Chiara Marchesi

Keyword(s):

Disease Type ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Tooth Disease

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Faculty Opinions recommendation of Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1160853.622273 ◽

2009 ◽

Author(s):

Davide Pareyson ◽

Chiara Marchesi

Keyword(s):

Ascorbic Acid ◽

Disease Type ◽

Efficacy Trial ◽

Double Blind ◽

Safety And Efficacy ◽

Double Blind Placebo ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Tooth Disease

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Faculty Opinions recommendation of A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.3016965.2696063 ◽

2010 ◽

Author(s):

Robert Burgess

Keyword(s):

Trna Synthetase ◽

Major Determinant ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Tooth Disease

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