A review and analysis of the clinical literature on Charcot‐Marie‐Tooth disease caused by mutations in neurofilament protein L

Cytoskeleton ◽

10.1002/cm.21676 ◽

2021 ◽

Author(s):

Elizabeth J. Stone ◽

Stephen J. Kolb ◽

Anthony Brown

Keyword(s):

Protein L ◽

Neurofilament Protein ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Clinical Literature ◽

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Normal role of the low‐molecular‐weight neurofilament protein in mitochondrial dynamics and disruption in Charcot‐Marie‐Tooth disease

The FASEB Journal ◽

10.1096/fj.11-196345 ◽

2011 ◽

Vol 26 (3) ◽

pp. 1194-1203 ◽

Author(s):

Benoit J. Gentil ◽

Sandra Minotti ◽

Madeleine Beange ◽

Robert H. Baloh ◽

Jean‐Pierre Julien ◽

...

Keyword(s):

Molecular Weight ◽

Mitochondrial Dynamics ◽

Low Molecular Weight ◽

Neurofilament Protein ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

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Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot–Marie–Tooth disease-linked mutations in NFL and HSPB1

Human Molecular Genetics ◽

10.1093/hmg/ddm272 ◽

2007 ◽

Vol 16 (24) ◽

pp. 3103-3116 ◽

Author(s):

Jinbin Zhai ◽

Hong Lin ◽

Jean-Pierre Julien ◽

William W. Schlaepfer

Keyword(s):

Motor Neuron ◽

Protein A ◽

Motor Neuron Degeneration ◽

Neurofilament Protein ◽

Common Pathway ◽

Neuron Degeneration ◽

Charcot Marie Tooth ◽

Charcot Marie 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 ◽

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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 ◽

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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 ◽

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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 ◽

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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 ◽

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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 ◽

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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 ◽

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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 ◽

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