Genotype and phenotype distribution of 435 patients with Charcot‐Marie‐Tooth disease from Central South China

European Journal of Neurology ◽

10.1111/ene.15024 ◽

2021 ◽

Author(s):

Yongzhi Xie ◽

Zhiqiang Lin ◽

Lei Liu ◽

Xiaobo Li ◽

Shunxiang Huang ◽

...

Keyword(s):

South China ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Phenotype Distribution ◽

Central South ◽

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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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Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes

Current Molecular Medicine ◽

10.2174/1566524014666141010154205 ◽

2014 ◽

Vol 14 (8) ◽

pp. 1009-1033 ◽

Author(s):

D. Pareyson ◽

P. Saveri ◽

G. Piscosquito

Keyword(s):

Gene Function ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Hereditary Neuropathies ◽

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MUTATIONS IN CONNEXIN 32: THE MOLECULAR AND BIOPHYSICAL BASES FOR THE X-LINKED FORM OF CHARCOT-MARIE-TOOTH DISEASE

Journal of the Peripheral Nervous System ◽

10.1046/j.1529-8027.2000.00022-41.x ◽

2000 ◽

Vol 5 (4) ◽

pp. 246-247

Author(s):

Ck Abrams ◽

S Oh ◽

Y Ri ◽

Ta Bargiello

Keyword(s):

Connexin 32 ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

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