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Unraveling the etiology of myelin disorders: the P2 case in Charcot–Marie–Tooth disease
FEBS Journal
◽
10.1111/febs.16131
◽
2021
◽
Author(s):
Julio Pusterla
◽
Guillermo G. Montich
◽
Rafael G. Oliveira
Keyword(s):
Charcot Marie Tooth
◽
Charcot Marie Tooth Disease
◽
Myelin Disorders
◽
Tooth Disease
Download Full-text
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Cited By
References
Charcot-Marie-Tooth Disease and Related Inherited Myelin Disorders: Molecular Genetics and Implications for Gene Therapy
ILAR Journal
◽
10.1093/ilar.36.3-4.64
◽
1994
◽
Vol 36
(3-4)
◽
pp. 64-72
◽
Cited By ~ 1
Author(s):
B. B. Roa
◽
J. R. Lupski
Keyword(s):
Gene Therapy
◽
Molecular Genetics
◽
Charcot Marie Tooth
◽
Charcot Marie Tooth Disease
◽
Myelin Disorders
◽
Tooth Disease
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
Download Full-text
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
◽
Cited By ~ 16
Author(s):
D. Pareyson
◽
P. Saveri
◽
G. Piscosquito
Keyword(s):
Gene Function
◽
Charcot Marie Tooth
◽
Charcot Marie Tooth Disease
◽
Hereditary Neuropathies
◽
Tooth Disease
Download Full-text
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