Charcot-Marie-Tooth Disease with Diaphragmatic Weakness.

Internal Medicine ◽

10.2169/internalmedicine.31.1267 ◽

1992 ◽

Vol 31 (11) ◽

pp. 1267-1270 ◽

Author(s):

Shinobu OSANAI ◽

Yuji AKIBA ◽

Hitoshi NAKANO ◽

Hiroyuki MATSUMOTO ◽

Osamu YAHARA ◽

...

Keyword(s):

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Diaphragmatic Weakness ◽

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An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness

Internal Medicine ◽

10.2169/internalmedicine.6487-20 ◽

2022 ◽

Author(s):

Yasuyoshi Kimura ◽

Akira Nishikawa ◽

Akihiro Hashiguchi ◽

Masaki Etoh ◽

Akiko Yoshimura ◽

...

Keyword(s):

Optic Nerve ◽

Neurogenic Bladder ◽

Bladder Dysfunction ◽

Disease Patient ◽

Neurogenic Bladder Dysfunction ◽

Optic Nerve Atrophy ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Diaphragmatic Weakness ◽

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Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case

Neuromuscular Disorders ◽

10.1016/j.nmd.2018.09.008 ◽

2018 ◽

Vol 28 (12) ◽

pp. 1016-1021 ◽

Author(s):

Richa Kulshrestha ◽

Natalie Forrester ◽

Thalia Antoniadi ◽

Tracey Willis ◽

Sethil Kumar Sethuraman ◽

...

Keyword(s):

Disease Type ◽

Atypical Case ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Diaphragmatic Weakness ◽

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Autosomal recessiveMFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.37611 ◽

2016 ◽

Vol 170 (6) ◽

pp. 1580-1584 ◽

Author(s):

Christopher A. Tan ◽

Marina Rabideau ◽

Amy Blevins ◽

Marjorie Jody Westbrook ◽

Tali Ekstein ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Diaphragmatic Weakness ◽

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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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