INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis

Kentaro Toyota; Daisuke Ogino; Makiko Hayashi; Masashi Taki; Kayoko Saito; Akiko Abe; Taeko Hashimoto; Kazuo Umetsu; Hiroyasu Tsukaguchi; Kiyoshi Hayasaka

doi:10.1111/jns5.12014

INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis

Journal of the Peripheral Nervous System ◽

10.1111/jns5.12014 ◽

2013 ◽

Vol 18 (1) ◽

pp. 97-98 ◽

Cited By ~ 14

Author(s):

Kentaro Toyota ◽

Daisuke Ogino ◽

Makiko Hayashi ◽

Masashi Taki ◽

Kayoko Saito ◽

...

Keyword(s):

Focal Segmental Glomerulosclerosis ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Segmental Glomerulosclerosis ◽

Tooth Disease

Download Full-text

A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis

Journal of the Peripheral Nervous System ◽

10.1111/jns5.12062 ◽

2014 ◽

Vol 19 (2) ◽

pp. 175-179 ◽

Cited By ~ 9

Author(s):

Hyung J. Park ◽

Hye J. Kim ◽

Young B. Hong ◽

Soo H. Nam ◽

Ki W. Chung ◽

...

Keyword(s):

Focal Segmental Glomerulosclerosis ◽

Autosomal Dominant ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Korean Family ◽

Segmental Glomerulosclerosis ◽

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