Axonal Charcot–Marie–Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties

Experimental Neurology ◽

10.1016/j.expneurol.2014.10.005 ◽

2015 ◽

Vol 263 ◽

pp. 190-199 ◽

Author(s):

Mario A. Saporta ◽

Vu Dang ◽

Dmitri Volfson ◽

Bende Zou ◽

Xinmin (Simon) Xie ◽

...

Keyword(s):

Motor Neurons ◽

Disease Patient ◽

Charcot Marie Tooth ◽

Electrophysiological Properties ◽

Charcot Marie Tooth Disease ◽

Disease Specific ◽

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Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B)

Stem Cell Research ◽

10.1016/j.scr.2017.08.002 ◽

2017 ◽

Vol 24 ◽

pp. 5-7 ◽

Author(s):

Daryeon Son ◽

Phil Jun Kang ◽

Wonjin Yun ◽

Seungkwon You

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Disease Patient ◽

Induced Pluripotent Stem Cell ◽

Ipsc Line ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Induced Pluripotent ◽

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Charcot-Marie-tooth disease patient registry (CMTPR) in Japan

Journal of the Neurological Sciences ◽

10.1016/j.jns.2017.08.2384 ◽

2017 ◽

Vol 381 ◽

pp. 846-847

Author(s):

M. Nakagawa ◽

Y. Tsuji ◽

Y.I. Noto ◽

K. Shiga ◽

T. Mizuno

Keyword(s):

Disease Patient ◽

Patient Registry ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

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Successful Treatment of Amyloid Light-chain Amyloidosis in a Charcot-Marie-Tooth Disease Patient with Lenalidomide, Cyclophosphamide, and Dexamethasone

Internal Medicine ◽

10.2169/internalmedicine.55.5815 ◽

2016 ◽

Vol 55 (18) ◽

pp. 2707-2712

Author(s):

Yoshitaka Kikukawa ◽

Hiroyuki Hata ◽

Mitsuharu Ueda ◽

Taro Yamashita ◽

Singo Nasu ◽

...

Keyword(s):

Successful Treatment ◽

Light Chain ◽

Disease Patient ◽

Charcot Marie Tooth ◽

Light Chain Amyloidosis ◽

Charcot Marie Tooth Disease ◽

Amyloid Light Chain ◽

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Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX)

Stem Cell Research ◽

10.1016/j.scr.2017.03.006 ◽

2017 ◽

Vol 21 ◽

pp. 9-12 ◽

Author(s):

Daryeon Son ◽

Phil Jun Kang ◽

Wonjin Yun ◽

Seungkwon You

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Disease Patient ◽

Induced Pluripotent Stem Cell ◽

Ipsc Line ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Induced Pluripotent ◽

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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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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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