Charcot-Marie-Tooth disease

Literature (6)

Literature for DOID 10595: Charcot-Marie-Tooth disease

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Severe neuropathy with leaky connexin32 hemichannels., Liang GS,de Miguel M,Gómez-Hernández JM,Glass JD,Scherer SS,Mintz M,Barrio LC,Fischbeck KH, Ann Neurol. May 1, 2005; 57(5):1531-8249.
Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32., Abrams CK,Freidin M,Bukauskas F,Dobrenis K,Bargiello TA,Verselis VK,Bennett MV,Chen L,Sahenk Z, J Neurosci. November 19, 2003; 23(33):1529-2401.
Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease., Abrams CK,Freidin MM,Verselis VK,Bennett MV,Bargiello TA, Dev Biol. May 4, 2001; 900(1):0012-1606.
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy., Park J,Flores BR,Scherer K,Kuepper H,Rossi M,Rupprich K,Rautenberg M,Deininger N,Weichselbaum A,Grimm A,Sturm M,Grasshoff U,Delpire E,Haack TB, J Med Genet. April 1, 2020; 57(4):1468-6244.
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease., Cinarli Yuksel F,Nicolaou P,Spontarelli K,Dohrn MF,Rebelo AP,Koutsou P,Georghiou A,Artigas P,Züchner SL,Kleopa KA,Christodoulou K, J Neurol. May 1, 2023; 270(5):1432-1459.
Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function., Spontarelli Fruit K,Olivera JF,Colmano N,Bird SJ,McCray BA,Yano ST,Scherer SS,Artigas P, Neurol Genet. October 30, 2025; 11(5):2376-7839.

Severe neuropathy with leaky connexin32 hemichannels., Liang GS,de Miguel M,Gómez-Hernández JM,Glass JD,Scherer SS,Mintz M,Barrio LC,Fischbeck KH, Ann Neurol. May 1, 2005; 57(5):1531-8249.

Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32., Abrams CK,Freidin M,Bukauskas F,Dobrenis K,Bargiello TA,Verselis VK,Bennett MV,Chen L,Sahenk Z, J Neurosci. November 19, 2003; 23(33):1529-2401.

Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease., Abrams CK,Freidin MM,Verselis VK,Bennett MV,Bargiello TA, Dev Biol. May 4, 2001; 900(1):0012-1606.

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy., Park J,Flores BR,Scherer K,Kuepper H,Rossi M,Rupprich K,Rautenberg M,Deininger N,Weichselbaum A,Grimm A,Sturm M,Grasshoff U,Delpire E,Haack TB, J Med Genet. April 1, 2020; 57(4):1468-6244.

The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease., Cinarli Yuksel F,Nicolaou P,Spontarelli K,Dohrn MF,Rebelo AP,Koutsou P,Georghiou A,Artigas P,Züchner SL,Kleopa KA,Christodoulou K, J Neurol. May 1, 2023; 270(5):1432-1459.

Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function., Spontarelli Fruit K,Olivera JF,Colmano N,Bird SJ,McCray BA,Yano ST,Scherer SS,Artigas P, Neurol Genet. October 30, 2025; 11(5):2376-7839.