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Animal Models of CMT2A: State-of-art and Therapeutic Implications.
De Gioia R, Citterio G, Abati E, Nizzardo M, Bresolin N, Comi GP, Corti S, Rizzo F. De Gioia R, et al. Mol Neurobiol. 2020 Dec;57(12):5121-5129. doi: 10.1007/s12035-020-02081-3. Epub 2020 Aug 27. Mol Neurobiol. 2020. PMID: 32856204 Free PMC article. Review.
Charcot-Marie-Tooth disease type 2A (CMT2A), arising from mitofusin 2 (MFN2) gene mutations, is the most common inherited axonal neuropathy affecting motor and sensory neurons. The cellular and molecular mechanisms by which MFN2 mutations determine neuronal degeneration ar …
Charcot-Marie-Tooth disease type 2A (CMT2A), arising from mitofusin 2 (MFN2) gene mutations, is the most common inherited axonal neur …
Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art.
Barbullushi K, Abati E, Rizzo F, Bresolin N, Comi GP, Corti S. Barbullushi K, et al. Mol Neurobiol. 2019 Sep;56(9):6460-6471. doi: 10.1007/s12035-019-1533-2. Epub 2019 Mar 4. Mol Neurobiol. 2019. PMID: 30830587 Review.
Mutations in MFN2 are associated with Charcot-Marie-Tooth disease type 2A (CMT2A), a neurological disorder characterized by a wide spectrum of clinical features, primarily a motor sensory neuropathy. ...Here, we present the most recent in vitro and in vivo models of CMT
Mutations in MFN2 are associated with Charcot-Marie-Tooth disease type 2A (CMT2A), a neurological disorder characterized by a wide sp …
Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A.
Franco A, Dang X, Walton EK, Ho JN, Zablocka B, Ly C, Miller TM, Baloh RH, Shy ME, Yoo AS, Dorn GW 2nd. Franco A, et al. Elife. 2020 Oct 19;9:e61119. doi: 10.7554/eLife.61119. Elife. 2020. PMID: 33074106 Free PMC article.
Charcot-Marie-Tooth disease type 2A (CMT2A) is an untreatable childhood peripheral neuropathy caused by mutations of the mitochondrial fusion protein, mitofusin (MFN) 2. ...Franco, Dang et al. then tested the drug in the mice with a CMT2A mutation and found that it …
Charcot-Marie-Tooth disease type 2A (CMT2A) is an untreatable childhood peripheral neuropathy caused by mutations of the mitochondria …
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Pipis M, et al. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 Free PMC article.
In this large multicentre prospective cohort study of 196 patients with dominant and autosomal recessive CMT2A, we present an in-depth genotype-phenotype study of the baseline characteristics of patients with CMT2A and longitudinal data (1-2 years) to describe the n …
In this large multicentre prospective cohort study of 196 patients with dominant and autosomal recessive CMT2A, we present an in-dept …
CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity.
Guerriero S, D'Oria F, Rossetti G, Favale RA, Zoccolella S, Alessio G, Petruzzella V. Guerriero S, et al. Int Med Case Rep J. 2020 Feb 20;13:41-45. doi: 10.2147/IMCRJ.S237620. eCollection 2020. Int Med Case Rep J. 2020. PMID: 32110117 Free PMC article.
Mutations in mitofusin-2 (MFN2) cause CMT type 2A by altering mitochondrial fusion and trafficking along with the axonal microtubule system. In literature patients presenting with CMT2A are reported as having a subacute onset of optic atrophy associated with central scotom …
Mutations in mitofusin-2 (MFN2) cause CMT type 2A by altering mitochondrial fusion and trafficking along with the axonal microtubule system. …
HDAC6 inhibition promotes α-tubulin acetylation and ameliorates CMT2A peripheral neuropathy in mice.
Picci C, Wong VSC, Costa CJ, McKinnon MC, Goldberg DC, Swift M, Alam NM, Prusky GT, Shen S, Kozikowski AP, Willis DE, Langley B. Picci C, et al. Exp Neurol. 2020 Jun;328:113281. doi: 10.1016/j.expneurol.2020.113281. Epub 2020 Mar 5. Exp Neurol. 2020. PMID: 32147437
Charcot-Marie-Tooth type 2A (CMT2A) peripheral neuropathy, the most common axonal form of CMT, is caused by dominantly inherited point mutations in the Mitofusin 2 (Mfn2) gene. ...Our findings suggest alpha-tubulin acetylation defects in distal parts of nerves as a pathoge …
Charcot-Marie-Tooth type 2A (CMT2A) peripheral neuropathy, the most common axonal form of CMT, is caused by dominantly inherited poin …
CMT2A: the name doesn't tell the whole story.
Scherer SS. Scherer SS. Neurology. 2011 May 17;76(20):1686-7. doi: 10.1212/WNL.0b013e31821bcc42. Epub 2011 Apr 20. Neurology. 2011. PMID: 21508332 No abstract available.
Aberrant Mitochondrial Dynamics and Exacerbated Response to Neuroinflammation in a Novel Mouse Model of CMT2A.
Stavropoulos F, Sargiannidou I, Potamiti L, Kagiava A, Panayiotidis MI, Bae JH, Yeom SC, Lee JY, Kleopa KA. Stavropoulos F, et al. Int J Mol Sci. 2021 Oct 26;22(21):11569. doi: 10.3390/ijms222111569. Int J Mol Sci. 2021. PMID: 34769001 Free PMC article.
Charcot-Marie-Tooth disease type 2A (CMT2A) is the most common hereditary axonal neuropathy caused by mutations in MFN2 encoding Mitofusin-2, a multifunctional protein located in the outer mitochondrial membrane. ...Overall, ubiquitous Mfn2(K357T) expression renders the CN …
Charcot-Marie-Tooth disease type 2A (CMT2A) is the most common hereditary axonal neuropathy caused by mutations in MFN2 encoding Mito …
Mitochondrial hyperfusion causes neuropathy in a fly model of CMT2A.
Ueda E, Ishihara N. Ueda E, et al. EMBO Rep. 2018 Aug;19(8):e46502. doi: 10.15252/embr.201846502. Epub 2018 Jul 20. EMBO Rep. 2018. PMID: 30030216 Free PMC article.
A disruption of these processes can cause severe neurodegeneration. Charcot-Marie-Tooth disease type 2A (CMT2A) is a neuropathy that is caused by mutations in the fusion factor Mfn2. It is generally assumed that impaired mitochondrial fusion causes CMT2A. However, t …
A disruption of these processes can cause severe neurodegeneration. Charcot-Marie-Tooth disease type 2A (CMT2A) is a neuropathy that …
168 results