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Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.
Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E. Bombelli F, et al. JAMA Neurol. 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. JAMA Neurol. 2014. PMID: 24957169 Review.
IMPORTANCE: Axonal Charcot-Marie-Tooth disease (CMT) is genetically heterogeneous, with 11 genes identified. ...One patient carried a rare variant in the GDAP1 gene and another in the OPA1 gene in association with MFN2 mutation. CONCLUSIONS AND …
IMPORTANCE: Axonal Charcot-Marie-Tooth disease (CMT) is genetically heterogeneous, with 11 genes identifi …
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
Cassereau J, Chevrollier A, Gueguen N, Desquiret V, Verny C, Nicolas G, Dubas F, Amati-Bonneau P, Reynier P, Bonneau D, Procaccio V. Cassereau J, et al. Exp Neurol. 2011 Jan;227(1):31-41. doi: 10.1016/j.expneurol.2010.09.006. Epub 2010 Sep 21. Exp Neurol. 2011. PMID: 20849849 Review.
Charcot-Marie-Tooth (CMT) disease represents a large group of clinically and genetically heterogeneous disorders leading to inherited peripheral neuropathies affecting motor and sensory neurons. Mutations in the ganglioside-induced differentiation-asso …
Charcot-Marie-Tooth (CMT) disease represents a large group of clinically and genetically heterogeneous disorders …
Hereditary neuropathies: An update.
Stojkovic T. Stojkovic T. Rev Neurol (Paris). 2016 Dec;172(12):775-778. doi: 10.1016/j.neurol.2016.06.007. Epub 2016 Nov 17. Rev Neurol (Paris). 2016. PMID: 27866730 Review.
Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. ... …
Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease …
Disturbed mitochondrial dynamics and neurodegenerative disorders.
Burté F, Carelli V, Chinnery PF, Yu-Wai-Man P. Burté F, et al. Nat Rev Neurol. 2015 Jan;11(1):11-24. doi: 10.1038/nrneurol.2014.228. Epub 2014 Dec 9. Nat Rev Neurol. 2015. PMID: 25486875 Review.
Mitochondria form a highly interconnected tubular network throughout the cell via a dynamic process, with mitochondrial segments fusing and breaking apart continuously. ...Pathogenic mutations that disrupt these two pro-fusion proteins cause autosomal dominan …
Mitochondria form a highly interconnected tubular network throughout the cell via a dynamic process, with mitochondrial …
[Review of the recent literature on hereditary neuropathies].
Birouk N. Birouk N. Rev Neurol (Paris). 2014 Dec;170(12):846-9. doi: 10.1016/j.neurol.2014.10.001. Epub 2014 Nov 20. Rev Neurol (Paris). 2014. PMID: 25459128 Review. French.
The recent literature included interesting reports on the pathogenic mechanisms of hereditary neuropathies. The axonal traffic and its abnormalities in some forms of Charcot-Marie-Tooth (CMT) disease were particularly reviewed by Bucci et al. .. …
The recent literature included interesting reports on the pathogenic mechanisms of hereditary neuropathies. The axonal traffic and it …
[Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease].
Sołtysińska E, Kabzińska D, Kochański A. Sołtysińska E, et al. Neurol Neurochir Pol. 2007 Jul-Aug;41(4):350-4. Neurol Neurochir Pol. 2007. PMID: 17874344 Review. Polish.
In contrast to Charcot-Marie-Tooth type 1 disease (CMT1), which is most commonly caused by 17p11.2-p12 duplication (in 70% of CMT1 cases), the axonal form of hereditary motor and sensory neuropathy (CMT2) seemed to be a genetically …
In contrast to Charcot-Marie-Tooth type 1 disease (CMT1), which is most commonly caused by 17p11.2-p12 du …