New developments in Charcot-Marie-Tooth neuropathy and related diseases, Curr. Opin. Neurol, vol.30, pp.471-480, 2017. ,
Genetic and clinical aspects of Charcot-Marie-Tooth disease, Clin. Genet, vol.6, pp.98-118, 1974. ,
The international CMT consortium, J. Neurol. Neurosurg. Psychiatry, vol.86, pp.873-878, 2015. ,
A growth arrest-specific (gas) gene codes for a membrane protein, Mol. Cell Biol, vol.10, pp.2924-2930, 1990. ,
Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A, Brain, vol.124, pp.2177-2187, 2001. ,
Exposure at the cell surface is required for gas3/PMP22 to regulate both cell death and cell spreading: Implication for the Charcot-Marie-Tooth type 1A and Dejerine-Sottas diseases, Mol. Biol. Cell, vol.11, pp.2901-2914, 2000. ,
Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: Its relation to the demyelinating peripheral neuropathy CMT1A, Gene. Dev, vol.9, pp.1846-1856, 1995. ,
Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA, Hum. Mol. Genet, vol.5, pp.563-569, 1996. ,
A rat transgenic model for Charcot-Marie-Tooth disease, Neuron, vol.16, pp.1049-1060, 1996. ,
Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage, J. Neurosci, vol.16, pp.5351-5360, 1996. ,
Connexin 32 is involved in mitosis, Glia, vol.60, pp.457-464, 2012. ,
The role of tRNA synthetases in neurological and neuromuscular disorders, FEBS Lett, vol.592, pp.703-717, 2018. ,
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A, Nat. Genet, vol.36, pp.449-451, 2004. ,
Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development, J. Cell Biol, vol.160, pp.189-200, 2003. ,
Disruption of fusion results in mitochondrial heterogeneity and dysfunction, J. Biol. Chem, vol.280, pp.26185-26192, 2005. ,
Ganglioside-induced differentiation associated protein 1 (GDAP1) is a regulator of the mitochondrial network-New implications for Charcot-Marie-Tooth disease, J. Cell Biol, vol.170, pp.1067-1078, 2005. ,
The gene encoding ganglioside-induced differentiation associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4Adisease, Nat. Genet, vol.30, pp.22-25, 2002. ,
Ganglioside-induced differentiation associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21, Nat. Genet, vol.30, pp.21-22, 2002. ,
Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons, Cell, vol.71, pp.565-576, 1992. ,
Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies, Nat. Genet, vol.11, pp.281-286, 1995. ,
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies, Nat. Genet, vol.18, pp.382-384, 1998. ,
The transcription factor Sox10 is a key regulator of peripheral glial development, Genes Dev, vol.15, pp.66-78, 2001. ,
Krox-20 controls myelination in the peripheral nervous system, Nature, vol.371, pp.796-799, 1994. ,
Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease, Nat. Med, vol.10, pp.396-401, 2004. ,
Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A), Nat. Med, vol.9, pp.1533-1537, 2003. ,
PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models, J. Clin. Investig, vol.128, pp.359-368, 2018. ,
CamKII inhibitors reduce mitotic instability, connexon anomalies and progression of the invivo behavioral phenotype in transgenic animals expressing a mutated Gjb1gene, Front Neurosci, vol.13, pp.8-151, 2014. ,
Fontes, M. CMTX11 patients' cells present genomic instability corrected by CamKII inhibitors, Orphanet J. Rare Dis, vol.10, 2015. ,
Intrathecal gene therapy in mouse models expressing CMT1X mutations, Hum. Mol. Genet, vol.27, pp.1460-1473, 2018. ,
Preventing proteostasis diseases by selective inhibition of a phosphatase regulatory subunit, Science, vol.348, pp.239-242, 2015. ,
Neuroinflammation as modifier of genetically caused neurological disorders of the central nervous system: Understanding pathogenesis and chances for treatment, vol.65, pp.1407-1422, 2017. ,
Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature, Medicine, vol.95, p.3278, 2016. ,