Charcot–Marie–Tooth disease (English Wikipedia)

Le T, Bhushan V (6 January 2014). First Aid for the USMLE Step 1 2014. McGraw-Hill Education. ISBN 978-0-07-183142-0. Retrieved 4 September 2014. Typically autosomal dominant inheritance pattern associated with scoliosis and foot deformities (high or flat arches).

charcot-marie-tooth.org

"Medical Alert". Charcot-Marie-Tooth Association. Archived from the original on 2007-07-02. Retrieved 2007-08-21.

cmtausa.org

"Treatment and Management of CMT" (Press release). Charcot-Marie-Tooth Association. October 6, 2010. Retrieved August 26, 2011.
"Diagnosing CMT". Charcot–Marie–Tooth Association. Retrieved 2020-05-30.

doi.org

Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, et al. (June 2016). "Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease". JAMA Neurology. 73 (6): 645–651. doi:10.1001/jamaneurol.2016.0171. PMC 4916861. PMID 27043305.
Skre H (2008-04-23). "Genetic and clinical aspects of Charcot-Marie-Tooth's disease". Clinical Genetics. 6 (2): 98–118. doi:10.1111/j.1399-0004.1974.tb00638.x. PMID 4430158. S2CID 45225191.
Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, et al. (July 2000). "Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A". Brain. 123 (7): 1516–1527. doi:10.1093/brain/123.7.1516. PMID 10869062.
Kumar DR, Aslinia F, Yale SH, Mazza JJ (March 2011). "Jean-Martin Charcot: The Father of Neurology". Clinical Medicine & Research. 9 (1): 46–49. doi:10.3121/cmr.2009.883. ISSN 1539-4182. PMC 3064755. PMID 20739583.
Soykan I, McCallum RW (January 1997). "Gastrointestinal involvement in neurologic disorders: Stiff-man and Charcot-Marie-Tooth syndromes". The American Journal of the Medical Sciences. 313 (1): 70–73. doi:10.1097/00000441-199701000-00012. PMID 9001170.
Carter GT, Jensen MP, Galer BS, Kraft GH, Crabtree LD, Beardsley RM, et al. (December 1998). "Neuropathic pain in Charcot-Marie-Tooth disease". Archives of Physical Medicine and Rehabilitation. 79 (12): 1560–1564. doi:10.1016/S0003-9993(98)90421-X. PMID 9862301.
Niemann A, Berger P, Suter U (March 2006). "Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease". NeuroMolecular Medicine. 8 (1–2): 217–241. doi:10.1385/NMM:8:1-2:217 (inactive 2024-03-14). hdl:20.500.11850/422903. ISSN 1535-1084. PMID 16775378. S2CID 17130051.{{cite journal}}: CS1 maint: DOI inactive as of March 2024 (link)^{[permanent dead link]}
Hoyle JC, Isfort MC, Roggenbuck J, Arnold WD (2015). "The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management". The Application of Clinical Genetics. 8: 235–243. doi:10.2147/TACG.S69969. PMC 4621202. PMID 26527893.
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, et al. (April 2010). "Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy". The New England Journal of Medicine. 362 (13): 1181–1191. doi:10.1056/NEJMoa0908094. PMC 4036802. PMID 20220177.
Florescu C, Albu CV, Dumitrescu C, Târtea GC, Florescu OA, Târtea EA (2017). "Sleep and Memory Disorders in a Patient Suffering from Charcot-Marie-Tooth Disease". Current Health Sciences Journal. 43 (1): 73–77. doi:10.12865/CHSJ.43.01.11. PMC 6286719. PMID 30595858.
Baloh RH, Schmidt RE, Pestronk A, Milbrandt J (January 2007). "Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations". The Journal of Neuroscience. 27 (2): 422–430. doi:10.1523/JNEUROSCI.4798-06.2007. PMC 6672077. PMID 17215403.
Berger P, Young P, Suter U (March 2002). "Molecular cell biology of Charcot-Marie-Tooth disease". Neurogenetics. 4 (1): 1–15. doi:10.1007/s10048-002-0130-z. PMID 12030326. S2CID 25129077.
Kleopa KA (December 2011). "The role of gap junctions in Charcot-Marie-Tooth disease". The Journal of Neuroscience. 31 (49): 17753–17760. doi:10.1523/JNEUROSCI.4824-11.2011. PMC 6634164. PMID 22159091.
Szigeti K, Lupski JR (June 2009). "Charcot-Marie-Tooth disease". European Journal of Human Genetics. 17 (6): 703–710. doi:10.1038/ejhg.2009.31. PMC 2947101. PMID 19277060.
Koutsis G, Breza M, Velonakis G, Tzartos J, Kasselimis D, Kartanou C, et al. (February 2019). "X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association". Journal of Neurology, Neurosurgery, and Psychiatry. 90 (2): 187–194. doi:10.1136/jnnp-2018-319014. PMID 30196252. S2CID 52175657.
Yiu EM, Burns J, Ryan MM, Ouvrier RA (September 2008). "Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A". Journal of the Peripheral Nervous System. 13 (3): 236–241. doi:10.1111/j.1529-8027.2008.00182.x. PMID 18844790. S2CID 205694771.
Sleigh JN, Mech AM, Aktar T, Zhang Y, Schiavo G (2020). "Altered Sensory Neuron Development in CMT2D Mice Is Site-Specific and Linked to Increased GlyRS Levels". Frontiers in Cellular Neuroscience. 14: 232. doi:10.3389/fncel.2020.00232. PMC 7431706. PMID 32848623.
Sleigh JN, Grice SJ, Burgess RW, Talbot K, Cader MZ (2014). "Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice". Hum Mol Genet. 15 (10): 2639–50. doi:10.1093/hmg/ddt659. PMC 3990164. PMID 24368416.
Spaulding EL, Sleigh JN, Morelli KH, Pinter MJ, Burgess RW, Seburn KL (2016). "Synaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d". J Neurosci. 16 (11): 3254–67. doi:10.1523/JNEUROSCI.1762-15.2016. PMC 4792937. PMID 26985035.
Sleigh JN, Mech AM, Schiavo G (2020). "Developmental demands contribute to early neuromuscular degeneration in CMT2D mice". Cell Death Dis. 11 (7): 564. doi:10.1038/s41419-020-02798-y. PMC 7378196. PMID 32703932.
Sleigh JN, Dawes JM, West SJ, Wei N, Spaulding EL, Gómez-Martín A, et al. (2017). "Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations". Proc Natl Acad Sci U S A. 114 (16): E3324–E3333. Bibcode:2017PNAS..114E3324S. doi:10.1073/pnas.1614557114. PMC 5402433. PMID 28351971.
Wei N, Zhang Q, Yang XL (2019). "Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases". J Biol Chem. 294 (14): 5321–5339. doi:10.1074/jbc.REV118.002955. PMC 6462521. PMID 30643024.
He W, Bai G, Zhou H, Wei N, White NM, Lauer J, et al. (October 2015). "CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase". Nature. 526 (7575): 710–714. Bibcode:2015Natur.526..710H. doi:10.1038/nature15510. PMC 4754353. PMID 26503042.
Mendonsa S, von Kuegelgen N, Bujanic L, Chekulaeva M (September 2021). "Charcot-Marie-Tooth mutation in glycyl-tRNA synthetase stalls ribosomes in a pre-accommodation state and activates integrated stress response". Nucleic Acids Research. 49 (17): 10007–10017. doi:10.1093/nar/gkab730. PMC 8464049. PMID 34403468.
Aguirre-Rodríguez FJ, Lucenilla MI, Alvarez-Cubero MJ, Mata C, Entrala-Bernal C, Fernandez-Rosado F (October 2015). "Novel FA2H mutation in a girl with familial spastic paraplegia". Journal of the Neurological Sciences. 357 (1–2): 332–334. doi:10.1016/j.jns.2015.08.1183. PMID 26344562.
Kobayashi T, Leung AK, Akazawa Y, Hutchins SW (March 2013). "The effect of varying the plantarflexion resistance of an ankle-foot orthosis on knee joint kinematics in patients with stroke". Gait & Posture. 37 (3): 457–459. doi:10.1016/j.gaitpost.2012.07.028. PMID 22921491.
Meyns P, Kerkum YL, Brehm MA, Becher JG, Buizer AI, Harlaar J (May 2020). "Ankle foot orthoses in cerebral palsy: Effects of ankle stiffness on trunk kinematics, gait stability and energy cost of walking". European Journal of Paediatric Neurology. 26: 68–74. doi:10.1016/j.ejpn.2020.02.009. PMID 32147412. S2CID 212641072.
Meyns P, Kerkum Y, Buizer A, Becher J, Brehm M, Harlaar J (2016-09-01). "The effect of ankle foot orthosis stiffness on trunk movement and walking energy cost in cerebral palsy". Gait & Posture (in German). 49. p. 2. doi:10.1016/j.gaitpost.2016.07.070. ISSN 0966-6362.
Kerkum YL, Buizer AI, van den Noort JC, Becher JG, Harlaar J, Brehm MA (2015-11-23). "The Effects of Varying Ankle Foot Orthosis Stiffness on Gait in Children with Spastic Cerebral Palsy Who Walk with Excessive Knee Flexion". PLOS ONE (in German). 10 (11): e0142878. Bibcode:2015PLoSO..1042878K. doi:10.1371/journal.pone.0142878. PMC 4658111. PMID 26600039.
Ploeger HE, Waterval NF, Nollet F, Bus SA, Brehm MA (2019). "Stiffness modification of two ankle-foot orthosis types to optimize gait in individuals with non-spastic calf muscle weakness - a proof-of-concept study". Journal of Foot and Ankle Research (in German). 12: 41. doi:10.1186/s13047-019-0348-8. PMC 6686412. PMID 31406508.
Pareyson D, Marchesi C (July 2009). "Diagnosis, natural history, and management of Charcot-Marie-Tooth disease". The Lancet. Neurology. 8 (7): 654–667. doi:10.1016/S1474-4422(09)70110-3. PMID 19539237. S2CID 665324.
Aboussouan LS, Lewis RA, Shy ME (2007-02-09). "Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease". Lung. 185 (1): 1–7. doi:10.1007/s00408-006-0053-9. PMID 17294338. S2CID 12889721.

ghostarchive.org

Wade N (2010-03-10). "Disease Cause Is Pinpointed With Genome". New York Times. Archived from the original on 2022-01-01.

handle.net

hdl.handle.net

Niemann A, Berger P, Suter U (March 2006). "Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease". NeuroMolecular Medicine. 8 (1–2): 217–241. doi:10.1385/NMM:8:1-2:217 (inactive 2024-03-14). hdl:20.500.11850/422903. ISSN 1535-1084. PMID 16775378. S2CID 17130051.{{cite journal}}: CS1 maint: DOI inactive as of March 2024 (link)^{[permanent dead link]}

harvard.edu

ui.adsabs.harvard.edu

Sleigh JN, Dawes JM, West SJ, Wei N, Spaulding EL, Gómez-Martín A, et al. (2017). "Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations". Proc Natl Acad Sci U S A. 114 (16): E3324–E3333. Bibcode:2017PNAS..114E3324S. doi:10.1073/pnas.1614557114. PMC 5402433. PMID 28351971.
He W, Bai G, Zhou H, Wei N, White NM, Lauer J, et al. (October 2015). "CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase". Nature. 526 (7575): 710–714. Bibcode:2015Natur.526..710H. doi:10.1038/nature15510. PMC 4754353. PMID 26503042.
Kerkum YL, Buizer AI, van den Noort JC, Becher JG, Harlaar J, Brehm MA (2015-11-23). "The Effects of Varying Ankle Foot Orthosis Stiffness on Gait in Children with Spastic Cerebral Palsy Who Walk with Excessive Knee Flexion". PLOS ONE (in German). 10 (11): e0142878. Bibcode:2015PLoSO..1042878K. doi:10.1371/journal.pone.0142878. PMC 4658111. PMID 26600039.

lindacrabtree.com

"CMT News". Lindacrabtree.com. Archived from the original on 2016-08-05. Retrieved 2016-11-13.

mda.org

"CMT2 - Types of Charcot-Marie-Tooth Disease (CMT) - Diseases". Muscular Dystrophy Association. 2015-12-23. Retrieved 2022-05-10.

medscape.com

emedicine.medscape.com

"Physical Medicine and Rehabilitation for Charcot–Marie–Tooth Disease: Background, Pathophysiology, Epidemiology". Emedicine.medscape.com. Retrieved 2016-11-13.

nih.gov

pubmed.ncbi.nlm.nih.gov

Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, et al. (June 2016). "Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease". JAMA Neurology. 73 (6): 645–651. doi:10.1001/jamaneurol.2016.0171. PMC 4916861. PMID 27043305.
Skre H (2008-04-23). "Genetic and clinical aspects of Charcot-Marie-Tooth's disease". Clinical Genetics. 6 (2): 98–118. doi:10.1111/j.1399-0004.1974.tb00638.x. PMID 4430158. S2CID 45225191.
Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, et al. (July 2000). "Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A". Brain. 123 (7): 1516–1527. doi:10.1093/brain/123.7.1516. PMID 10869062.
Kumar DR, Aslinia F, Yale SH, Mazza JJ (March 2011). "Jean-Martin Charcot: The Father of Neurology". Clinical Medicine & Research. 9 (1): 46–49. doi:10.3121/cmr.2009.883. ISSN 1539-4182. PMC 3064755. PMID 20739583.
Soykan I, McCallum RW (January 1997). "Gastrointestinal involvement in neurologic disorders: Stiff-man and Charcot-Marie-Tooth syndromes". The American Journal of the Medical Sciences. 313 (1): 70–73. doi:10.1097/00000441-199701000-00012. PMID 9001170.
Carter GT, Jensen MP, Galer BS, Kraft GH, Crabtree LD, Beardsley RM, et al. (December 1998). "Neuropathic pain in Charcot-Marie-Tooth disease". Archives of Physical Medicine and Rehabilitation. 79 (12): 1560–1564. doi:10.1016/S0003-9993(98)90421-X. PMID 9862301.
Niemann A, Berger P, Suter U (March 2006). "Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease". NeuroMolecular Medicine. 8 (1–2): 217–241. doi:10.1385/NMM:8:1-2:217 (inactive 2024-03-14). hdl:20.500.11850/422903. ISSN 1535-1084. PMID 16775378. S2CID 17130051.{{cite journal}}: CS1 maint: DOI inactive as of March 2024 (link)^{[permanent dead link]}
Hoyle JC, Isfort MC, Roggenbuck J, Arnold WD (2015). "The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management". The Application of Clinical Genetics. 8: 235–243. doi:10.2147/TACG.S69969. PMC 4621202. PMID 26527893.
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, et al. (April 2010). "Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy". The New England Journal of Medicine. 362 (13): 1181–1191. doi:10.1056/NEJMoa0908094. PMC 4036802. PMID 20220177.
Florescu C, Albu CV, Dumitrescu C, Târtea GC, Florescu OA, Târtea EA (2017). "Sleep and Memory Disorders in a Patient Suffering from Charcot-Marie-Tooth Disease". Current Health Sciences Journal. 43 (1): 73–77. doi:10.12865/CHSJ.43.01.11. PMC 6286719. PMID 30595858.
Baloh RH, Schmidt RE, Pestronk A, Milbrandt J (January 2007). "Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations". The Journal of Neuroscience. 27 (2): 422–430. doi:10.1523/JNEUROSCI.4798-06.2007. PMC 6672077. PMID 17215403.
Berger P, Young P, Suter U (March 2002). "Molecular cell biology of Charcot-Marie-Tooth disease". Neurogenetics. 4 (1): 1–15. doi:10.1007/s10048-002-0130-z. PMID 12030326. S2CID 25129077.
Kleopa KA (December 2011). "The role of gap junctions in Charcot-Marie-Tooth disease". The Journal of Neuroscience. 31 (49): 17753–17760. doi:10.1523/JNEUROSCI.4824-11.2011. PMC 6634164. PMID 22159091.
Szigeti K, Lupski JR (June 2009). "Charcot-Marie-Tooth disease". European Journal of Human Genetics. 17 (6): 703–710. doi:10.1038/ejhg.2009.31. PMC 2947101. PMID 19277060.
Koutsis G, Breza M, Velonakis G, Tzartos J, Kasselimis D, Kartanou C, et al. (February 2019). "X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association". Journal of Neurology, Neurosurgery, and Psychiatry. 90 (2): 187–194. doi:10.1136/jnnp-2018-319014. PMID 30196252. S2CID 52175657.
Yiu EM, Burns J, Ryan MM, Ouvrier RA (September 2008). "Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A". Journal of the Peripheral Nervous System. 13 (3): 236–241. doi:10.1111/j.1529-8027.2008.00182.x. PMID 18844790. S2CID 205694771.
Sleigh JN, Mech AM, Aktar T, Zhang Y, Schiavo G (2020). "Altered Sensory Neuron Development in CMT2D Mice Is Site-Specific and Linked to Increased GlyRS Levels". Frontiers in Cellular Neuroscience. 14: 232. doi:10.3389/fncel.2020.00232. PMC 7431706. PMID 32848623.
Sleigh JN, Grice SJ, Burgess RW, Talbot K, Cader MZ (2014). "Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice". Hum Mol Genet. 15 (10): 2639–50. doi:10.1093/hmg/ddt659. PMC 3990164. PMID 24368416.
Spaulding EL, Sleigh JN, Morelli KH, Pinter MJ, Burgess RW, Seburn KL (2016). "Synaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d". J Neurosci. 16 (11): 3254–67. doi:10.1523/JNEUROSCI.1762-15.2016. PMC 4792937. PMID 26985035.
Sleigh JN, Mech AM, Schiavo G (2020). "Developmental demands contribute to early neuromuscular degeneration in CMT2D mice". Cell Death Dis. 11 (7): 564. doi:10.1038/s41419-020-02798-y. PMC 7378196. PMID 32703932.
Sleigh JN, Dawes JM, West SJ, Wei N, Spaulding EL, Gómez-Martín A, et al. (2017). "Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations". Proc Natl Acad Sci U S A. 114 (16): E3324–E3333. Bibcode:2017PNAS..114E3324S. doi:10.1073/pnas.1614557114. PMC 5402433. PMID 28351971.
Wei N, Zhang Q, Yang XL (2019). "Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases". J Biol Chem. 294 (14): 5321–5339. doi:10.1074/jbc.REV118.002955. PMC 6462521. PMID 30643024.
He W, Bai G, Zhou H, Wei N, White NM, Lauer J, et al. (October 2015). "CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase". Nature. 526 (7575): 710–714. Bibcode:2015Natur.526..710H. doi:10.1038/nature15510. PMC 4754353. PMID 26503042.
Mendonsa S, von Kuegelgen N, Bujanic L, Chekulaeva M (September 2021). "Charcot-Marie-Tooth mutation in glycyl-tRNA synthetase stalls ribosomes in a pre-accommodation state and activates integrated stress response". Nucleic Acids Research. 49 (17): 10007–10017. doi:10.1093/nar/gkab730. PMC 8464049. PMID 34403468.
Aguirre-Rodríguez FJ, Lucenilla MI, Alvarez-Cubero MJ, Mata C, Entrala-Bernal C, Fernandez-Rosado F (October 2015). "Novel FA2H mutation in a girl with familial spastic paraplegia". Journal of the Neurological Sciences. 357 (1–2): 332–334. doi:10.1016/j.jns.2015.08.1183. PMID 26344562.
Kobayashi T, Leung AK, Akazawa Y, Hutchins SW (March 2013). "The effect of varying the plantarflexion resistance of an ankle-foot orthosis on knee joint kinematics in patients with stroke". Gait & Posture. 37 (3): 457–459. doi:10.1016/j.gaitpost.2012.07.028. PMID 22921491.
Meyns P, Kerkum YL, Brehm MA, Becher JG, Buizer AI, Harlaar J (May 2020). "Ankle foot orthoses in cerebral palsy: Effects of ankle stiffness on trunk kinematics, gait stability and energy cost of walking". European Journal of Paediatric Neurology. 26: 68–74. doi:10.1016/j.ejpn.2020.02.009. PMID 32147412. S2CID 212641072.
Kerkum YL, Buizer AI, van den Noort JC, Becher JG, Harlaar J, Brehm MA (2015-11-23). "The Effects of Varying Ankle Foot Orthosis Stiffness on Gait in Children with Spastic Cerebral Palsy Who Walk with Excessive Knee Flexion". PLOS ONE (in German). 10 (11): e0142878. Bibcode:2015PLoSO..1042878K. doi:10.1371/journal.pone.0142878. PMC 4658111. PMID 26600039.
Ploeger HE, Waterval NF, Nollet F, Bus SA, Brehm MA (2019). "Stiffness modification of two ankle-foot orthosis types to optimize gait in individuals with non-spastic calf muscle weakness - a proof-of-concept study". Journal of Foot and Ankle Research (in German). 12: 41. doi:10.1186/s13047-019-0348-8. PMC 6686412. PMID 31406508.
Pareyson D, Marchesi C (July 2009). "Diagnosis, natural history, and management of Charcot-Marie-Tooth disease". The Lancet. Neurology. 8 (7): 654–667. doi:10.1016/S1474-4422(09)70110-3. PMID 19539237. S2CID 665324.
Aboussouan LS, Lewis RA, Shy ME (2007-02-09). "Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease". Lung. 185 (1): 1–7. doi:10.1007/s00408-006-0053-9. PMID 17294338. S2CID 12889721.

ncbi.nlm.nih.gov

Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, et al. (June 2016). "Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease". JAMA Neurology. 73 (6): 645–651. doi:10.1001/jamaneurol.2016.0171. PMC 4916861. PMID 27043305.
Kumar DR, Aslinia F, Yale SH, Mazza JJ (March 2011). "Jean-Martin Charcot: The Father of Neurology". Clinical Medicine & Research. 9 (1): 46–49. doi:10.3121/cmr.2009.883. ISSN 1539-4182. PMC 3064755. PMID 20739583.
Hoyle JC, Isfort MC, Roggenbuck J, Arnold WD (2015). "The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management". The Application of Clinical Genetics. 8: 235–243. doi:10.2147/TACG.S69969. PMC 4621202. PMID 26527893.
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, et al. (April 2010). "Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy". The New England Journal of Medicine. 362 (13): 1181–1191. doi:10.1056/NEJMoa0908094. PMC 4036802. PMID 20220177.
Florescu C, Albu CV, Dumitrescu C, Târtea GC, Florescu OA, Târtea EA (2017). "Sleep and Memory Disorders in a Patient Suffering from Charcot-Marie-Tooth Disease". Current Health Sciences Journal. 43 (1): 73–77. doi:10.12865/CHSJ.43.01.11. PMC 6286719. PMID 30595858.
Baloh RH, Schmidt RE, Pestronk A, Milbrandt J (January 2007). "Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations". The Journal of Neuroscience. 27 (2): 422–430. doi:10.1523/JNEUROSCI.4798-06.2007. PMC 6672077. PMID 17215403.
Kleopa KA (December 2011). "The role of gap junctions in Charcot-Marie-Tooth disease". The Journal of Neuroscience. 31 (49): 17753–17760. doi:10.1523/JNEUROSCI.4824-11.2011. PMC 6634164. PMID 22159091.
Szigeti K, Lupski JR (June 2009). "Charcot-Marie-Tooth disease". European Journal of Human Genetics. 17 (6): 703–710. doi:10.1038/ejhg.2009.31. PMC 2947101. PMID 19277060.
Sleigh JN, Mech AM, Aktar T, Zhang Y, Schiavo G (2020). "Altered Sensory Neuron Development in CMT2D Mice Is Site-Specific and Linked to Increased GlyRS Levels". Frontiers in Cellular Neuroscience. 14: 232. doi:10.3389/fncel.2020.00232. PMC 7431706. PMID 32848623.
"Charcot-Marie-Tooth disease type 2D (Concept Id: C1832274)". MedGen - NCBI. Retrieved 2022-05-10.
Sleigh JN, Grice SJ, Burgess RW, Talbot K, Cader MZ (2014). "Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice". Hum Mol Genet. 15 (10): 2639–50. doi:10.1093/hmg/ddt659. PMC 3990164. PMID 24368416.
Spaulding EL, Sleigh JN, Morelli KH, Pinter MJ, Burgess RW, Seburn KL (2016). "Synaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d". J Neurosci. 16 (11): 3254–67. doi:10.1523/JNEUROSCI.1762-15.2016. PMC 4792937. PMID 26985035.
Sleigh JN, Mech AM, Schiavo G (2020). "Developmental demands contribute to early neuromuscular degeneration in CMT2D mice". Cell Death Dis. 11 (7): 564. doi:10.1038/s41419-020-02798-y. PMC 7378196. PMID 32703932.
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