Charcot–Marie–Tooth disease (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Charcot–Marie–Tooth disease" in English language version.

refsWebsite

Global rank English rank

55nih.gov

4^th place

35doi.org

2^nd place

17worldcat.org

5^th place

5springer.com

274^th place

309^th place

2bmj.com

1,226^th place

1,421^st place

2web.archive.org

1^st place

2elsevier.com

610^th place

704^th place

2omim.org

4,380^th place

4,305^th place

1medscape.com

719^th place

636^th place

1lindacrabtree.com

low place

1cmtausa.org

low place

1patient.info

low place

7,180^th place

1handle.net

102^nd place

76^th place

1mda.org

low place

1harvard.edu

18^th place

17^th place

1jneurosci.org

low place

1wiley.com

222^nd place

297^th place

1jamanetwork.com

2,650^th place

3,409^th place

bmj.com

jnnp.bmj.com

Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, et al. (2012-07-01). "Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing". Journal of Neurology, Neurosurgery & Psychiatry. 83 (7): 706–710. doi:10.1136/jnnp-2012-302451. ISSN 0022-3050. PMC 3736805. PMID 22577229.
Koutsis G, Breza M, Velonakis G, Tzartos J, Kasselimis D, Kartanou C, et al. (2019-02-01). "X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association". Journal of Neurology, Neurosurgery & Psychiatry. 90 (2): 187–194. doi:10.1136/jnnp-2018-319014. ISSN 0022-3050. PMID 30196252.

cmtausa.org

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

doi.org

Szigeti K, Lupski JR (2009). "Charcot-Marie-Tooth disease". European Journal of Human Genetics. 17 (6): 703–710. doi:10.1038/ejhg.2009.31. PMC 2947101. PMID 19277060.
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 (August 1974). "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.
Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, et al. (2012-07-01). "Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing". Journal of Neurology, Neurosurgery & Psychiatry. 83 (7): 706–710. doi:10.1136/jnnp-2012-302451. ISSN 0022-3050. PMC 3736805. PMID 22577229.
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.
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.
Nan H, Wu Y, Cui S, Sun H, Wang J, Li Y, et al. (2022). "Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report". BMC Neurology. 22 (1): 17. doi:10.1186/s12883-021-02538-5. PMC 8740465. PMID 34996390.
Brusse E, Perumpillichira JC (2014-10-01). "G.P.294: Charcot-Marie-Tooth disease type 1A presenting as muscle hypertrophy and muscle cramps". Neuromuscular Disorders. 24 (9): 910. doi:10.1016/j.nmd.2014.06.384. ISSN 0960-8966.
Krampitz DE, Wolfe GI, Fleckenstein JL, Barohn RJ (November 1998). "Charcot-Marie-Tooth disease type 1A presenting as calf hypertrophy and muscle cramps". Neurology. 51 (5): 1508–1509. doi:10.1212/WNL.51.5.1508. PMID 9818900.
Smith TW, Bhawan J, Keller RB, Degirolami U (July 1980). "Charcot-Marie-Tooth Disease Associated with Hypertrophic Neuropathy: A Neuropathologic Study of Two Cases". Journal of Neuropathology and Experimental Neurology. 39 (4): 420–440. doi:10.1097/00005072-198007000-00003. PMID 6260904.
Brusse E, Perumpillichira J (October 2014). "G.P.294". Neuromuscular Disorders. 24 (9–10): 910. doi:10.1016/j.nmd.2014.06.384.
Niemann A, Berger P, Suter U (2006). "Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease". Neuromolecular Medicine. 8 (1–2): 217–242. doi:10.1385/nmm:8:1-2:217 (inactive 12 April 2025). hdl:20.500.11850/422903. ISSN 1535-1084. PMID 16775378.{{cite journal}}: CS1 maint: DOI inactive as of April 2025 (link)
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 (2002-03-01). "Molecular cell biology of Charcot-Marie-Tooth disease". Neurogenetics. 4 (1): 1–15. doi:10.1007/s10048-002-0130-z. ISSN 1364-6745. PMID 12030326.
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.
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.
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.
Berger P, Young P, Suter U (2002-03-01). "Molecular cell biology of Charcot-Marie-Tooth disease". Neurogenetics. 4 (1): 1–15. doi:10.1007/s10048-002-0130-z. ISSN 1364-6745. PMID 12030326.
Kleopa KA (2011-12-07). "The Role of Gap Junctions in Charcot-Marie-Tooth Disease". Journal of Neuroscience. 31 (49): 17753–17760. doi:10.1523/JNEUROSCI.4824-11.2011. ISSN 0270-6474. 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. ISSN 1476-5438. PMC 2947101. PMID 19277060.
Koutsis G, Breza M, Velonakis G, Tzartos J, Kasselimis D, Kartanou C, et al. (2019-02-01). "X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association". Journal of Neurology, Neurosurgery & Psychiatry. 90 (2): 187–194. doi:10.1136/jnnp-2018-319014. ISSN 0022-3050. PMID 30196252.
Amiott EA, Lott P, Soto J, Kang PB, McCaffery JM, DiMauro S, et al. (May 2008). "Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations". Experimental Neurology. 211 (1): 115–127. doi:10.1016/j.expneurol.2008.01.010. ISSN 0014-4886. PMC 2409111. PMID 18316077.
Yiu EM, Burns J, Ryan MM, Ouvrier RA (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. ISSN 1529-8027. PMID 18844790.
Berger P, Young P, Suter U (2002-03-01). "Molecular cell biology of Charcot-Marie-Tooth disease". Neurogenetics. 4 (1): 1–15. doi:10.1007/s10048-002-0130-z. ISSN 1364-6745. PMID 12030326.
Beloribi-Djefaflia S, Attarian S (2023-01-01). "Treatment of Charcot-Marie-Tooth neuropathies". Revue Neurologique. 179 (1): 35–48. doi:10.1016/j.neurol.2022.11.006. ISSN 0035-3787. PMID 36588067.
Kumar DR, Aslinia F, Yale SH, Mazza JJ (2011-03-01). "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.
Pearce JM (2000-01-01). "Howard Henry Tooth (1856–1925)". Journal of Neurology. 247 (1): 3–4. doi:10.1007/s004150050002. ISSN 1432-1459. PMID 10701890.
Brody IA, Wilkins RH (1967-11-01). "Charcot-Marie-Tooth Disease". Archives of Neurology. 17 (5): 552–553. doi:10.1001/archneur.1967.00470290106015. ISSN 0003-9942. PMID 4293350.
Kazamel M, Boes CJ (2015-04-01). "Charcot Marie Tooth disease (CMT): historical perspectives and evolution". Journal of Neurology. 262 (4): 801–805. doi:10.1007/s00415-014-7490-9. ISSN 1432-1459. PMID 25201224.
Lupski JR, Reid JG, Gonzaga-Jauregui C, Deiros DR, Chen DC, Nazareth L, et al. (2010-04-01). "Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy". New England Journal of Medicine. 362 (13): 1181–1191. doi:10.1056/NEJMoa0908094. ISSN 0028-4793. PMC 4036802. PMID 20220177.

elsevier.com

linkinghub.elsevier.com

Brusse E, Perumpillichira JC (2014-10-01). "G.P.294: Charcot-Marie-Tooth disease type 1A presenting as muscle hypertrophy and muscle cramps". Neuromuscular Disorders. 24 (9): 910. doi:10.1016/j.nmd.2014.06.384. ISSN 0960-8966.
Beloribi-Djefaflia S, Attarian S (2023-01-01). "Treatment of Charcot-Marie-Tooth neuropathies". Revue Neurologique. 179 (1): 35–48. doi:10.1016/j.neurol.2022.11.006. ISSN 0035-3787. PMID 36588067.

handle.net

hdl.handle.net

Niemann A, Berger P, Suter U (2006). "Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease". Neuromolecular Medicine. 8 (1–2): 217–242. doi:10.1385/nmm:8:1-2:217 (inactive 12 April 2025). hdl:20.500.11850/422903. ISSN 1535-1084. PMID 16775378.{{cite journal}}: CS1 maint: DOI inactive as of April 2025 (link)

harvard.edu

ui.adsabs.harvard.edu

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.

jamanetwork.com

Brody IA, Wilkins RH (1967-11-01). "Charcot-Marie-Tooth Disease". Archives of Neurology. 17 (5): 552–553. doi:10.1001/archneur.1967.00470290106015. ISSN 0003-9942. PMID 4293350.

jneurosci.org

Kleopa KA (2011-12-07). "The Role of Gap Junctions in Charcot-Marie-Tooth Disease". Journal of Neuroscience. 31 (49): 17753–17760. doi:10.1523/JNEUROSCI.4824-11.2011. ISSN 0270-6474. PMC 6634164. PMID 22159091.

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 at eMedicine

nih.gov

pubmed.ncbi.nlm.nih.gov

Szigeti K, Lupski JR (2009). "Charcot-Marie-Tooth disease". European Journal of Human Genetics. 17 (6): 703–710. doi:10.1038/ejhg.2009.31. PMC 2947101. PMID 19277060.
Nagappa M, Sharma S, Taly AB (2024), "Charcot-Marie-Tooth Disease", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 32965834, retrieved 2024-09-20
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 (August 1974). "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.
Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, et al. (2012-07-01). "Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing". Journal of Neurology, Neurosurgery & Psychiatry. 83 (7): 706–710. doi:10.1136/jnnp-2012-302451. ISSN 0022-3050. PMC 3736805. PMID 22577229.
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.
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.
Nan H, Wu Y, Cui S, Sun H, Wang J, Li Y, et al. (2022). "Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report". BMC Neurology. 22 (1): 17. doi:10.1186/s12883-021-02538-5. PMC 8740465. PMID 34996390.
Krampitz DE, Wolfe GI, Fleckenstein JL, Barohn RJ (November 1998). "Charcot-Marie-Tooth disease type 1A presenting as calf hypertrophy and muscle cramps". Neurology. 51 (5): 1508–1509. doi:10.1212/WNL.51.5.1508. PMID 9818900.
Smith TW, Bhawan J, Keller RB, Degirolami U (July 1980). "Charcot-Marie-Tooth Disease Associated with Hypertrophic Neuropathy: A Neuropathologic Study of Two Cases". Journal of Neuropathology and Experimental Neurology. 39 (4): 420–440. doi:10.1097/00005072-198007000-00003. PMID 6260904.
Niemann A, Berger P, Suter U (2006). "Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease". Neuromolecular Medicine. 8 (1–2): 217–242. doi:10.1385/nmm:8:1-2:217 (inactive 12 April 2025). hdl:20.500.11850/422903. ISSN 1535-1084. PMID 16775378.{{cite journal}}: CS1 maint: DOI inactive as of April 2025 (link)
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 (2002-03-01). "Molecular cell biology of Charcot-Marie-Tooth disease". Neurogenetics. 4 (1): 1–15. doi:10.1007/s10048-002-0130-z. ISSN 1364-6745. PMID 12030326.
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.
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.
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.
Berger P, Young P, Suter U (2002-03-01). "Molecular cell biology of Charcot-Marie-Tooth disease". Neurogenetics. 4 (1): 1–15. doi:10.1007/s10048-002-0130-z. ISSN 1364-6745. PMID 12030326.
Kleopa KA (2011-12-07). "The Role of Gap Junctions in Charcot-Marie-Tooth Disease". Journal of Neuroscience. 31 (49): 17753–17760. doi:10.1523/JNEUROSCI.4824-11.2011. ISSN 0270-6474. 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. ISSN 1476-5438. PMC 2947101. PMID 19277060.
Koutsis G, Breza M, Velonakis G, Tzartos J, Kasselimis D, Kartanou C, et al. (2019-02-01). "X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association". Journal of Neurology, Neurosurgery & Psychiatry. 90 (2): 187–194. doi:10.1136/jnnp-2018-319014. ISSN 0022-3050. PMID 30196252.
Amiott EA, Lott P, Soto J, Kang PB, McCaffery JM, DiMauro S, et al. (May 2008). "Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations". Experimental Neurology. 211 (1): 115–127. doi:10.1016/j.expneurol.2008.01.010. ISSN 0014-4886. PMC 2409111. PMID 18316077.
Yiu EM, Burns J, Ryan MM, Ouvrier RA (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. ISSN 1529-8027. PMID 18844790.
Berger P, Young P, Suter U (2002-03-01). "Molecular cell biology of Charcot-Marie-Tooth disease". Neurogenetics. 4 (1): 1–15. doi:10.1007/s10048-002-0130-z. ISSN 1364-6745. PMID 12030326.
Beloribi-Djefaflia S, Attarian S (2023-01-01). "Treatment of Charcot-Marie-Tooth neuropathies". Revue Neurologique. 179 (1): 35–48. doi:10.1016/j.neurol.2022.11.006. ISSN 0035-3787. PMID 36588067.
Kumar DR, Aslinia F, Yale SH, Mazza JJ (2011-03-01). "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.
Pearce JM (2000-01-01). "Howard Henry Tooth (1856–1925)". Journal of Neurology. 247 (1): 3–4. doi:10.1007/s004150050002. ISSN 1432-1459. PMID 10701890.
Brody IA, Wilkins RH (1967-11-01). "Charcot-Marie-Tooth Disease". Archives of Neurology. 17 (5): 552–553. doi:10.1001/archneur.1967.00470290106015. ISSN 0003-9942. PMID 4293350.
Kazamel M, Boes CJ (2015-04-01). "Charcot Marie Tooth disease (CMT): historical perspectives and evolution". Journal of Neurology. 262 (4): 801–805. doi:10.1007/s00415-014-7490-9. ISSN 1432-1459. PMID 25201224.
Lupski JR, Reid JG, Gonzaga-Jauregui C, Deiros DR, Chen DC, Nazareth L, et al. (2010-04-01). "Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy". New England Journal of Medicine. 362 (13): 1181–1191. doi:10.1056/NEJMoa0908094. ISSN 0028-4793. PMC 4036802. PMID 20220177.

ncbi.nlm.nih.gov

Szigeti K, Lupski JR (2009). "Charcot-Marie-Tooth disease". European Journal of Human Genetics. 17 (6): 703–710. doi:10.1038/ejhg.2009.31. PMC 2947101. PMID 19277060.
Nagappa M, Sharma S, Taly AB (2024), "Charcot-Marie-Tooth Disease", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 32965834, retrieved 2024-09-20
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.
Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, et al. (2012-07-01). "Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing". Journal of Neurology, Neurosurgery & Psychiatry. 83 (7): 706–710. doi:10.1136/jnnp-2012-302451. ISSN 0022-3050. PMC 3736805. PMID 22577229.
Nan H, Wu Y, Cui S, Sun H, Wang J, Li Y, et al. (2022). "Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report". BMC Neurology. 22 (1): 17. doi:10.1186/s12883-021-02538-5. PMC 8740465. PMID 34996390.
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Berger P, Young P, Suter U (2002-03-01). "Molecular cell biology of Charcot-Marie-Tooth disease". Neurogenetics. 4 (1): 1–15. doi:10.1007/s10048-002-0130-z. ISSN 1364-6745. PMID 12030326.
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Yiu EM, Burns J, Ryan MM, Ouvrier RA (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. ISSN 1529-8027. PMID 18844790.
Berger P, Young P, Suter U (2002-03-01). "Molecular cell biology of Charcot-Marie-Tooth disease". Neurogenetics. 4 (1): 1–15. doi:10.1007/s10048-002-0130-z. ISSN 1364-6745. PMID 12030326.
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Pearce JM (2000-01-01). "Howard Henry Tooth (1856–1925)". Journal of Neurology. 247 (1): 3–4. doi:10.1007/s004150050002. ISSN 1432-1459. PMID 10701890.
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Lupski JR, Reid JG, Gonzaga-Jauregui C, Deiros DR, Chen DC, Nazareth L, et al. (2010-04-01). "Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy". New England Journal of Medicine. 362 (13): 1181–1191. doi:10.1056/NEJMoa0908094. ISSN 0028-4793. PMC 4036802. PMID 20220177.