Page 64 - Read Online

Page 348 Estévez-Arias et al. J Transl Genet Genom 2022;6:333-52 https://dx.doi.org/10.20517/jtgg.2022.04

5. Barreto LC, Oliveira FS, Nunes PS, et al. Epidemiologic study of Charcot-Marie-Tooth disease: a systematic review.
Neuroepidemiology 2016;46:157-65. DOI PubMed
6. Combarros O, Calleja J, Polo JM, Berciano J. Prevalence of hereditary motor and sensory neuropathy in Cantabria. Acta Neurol
Scand 1987;75:9-12. DOI PubMed
7. Bird TD. Charcot-Marie-Tooth (CMT) hereditary neuropathy overview. 1998 Sep 28 [updated 2021 Sep 9]. In: Adam MP, Ardinger
HH, Pagon RA, et al., editors. GeneReviews®[Internet]. Seattle, WA: University of Washington, 1993-2022.
8. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980;103:259-80.
DOI PubMed
9. Werheid F, Azzedine H, Zwerenz E, et al. Underestimated associated features in CMT neuropathies: clinical indicators for the
causative gene? Brain Behav 2016;6:e00451. DOI PubMed PMC
10. Anzalone CL, Nuhanovic S, Olund AP, Carlson ML. Cochlear implantation in Charcot-Marie-Tooth disease: case report and review
of the literature. Case Rep Med 2018;2018:1760978. DOI PubMed PMC
11. Lerat J, Magdelaine C, Beauvais-Dzugan H, et al. A novel pathogenic variant of NEFL responsible for deafness associated with
peripheral neuropathy discovered through next-generation sequencing and review of the literature. J Peripher Nerv Syst 2019;24:139-
44. DOI PubMed
12. Jani-Acsadi A, Ounpuu S, Pierz K, Acsadi G. Pediatric Charcot-Marie-Tooth disease. Pediatr Clin N Am 2015;62:767-86. DOI
PubMed
13. Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME. Charcot-Marie-Tooth disease subtypes and genetic testing
strategies. Ann Neurol 2011;69:22-33. DOI PubMed PMC
14. Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev
Neurol 2013;9:562-71. DOI PubMed
15. Raeymaekers P, Timmerman V, Nelis E, et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a
(CMT 1a). Neuromuscul Disord 1991;1:93-7. DOI PubMed
16. Lupski JR, de Oca-luna RM, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell
1991;66:219-32. DOI PubMed
17. Gonzaga-Jauregui C, Harel T, Gambin T, et al. Exome sequence analysis suggests that genetic burden contributes to phenotypic
variability and complex neuropathy. Cell Rep 2015;12:1169-83. DOI PubMed
18. Blair IP, Nash J, Gordon MJ, Nicholson GA. Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A:
first report of a de novo duplication with a maternal origin. Am J Hum Genet 1996;58:472-6. PubMed PMC
19. Ouvrier R. What can we learn from the history of Charcot-Marie-Tooth disease? Dev Med Child Neurol 2010;52:405-6. DOI
PubMed
20. Magy L, Mathis S, Le Masson G, Goizet C, Tazir M, Vallat JM. Updating the classification of inherited neuropathies: Results of an
international survey. Neurology 2018;90:e870-6. DOI PubMed
21. Mathis S, Goizet C, Tazir M, et al. Charcot-Marie-Tooth diseases: an update and some new proposals for the classification. J Med
Genet 2015;52:681-90. DOI PubMed
22. Timmerman V, Strickland AV, Züchner S. Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome
project success. Genes 2014;5:13-32. DOI PubMed PMC
23. Høyer H, Braathen GJ, Busk ØL, et al. Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation
sequencing. Biomed Res Int 2014;2014:210401. DOI
24. Juárez P, Palau F. Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy. Neural Plast
2012;2012:171636. DOI PubMed PMC
25. Cohen E, Bonne G, Rivier F, Hamroun D. The 2022 version of the gene table of neuromuscular disorders (nuclear genome).
Neuromuscul Disord 2021;31:1313-57. DOI PubMed
26. Rossor AM, Evans MR, Reilly MM. A practical approach to the genetic neuropathies. Pract Neurol 2015;15:187-98. DOI PubMed
27. Miller LJ, Saporta AS, Sottile SL, Siskind CE, Feely SM, Shy ME. Strategy for genetic testing in Charcot-Marie-disease. Acta Myol
2011;30:109-16. PubMed PMC
28. Cortese A, Wilcox JE, Polke JM, et al. Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Neurology 2020;94:e51-61. DOI PubMed
29. Yubero D, Natera-de Benito D, Pijuan J, et al. The increasing impact of translational research in the molecular diagnostics of
neuromuscular diseases. Int J Mol Sci 2021;22:4274. DOI PubMed PMC
30. Richards S, Aziz N, Bale S, et al; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation
of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the
Association for Molecular Pathology. Genet Med 2015;17:405-24. DOI PubMed PMC
31. Young P, De Jonghe P, Stögbauer F, Butterfass-Bahloul T. Treatment for Charcot-Marie-Tooth disease. Cochrane Database Syst Rev
2008;1:CD006052. DOI PubMed PMC
32. Sackley C, Disler PB, Turner-stokes L, et al. Rehabilitation interventions for foot drop in neuromuscular disease. Cochrane Database
of Systematic Reviews. Cochrane Database Syst Rev 2009;8:CD003908. DOI PubMed
33. Guillebastre B, Calmels P, Rougier PR. Assessment of appropriate ankle-foot orthoses models for patients with Charcot-Marie-Tooth
disease. Am J Phys Med Rehabil 2011;90:619-27. DOI PubMed