Sorting out the inherited neuropathies
- PMID: 17430873
Sorting out the inherited neuropathies
Similar articles
-
Diagnosis and new treatments in genetic neuropathies.J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1304-14. doi: 10.1136/jnnp.2008.158295. J Neurol Neurosurg Psychiatry. 2009. PMID: 19917815 Review.
-
[Genetics of neuropathies].Nervenarzt. 2013 Feb;84(2):157-65. doi: 10.1007/s00115-012-3640-4. Nervenarzt. 2013. PMID: 23325310 Review. German.
-
Hereditary motor and sensory neuropathies.Pediatr Ann. 1989 Jul;18(7):428-31. doi: 10.3928/0090-4481-19890701-08. Pediatr Ann. 1989. PMID: 2666924 Review. No abstract available.
-
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B.Am J Hum Genet. 1996 Jul;59(1):258-62. Am J Hum Genet. 1996. PMID: 8659534 Free PMC article. No abstract available.
-
Inherited neuropathies.Semin Neurol. 2012 Jul;32(3):204-14. doi: 10.1055/s-0032-1329198. Epub 2012 Nov 1. Semin Neurol. 2012. PMID: 23117945 Free PMC article. Review.
Cited by
-
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.Hum Mol Genet. 2010 Mar 15;19(6):1009-18. doi: 10.1093/hmg/ddp565. Epub 2009 Dec 22. Hum Mol Genet. 2010. PMID: 20028792 Free PMC article.
-
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12842. doi: 10.1111/nan.12842. Epub 2022 Aug 10. Neuropathol Appl Neurobiol. 2022. PMID: 35904184 Free PMC article.
-
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Orphanet J Rare Dis. 2014 Mar 19;9:38. doi: 10.1186/1750-1172-9-38. Orphanet J Rare Dis. 2014. PMID: 24646194 Free PMC article. Review.
-
Saturation of the human phenome.Curr Genomics. 2010 Nov;11(7):482-99. doi: 10.2174/138920210793175886. Curr Genomics. 2010. PMID: 21532833 Free PMC article.
-
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.Brain. 2024 Sep 3;147(9):3144-3156. doi: 10.1093/brain/awae064. Brain. 2024. PMID: 38481354 Free PMC article.
Publication types
MeSH terms
Grants and funding
LinkOut - more resources
Full Text Sources