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Quoted phrase not found in phrase index: "Charcot-Marie-Tooth disease, demyelinating, type 1G"
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Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.
Hyun YS, Lee J, Kim HJ, Hong YB, Koo H, Smith AS, Kim DH, Choi BO, Chung KW. Hyun YS, et al. Ann Hum Genet. 2015 Nov;79(6):460-9. doi: 10.1111/ahg.12134. Epub 2015 Sep 24. Ann Hum Genet. 2015. PMID: 26400421
Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive demyelinating subtype of peripheral enuropathies caused by mutations in the FGD4 gene. ...The missense mutations were located in highly conserved RhoGEF and PH domains …
Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive demyelinating subtype of per …
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.
Nicolaou P, Cianchetti C, Minaidou A, Marrosu G, Zamba-Papanicolaou E, Middleton L, Christodoulou K. Nicolaou P, et al. Eur J Hum Genet. 2013 Feb;21(2):190-4. doi: 10.1038/ejhg.2012.146. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781092 Free PMC article.
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy resulting from mutations in >30 genes expressed in either the Schwann cells or the axon of peripheral nerves. The disease is classified into demyelinating (CMT1 …
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy resulting from mutations in >30 ge …
The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation.
Arai H, Hayashi M, Hayasaka K, Kanda T, Tanabe Y. Arai H, et al. Neuromuscul Disord. 2013 Aug;23(8):652-5. doi: 10.1016/j.nmd.2013.04.010. Epub 2013 Jun 14. Neuromuscul Disord. 2013. PMID: 23770104
Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive demyelinating neuropathy. ...The previous case reports have been from regions bordering the Mediterranean, as well as a family from Northern Ireland. This paper present …
Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive demyelinating neuropathy. .. …