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Results: 16

1.

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC; NISC Comparative Sequencing Program, Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Züchner S, Szigeti K, Lupski JR, Hou YM, Green ED, Antonellis A.

Am J Hum Genet. 2010 Oct 8;87(4):560-6. doi: 10.1016/j.ajhg.2010.09.008.

PMID:
20920668
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

The role of aminoacyl-tRNA synthetases in genetic diseases.

Antonellis A, Green ED.

Annu Rev Genomics Hum Genet. 2008;9:87-107. doi: 10.1146/annurev.genom.9.081307.164204. Review.

PMID:
18767960
[PubMed - indexed for MEDLINE]
3.

Charcot-Marie-Tooth disease and related inherited neuropathies.

Murakami T, Garcia CA, Reiter LT, Lupski JR.

Medicine (Baltimore). 1996 Sep;75(5):233-50. Review.

PMID:
8862346
[PubMed - indexed for MEDLINE]
4.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
[PubMed - indexed for MEDLINE]
5.

[Genetic diagnosis and molecular pathology of inherited neuropathy].

Takashima H.

Rinsho Shinkeigaku. 2012;52(6):399-404. Review. Japanese.

PMID:
22790800
[PubMed - indexed for MEDLINE]
6.

Lysyl-tRNA synthetase.

Freist W, Gauss DH.

Biol Chem Hoppe Seyler. 1995 Aug;376(8):451-72. Review.

PMID:
7576245
[PubMed - indexed for MEDLINE]
7.

Aminoacyl-tRNA synthetases in medicine and disease.

Yao P, Fox PL.

EMBO Mol Med. 2013 Mar;5(3):332-43. doi: 10.1002/emmm.201100626. Epub 2013 Feb 21. Review.

PMID:
23427196
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Cochlear implantation in a patient with deafness induced by Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathies).

Postelmans JT, Stokroos RJ.

J Laryngol Otol. 2006 Jun;120(6):508-10. Review.

PMID:
16772060
[PubMed - indexed for MEDLINE]
9.

[Hereditary neuropathy: variety of disease-causing genes and progress of molecular genetic diagnosis].

Hashiguchi A, Takashima H.

Brain Nerve. 2011 Jun;63(6):539-48. Review. Japanese.

PMID:
21613657
[PubMed - indexed for MEDLINE]
10.

[From gene to disease; Charcot-Marie-Tooth disease or the hereditary motor and sensory neuropathies].

Verhamme C, Baas F.

Ned Tijdschr Geneeskd. 2005 Jul 2;149(27):1505-9. Review. Dutch.

PMID:
16032995
[PubMed - indexed for MEDLINE]
11.

Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.

Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE.

Am J Med Genet. 2002 Apr 1;108(4):295-303. Review.

PMID:
11920834
[PubMed - indexed for MEDLINE]
12.

[The genetics of type 1 Charcot-Marie-Tooth disease, the hereditary focal neuropathies and the hereditary distal motor neuropathies].

Sevilla T.

Rev Neurol. 2000 Jan 1-15;30(1):71-9. Review. Spanish.

PMID:
10743001
[PubMed - indexed for MEDLINE]
13.

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G; Study Group for Hereditary Neuropathy in Japan.

Brain. 2003 Jan;126(Pt 1):134-51. Review.

PMID:
12477701
[PubMed - indexed for MEDLINE]
Free Article
14.

Update on Charcot-Marie-Tooth disease.

Patzkó A, Shy ME.

Curr Neurol Neurosci Rep. 2011 Feb;11(1):78-88. doi: 10.1007/s11910-010-0158-7. Review.

PMID:
21080241
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Charcot-Marie-tooth disease.

Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G.

Foot Ankle Spec. 2008 Dec;1(6):350-4. doi: 10.1177/1938640008326247. Epub 2008 Oct 22. Review.

PMID:
19825739
[PubMed - indexed for MEDLINE]
16.

Inherited peripheral neuropathy.

Keller MP, Chance PF.

Semin Neurol. 1999;19(4):353-62. Review.

PMID:
10716658
[PubMed - indexed for MEDLINE]

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