Shy ME - Search Results

1

Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability.

Burns J, Ouvrier R, Estilow T, Shy R, Laurá M, Pallant JF, Lek M, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS. Burns J, et al. Among authors: shy r, shy me. Ann Neurol. 2012 May;71(5):642-52. doi: 10.1002/ana.23572. Ann Neurol. 2012. PMID: 22522479 Free PMC article.

2

Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease.

Pareyson D, Menichella D, Botti S, Sghirlanzoni A, Fallica E, Mora M, Ciano C, Shy ME, Taroni F. Pareyson D, et al. Among authors: shy me. Ann N Y Acad Sci. 1999 Sep 14;883:477-80. Ann N Y Acad Sci. 1999. PMID: 10586278 No abstract available.

3

Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy.

Kamholz J, Menichella D, Jani A, Garbern J, Lewis RA, Krajewski KM, Lilien J, Scherer SS, Shy ME. Kamholz J, et al. Among authors: shy me. Brain. 2000 Feb;123 ( Pt 2):222-33. doi: 10.1093/brain/123.2.222. Brain. 2000. PMID: 10648431 Review.

4

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

Paulson HL, Garbern JY, Hoban TF, Krajewski KM, Lewis RA, Fischbeck KH, Grossman RI, Lenkinski R, Kamholz JA, Shy ME. Paulson HL, et al. Among authors: shy me. Ann Neurol. 2002 Oct;52(4):429-34. doi: 10.1002/ana.10305. Ann Neurol. 2002. PMID: 12325071

5

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. Jordanova A, et al. Brain. 2003 Mar;126(Pt 3):590-7. doi: 10.1093/brain/awg059. Brain. 2003. PMID: 12566280

6

Phenotypic clustering in MPZ mutations.

Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J. Shy ME, et al. Among authors: shy rr. Brain. 2004 Feb;127(Pt 2):371-84. doi: 10.1093/brain/awh048. Epub 2004 Jan 7. Brain. 2004. PMID: 14711881 Review.

7

Charcot-Marie-Tooth disease: an update.

Shy ME. Shy ME. Curr Opin Neurol. 2004 Oct;17(5):579-85. doi: 10.1097/00019052-200410000-00008. Curr Opin Neurol. 2004. PMID: 15367862 Review.

8

Reliability and validity of the CMT neuropathy score as a measure of disability.

Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, Li J, Lewis RA, Reilly M. Shy ME, et al. Neurology. 2005 Apr 12;64(7):1209-14. doi: 10.1212/01.WNL.0000156517.00615.A3. Neurology. 2005. PMID: 15824348 Clinical Trial.

9

Charcot-Marie-Tooth disease impairs quality of life: why? And how do we improve it?

Shy ME, Rose MR. Shy ME, et al. Neurology. 2005 Sep 27;65(6):790-1. doi: 10.1212/01.wnl.0000181027.21574.df. Neurology. 2005. PMID: 16186514 No abstract available.

10

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.

Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, Kolodny E, Szigeti K, Fischer RA, Saifi GM, Scherer SS, Lupski JR. Shy ME, et al. Ann Neurol. 2006 Feb;59(2):358-64. doi: 10.1002/ana.20777. Ann Neurol. 2006. PMID: 16437560

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