Shy ME - Search Results

1

A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.

Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles E, Reilly MM, Shy ME, Zuchner S. Rebelo AP, et al. Among authors: shy me. Brain. 2021 May 7;144(4):1197-1213. doi: 10.1093/brain/awab019. Brain. 2021. PMID: 33889941 Free PMC article.

2

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.

3

Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME. Krajewski KM, et al. Among authors: shy me. Brain. 2000 Jul;123 ( Pt 7):1516-27. doi: 10.1093/brain/123.7.1516. Brain. 2000. PMID: 10869062 Clinical Trial.

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

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.

7

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F. Pedrola L, et al. Among authors: shy me. Hum Mol Genet. 2005 Apr 15;14(8):1087-94. doi: 10.1093/hmg/ddi121. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772096

8

Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside.

Li J, Bai Y, Ghandour K, Qin P, Grandis M, Trostinskaia A, Ianakova E, Wu X, Schenone A, Vallat JM, Kupsky WJ, Hatfield J, Shy ME. Li J, et al. Among authors: shy me. Brain. 2005 May;128(Pt 5):1168-77. doi: 10.1093/brain/awh483. Epub 2005 Mar 17. Brain. 2005. PMID: 15774502

9

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.

Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR. Saifi GM, et al. Among authors: shy me. Hum Mutat. 2005 Apr;25(4):372-83. doi: 10.1002/humu.20153. Hum Mutat. 2005. PMID: 15776429

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

253 results

Search Page