References for disease Charcot-Marie-Tooth disease type 2E

All publications related to disease Charcot-Marie-Tooth disease type 2E. To link directly to a specific first author surname click on the required letter below.

ACDFKZ

A

Andrigo C, Boito C, Prandini P, Mostacciuolo ML, Siciliano G, Angelini C, Pegoraro E
A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E.
Neurogenetics 2005 6(1) 49-50 PubMed: 15654615

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C

Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK, Chung KW
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Hum Mutat 2004 24(2) 185-186 PubMed: 15241803

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D

De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
Ann Neurol 2001 49(2) 245-249 PubMed: 11220745

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F

Fabrizi GM, Cavallaro T, Angiari C, Bertolasi L, Cabrini I, Ferrarini M, Rizzuto N
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.
Neurology 2004 62(8) 1429-1431 PubMed: 15111691

Fabrizi GM, Cavallaro T, Angiari C, Cabrini I, Taioli F, Malerba G, Bertolasi L, Rizzuto N
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
Brain 2007 130(Pt 2) 394-403 PubMed: 17052987

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K

Kabzińska D, Perez-Olle R, Goryunov D, Drac H, Ryniewicz B, Hausmanowa-Petrusewicz I, Kochański A, Liem RK
Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.
J Peripher Nerv Syst 2006 11(3) 225-231 PubMed: 16930284

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Z

Züchner S, Vorgerd M, Sindern E, Schröder JM
The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
Neuromuscul Disord 2004 14(2) 147-157 PubMed: 14733962

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This page was last modified: April 17 2009 14:28:35.