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All publications related to disease Charcot-Marie-Tooth disease type 2. To link directly to a specific first author surname click on the required letter below.
DGLMW D Duparc A, Cintas P, Somody E, Bieth E, Richard P, Maury P, Delay M
A cardio-neurological form of laminopathy: dilated cardiomyopathy with permanent partial atrial standstill and axonal neuropathy.
Pacing Clin Electrophysiol 2009 32(3) 410-415 PubMed: 19272076 Back to index G Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T, Christodoulou K
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
Neurogenetics 2002 4(2) 93-96 PubMed: 12481988 Back to index L Leung CL, Nagan N, Graham TH, Liem RK
A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.
Am J Med Genet A 2006 140(9) 1021-1025 PubMed: 16619203 Back to index M Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
Am J Hum Genet 2000 67(1) 37-46 PubMed: 10841809 Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Arch Neurol 2007 64(7) 966-970 PubMed: 17620486 Back to index W Walter MC, Witt TN, Weigel BS, Reilich P, Richard P, Pongratz D, Bonne G, Wehnert MS, Lochmüller H
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.
Neuromuscul Disord 2005 15(1) 40-44 PubMed: 15639119 Back to index This page was last modified: April 17 2009 14:28:35. |
