Peripheral nerve disease

Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies
N Vandenberghe, M Upadhyaya, A Gatignol, L Boutrand, M Boucherat, G Chazot, A Vandenberghe, P Latour

Journal of Medical Genetics Dec 2002, 39 (12) e81; DOI: 10.1136/jmg.39.12.e81
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients
E Ars, H Kruyer, M Morell, E Pros, E Serra, A Ravella, X Estivill, C Lázaro

Journal of Medical Genetics Jun 2003, 40 (6) e82; DOI: 10.1136/jmg.40.6.e82
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations
A De Sandre-Giovannoli, M Chaouch, I Boccaccio, R Bernard, V Delague, D Grid, J M Vallat, N Lévy, A Mégarbané

Journal of Medical Genetics Jul 2003, 40 (7) e87; DOI: 10.1136/jmg.40.7.e87
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction
Talya Dor, Yuval Cinnamon, Laure Raymond, Avraham Shaag, Naima Bouslam, Ahmed Bouhouche, Marion Gaussen, Vincent Meyer, Alexandra Durr, Alexis Brice, Ali Benomar, Giovanni Stevanin, Markus Schuelke, Simon Edvardson

Journal of Medical Genetics Feb 2014, 51 (2) 137-142; DOI: 10.1136/jmedgenet-2013-102012
Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1
M Lammert, J M Friedman, H J Roth, R E Friedrich, L Kluwe, D Atkins, T Schooler, V-F Mautner

Journal of Medical Genetics Oct 2006, 43 (10) 810-813; DOI: 10.1136/jmg.2006.041095
A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia
A Cenarro, M Artieda, S Castillo, P Mozas, G Reyes, D Tejedor, R Alonso, P Mata, M Pocoví, F Civeira

Journal of Medical Genetics Mar 2003, 40 (3) 163-168; DOI: 10.1136/jmg.40.3.163
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
D G R Evans, M E Baser, J McGaughran, S Sharif, E Howard, A Moran

Journal of Medical Genetics May 2002, 39 (5) 311-314; DOI: 10.1136/jmg.39.5.311

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Peripheral nerve disease

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