Associated Papers
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Vissers LELM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
van Paassen BW et al.
Orphanet Journal of Rare Diseases, 2014
The phenotype of the Gly94fsX222 PMP22 insertion.
de Vries SD et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
Taioli F et al.
Brain : a Journal of Neurology, 2011
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
Miltenberger-Miltenyi G et al.
European Journal of Human Genetics : Ejhg, 2009
A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.
Zéphir H et al.
Neuromuscular Disorders : Nmd, 2005
[Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].
Pou Serradell A et al.
Revue Neurologique, 2002
A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.
Meuleman J et al.
Neuromuscular Disorders : Nmd, 2001
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