Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy

PF Chance - Neuromolecular medicine, 2006 - Springer
Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous
neuropathy) is an autosomal-dominant disorder that produces a painless episodic …

Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11. 2 deletion

P Mouton, S Tardieu, R Gouider, N Birouk… - Neurology, 1999 - AAN Enterprises
Objective: To study the clinical and electrophysiologic features of a large series of carriers of
the 17p11. 2 deletion. Background: The 17p11. 2 deletion is associated in most patients with …

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to …

S Bort, E Nelis, V Timmerman, T Sevilla… - Human genetics, 1997 - Springer
Abstract Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to
pressure palsies (HNPP) are two inherited peripheral neuropathies. The most prevalent …

Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.

PP Lenssen, AA Gabreels-Festen… - Brain: a journal of …, 1998 - academic.oup.com
In six families with hereditary neuropathy with liability to pressure palsies (HNPP) the 17p11.
2 deletion was absent, but single strand conformation-analysis and subsequent sequencing …

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness

MJ Kovach, JP Lin, S Boyadjiev, K Campbell… - The American Journal of …, 1999 - cell.com
Summary Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the
genetically heterogeneous group of CMT disorders. Molecular studies in a large family with …

Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis

SR Beydoun, J Cho - Journal of Clinical Neuromuscular Disease, 2013 - journals.lww.com
Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited autosomal
dominant disorder that causes a polyneuropathy with predisposition for involvement at sites …

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

H Zephir, T Stojkovic, P Latour, JF Hurtevent… - Neuromuscular …, 2005 - Elsevier
Hereditary neuropathy with liability to pressure palsies is usually due to PMP22 deletion.
Point mutations of PMP22 causing an hereditary neuropathy with liability to pressure palsies …

Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t (16; 17)(q12; p11. 2) interrupting thePMP22 gene

M Nadal, A Valiente, A Domenech… - Journal of Medical …, 2000 - jmg.bmj.com
EDITOR—Deficiency of phosphorylase kinase (Phk), a regulatory protein kinase in glycogen
metabolism, is the most frequent cause of hepatic glycogen storage disease (GSD). Patients …

Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease

G Koutsis, A Pandraud, JM Polke, NW Wood, M Panas… - Brain, 2012 - academic.oup.com
Sir, We read with interest the paper by Taioli et al.(2011) reporting eight different
micromutations of PMP22 in patients with inherited demyelinating neuropathies. Small …

[PDF][PDF] Terminal latency index (TLI) abnormalities in hereditary neuropathy with liability to pressure palsies (HNPP)

A Jacquin-Piques, C Thauvin-Robinet… - J Neurol …, 2015 - scholar.archive.org
Abstract Introduction: The diagnosis of Hereditary Neuropathy with Liability to Pressure
Palsy (HNPP) is frequently missed or delayed because of its clinical and …