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Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study
A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with liability to pressure palsies (HNPP) was established to estimate the duplication and deletionExpand
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Myotonic dystrophy: Correlation of clinical symptoms with the size of the CTG trinucleotide repeat
An unstable DNA sequence of a gene encoding a protein kinase has been identified as the molecular basis of myotonic dystrophy. The correlation between different symptoms of myotonic dystrophy and theExpand
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Widespread expression of the peripheral myelin protein‐22 gene (pmp22) in neural and non‐neural tissues during murine development
The gene encoding the peripheral myelin protein PMP22 is affected by various mutations in the hereditary peripheral neuropathies Charcot‐Marie‐Tooth disease type 1A (CMT1A), Déjérine‐Sottas syndromeExpand
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Diagnostic accuracy of plasma glial fibrillary acidic protein for differentiating intracerebral hemorrhage and cerebral ischemia in patients with symptoms of acute stroke.
BACKGROUND Glial fibrillary acidic protein (GFAP) is a biomarker candidate indicative of intracerebral hemorrhage (ICH) in patients with symptoms of acute stroke. GFAP is released rapidly in theExpand
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FISH analysis of interphase nuclei extracted from paraffin-embedded tissue.
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Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
Charcot-Marie-Tooth type 1 disease (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP) are common inherited disorders of the peripheral nervous system. The majority of CMT1Expand
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Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion
A female patient with clinical signs and symptoms of a demyelinating neuropathy was shown to have a duplication of the 1.5-Mb region on chromosome 17p11.2, typical of the great majority of cases ofExpand
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Molecular diagnosis of PMP22-associated neuropathies using fluorescence in situ hybridization (FISH) on archival peripheral nerve tissue preparations
Abstract Charcot-Marie-Tooth (CMT) syndrome type 1 and tomaculous neuropathy, also called hereditary neuropathy with liability to pressure palsies (HNPP), represent two groups of neurologicalExpand
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Multifocal motor neuropathy: Clinical and electrophysiological findings
Multifocal motor neuropathy (MMN) can be differentiated from motor neuron disease by electrophysiological evidence of conduction block. To increase the probability of recording conduction block, weExpand
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