(Q58184616)

1

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Antonio García

2

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Onofre Combarros

3

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José I. Mateo

4

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José Berciano

5

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María J. Sedano

6

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Eduardo J. Gutiérrez-Rivas

Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies

7

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publication date

2 August 2001

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published in

Muscle and Nerve

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volume

24

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issue

9

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page(s)

1149-1155

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cites work

1 reference

Respiratory insufficiency in a patient with hereditary neuropathy with liability to pressure palsy

21 January 2018

1 reference

Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects.

21 January 2018

1 reference

Clinical, genetic and electrophysiologic correlation in hereditary neuropathy with liability to pressure palsies with involvement of PMP22 gene at chromosome 17p11.2

21 January 2018

1 reference

Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions.

21 January 2018

1 reference

Recurrent polyradiculoneuropathy with the 17p11.2 deletion.

21 January 2018

1 reference

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

21 January 2018

1 reference

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

21 January 2018

1 reference

Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

21 January 2018

1 reference

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent

21 January 2018

1 reference

Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2.

21 January 2018

1 reference

Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study

21 January 2018

1 reference

Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion

21 January 2018

1 reference

Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1

21 January 2018

1 reference

Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. The French CMT Collaborative Research Group

21 January 2018

1 reference

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

21 January 2018

1 reference

Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion

21 January 2018

1 reference

A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings

21 January 2018

1 reference

Conduction block in hereditary neuropathy with susceptibility to pressure palsies

21 January 2018

1 reference

Deletions of chromosome 17p11.2 in multifocal neuropathies

21 January 2018

1 reference

Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication

21 January 2018

1 reference

Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and morphological study

21 January 2018

1 reference

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference