Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis (Q33679699)

28 July 2017

title

Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis (English)

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hereditary neuropathy with liability to pressure palsies

28 July 2017

main subject

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author name string

M Sessa

1

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28 July 2017

R Nemni

2

1 reference

28 July 2017

A Quattrini

3

1 reference

28 July 2017

U Del Carro

4

1 reference

28 July 2017

L Wrabetz

5

1 reference

28 July 2017

N Canal

6

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28 July 2017

language of work or name

English

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publication date

1 November 1997

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

34

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28 July 2017

issue

11

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28 July 2017

page(s)

889-892

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Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative

28 July 2017

cites work

1 reference

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Clinical spectrum of the tomaculous neuropathies. Report of 60 cases and review of the literature

21 June 2018

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A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies

21 June 2018

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Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

21 June 2018

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The nature of the nerve lesion caused by chronic entrapment in the guinea-pig

21 June 2018

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

21 June 2018

1 reference

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Globular neuropathy. A disorder of axons and Schwann cells

21 June 2018

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Sub-clinical entrapment neuropathy in man

21 June 2018

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Recurrent familiar polyneuropathy with liability to pressure palsies. Special regards to electrophysiological aspects of twenty five members from seven families

21 June 2018

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The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies

21 June 2018

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Experimental allergic neuritis. Ultrastructure of serum-induced myelin aberrations in peripheral nervous system cultures

21 June 2018

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DNA deletion associated with hereditary neuropathy with liability to pressure palsies

21 June 2018

1 reference

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Evidence of peripheral axonal neuropathy in primary restless legs syndrome

30 October 2018

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A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

30 October 2018

1 reference

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

30 October 2018

1 reference

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[A family with hereditary neuropathy with liability to pressure palsies--clinical, electrophysiological, pathological study and DNA analysis]

30 October 2018

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12 December 2020

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

1 reference

12 December 2020

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1 reference

12 December 2020

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

1 reference

12 December 2020

DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

HEREDITARY NEUROPATHY, WITH LIABILITY TO PRESSURE PALSIES; A CLINICAL AND ELECTROPHYSIOLOGICAL STUDY OF FOUR FAMILIES

1 reference

12 December 2020

[Hypermyelination in a case of peripheral neuropathy with benign IgM monoclonal gammopathy]

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1

1 reference

12 December 2020

Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a

1 reference

12 December 2020

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)

1 reference

12 December 2020

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

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

1 reference

12 December 2020

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.11.889

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28 July 2017

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28 July 2017

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