(Q70829413)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8538664%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

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

1 reference

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14 October 2019

author name string

A A Amato

1

1 reference

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14 October 2019

G S Gronseth

2

1 reference

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14 October 2019

K J Callerame

3

1 reference

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14 October 2019

K S Kagan-Hallet

4

1 reference

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14 October 2019

W W Bryan

5

1 reference

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14 October 2019

R J Barohn

6

1 reference

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14 October 2019

publication date

1 January 1996

1 reference

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14 October 2019

1 reference

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14 October 2019

volume

19

1 reference

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14 October 2019

issue

1

1 reference

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14 October 2019

page(s)

16-22

1 reference

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

14 October 2019

cites work

1 reference

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DNA deletion associated with hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

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Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

21 January 2018

1 reference

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Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders

21 January 2018

1 reference

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Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths.

21 January 2018

1 reference

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Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities

21 January 2018

1 reference

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Distal accentuation of conduction slowing in polyneuropathy associated with antibodies to myelin-associated glycoprotein and sulphated glucuronyl paragloboside

21 January 2018

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

21 January 2018

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DNA duplication associated with Charcot-Marie-Tooth disease type 1A

21 January 2018

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Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

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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 January 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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding

21 January 2018

1 reference

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Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

21 January 2018

1 reference

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Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

21 January 2018

1 reference

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Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

21 January 2018

1 reference

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Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

21 January 2018

1 reference

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Presentation and initial clinical course in patients with chronic inflammatory demyelinating polyradiculoneuropathy: comparison of patients without and with monoclonal gammopathy

21 January 2018

1 reference

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Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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10.1002/(SICI)1097-4598(199601)19:1<16::AID-MUS3>3.0.CO;2-B

21 January 2018

Identifiers

DOI

0 references

1 reference