A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes (Q44943253)

7 December 2017

A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes (English)

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hereditary neuropathy with liability to pressure palsies

7 December 2017

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Paschalis Nicolaou

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Kyproula Christodoulou

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Kyproula Christodoulou

Eleftherios Papathanasiou

7

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Eleftherios Papathanasiou

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author name string

Kleopas A Kleopa

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7 December 2017

Domna-Maria Georgiou

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7 December 2017

Pantelitsa Koutsou

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7 December 2017

Theodoros Kyriakides

6

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7 December 2017

17 June 2004

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7 December 2017

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7 December 2017

5

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7 December 2017

3

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7 December 2017

171-175

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https://scigraph.springernature.com/pub.10.1007/s10048-004-0184-1

7 December 2017

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cites work

Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.

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12 December 2020

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

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12 December 2020

PMP22 Thr118Met is not a clinically relevant CMT1 marker

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12 December 2020

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

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12 December 2020

Deletions of chromosome 17p11.2 in multifocal neuropathies

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A

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12 December 2020

Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies

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12 December 2020

PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?

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12 December 2020

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

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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

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12 December 2020

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

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12 December 2020

Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies

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12 December 2020

Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name

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12 December 2020

Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies

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12 December 2020

A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts

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12 December 2020

Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy

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12 December 2020

HNPP due to a novel missense mutation of the PMP22 gene

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12 December 2020

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

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12 December 2020

Conduction block in hereditary neuropathy with susceptibility to pressure palsies

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12 December 2020

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

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12 December 2020

Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction

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12 December 2020

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

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12 December 2020

Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene

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12 December 2020

Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies

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12 December 2020

Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy.

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12 December 2020

10.1007/S10048-004-0184-1

Identifiers

DOI

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7 December 2017

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