(Q35488414)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

title

Giant axonal neuropathy: clinical and genetic study in six cases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Pascale Guicheney

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

author name string

E Demir

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

P Bomont

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

S Erdem

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

L Cavalier

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

G Kose

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

S Muftuoglu

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

A N Cakar

8

1 reference

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11 January 2020

E Tan

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

S Aysun

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

M Topcu

11

1 reference

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11 January 2020

M Koenig

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

H Topaloglu

14

1 reference

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11 January 2020

language of work or name

English

0 references

publication date

1 June 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neurology, Neurosurgery and Psychiatry

11 January 2020

published in

1 reference

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11 January 2020

volume

76

1 reference

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11 January 2020

issue

6

1 reference

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11 January 2020

page(s)

825-832

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

Identification of seven novel mutations in the GAN gene.

11 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Characterization of Mayven, a novel actin-binding protein predominantly expressed in brain

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Novel features of the light chain of microtubule-associated protein MAP1B: microtubule stabilization, self interaction, actin filament binding, and regulation by the heavy chain

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Localization of the giant axonal neuropathy gene to chromosome 16q24.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Drosophila kelch is an oligomeric ring canal actin organizer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant axonal neuropathy. Endocrinological and histological studies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant axonal disease: report of three cases and review of the literature

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant axonal neuropathy: observations on a further patient

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant axonal neuropathy. A review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant axonal neuropathy and leukodystrophy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant axonal neuropathy in 2 siblings: a generalized disorder of intermediate filaments

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant axonal neuropathy: progressive clinical and radiologic CNS involvement

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant Axonal Neuropathy with Predominant Central Nervous System Manifestations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Generalized Giant Axonal Neuropathy – A Case with Features of Fazio-Londe Disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant axonal neuropathy. Report of a case with normal hair

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant Axonal Neuropathy—A Generalized Disorder of Cytoplasmic Microfilament Formation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant axonal neuropathy: A clinical entity affecting the central as well as the peripheral nervous system

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant axonal neuropathy locus refinement to a < 590 kb critical interval

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant axonal neuropathy with subclinical involvement of the central nervous system: case report.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Cavum septi pellucidi and cavum vergae in normal and developmentally delayed populations

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

ENC-1: a novel mammalian kelch-related gene specifically expressed in the nervous system encodes an actin-binding protein.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant axonal neuropathy: report of two siblings with endocrinological and histological studies.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739689

Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred

26 September 2018

1 reference

12 December 2020

Giant axonal neuropathy: report on a case with focal fiber loss

1 reference

12 December 2020

Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair

1 reference

12 December 2020

Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization

1 reference

12 December 2020

Clinical and molecular findings in patients with giant axonal neuropathy (GAN)

1 reference

12 December 2020

Giant axonal neuropathy

1 reference

12 December 2020

Giant axonal neuropathy--a unique case with segmental neurofilamentous masses

1 reference

12 December 2020

Giant axonal neuropathy. A neuropathological study

1 reference

12 December 2020

Giant axonal neuropathy: correlation of clinical findings with postmortem neuropathology

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.2003.035162

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15897506%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

PubMed publication ID

15897506

1 reference