(Q33418112)

26 July 2017

title

Nationwide patient registry for GNE myopathy in Japan (English)

1 reference

26 July 2017

1 reference

1 reference

En Kimura

8

0 references

Ichizo Nishino

object named as

Ichizo Nishino

series ordinal

7

0 references

Naohiro Yonemoto

series ordinal

3

object named as

Naohiro Yonemoto

1 reference

26 July 2017

Madoka Mori-Yoshimura

series ordinal

1

object named as

Madoka Mori-Yoshimura

1 reference

26 July 2017

4

Harumasa Nakamura

1 reference

26 July 2017

5

Miho Murata

1 reference

26 July 2017

6

Shin'ichi Takeda

1 reference

26 July 2017

Yukiko K Hayashi

2

1 reference

26 July 2017

publication date

11 October 2014

1 reference

Orphanet Journal of Rare Diseases

26 July 2017

published in

1 reference

26 July 2017

volume

9

1 reference

26 July 2017

page(s)

150

1 reference

Creative Commons Attribution 4.0 International

26 July 2017

copyright license

start time

11 October 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

GNE myopathy: current update and future therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203883

Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203883

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203883

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203883

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203883

Prevalence of lifestyle risk factors in myotonic dystrophy type 1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203883

Patient Registries: Utility, Validity and Inference

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203883

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203883

Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203883

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203883

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203883

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203883

UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203883

"Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0150-4

Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0150-4

GNE myopathy: a prospective natural history study of disease progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0150-4

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0150-4

Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25303967

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Electrokinetic behaviour and surface sialic acid status of blood platelets in essential thrombocythaemia (ET)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25303967

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Report on the Second Endocrine Aspects Of Duchenne Muscular Dystrophy Conference December 1-2, 2010, Baltimore, Maryland, USA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25303967

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13023-014-0150-4

1 reference

Dimensions Publication ID

26 July 2017

0 references

1 reference

26 July 2017

1 reference