(Q36022226)

11 August 2017

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title

Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy (English)

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distal muscular dystrophy

11 August 2017

main subject

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Ikuya Nonaka

1

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11 August 2017

Satoru Noguchi

series ordinal

2

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11 August 2017

Ichizo Nishino

series ordinal

3

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11 August 2017

publication date

1 February 2005

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Current Neurology and Neuroscience Reports

11 August 2017

published in

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11 August 2017

volume

5

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11 August 2017

issue

1

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11 August 2017

page(s)

61-65

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Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene

11 August 2017

cites work

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https://api.crossref.org/works/10.1007%2FS11910-005-0025-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0025-0

Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0025-0

Hereditary inclusion body myopathy: the Middle Eastern genetic cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-005-0025-0

VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration

21 January 2018

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12 December 2020

Dominant inheritance of sialuria, an inborn error of feedback inhibition

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12 December 2020

A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees

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12 December 2020

Muscle fiber degeneration in distal myopathy with rimmed vacuole formation

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12 December 2020

Nuclear and cytoplasmic glycosylation.

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12 December 2020

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

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12 December 2020

Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles

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12 December 2020

Vacuole-creating protein in neurodegenerative diseases in humans

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12 December 2020

Distal myopathy with rimmed vacuoles

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12 December 2020

Sialylation is essential for early development in mice

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12 December 2020

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

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12 December 2020

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

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12 December 2020

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

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12 December 2020

GNE mutations causing distal myopathy with rimmed vacuoles with inflammation

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12 December 2020

New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myopathies

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12 December 2020

Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme

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12 December 2020

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.

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12 December 2020

Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9

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12 December 2020

Abnormal increases of lysosomal cysteinine proteinases in rimmed vacuoles in the skeletal muscle

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12 December 2020

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

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12 December 2020

Proteasomes in distal myopathy with rimmed vacuoles

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12 December 2020

Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

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12 December 2020

A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins

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12 December 2020

Distal myopathy: histochemical and ultrastructural studies

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12 December 2020

Distal myopathy with rimmed vacuole formation. A follow-up study

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12 December 2020

Glycosylation of nucleocytoplasmic proteins: signal transduction and O-GlcNAc

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12 December 2020

Autophagic vacuolar myopathies

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12 December 2020

Apoptotic muscle fiber degeneration in distal myopathy with rimmed vacuoles

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12 December 2020

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12 December 2020

The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy

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12 December 2020

Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: current concepts of diagnosis and pathogenesis

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12 December 2020

Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation

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12 December 2020

Hereditary inclusion body myopathy maps to chromosome 9p1-q1

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12 December 2020

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12 December 2020

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy

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12 December 2020

10.1007/S11910-005-0025-0

Identifiers

DOI

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11 August 2017

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