(Q44551626)

English

Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes

scientific article published in September 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Hereditary inclusion body myopathy

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based on heuristic

inferred from title

Virginia Kimonis

5

object named as

Virginia E Kimonis

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

author name string

Giles D J Watts

1

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

M Thorne

2

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

M J Kovach

3

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

A Pestronk

4

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

publication date

1 September 2003

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Neuromuscular Disorders

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

13

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Europe PubMed Central

PubMed publication ID

4 December 2017

7-8

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

559-567

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900070-1

7 January 2021

based on heuristic

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Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900070-1

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900070-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900070-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900070-1

7 January 2021

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

1 reference

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Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I

1 reference

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Analysis of smu-1, a gene that regulates the alternative splicing of unc-52 pre-mRNA in Caenorhabditis elegans

1 reference

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Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

1 reference

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7 January 2021

based on heuristic

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Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

1 reference

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7 January 2021

based on heuristic

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Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900070-1

7 January 2021

based on heuristic

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Paget's disease and muscular dystrophy. Report of an unusual association in one family

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900070-1

7 January 2021

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Dystrophia myotonica associated with familial Paget's disease (osteitis deformans) with sarcomata

1 reference

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7 January 2021

based on heuristic

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Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900070-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Localisation of the human gene encoding the cytoskeletal protein talin to chromosome 9p

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900070-1

7 January 2021

based on heuristic

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Characterization of the human talin (TLN) gene: genomic structure, chromosomal localization, and expression pattern

1 reference

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7 January 2021

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Luman, a new member of the CREB/ATF family, binds to herpes simplex virus VP16-associated host cellular factor

1 reference

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7 January 2021

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Chromosomal location and some structural features of human clathrin light-chain genes (CLTA and CLTB)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900070-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular cloning and characterization of the human interleukin-11 receptor alpha-chain gene, IL11RA, located on chromosome 9p13

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900070-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation and characterization of a novel cDNA, UBAP1, derived from the tumor suppressor locus in human chromosome 9p21-22.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900070-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(03)00070-1

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

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