Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes (Q44551626)

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scientific article published in September 2003

Language	Label	Description	Also known as
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

Statements

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)

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Europe PubMed Central

PubMed publication ID

4 December 2017

Hereditary inclusion body myopathy

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inferred from title

Virginia Kimonis

5

object named as

Virginia E Kimonis

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Europe PubMed Central

PubMed publication ID

4 December 2017

author name string

Giles D J Watts

1

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Europe PubMed Central

PubMed publication ID

4 December 2017

M Thorne

2

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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

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Europe PubMed Central

PubMed publication ID

4 December 2017

publication date

1 September 2003

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Europe PubMed Central

PubMed publication ID

4 December 2017

Neuromuscular Disorders

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Europe PubMed Central

PubMed publication ID

4 December 2017

13

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4 December 2017

7-8

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4 December 2017

559-567

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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

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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

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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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

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

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

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

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

1 reference

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

1 reference

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

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Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy

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

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

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Luman, a New Member of the CREB/ATF Family, Binds to Herpes Simplex Virus VP16-Associated Host Cellular Factor

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

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

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

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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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