(Q47280361)

13 January 2018

title

Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene (English)

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13 January 2018

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Sylvia L Anderson

1

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13 January 2018

Josef Ekstein

2

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13 January 2018

Mary C Donnelly

3

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13 January 2018

Erin M Keefe

4

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13 January 2018

Nicole R Toto

5

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13 January 2018

Lauretta A LeVoci

6

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13 January 2018

Berish Y Rubin

7

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13 January 2018

publication date

23 June 2004

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13 January 2018

published in

Human Genetics

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13 January 2018

volume

115

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13 January 2018

issue

3

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13 January 2018

page(s)

185-190

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13 January 2018

https://scigraph.springernature.com/pub.10.1007/s00439-004-1140-8

exact match

0 references

cites work

109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands.

1 reference

12 December 2020

Assignment of the human a-tropomyosin gene TPM3 to 1q22-->q23 by fluorescence in situ hybridisation

1 reference

12 December 2020

Molecular contacts between nebulin and actin: cross-linking of nebulin modules to the N-terminus of actin

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12 December 2020

LIGHT AND ELECTRON MICROSCOPIC STUDIES OF "MYOGRANULES" IN A CHILD WITH HYPOTONIA AND MUSCLE WEAKNESS

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12 December 2020

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

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12 December 2020

Reexamination of chromosomal loci of human muscle actin genes by fluorescence in situ hybridization

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12 December 2020

Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy

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12 December 2020

Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation

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12 December 2020

Fine mapping of five human skeletal muscle genes: alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch, troponin-I fast-twitch, and troponin-C fast

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12 December 2020

Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy

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12 December 2020

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

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12 December 2020

Architecture of the thin filament-Z-line junction: lessons from nebulette and nebulin homologies.

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12 December 2020

The Dor Yeshorim story: community-based carrier screening for Tay-Sachs disease

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12 December 2020

Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population

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12 December 2020

Nemaline myopathy: a clinical study of 143 cases

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12 December 2020

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

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12 December 2020

Familial dysautonomia is caused by mutations of the IKAP gene

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12 December 2020

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

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12 December 2020

Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments

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12 December 2020

The complete primary structure of human nebulin and its correlation to muscle structure

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12 December 2020

Nebulin expression in patients with nemaline myopathy

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12 December 2020

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

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12 December 2020

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

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12 December 2020

Nebulin mutations in autosomal recessive nemaline myopathy: an update

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12 December 2020

Human skeletal muscle nebulin sequence encodes a blueprint for thin filament architecture. Sequence motifs and affinity profiles of tandem repeats and terminal SH3.

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12 December 2020

A new guide to the human genome

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12 December 2020

Tay-Sachs disease screening and counseling families at risk for metabolic disease

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12 December 2020

Protein classification by stochastic modeling and optimal filtering of amino-acid sequences.

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12 December 2020

40th ENMC Sponsored International Workshop: Nemaline Myopathy. 2-4 February 1996, Naarden, The Netherlands

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12 December 2020

Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

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12 December 2020

Structural analysis based on state-space modeling

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12 December 2020

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

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12 December 2020

Nebulin is a full-length template of actin filaments in the skeletal muscle sarcomere: an immunoelectron microscopic study of its orientation and span with site-specific monoclonal antibodies

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12 December 2020

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene

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12 December 2020

Assignment of the human slow skeletal troponin T gene to 19q13.4 using somatic cell hybrids and fluorescence in situ hybridization analysis

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12 December 2020

Correlation Between Conformational and Binding Properties of Nebulin Repeats

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12 December 2020

Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population

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12 December 2020

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

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12 December 2020

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

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12 December 2020

Nebulin as a length regulator of thin filaments of vertebrate skeletal muscles: correlation of thin filament length, nebulin size, and epitope profile

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12 December 2020

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

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12 December 2020

Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model

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12 December 2020

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

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12 December 2020

Evidence that nebulin is a protein-ruler in muscle thin filaments

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12 December 2020

10.1007/S00439-004-1140-8

Identifiers

DOI

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13 January 2018

PubMed ID

15221447

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13 January 2018