Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments (Q34343417)

1 August 2017

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title

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

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1 August 2017

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Sanoudou D

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1 August 2017

Beggs AH

series ordinal

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1 August 2017

publication date

1 August 2001

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Trends in Molecular Medicine

1 August 2017

published in

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

362-368

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

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Nemaline myopathy: a clinical study of 143 cases

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Fetal akinesia sequence caused by nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Nemaline myopathy appearing in adults as cardiomyopathy. A clinicopathologic study

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

The N-terminal end of nebulin interacts with tropomodulin at the pointed ends of the thin filaments.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Molecular diversity of myofibrillar proteins: gene regulation and functional significance

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Adult-onset rod disease with abundant intranuclear rods

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Intranuclear rods in severe congenital nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Infantile intranuclear rod myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Congenital nemaline myopathy. I. Defective organization of ?-actinin is restricted to muscle

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Nemaline myopathy rod bodies. Structure and composition

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

The three-dimensional structure of the nemaline rod Z-band

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Experimental core-like lesions and nemaline rods. A correlative morphological and physiological study

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Neostigmine myopathy is a calcium ion-mediated myopathy initially affecting the motor end-plate

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Skeletal muscle involvement in HIV-infected patients

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Erratum: Corrigendum: A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Congenital myopathy with excess of thin myofilaments

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Exclusion of two candidate loci for autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Assignment of the human skeletal muscle alpha-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

Assignment of the human alpha-tropomyosin gene TPM4 to band 19p13.1 by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2801%2902089-5

7 January 2021

10.1016/S1471-4914(01)02089-5

Identifiers

DOI

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1 August 2017

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