Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods (Q73755133)

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6 November 2019

title

Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods (English)

1 reference

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6 November 2019

author name string

R Schröder

1

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6 November 2019

J Reimann

2

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6 November 2019

P Salmikangas

3

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6 November 2019

C S Clemen

4

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6 November 2019

Y K Hayashi

5

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6 November 2019

I Nonaka

6

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6 November 2019

K Arahata

7

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6 November 2019

O Carpén

8

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6 November 2019

publication date

1 August 2003

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6 November 2019

published in

Neuromuscular Disorders

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6 November 2019

volume

13

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6 November 2019

issue

6

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6 November 2019

page(s)

451-455

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Myotilin is mutated in limb girdle muscular dystrophy 1A

6 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900064-6

7 January 2021

myotilin Mutation found in second pedigree with LGMD1A

1 reference

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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

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7 January 2021

Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy

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7 January 2021

Characterization of palladin, a novel protein localized to stress fibers and cell adhesions

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7 January 2021

The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system

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7 January 2021

Characterization of human palladin, a microfilament-associated protein

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7 January 2021

Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900064-6

7 January 2021

Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly

1 reference

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7 January 2021

Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods

1 reference

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7 January 2021

Nebulin expression in patients with nemaline myopathy

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7 January 2021

Nemaline myopathy with intranuclear rods--intranuclear rod myopathy

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7 January 2021

Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human skeletal muscle

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7 January 2021

Early and selective disappearance of telethonin protein from the sarcomere in neurogenic atrophy

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7 January 2021

Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A.

1 reference

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7 January 2021

Patterns of abnormal protein expression in target formations and unstructured cores

1 reference

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7 January 2021

Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy

1 reference

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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

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7 January 2021

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

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7 January 2021

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

1 reference

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7 January 2021

10.1016/S0960-8966(03)00064-6

Identifiers

DOI

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6 November 2019

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