Molecular Genetics of Nemaline Myopathy (Q57394322)

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Sporadic late onset nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Actin mutations are one cause of congenital fibre type disproportion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

When contractile proteins go bad: the sarcomere and skeletal muscle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Clinical approach to the diagnosis of congenital myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Nemaline myopathy caused by absence of alpha-skeletal muscle actin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Mutations in RYR1 in malignant hyperthermia and central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Clinical course correlates poorly with muscle pathology in nemaline myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Nemaline myopathy: a clinical study of 143 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Distal myopathy caused by homozygous missense mutations in the nebulin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Genotype?phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle ?-actin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

What's new in congenital myopathies?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Consensus statement on standard of care for congenital myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F9780470015902.A0024341