(Q36012956)

11 August 2017

1 reference

title

Diagnostic immunohistochemistry in neuromuscular disorders (English)

1 reference

11 August 2017

1 reference

Tews DS

1

1 reference

11 August 2017

Goebel HH

series ordinal

2

1 reference

11 August 2017

publication date

1 January 2005

1 reference

11 August 2017

1 reference

11 August 2017

volume

46

1 reference

11 August 2017

issue

1

1 reference

11 August 2017

page(s)

1-23

1 reference

Immunocytochemical analysis of human muscular dystrophy

11 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Plasma membrane cytoskeleton of muscle: a fine structural analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Prenatal diagnosis of Duchenne and Becker muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

In utero fetal muscle biopsy: a precious aid for the prenatal diagnosis of Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Caveolin-3 deficiency causes muscle degeneration in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Consequences of a novel caveolin-3 mutation in a large German family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Dysferlin is a plasma membrane protein and is expressed early in human development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

The earliest pathologic alterations in dysferlinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Defective membrane repair in dysferlin-deficient muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha7 gene (ITGA7)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Nuclear envelope proteins and associated diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

The nuclear envelope, muscular dystrophy and gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Emery-Dreifuss muscular dystrophy - a 40 year retrospective

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Nuclear lamins: their structure, assembly, and interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

A- and B-type lamins are differentially expressed in normal human tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Myotilin is mutated in limb girdle muscular dystrophy 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

myotilin Mutation found in second pedigree with LGMD1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Muscle assembly: a titanic achievement?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Solution scattering suggests cross-linking function of telethonin in the complex with titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Telethonin protein expression in neuromuscular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Calpainopathy-a survey of mutations and polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

New aspect of the research on limb-girdle muscular dystrophy 2A: a molecular biologic and biochemical approach to pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Deficiency of a 180-kDa extracellular matrix protein in Fukuyama type congenital muscular dystrophy skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Intermediate filament-related myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Surplus protein myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Structural and functional analysis of a new desmin variant causing desmin-related myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

A dysfunctional desmin mutation in a patient with severe generalized myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

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/10.1111%2FJ.1365-2559.2005.02025.X

Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Syncoilin accumulation in two patients with desmin-related myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

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/10.1111%2FJ.1365-2559.2005.02025.X

Familial cardioneuromyopathy with hyaline masses and nemaline rods: a novel phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

"Cap disease"--a failure in the correct muscle fibre formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Skeletal muscle fibers express major histocompatibility complex class II antigens independently of inflammatory infiltrates in inflammatory myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Transient expression of interleukin 2 receptors. Consequences for T cell growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Expression profile of stress proteins, intermediate filaments, and adhesion molecules in experimentally denervated and reinnervated rat facial muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Interleukin-1? expression in capillaries and major histocompatibility complex class I expression in type II muscle fibers from polymyositis and dermatomyositis patients: Important pathogenic features independent of inflammatory cell clusters in muscl

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Exclusion of Identified LGMD1 Loci from Four Dominant Limb-Girdle Muscular Dystrophy Families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery–Dreifuss muscular dystrophy patients and carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

Nebulin expression in patients with nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2559.2005.02025.X

10.1111/J.1365-2559.2005.02025.X

21 January 2018

Identifiers

DOI

1 reference

11 August 2017

1 reference