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Functional muscle analysis of the Tcap knockout mouse

Human molecular genetics, 2010-06, Vol.19 (11), p.2268-2283

2010

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Mutations in ACTN4 , encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

Nature genetics, 2000-03, Vol.24 (3), p.251-256

2000

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Molecular profiles of inflammatory myopathies

Neurology, 2002-10, Vol.59 (8), p.1170-1182

2002

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

Neuromuscular disorders : NMD, 2012-07, Vol.22 (7), p.632-639

2012

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A common nonsense mutation results in α-actinin-3 deficiency in the general population

Nature genetics, 1999-04, Vol.21 (4), p.353-354

1999

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Competitive binding of α-actinin and calmodulin to the NMDA receptor

Nature (London), 1997-01, Vol.385 (6615), p.439-442

1997

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Clinical course correlates poorly with muscle pathology in nemaline myopathy

Neurology, 2003-02, Vol.60 (4), p.665-673

2003

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

Neurology, 2002-08, Vol.59 (4), p.613-617

2002

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Large duplication in MTM1 associated with myotubular myopathy

Neuromuscular disorders : NMD, 2013-03, Vol.23 (3), p.214-218

2013

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Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome

Circulation (New York, N.Y.), 1998-01, Vol.97 (2), p.142-146

1998

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Congenital Fibrosis of the Extraocular Muscles Type 2, an Inherited Exotropic Strabismus Fixus, Maps to Distal 11q13

American journal of human genetics, 1998-08, Vol.63 (2), p.517-525

1998

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Acute appendicitis is characterized by a uniform and highly selective pattern of inflammatory gene expression

Mucosal immunology, 2008-07, Vol.1 (4), p.297-308

2008

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Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11

The Journal of biological chemistry, 1992-05, Vol.267 (13), p.9281-9288

1992

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Side Population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers

Experimental cell research, 2005-02, Vol.303 (2), p.360-374

2005

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Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle

Journal of the neurological sciences, 2003-01, Vol.206 (1), p.71-78

2003

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Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies

Human mutation, 2019-07, Vol.40 (7), p.962-974, Article humu.23745

2019

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Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles

Annals of neurology, 1997-03, Vol.41 (3), p.314-325

1997

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The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

American journal of human genetics, 1989-10, Vol.45 (4), p.498-506

1989

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Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias

Circulation (New York, N.Y.), 2001-01, Vol.103 (1), p.89-95

2001

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Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy

Circulation (New York, N.Y.), 1997-05, Vol.95 (10), p.2344-2347

Beggs, A H

1997

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Clinical Phenotype of X‐Linked Myotubular Myopathy in Labrador Retriever Puppies

Journal of veterinary internal medicine, 2015-01, Vol.29 (1), p.254-260

2015

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Dystrophin is Transcribed in Brain from a Distant Upstream Promoter

Proceedings of the National Academy of Sciences - PNAS, 1991-02, Vol.88 (4), p.1276-1280

1991

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Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome

Human genetics, 1998-03, Vol.102 (3), p.265-272

1998

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

Trends in Molecular Medicine, 2001-08, Vol.7 (8), p.362-368

2001

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Differential expression of the actin-binding proteins, α-actinin-2 and -3, in different species : implications for the evolution of functional redundancy

Human molecular genetics, 2001-06, Vol.10 (13), p.1335-1346

2001

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Functional muscle analysis of the Tcap knockout mouse

Mutations in ACTN4 , encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

Molecular profiles of inflammatory myopathies

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

A common nonsense mutation results in α-actinin-3 deficiency in the general population

Competitive binding of α-actinin and calmodulin to the NMDA receptor

Clinical course correlates poorly with muscle pathology in nemaline myopathy

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

Large duplication in MTM1 associated with myotubular myopathy

Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome

Congenital Fibrosis of the Extraocular Muscles Type 2, an Inherited Exotropic Strabismus Fixus, Maps to Distal 11q13

Acute appendicitis is characterized by a uniform and highly selective pattern of inflammatory gene expression

Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11

Side Population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers

Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias

Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy

Clinical Phenotype of X‐Linked Myotubular Myopathy in Labrador Retriever Puppies

Dystrophin is Transcribed in Brain from a Distant Upstream Promoter

Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome

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

Differential expression of the actin-binding proteins, α-actinin-2 and -3, in different species : implications for the evolution of functional redundancy

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