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Core-rod myopathy caused by mutations in the nebulin gene

Neurology, 2009-10, Vol.73 (14), p.1159-1161

2009

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Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Acta neuropathologica communications, 2019-03, Vol.7 (1), p.30-30, Article 30

2019

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Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

European journal of neurology, 2018-06, Vol.25 (6), p.841-847

2018

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Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

Neurology, 2012-04, Vol.78 (14), p.1100-1103

2012

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Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

Neuromuscular disorders : NMD, 2012-12, Vol.22 (12), p.1096-1104

2012

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Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

Journal of neurology, neurosurgery and psychiatry, 2006-02, Vol.77 (2), p.208-215

2006

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Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2

Clinical genetics, 2015-12, Vol.88 (6), p.573-578

2015

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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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Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

Neurology, 2002-07, Vol.59 (2), p.284-287

2002

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Central core disease: clinical, pathological, and genetic features

Archives of disease in childhood, 2003-12, Vol.88 (12), p.1051-1055

2003

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A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles

Neurology, 2005-04, Vol.64 (7), p.1245-1254

2005

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Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases

Neurology, 2005-02, Vol.64 (3), p.527-529

2005

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Fetal akinesia: review of the genetics of the neuromuscular causes

Journal of Medical Genetics, 2011-12, Vol.48 (12), p.793-801

2011

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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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Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

Human genetics, 2001-12, Vol.109 (6), p.638-645

2001

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Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase

Neurology, 1997-01, Vol.48 (1), p.55-57

1997

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Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

Neuromuscular disorders : NMD, 2003-02, Vol.13 (2), p.151-157

2003

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Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo‐obstruction

Neurogastroenterology and motility, 2018-09, Vol.30 (9), p.e13371-n/a

2018

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TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

Annals of neurology, 2015-12, Vol.78 (6), p.982-994

2015

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Recessive Amyotrophic Lateral Sclerosis Families with the D90A SOD1 Mutation Share a Common Founder: Evidence for a Linked Protective Factor

Human molecular genetics, 1998-12, Vol.7 (13), p.2045-2050

1998

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Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

Neurology, 2000-11, Vol.55 (9), p.1388-1391

2000

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

Nature genetics, 1995-01, Vol.9 (1), p.75-79

1995

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Autosomal dominant distal myopathy : linkage to chromosome 14

American journal of human genetics, 1995-02, Vol.56 (2), p.422-427

1995

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Nemaline myopathy : current concepts

Journal of medical genetics, 1997-09, Vol.34 (9), p.705-713

1997

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Core-rod myopathy caused by mutations in the nebulin gene

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2

Clinical course correlates poorly with muscle pathology in nemaline myopathy

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

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

Central core disease: clinical, pathological, and genetic features

A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles

Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases

Fetal akinesia: review of the genetics of the neuromuscular causes

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

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo‐obstruction

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

Recessive Amyotrophic Lateral Sclerosis Families with the D90A SOD1 Mutation Share a Common Founder: Evidence for a Linked Protective Factor

Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

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

Autosomal dominant distal myopathy : linkage to chromosome 14

Nemaline myopathy : current concepts

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