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Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair

Molecular biology of the cell, 2014-10, Vol.25 (19), p.3037-3048

2014

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Cerebrovascular dysplasia in neurofibromatosis type 1

Journal of neurology, neurosurgery and psychiatry, 2008-10, Vol.79 (10), p.1165-1170

2008

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Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

Neurology, 2012-04, Vol.78 (16), p.1258

2012

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Outcome of noninvasive ventilation in children with neuromuscular disease

Neurology, 2007-01, Vol.68 (3), p.198

2007

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Diagnosis and etiology of congenital muscular dystrophy

Neurology, 2008-07, Vol.71 (5), p.312

2008

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Clinical course correlates poorly with muscle pathology in nemaline myopathy

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

2003

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Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1)

Neurology, 2002-09, Vol.59 (5), p.759

2002

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Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1

Neurology, 2003-04, Vol.60 (7), p.1139

2003

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Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 Cognitive Disorders Task Force

Neurology, 1997-04, Vol.48 (4), p.1121

1997

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Development of clinical practice guidelines for allied health and nursing assessment and management of Duchenne muscular dystrophy

Disability and rehabilitation, 2022-09, Vol.44 (19), p.5450-5467

2022

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Uptake of health monitoring and disease self-management in Australian adults with neurofibromatosis type 1: strategies to improve care

Clinical genetics, 2016-03, Vol.89 (3), p.385-391

2016

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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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Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans

International Journal of Obesity, 2017-07, Vol.41 (7), p.1154-1157

2017

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A "human knockout" model to investigate the influence of the α-actinin-3 protein on exercise-induced mitochondrial adaptations

Scientific reports, 2019-09, Vol.9 (1), p.12688-14, Article 12688

2019

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α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization

Human molecular genetics, 2014-04, Vol.23 (7), p.1879-1893

2014

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Brain structure and function in neurofibromatosis type 1: current concepts and future directions

Journal of Neurology, Neurosurgery and Psychiatry, 2010-03, Vol.81 (3), p.304-309

2010

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Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas

Familial cancer, 2012-12, Vol.11 (4), p.653-656

2012

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Sequence analysis of the equine ACTN3 gene in Australian horse breeds

Gene, 2014-03, Vol.538 (1), p.88-93

2014

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A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse

American Journal of Physiology: Cell Physiology, 2008-10, Vol.295 (4), p.C897-C904

2008

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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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Cerebrovascular complications in Ehlers-Danlos syndrome type IV

Annals of neurology, 1995-12, Vol.38 (6), p.960-964

1995

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Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

Human molecular genetics, 2005-01, Vol.14 (2), p.279-293

2005

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MRI findings in children with neurofibromatosis type 1 : a prospective study

Pediatric radiology, 1996-07, Vol.26 (7), p.478-487

1996

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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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Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair

Cerebrovascular dysplasia in neurofibromatosis type 1

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

Outcome of noninvasive ventilation in children with neuromuscular disease

Diagnosis and etiology of congenital muscular dystrophy

Clinical course correlates poorly with muscle pathology in nemaline myopathy

Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1)

Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1

Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 Cognitive Disorders Task Force

Development of clinical practice guidelines for allied health and nursing assessment and management of Duchenne muscular dystrophy

Uptake of health monitoring and disease self-management in Australian adults with neurofibromatosis type 1: strategies to improve care

Fetal akinesia: review of the genetics of the neuromuscular causes

Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans

A "human knockout" model to investigate the influence of the α-actinin-3 protein on exercise-induced mitochondrial adaptations

α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization

Brain structure and function in neurofibromatosis type 1: current concepts and future directions

Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas

Sequence analysis of the equine ACTN3 gene in Australian horse breeds

A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse

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

Nemaline myopathy : current concepts

Cerebrovascular complications in Ehlers-Danlos syndrome type IV

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

MRI findings in children with neurofibromatosis type 1 : a prospective study

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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