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A.P.10

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.833-833

2014

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P.10.22 Powerful mouse resource for determining modifier genes for neuromuscular diseases

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.795-795

2013

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G.P.263

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.896-896

2014

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G.P.31

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.803-803

2014

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G.P.50

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.809-810

2014

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D.P.14 Mining modifier genes for skeletal muscle actin diseases

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.811-812

2012

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C.O.3 Efficacy of cardiac actin over-expression therapy for ACTA1 disease seems mutation specific

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.839-839

2012

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G.P.92 Study of an autosomal recessive spinocerebellar ataxia with peripheral neuropathy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.869-870

2012

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C.P.18 Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain or loss of function

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.846-846

2012

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P2.50 Discovery of novel proteins, polyalanine and pre-B-cell leukaemia transcription factor 2 (PBX2), upregulated in inflammatory myopathies

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.634-634

2010

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O.24 Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.751-751

2011

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G.P.7.10 Investigation of the patho-biology of MYH7 myopathy mutations

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.590-590

2009

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O.12 A new member of the BTB/Kelch family of proteins is mutated in nemaline myopathy type 6 (NEM6)

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.638-638

2010

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Optimizing Precision Medicine for Public Health

Frontiers in public health, 2019, Vol.7, p.42-42

2019

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G.P.9.02 Expression of cardiac α-actin spares extraocular muscles in skeletal muscle α-actin diseases – determination of cardiac α-actin by MRM mass spectrometry

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.786-786

2008

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Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges

Frontiers in public health, 2019, Vol.7, p.40-40

2019

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G.P.9.01 A mutant skeletal muscle α -actin gene, fused to enhanced green fluorescent protein (EGFP) produces a unique myopathic mouse model

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.785-786

2008

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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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A.P.10: Investigating a novel knock-in mouse model with a mutation (E247K) in the skeletal muscle-specific filamin C gene

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.833-833

2014

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G.P.31: Voluntary running wheel activity and body weight analyses in diverse mouse strains: A platform for identifying modifying genes for neuromuscular diseases

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.803-803

2014

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G.P.50: Mapping a cardiac actin expression QTL using recombinant inbred mouse models

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.809-810

2014

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G.P.263: The role of rods in nemaline myopathy and the cause of muscle weakness

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.896-896

2014

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

Neuromuscular disorders : NMD, 2001, Vol.11 (1), p.35-40

2001

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A and B utrophin in human muscle and sarcolemmal A-utrophin associated with tumours

Neuromuscular disorders : NMD, 2005-11, Vol.15 (11), p.779-785

2005

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Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion

Neuromuscular disorders : NMD, 2000-02, Vol.10 (2), p.100-107

2000

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A.P.10

P.10.22 Powerful mouse resource for determining modifier genes for neuromuscular diseases

G.P.263

G.P.31

G.P.50

D.P.14 Mining modifier genes for skeletal muscle actin diseases

C.O.3 Efficacy of cardiac actin over-expression therapy for ACTA1 disease seems mutation specific

G.P.92 Study of an autosomal recessive spinocerebellar ataxia with peripheral neuropathy

C.P.18 Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain or loss of function

P2.50 Discovery of novel proteins, polyalanine and pre-B-cell leukaemia transcription factor 2 (PBX2), upregulated in inflammatory myopathies

O.24 Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies

G.P.7.10 Investigation of the patho-biology of MYH7 myopathy mutations

O.12 A new member of the BTB/Kelch family of proteins is mutated in nemaline myopathy type 6 (NEM6)

Optimizing Precision Medicine for Public Health

G.P.9.02 Expression of cardiac α-actin spares extraocular muscles in skeletal muscle α-actin diseases – determination of cardiac α-actin by MRM mass spectrometry

Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges

G.P.9.01 A mutant skeletal muscle α -actin gene, fused to enhanced green fluorescent protein (EGFP) produces a unique myopathic mouse model

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

A.P.10: Investigating a novel knock-in mouse model with a mutation (E247K) in the skeletal muscle-specific filamin C gene

G.P.31: Voluntary running wheel activity and body weight analyses in diverse mouse strains: A platform for identifying modifying genes for neuromuscular diseases

G.P.50: Mapping a cardiac actin expression QTL using recombinant inbred mouse models

G.P.263: The role of rods in nemaline myopathy and the cause of muscle weakness

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

A and B utrophin in human muscle and sarcolemmal A-utrophin associated with tumours

Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion

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