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Myopathology in congenital myopathies

Neuropathology and applied neurobiology, 2017-02, Vol.43 (1), p.5-23

2017

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RYR1 mutations are a common cause of congenital myopathies with central nuclei

Annals of neurology, 2010-11, Vol.68 (5), p.717-726

2010

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Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

Journal of medical genetics, 2011-10, Vol.48 (10), p.660-668

2011

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Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Neuromuscular disorders : NMD, 2013-03, Vol.23 (3), p.195-205

2013

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Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

Brain (London, England : 1878), 2006-05, Vol.129 (5), p.1260-1268

2006

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Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

Neurology, 2005-12, Vol.65 (12), p.1930-1935

2005

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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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RYR1 -related congenital myopathy with fatigable weakness, responding to pyridostigimine

Neuromuscular disorders : NMD, 2014-08, Vol.24 (8), p.707-712

2014

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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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A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy

Neurology, 2008-11, Vol.71 (22), p.1757-1763

2008

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Congenital muscular dystrophy: molecular and cellular aspects

Cellular and molecular life sciences : CMLS, 2005-04, Vol.62 (7-8), p.809-823

2005

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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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Importance of immunohistochemical evaluation of developmentally regulated myosin heavy chains in human muscle biopsies

Neuromuscular disorders : NMD, 2021-05, Vol.31 (5), p.371-384

2021

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Flow cytometry analysis: A quantitative method for collagen VI deficiency screening

Neuromuscular disorders : NMD, 2012-02, Vol.22 (2), p.139-148

2012

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The Emery-Dreifuss Muscular Dystrophy Protein, Emerin, is a Nuclear Membrane Protein

Human molecular genetics, 1996-06, Vol.5 (6), p.801-808

1996

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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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Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study

Neurology, 2002-05, Vol.58 (9), p.1354-1359

2002

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Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity

Neuromuscular disorders : NMD, 2015-06, Vol.25 (6), p.530-530

Sewry, C.A

2015

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Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations

Neuropathology and applied neurobiology, 2001-08, Vol.27 (4), p.281-290

2001

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Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions

Neuropathology and applied neurobiology, 2004-10, Vol.30 (5), p.540-545

2004

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The spectrum of pathology in central core disease

Neuromuscular disorders : NMD, 2002-12, Vol.12 (10), p.930-938

2002

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Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Brain (London, England : 1878), 2007-08, Vol.130 (8), p.2024-2036

2007

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Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008

Neuromuscular disorders : NMD, 2012-06, Vol.22 (6), p.522-527

2012

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Distribution of Emerin and Lamins in the Heart and Implications for Emery-Dreifuss Muscular Dystrophy

Human molecular genetics, 1999-02, Vol.8 (2), p.353-359

1999

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Mutations in Emery-Dreifuss Muscular Dystrophy and their Effects on Emerin Protein Expression

Human molecular genetics, 1998-05, Vol.7 (5), p.855-864

1998

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Myopathology in congenital myopathies

RYR1 mutations are a common cause of congenital myopathies with central nuclei

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

RYR1 -related congenital myopathy with fatigable weakness, responding to pyridostigimine

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

A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy

Congenital muscular dystrophy: molecular and cellular aspects

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

Importance of immunohistochemical evaluation of developmentally regulated myosin heavy chains in human muscle biopsies

Flow cytometry analysis: A quantitative method for collagen VI deficiency screening

The Emery-Dreifuss Muscular Dystrophy Protein, Emerin, is a Nuclear Membrane Protein

Central core disease: clinical, pathological, and genetic features

Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study

Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions

The spectrum of pathology in central core disease

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008

Distribution of Emerin and Lamins in the Heart and Implications for Emery-Dreifuss Muscular Dystrophy

Mutations in Emery-Dreifuss Muscular Dystrophy and their Effects on Emerin Protein Expression

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