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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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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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Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting

Clinical and experimental dermatology, 2018-06, Vol.43 (4), p.410-415

2018

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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

Neuromuscular disorders : NMD, 2013-07, Vol.23 (7), p.540-548

2013

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SEPN1-related myopathies: clinical course in a large cohort of patients

Neurology, 2011-06, Vol.76 (24), p.2073-2078

2011

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Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis

The Lancet (British edition), 2001-09, Vol.358 (9287), p.1057-1061

2001

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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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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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High prevalence of cardiovascular risk factors in Peruvian adolescents living in a peri-urban shantytown: a cross-sectional study

Journal of health, population and nutrition, 2017-05, Vol.36 (1), p.19-19, Article 19

2017

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Congenital fibre type disproportion associated with mutations in the tropomyosin 3 ( TPM3 ) gene mimicking congenital myasthenia

Neuromuscular disorders : NMD, 2010-12, Vol.20 (12), p.796-800

2010

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Familial Alzheimer's disease and inherited prion disease in the UK are poorly ascertained

Journal of neurology, neurosurgery and psychiatry, 2011-09, Vol.82 (9), p.1054-1057

2011

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Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

Journal of medical genetics, 1996-07, Vol.33 (7), p.550-558

1996

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X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10

Neuromuscular disorders : NMD, 2012-05, Vol.22 (5), p.384-388

2012

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P87 Nebulin mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S31-S31

2012

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P07 The feasibility of exon skipping to restore the reading frame in DMD patients with duplications

Neuromuscular disorders : NMD, 2011, Vol.21, p.S8-S9

2011

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Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene

Gene, 2006-03, Vol.370, p.26-33

2006

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Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

Journal of investigative dermatology, 1999-10, Vol.113 (4), p.673-686

1999

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P61 The spectrum of genetic defects responsible for congenital fibre type disproportion

Neuromuscular disorders : NMD, 2011, Vol.21, p.S24-S24

2011

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P3.43 An adult-onset, slowly progressive axial myopathy with cataracts due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.695-695

2011

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P3.31 Congenital myopathies – clinical features and frequency of individual subtypes diagnosed in a five-year period: the UK experience

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.691-691

2011

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O.15 Mutations in the skeletal muscle ryanodine receptor (RYR1) gene presenting with exertional myalgia and rhabdomyolysis

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.748-748

2011

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P3.45 Muscle pathology in a large cohort of cases with SEPN1 mutations

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.695-696

2011

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P3.49 Myopathy associated with mutations in CHKB in three UK patients

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.697-697

2011

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Venga Y Relájese! Pilot Stress Reduction Program for Migrant Latina Women Living in Low-Resource Settings From Milwaukee to Lima

Wisconsin medical journal (Madison, Wis.), 2017-08, Vol.116 (3), p.168-170

2017

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G.P.12.03 Centronuclear myopathy with cataracts due to a novel heterozygous mutation in the dynamin 2 (DNM2) gene

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.636-636

2009

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

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

Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

SEPN1-related myopathies: clinical course in a large cohort of patients

Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis

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

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

High prevalence of cardiovascular risk factors in Peruvian adolescents living in a peri-urban shantytown: a cross-sectional study

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 ( TPM3 ) gene mimicking congenital myasthenia

Familial Alzheimer's disease and inherited prion disease in the UK are poorly ascertained

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10

P87 Nebulin mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

P07 The feasibility of exon skipping to restore the reading frame in DMD patients with duplications

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene

Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

P61 The spectrum of genetic defects responsible for congenital fibre type disproportion

P3.43 An adult-onset, slowly progressive axial myopathy with cataracts due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

P3.31 Congenital myopathies – clinical features and frequency of individual subtypes diagnosed in a five-year period: the UK experience

O.15 Mutations in the skeletal muscle ryanodine receptor (RYR1) gene presenting with exertional myalgia and rhabdomyolysis

P3.45 Muscle pathology in a large cohort of cases with SEPN1 mutations

P3.49 Myopathy associated with mutations in CHKB in three UK patients

Venga Y Relájese! Pilot Stress Reduction Program for Migrant Latina Women Living in Low-Resource Settings From Milwaukee to Lima

G.P.12.03 Centronuclear myopathy with cataracts due to a novel heterozygous mutation in the dynamin 2 (DNM2) gene

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