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539P A late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition is more common in West of Scotland than primary genetic MADD, and is likely multifactorial

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.130

2024

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The misuse of the faecal occult blood test under the lower gastrointestinal two week wait rule

Colorectal disease, 2009-01, Vol.11 (1), p.94-96

2009

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P412 Expanding the clinical and genetic spectrum of biallelic pathogenic MYO18B variants in congenital myopathy

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S126-S127

2023

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P3.41. Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.694-694

2011

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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

Human molecular genetics, 2003-11, Vol.12 (21), p.2853-2861

2003

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G.P.12.02 Asymmetric hypertrophy and contractures in an adult male due to somatic mosaicism for a DMD stop mutation

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.804-804

2008

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Muscle fibrillin deficiency in Marfan’s syndrome myopathy

Journal of neurology, neurosurgery and psychiatry, 2003-05, Vol.74 (5), p.633-638

2003

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P67 SEPN1 related myopathies: Clinical course in a large cohort of patients

Neuromuscular disorders : NMD, 2011, Vol.21, p.S26-S26

2011

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The molecular basis of the folate-sensitive fragile site FRA11A at 11q13

Cytogenetic and genome research, 2007-01, Vol.119 (1-2), p.9-14

2007

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P18 Variant triplet repeats in the CTG expansion of DMPK affect stability of the expanded region and may contribute to unusual symptoms observed in some myotonic dystrophy type 1 cases

Neuromuscular disorders : NMD, 2010, Vol.20, p.S10-S10

2010

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P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S139-S139

2023

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A trial of zinc supplementation in young rural Gambian children

British journal of nutrition, 1993-01, Vol.69 (1), p.243-255

1993

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P.235Clinico-pathological characterisation of CACNA1S related congenital myopathy in children

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S135-S135

2019

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P.138 - Two novel mutations in the FHL1 gene extending the phenotypic spectrum

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S138-S139

2017

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P.146 - A large multi-generation family with a novel CAV3 mutation highlights extreme phenotypic variability and early childhood presentations

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S141-S141

2017

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Two novel mutations in the FHL1 gene extending the phenotypic spectrum

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S138-S139

2017

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A large multi-generation family with a novel CAV3 mutation highlights extreme phenotypic variability and early childhood presentations

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S141

2017

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Masseter muscle volume correlates with disease duration in adults with myotonic dystrophy type 1 (DM1)

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S10-S11

2018

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D16 - Masseter muscle volume correlates with disease duration in adults with myotonic dystrophy type 1 (DM1)

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S10-S11

2018

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Outcome measures for central nervous system symptoms in myotonic dystrophy type 1: insights from a case-controlled study

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S11

2018

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D18 - Outcome measures for central nervous system symptoms in myotonic dystrophy type 1: insights from a case-controlled study

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S11-S11

2018

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Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3

Human genetics, 2005-07, Vol.117 (2-3), p.207-212

2005

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G.P.315: Cases of normal to mildly elevated creatine kinase in muscle-eye-brain disease patients and delay in diagnosis

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.916-916

2014

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Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy

Developmental medicine and child neurology, 2011-06, Vol.53 (6), p.535-542

2011

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Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Oncotarget, 2011-12, Vol.2 (12), p.1127-1133

2011

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539P A late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition is more common in West of Scotland than primary genetic MADD, and is likely multifactorial

The misuse of the faecal occult blood test under the lower gastrointestinal two week wait rule

P412 Expanding the clinical and genetic spectrum of biallelic pathogenic MYO18B variants in congenital myopathy

P3.41. Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

G.P.12.02 Asymmetric hypertrophy and contractures in an adult male due to somatic mosaicism for a DMD stop mutation

Muscle fibrillin deficiency in Marfan’s syndrome myopathy

P67 SEPN1 related myopathies: Clinical course in a large cohort of patients

The molecular basis of the folate-sensitive fragile site FRA11A at 11q13

P18 Variant triplet repeats in the CTG expansion of DMPK affect stability of the expanded region and may contribute to unusual symptoms observed in some myotonic dystrophy type 1 cases

P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features

A trial of zinc supplementation in young rural Gambian children

P.235Clinico-pathological characterisation of CACNA1S related congenital myopathy in children

P.138 - Two novel mutations in the FHL1 gene extending the phenotypic spectrum

P.146 - A large multi-generation family with a novel CAV3 mutation highlights extreme phenotypic variability and early childhood presentations

Two novel mutations in the FHL1 gene extending the phenotypic spectrum

A large multi-generation family with a novel CAV3 mutation highlights extreme phenotypic variability and early childhood presentations

Masseter muscle volume correlates with disease duration in adults with myotonic dystrophy type 1 (DM1)

D16 - Masseter muscle volume correlates with disease duration in adults with myotonic dystrophy type 1 (DM1)

Outcome measures for central nervous system symptoms in myotonic dystrophy type 1: insights from a case-controlled study

D18 - Outcome measures for central nervous system symptoms in myotonic dystrophy type 1: insights from a case-controlled study

Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3

G.P.315: Cases of normal to mildly elevated creatine kinase in muscle-eye-brain disease patients and delay in diagnosis

Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

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