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A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.171-182

2011

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Demyelination patterns in a mathematical model of multiple sclerosis

Journal of mathematical biology, 2017-08, Vol.75 (2), p.373-417

2017

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Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies

European journal of neurology, 2021-01, Vol.28 (1), p.297-304

2021

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Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

Journal of neurology, neurosurgery and psychiatry, 2016-06, Vol.87 (6), p.680-681

2016

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New aspects on patients affected by dysferlin deficient muscular dystrophy

Journal of neurology, neurosurgery and psychiatry, 2010-09, Vol.81 (9), p.946-953

2010

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Diagnostic difficulties in muscular dystrophy due to LAMA2 mutations – A case report of affected father and his son

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S269-S269

2015

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A water-filled garment to protect astronauts during interplanetary missions tested on board the ISS

Life sciences in space research, 2018-08, Vol.18, p.1-11

2018

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Myofibrillar myopathy phenotype due to recessive mutations in MEGF10

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S9-S9

2017

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Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A

Brain (London, England : 1878), 2007-12, Vol.130 (12), p.3237-3249

2007

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P73 The national diagnostic and advisory service for limb-girdle muscular dystrophies in Newcastle

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S26-S26

2014

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A refined diagnostic algorithm for Bethlem myopathy

Neurology, 2008-04, Vol.70 (14), p.1192-1199

2008

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Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion

Clinical genetics, 2016-08, Vol.90 (2), p.166-170

2016

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The importance of dosage analysis in dysferlinopathy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S231-S232

2015

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MYOFIBRILLAR AND DISTAL MYOPATHIES: P.245Assessment of new lectin-based protocols for the diagnosis of GNE myopathies

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S106-S106

2018

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MYOFIBRILLAR AND DISTAL MYOPATHIES

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S106

2018

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P28 Investigating mitochondrial dysfunction in the myofibrillar and other protein aggregate myopathies

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S14-S14

2014

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Mobility shift of beta-dystroglycan combined with reduced laminin alpha2 expression is a marker of genetic defects in the GMPPB gene

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S166-S166

2016

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Telethonin gene mutations detected by next generation sequencing

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S15-S15

2017

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Wavefront invasion for a chemotaxis model of Multiple Sclerosis

Ricerche di matematica, 2016-11, Vol.65 (2), p.423-434

2016

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Mitochondrial dysfunction: A key player in myofibrillar myopathy?

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S257-S257

2015

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G.P.280

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.901-901

2014

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Dystroglycan: from biosynthesis to pathogenesis of human disease

Journal of cell science, 2006-01, Vol.119 (2), p.199-207

2006

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A novel phenotype associated with STIM1 gene: A case report of a patient with a painful myopathy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S255-S256

2015

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P58 Psycho-organic symptoms as early manifestation of adult onset POMT1-related muscular dystrophy

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S22-S22

2014

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Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by β sarcoglycan mutations

Journal of medical genetics, 2000-02, Vol.37 (2), p.102-107

2000

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A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Demyelination patterns in a mathematical model of multiple sclerosis

Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

New aspects on patients affected by dysferlin deficient muscular dystrophy

Diagnostic difficulties in muscular dystrophy due to LAMA2 mutations – A case report of affected father and his son

A water-filled garment to protect astronauts during interplanetary missions tested on board the ISS

Myofibrillar myopathy phenotype due to recessive mutations in MEGF10

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A

P73 The national diagnostic and advisory service for limb-girdle muscular dystrophies in Newcastle

A refined diagnostic algorithm for Bethlem myopathy

Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion

The importance of dosage analysis in dysferlinopathy

MYOFIBRILLAR AND DISTAL MYOPATHIES: P.245Assessment of new lectin-based protocols for the diagnosis of GNE myopathies

MYOFIBRILLAR AND DISTAL MYOPATHIES

P28 Investigating mitochondrial dysfunction in the myofibrillar and other protein aggregate myopathies

Mobility shift of beta-dystroglycan combined with reduced laminin alpha2 expression is a marker of genetic defects in the GMPPB gene

Telethonin gene mutations detected by next generation sequencing

Wavefront invasion for a chemotaxis model of Multiple Sclerosis

Mitochondrial dysfunction: A key player in myofibrillar myopathy?

G.P.280

Dystroglycan: from biosynthesis to pathogenesis of human disease

A novel phenotype associated with STIM1 gene: A case report of a patient with a painful myopathy

P58 Psycho-organic symptoms as early manifestation of adult onset POMT1-related muscular dystrophy

Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by β sarcoglycan mutations

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