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Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

Human mutation, 2012-10, Vol.33 (10), p.1474-1484

2012

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A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

Journal of neurology, 2012-03, Vol.259 (3), p.474-481

2012

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Fibronectin is a serum biomarker for Duchenne muscular dystrophy

Proteomics. Clinical applications, 2014-04, Vol.8 (3-4), p.269-278

2014

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Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation

Journal of the neurological sciences, 2013-08, Vol.331 (1), p.155-157

2013

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039 Cerebral venous sinus thrombosis and COVID-19: causation or coincidence?

Journal of neurology, neurosurgery and psychiatry, 2022-06, Vol.93 (6), p.A113-A113

2022

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079 The impact of the COVID-19 pandemic on the mental health of MND patients

Journal of neurology, neurosurgery and psychiatry, 2022-06, Vol.93 (6), p.A125-A125

2022

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Phenotypical differences of C9ORF72 gene-positive and negative amyotrophic lateral sclerosis: a comparative case series

Journal of medical genetics, 2023-10, Vol.60 (10), p.1016-1020

2023

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Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions

European journal of human genetics : EJHG, 2024-03, Vol.32 (3), p.260-262

2024

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186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2012-06, Vol.22 (6), p.566-576

2012

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Cognition and behaviour in frontotemporal dementia with and without amyotrophic lateral sclerosis

Journal of neurology, neurosurgery and psychiatry, 2020-12, Vol.91 (12), p.1304-1311

2020

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Delayed onset post-traumatic wound botulism

Practical neurology, 2024-08, Vol.24 (4), p.320-325

2024

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Improving the measurement properties of the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R): deriving a valid measurement total for the calculation of change

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2024-05, Vol.25 (3-4), p.400-409

2024

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Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

Journal of neurology, neurosurgery and psychiatry, 2015-10, Vol.86 (10), p.1060-1065

2015

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Perry Syndrome with Intrafamilial Heterogeneity in Presentation and Survival Including Acute Respiratory Failure: Case Series

Movement disorders clinical practice (Hoboken, N.J.), 2022-08, Vol.9 (6), p.816-820

2022

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Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Brain (London, England : 1878), 2014-09, Vol.137 (Pt 9), p.2429-2443

2014

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Dyspnea (breathlessness) in amyotrophic lateral sclerosis/motor neuron disease: prevalence, progression, severity, and correlates

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2024-03, Vol.25 (5-6), p.1-485

2024

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Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies

EMBO molecular medicine, 2014-07, Vol.6 (7), p.918-936

2014

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Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α–ε subunit interface

Neuromuscular disorders : NMD, 2014-02, Vol.24 (2), p.143-147

2014

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The Edinburgh Cognitive and Behavioral ALS Screen (ECAS) in frontotemporal dementia

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2020-10, Vol.21 (7-8), p.606-613

2020

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A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid : the statistical analysis plan of TUDCA-ALS trial

Trials, 2023-12, Vol.24 (1)

2023

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Tauroursodeoxycholic acid in patients with amyotrophic lateral sclerosis: The TUDCA-ALS trial protocol

Frontiers in neurology, 2022-09, Vol.13, p.1009113-1009113

2022

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Two recurrent mutations are associated with GNE myopathy in the North of Britain

Journal of neurology, neurosurgery and psychiatry, 2014-12, Vol.85 (12), p.1359-1365

2014

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Mutations in SLC25A1, encoding the mitochondrial citrate carrier, cause neuromuscular junction transmission defect

Biochimica et biophysica acta. Bioenergetics, 2016-08, Vol.1857, p.e71-e71

2016

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Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

Clinical trials in amyotrophic lateral sclerosis: a systematic review and perspective

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

Fibronectin is a serum biomarker for Duchenne muscular dystrophy

Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation

039 Cerebral venous sinus thrombosis and COVID-19: causation or coincidence?

079 The impact of the COVID-19 pandemic on the mental health of MND patients

Phenotypical differences of C9ORF72 gene-positive and negative amyotrophic lateral sclerosis: a comparative case series

Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions

186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands

Cognition and behaviour in frontotemporal dementia with and without amyotrophic lateral sclerosis

Delayed onset post-traumatic wound botulism

Improving the measurement properties of the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R): deriving a valid measurement total for the calculation of change

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

Perry Syndrome with Intrafamilial Heterogeneity in Presentation and Survival Including Acute Respiratory Failure: Case Series

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Dyspnea (breathlessness) in amyotrophic lateral sclerosis/motor neuron disease: prevalence, progression, severity, and correlates

Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α–ε subunit interface

The Edinburgh Cognitive and Behavioral ALS Screen (ECAS) in frontotemporal dementia

A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial

A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid : the statistical analysis plan of TUDCA-ALS trial

Tauroursodeoxycholic acid in patients with amyotrophic lateral sclerosis: The TUDCA-ALS trial protocol

Two recurrent mutations are associated with GNE myopathy in the North of Britain

Mutations in SLC25A1, encoding the mitochondrial citrate carrier, cause neuromuscular junction transmission defect

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