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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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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

2020

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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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Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

Journal of neuromuscular diseases, 2014, Vol.1 (1), p.75-90

2014

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The clinical and genetic characteristics of congenital myasthenic syndromes

Chaouch, Amina

2014

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Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes

European journal of paediatric neurology, 2011-05, Vol.15 (3), p.189-196

2011

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Presymptomatic late-onset Pompe disease identified by the dried blood spot test

Neuromuscular disorders : NMD, 2013-01, Vol.23 (1), p.89-92

2013

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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

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

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

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

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

The clinical and genetic characteristics of congenital myasthenic syndromes

Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes

Presymptomatic late-onset Pompe disease identified by the dried blood spot test

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