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The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

International journal of molecular sciences, 2018-06, Vol.19 (6), p.1677

2018

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Congenital myasthenic syndromes and the neuromuscular junction

Current opinion in neurology, 2014-10, Vol.27 (5), p.566-575

2014

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Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

American journal of human genetics, 2015-12, Vol.97 (6), p.878-885

2015

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The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis

Frontiers in molecular neuroscience, 2020-12, Vol.13, p.610964

2020

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Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis

JAMA neurology, 2015-06, Vol.72 (6), p.642

2015

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Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Brain (London, England : 1878), 2015-09, Vol.138 (Pt 9), p.2493-2504

2015

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Clinical features of the myasthenic syndrome arising from mutations in GMPPB

Journal of neurology, neurosurgery and psychiatry, 2016-08, Vol.87 (8), p.802-809

2016

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Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes

Neurology, 2015-09, Vol.85 (12), p.1043

2015

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Inherited disorders of the neuromuscular junction: an update

Journal of neurology, 2014-11, Vol.261 (11), p.2234-2243

2014

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Post-Infectious Autoimmunity in the Central (CNS) and Peripheral (PNS) Nervous Systems: An African Perspective

Frontiers in immunology, 2022-03, Vol.13, p.833548-833548

2022

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Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter

Neuromuscular disorders : NMD, 2021-01, Vol.31 (1), p.21-28

2021

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An analysis of the sensitivity and specificity of MHC-I and MHC-II immunohistochemical staining in muscle biopsies for the diagnosis of inflammatory myopathies

Neuromuscular disorders : NMD, 2014-12, Vol.24 (12), p.1025-1035

2014

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Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation

Proceedings of the National Academy of Sciences - PNAS, 2019-10, Vol.116 (42), p.21228-21235

2019

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260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands

Neuromuscular disorders : NMD, 2023-09, Vol.33 (9), p.111-118

2023

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Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure

Human mutation, 2020-03, Vol.41 (3), p.619-631

2020

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Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission

Brain communications, 2020-01, Vol.2 (2), p.fcaa174-fcaa174

2020

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Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature

Neuromuscular disorders : NMD, 2014-12, Vol.24 (12), p.1103-1110

2014

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Long-term Thalamic Deep Brain Stimulation for Essential Tremor: Clinical Outcome and Stimulation Parameters

Movement disorders clinical practice (Hoboken, N.J.), 2016-11, Vol.3 (6), p.567-572

2016

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A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

Neuromuscular disorders : NMD, 2023-02, Vol.33 (2), p.161-168

2023

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Acute hemicerebellitis in children: Case report and review of literature

European journal of paediatric neurology, 2013-09, Vol.17 (5), p.447-453

2013

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Sleep disordered breathing and subclinical impairment of respiratory function are common in sporadic inclusion body myositis

Neuromuscular disorders : NMD, 2014-12, Vol.24 (12), p.1036-1041

2014

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Muscle magnetic resonance imaging in congenital myasthenic syndromes

Muscle & nerve, 2016-08, Vol.54 (2), p.211-219

2016

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β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure

Brain (London, England : 1878), 2019-12, Vol.142 (12), p.3713-3727

2019

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Bilateral carotid artery occlusion: prognosis and neurosonological features

Revista de neurologiá, 2014-07, Vol.59 (2), p.57-62

2014

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The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

Congenital myasthenic syndromes and the neuromuscular junction

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis

Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes

Inherited disorders of the neuromuscular junction: an update

Post-Infectious Autoimmunity in the Central (CNS) and Peripheral (PNS) Nervous Systems: An African Perspective

Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter

An analysis of the sensitivity and specificity of MHC-I and MHC-II immunohistochemical staining in muscle biopsies for the diagnosis of inflammatory myopathies

Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation

260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure

Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission

Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature

Long-term Thalamic Deep Brain Stimulation for Essential Tremor: Clinical Outcome and Stimulation Parameters

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

Acute hemicerebellitis in children: Case report and review of literature

Sleep disordered breathing and subclinical impairment of respiratory function are common in sporadic inclusion body myositis

Muscle magnetic resonance imaging in congenital myasthenic syndromes

β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure

Bilateral carotid artery occlusion: prognosis and neurosonological features

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