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

Brain (London, England : 1878), 2019-06, Vol.142 (6), p.1547-1560

2019

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Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

International journal of molecular sciences, 2020-05, Vol.21 (11), p.3810

2020

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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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Congenital myasthenic syndrome caused by novel COL13A1 mutations

Journal of neurology, 2019-05, Vol.266 (5), p.1107-1112

2019

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PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

Cell reports (Cambridge), 2019-03, Vol.26 (13), p.3484-3492.e4

2019

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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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Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

Journal of neurology, 2018-01, Vol.265 (1), p.194-203

2018

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Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family

Brain (London, England : 1878), 2017-08, Vol.140 (8), p.e46-e46

2017

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Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

American journal of human genetics, 2011-02, Vol.88 (2), p.162-172

2011

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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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A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

Human molecular genetics, 2015-06, Vol.24 (12), p.3418-3426

2015

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Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

Neuromuscular disorders : NMD, 2014-01, Vol.24 (1), p.31-35

2014

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Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration

The EMBO journal, 2018-12, Vol.37 (23)

2018

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Cardiac differentiation in Xenopus is initiated by mespa

Cardiovascular research, 2013-03, Vol.97 (3), p.454-463

2013

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Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Nature genetics, 2015-07, Vol.47 (8), p.962-962

2015

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

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

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

Congenital myasthenic syndrome caused by novel COL13A1 mutations

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

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

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

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

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration

Cardiac differentiation in Xenopus is initiated by mespa

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

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