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Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency

European journal of human genetics : EJHG, 2021-10, Vol.29 (10), p.1536-1541

2021

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KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement

Journal of the peripheral nervous system, 2020-06, Vol.25 (2), p.117-124

2020

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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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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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Paediatric stroke: genetic insights into disease mechanisms and treatment targets

Lancet neurology, 2011-03, Vol.10 (3), p.264-274

2011

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242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1–3 March 2019

Neuromuscular disorders : NMD, 2020-03, Vol.30 (3), p.254-264

2020

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Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

Human genome variation, 2019-08, Vol.6 (1), p.35-35, Article 35

2019

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Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort

Frontiers in pediatrics, 2022-06, Vol.10, p.910660-910660

2022

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Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen

Developmental medicine and child neurology, 2022-07, Vol.64 (7), p.907-914

2022

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Demographics and ocular findings in children with myasthenia

Eye (London), 2023-03, Vol.37 (4), p.700-704

2023

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Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood

Developmental medicine and child neurology, 2019-08, Vol.61 (8), p.964-971

2019

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Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases

Brain (London, England : 1878), 2023-03, Vol.146 (3), p.806-822

2023

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Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy

Journal of neurology, neurosurgery and psychiatry, 2019-02, Vol.90 (2), p.243

2019

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Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1

Neuromuscular disorders : NMD, 2024-09, Vol.42, p.22-26

2024

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Corrigendum to “Workshop report: 242nd ENMC international workshop: Diagnosis and management of juvenile myasthenia gravis, Hoofddorp, the Netherlands, 1–3 March 2019” [Neuromuscular Disorders 30 (2020) 254–264]

Neuromuscular disorders : NMD, 2021-03, Vol.31 (3), p.264-264

2021

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Skeletal Muscle Channelopathies

Neurologic clinics, 2020-08, Vol.38 (3), p.481-491

2020

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Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels

Neuromuscular disorders : NMD, 2023-09, Vol.33 (9), p.98-105

2023

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CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes

The Journal of clinical investigation, 2024-06, Vol.134 (12), p.1-16

2024

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Accelerating the genetic diagnosis of neurological disorders presenting with episodic apnoea in infancy

The lancet child & adolescent health, 2022-07, Vol.6 (7), p.495-508

2022

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Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1

Brain (London, England : 1878), 2023-10, Vol.146 (10), p.4025-4032

2023

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Pediatric Neurology: what do I do now?

European Journal of Paediatric Neurology, 2010-11, Vol.14 (6), p.555-555

Munot, Pinki

2010

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Pediatric neuromuscular channelopathies

Handbook of Clinical Neurology, 2024, Vol.203, p.111-122

2024

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Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre

Brain communications, 2023-11, Vol.5 (6), p.fcad299-fcad299

2023

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Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review

Neuromuscular disorders : NMD, 2023-01, Vol.33 (1), p.50-57

2023

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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Acta neuropathologica, 2017-04, Vol.133 (4), p.517-533

2017

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Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency

KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement

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

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

Paediatric stroke: genetic insights into disease mechanisms and treatment targets

242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1–3 March 2019

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort

Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen

Demographics and ocular findings in children with myasthenia

Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases

Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy

Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1

Corrigendum to “Workshop report: 242nd ENMC international workshop: Diagnosis and management of juvenile myasthenia gravis, Hoofddorp, the Netherlands, 1–3 March 2019” [Neuromuscular Disorders 30 (2020) 254–264]

Skeletal Muscle Channelopathies

Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes

Accelerating the genetic diagnosis of neurological disorders presenting with episodic apnoea in infancy

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1

Pediatric Neurology: what do I do now?

Pediatric neuromuscular channelopathies

Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre

Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

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