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Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study

Frontiers in human neuroscience, 2020-12, Vol.14, p.560860-560860

2020

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LZTR1 loss-of-function variants associated with café au lait macules with or without freckling

Frontiers in neurology, 2024-08, Vol.15, p.1391425

2024

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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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Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations

Journal of clinical medicine, 2022-01, Vol.11 (2), p.372

2022

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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 nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Orphanet journal of rare diseases, 2018-11, Vol.13 (1), p.211-211, Article 211

2018

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Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family

Neuromuscular disorders : NMD, 2019-05, Vol.29 (5), p.392-397

2019

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Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method

Genes, 2024-03, Vol.15 (3), p.342

2024

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A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain

Frontiers in neuroscience, 2019-09, Vol.13, p.918-918

2019

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Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)

Genes, 2024-01, Vol.15 (1), p.14

2024

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Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories

Frontiers in neurology, 2023-12, Vol.14, p.1276238-1276238

2023

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Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES

Neuropediatrics, 2012-08, Vol.43 (4), p.209-216

2012

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DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy

Neuromuscular disorders : NMD, 2013-01, Vol.23 (1), p.36-42

2013

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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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Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

Brain (London, England : 1878), 2008-03, Vol.131 (3), p.747-759

2008

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The Curse of Apneic Spells

Seminars in pediatric neurology, 2018-07, Vol.26, p.56-58

2018

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Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene

Molecular and cellular probes, 2015-10, Vol.29 (5), p.319-322

2015

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Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission

Expert reviews in molecular medicine, 2007-08, Vol.9 (22), p.1-20

2007

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Persistent hypokalaemia and intermittent muscle weakness

Practical neurology, 2022-12, Vol.22 (6), p.518-520

2022

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Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1

Brain (London, England : 1878), 2023-12, Vol.146 (12), p.e111-e114

2023

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Dilative cardiomyopathy displaying double trouble etiology: Myocarditis and Mcleod syndrome?

Clinical neurology and neurosurgery, 2020-10, Vol.197, p.106122-106122, Article 106122

2020

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Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease

Journal of neurology, 2024-09, Vol.271 (9), p.5804-5812

2024

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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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Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

JAMA : the journal of the American Medical Association, 2014-07, Vol.312 (1), p.68

2014

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Präkonzeptionsscreening

Gynäkologische Endokrinologie, 2022-05, Vol.20 (2), p.116-124

2022

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Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study

LZTR1 loss-of-function variants associated with café au lait macules with or without freckling

Congenital myasthenic syndrome caused by novel COL13A1 mutations

Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations

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

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family

Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method

A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain

Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)

Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories

Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy

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

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

The Curse of Apneic Spells

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission

Persistent hypokalaemia and intermittent muscle weakness

Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1

Dilative cardiomyopathy displaying double trouble etiology: Myocarditis and Mcleod syndrome?

Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease

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

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

Präkonzeptionsscreening

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