Congenital myasthenic syndromes

Anti-MuSK autoantibodies block binding of collagen Q to MuSK.

Neurology·2011

Myasthenic syndrome caused by plectinopathy.

Neurology·2011

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

Neurology·2009

Novel congenital myasthenic syndromes associated with defects in quantal release.

Neurology·2006

Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries.

Journal of medical genetics·2005

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.

Neurology·2005

Enhancing epilepsy and seizure first aid awareness in polish youth: The impact of targeted educational programs.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026

Effect of extracorporeal shock wave therapy (ESWT) on gastrocnemius muscle spasticity among cerebral palsy children: A randomised controlled trial with sonographic evidence.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026

SCN1A-related epilepsy with spike-wave activation in sleep: A retrospective cohort and literature review.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026

Retrospective study of effectiveness of high versus low intensity robotic gait training in combination with physiotherapy for pediatric cerebral palsy patients.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026

Barriers to transition from paediatric to adult care for adolescents and young adults requiring long-term mechanical ventilation in Japan: A nationwide survey study.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026

High CSSI-24 scores in paediatric headache suggest a functional disorder and call for a neurodevelopmental biopsychosocial framework: A prospective cohort study.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026

Extensive Axillary Nodal Metastasis Despite a Clinically Negative Axilla in Invasive Lobular Carcinoma: A Case Report.

Cureus·2026

Acromegaly Secondary to Ectopic Growth Hormone-Releasing Hormone Secretion From Metastatic Bronchial Carcinoid Tumor: A Case Report.

Cureus·2026

Chinese expert consensus on wound repair of venous leg ulcers (2025 edition).

Military Medical Research·2026

Large Anogenital Bowen Disease Misdiagnosed as Chronic Eczema for Nine Years: A Case Report Highlighting the Importance of Early Biopsy.

Clinical case reports·2026

Exploring Chemically-Induced Oxidative Stress: A Comparative Study of Zebrafish Embryos and Maturated HepG2 Cells.

Toxicology·2026

Related Experiment Videos

Congenital myasthenic syndromes

Related Concept Videos

Anti-MuSK autoantibodies block binding of collagen Q to MuSK.

Myasthenic syndrome caused by plectinopathy.

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

Novel congenital myasthenic syndromes associated with defects in quantal release.

Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries.

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.

Enhancing epilepsy and seizure first aid awareness in polish youth: The impact of targeted educational programs.

Effect of extracorporeal shock wave therapy (ESWT) on gastrocnemius muscle spasticity among cerebral palsy children: A randomised controlled trial with sonographic evidence.

SCN1A-related epilepsy with spike-wave activation in sleep: A retrospective cohort and literature review.

Retrospective study of effectiveness of high versus low intensity robotic gait training in combination with physiotherapy for pediatric cerebral palsy patients.

Barriers to transition from paediatric to adult care for adolescents and young adults requiring long-term mechanical ventilation in Japan: A nationwide survey study.

High CSSI-24 scores in paediatric headache suggest a functional disorder and call for a neurodevelopmental biopsychosocial framework: A prospective cohort study.

Extensive Axillary Nodal Metastasis Despite a Clinically Negative Axilla in Invasive Lobular Carcinoma: A Case Report.

Acromegaly Secondary to Ectopic Growth Hormone-Releasing Hormone Secretion From Metastatic Bronchial Carcinoid Tumor: A Case Report.

Chinese expert consensus on wound repair of venous leg ulcers (2025 edition).

Large Anogenital Bowen Disease Misdiagnosed as Chronic Eczema for Nine Years: A Case Report Highlighting the Importance of Early Biopsy.

Exploring Chemically-Induced Oxidative Stress: A Comparative Study of Zebrafish Embryos and Maturated HepG2 Cells.

Related Experiment Videos

Congenital myasthenic syndromes

Related Concept Videos

Related Articles