Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab.

Journal of neurology·2022

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.

Neurology. Genetics·2022

An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.

Annals of neurology·2022

Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.

Genes·2022

Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report.

Neurology. Genetics·2022

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.

Clinical genetics·2022

Repetitive nerve stimulation in juvenile myasthenia gravis: Diagnostic strategy and area decrement value.

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

Prognostic utility of the NEOS score in pediatric antibody-negative encephalitis: A cohort study.

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

Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey.

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

Paradoxical reactions in pediatric HIV-negative CNS tuberculosis: A longitudinal cohort study.

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

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

Preliminary experience with the low profile VBX as bridging stent-graft in fenestrated and branched endovascular aortic repair.

The Journal of cardiovascular surgery·2026

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Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

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Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab.

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.

An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.

Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.

Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report.

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.

Repetitive nerve stimulation in juvenile myasthenia gravis: Diagnostic strategy and area decrement value.

Prognostic utility of the NEOS score in pediatric antibody-negative encephalitis: A cohort study.

Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey.

Paradoxical reactions in pediatric HIV-negative CNS tuberculosis: A longitudinal cohort study.

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.

Preliminary experience with the low profile VBX as bridging stent-graft in fenestrated and branched endovascular aortic repair.

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Bench testing of bridging stent-grafts in fenestrated and branched endovascular aortic repair: a scoping review.

Right ventricular pressure overload disturbs T-tubule maturation via MEF2D's transcriptional regulation of BIN1.

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Effects of Extended ICU Length of Stay on Braden Scale Validity: A Retrospective Analysis.

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Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

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