Gianpaolo Cicala - Publications

Modifying disease registries to address the evolving field in rare diseases: the iSMAc/ITASMAc experience in spinal muscular atrophy.

Journal: Frontiers in neurology

Published: March 18, 2026

Vertebral fractures and muscle function in glucocorticoid-treated individuals with Duchenne muscular dystrophy: a cohort study.

Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Published: January 05, 2026

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.

Journal: EClinicalMedicine

Published: December 17, 2025

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period.

Journal: Neurology. Genetics

Published: September 26, 2025

Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20.

Journal: Journal of neuromuscular diseases

Published: September 18, 2025

The floppy infant revisited: From bedside to genome.

Journal: Developmental medicine and child neurology

Published: July 21, 2025

Development of the "SMA NNE," a short neonatal neurological examination for newborns with spinal muscular atrophy.

Journal: European journal of pediatrics

Published: July 16, 2025

Compound Heterozygous COA7 Variants Presenting With Childhood-Onset Axonal Neuropathy in 2 Siblings.

Journal: Neurology. Genetics

Published: June 11, 2025

Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies.

Journal: Neurology. Genetics

Published: May 02, 2025

Myostatin Levels in SMA Following Disease-Modifying Treatments: A Multi-Center Study.

Journal: Annals of clinical and translational neurology

Published: February 20, 2025

What did we learn from new treatments in SMA? A narrative review.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: February 10, 2025

Identification and treatment of neurodevelopmental and mental disorders in boys and adults with Duchenne muscular dystrophy: a cohort study.

Journal: Archives of disease in childhood

Published: December 03, 2024