Roberta Battini

Pisa, 56126, Italy

Last Updated: 09/26/2026

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Found 225 publications

Expanding the Phenotypic Spectrum of Raynaud-Claes Syndrome: A Rett-like Presentation with Two New Cases.

Expanding the Phenotypic Spectrum of Raynaud-Claes Syndrome: A Rett-like Presentation with Two New Cases.

Journal: Genes

Published: April 20, 2026

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

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

Assessing Internal States In Children With Neuromuscular Disorders Through An Oral Narrative Task.

Assessing Internal States In Children With Neuromuscular Disorders Through An Oral Narrative Task.

Journal: Clinical neuropsychiatry

Published: March 02, 2026

Epilepsy in refugee camps in Algeria: clinical characteristics, treatment gaps, and environmental challenges in a low-resource setting.

Epilepsy in refugee camps in Algeria: clinical characteristics, treatment gaps, and environmental challenges in a low-resource setting.

Journal: Epilepsy & behavior : E&B

Published: February 27, 2026

Muscle Imaging Approaches in Marinesco-Sjögren Syndrome: A Systematic Review and Two New Clinical Reports.

Muscle Imaging Approaches in Marinesco-Sjögren Syndrome: A Systematic Review and Two New Clinical Reports.

Journal: Children (Basel, Switzerland)

Published: February 02, 2026

Potential impact of early pharmacological treatment on gene therapy outcomes in AADC deficiency.

Potential impact of early pharmacological treatment on gene therapy outcomes in AADC deficiency.

Journal: Parkinsonism & related disorders

Published: December 26, 2025

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Journal: Molecular genetics and metabolism

Published: December 05, 2025

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

Journal: Molecular genetics and metabolism

Published: November 13, 2025

Individuation of predictive parameters of posterior cranial fossa decompression in pediatric patients with Chiari I malformation and autism spectrum disorder.

Individuation of predictive parameters of posterior cranial fossa decompression in pediatric patients with Chiari I malformation and autism spectrum disorder.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: October 19, 2025

Correction: Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses.

Correction: Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses.

Journal: Journal of neurology

Published: October 15, 2025

Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature Review.

Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature Review.

Journal: Molecular genetics & genomic medicine

Published: October 09, 2025

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

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

Showing 1-12 of 225

Last Updated: 09/26/2026