Roberta Battini

University of Pisa — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

53h-index10.6kcitations349works2.52yr avg
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Research Topics

Muscle Physiology and Disorders(65), Neurogenetic and Muscular Disorders Research(38), Metabolism and Genetic Disorders(36), Genetics and Neurodevelopmental Disorders(36), Cardiomyopathy and Myosin Studies(28)

Publications348 total

A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease
Cell Death and Disease·2025Open Access
Post-Traumatic Stress Symptoms in Parents of Preschoolers First Diagnosed with Autism: Gender Differences and Correlations with Broad Autism Phenotypes
International Journal of Environmental Research and Public Health·2025· 1 citedOpen Access
Correction: Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses
Journal of Neurology·2025Open Access
Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20
Journal of Neuromuscular Diseases·2025· 1 citedOpen Access
Patterns of iron load and myelination in deep gray matter nuclei in leukodystrophies revealed by DECOMPOSE-QSM
Proceedings on CD-ROM - International Society for Magnetic Resonance in Medicine. Scientific Meeting and Exhibition/Proceedings of the International Society for Magnetic Resonance in Medicine, Scientific Meeting and Exhibition·2025
316PPerceived behavioral difficulties in neuromuscular disorders: a comparison between caregivers and pediatric patients
Neuromuscular Disorders·2025
609PTesting cognitive development in weak infants with spinal muscular atrophy: insights and challenges
Neuromuscular Disorders·2025
300PThe role of muscle MRI in mild neuromuscular disorders. where are we?
Neuromuscular Disorders·2025
Movement Disorders Rating Scale for Children Aged 0-3 years: A Revision Study Design
Pediatric Neurology·2025
Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity
Pediatric Neurology·2025Open Access
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy
Drugs in R&D·2025· 3 citedOpen Access
Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes
Stem Cell Research·2025· 2 citedOpen Access
Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson’s Disease
International Journal of Molecular Sciences·2025· 12 citedOpen Access
The involvement of central nervous system across the phenotypic spectrum of Pompe disease: a systematic review
Neuromuscular Disorders·2025· 2 cited
Screening of Neurodevelopmental and Psychiatric Disorders in School-Aged Children from Sahrawi Refugee Camp: A Cross-Sectional Observational Study
Journal of Clinical Medicine·2025Open Access
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses
Journal of Neurology·2025· 3 cited
REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic <scp>L</scp> -Amino Acid Decarboxylase Deficiency with a Guthrie Card and <i>In Silico</i> Structural Modeling of One Index Case
Genetic Testing and Molecular Biomarkers·2025Open Access
Exploring emerging JAK inhibitors in the treatment of Aicardi–Goutières syndrome
Expert Opinion on Emerging Drugs·2024· 4 cited
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey
European Journal of Pediatrics·2024· 2 citedOpen Access
Correction: Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging
PLoS ONE·2024· 1 citedOpen Access
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Frequent Co-authors

Enrico Bertini(22), Adele D’Amico(19), Marika Pane(19), Eugenio Mercuri(19), Sonia Messina(18), Angela Berardinelli(16), Tiziana Mongini(16), Antonella Pini(15), Elena Pegoraro(15), Luisa Politano(14), Elena Mazzone(13), Claudio Bruno(13), Giovanni Cioni(11), Giacomo P. Comi(11), Gian Luca Vita(11), Luca Bello(10), Giovanni Baranello(10), Filippo Cavallaro(9), Silvia Frosini(9), Francesca Magri(9)