Publications by authors named "Simone Gana"

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Further evidence of variants causing Joubert syndrome with skeletal involvement.
Fulvio D'Abrusco, Simone Gana, Enrico Alfei, Emanuela Scarano, Francesco Nicita

J Med Genet· November 2025

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Asymmetric Parietal Cortical Atrophy in a Patient with RAB39B-Associated Parkinsonism.
Luca Gallo, Emna Ben Mansour, Silvia Nicolosi, Anna Pichiecchio, Simone Gana

Mov Disord Clin Pract· August 2025

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Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study.
Carlo Alberto Quaranta, Alice Gardani, Giulia Andorno, Anna Pichiecchio, Simone Gana

Genes (Basel)· August 2025

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Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.
Davide Politano, Cecilia Mancini, Massimiliano Celario, Francesca Clementina Radio, Fulvio D'Abrusco, Simone Gana

Genes (Basel)· July 2025

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A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature.
Davide Politano, Francesca Marazzi, Ilaria Scognamillo, Federica Morelli, Sabrina Signorini, Simone Gana

Brain Dev· June 2025

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Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2.
Simone Gana, Luisa Piccinni, Elisa Rognone, Alessia Beverino, Costanza Varesio

Neurogenetics· June 2025

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Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
Fulvio D'Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, Jessica Garau, Luca Cattaneo, Simone Gana

Eur J Hum Genet· January 2025

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De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Simone Gana

medRxiv· January 2025

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Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA--Related Ataxia.
Pierfrancesco Mitrotti, Elisa Vegezzi, Roberta Zangaglia, Ilaria Palmieri, Marie-Josée Dicaire, Simone Gana

Neurol Genet· December 2024

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National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
Davide Mei, Simona Balestrini, Elena Parrini, Antonio Gambardella, Grazia Annesi, Simone Gana

J Med Genet· December 2024

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Novel variants associated with Joubert syndrome suggest potential genotype-phenotype correlates.
Simone Gana, Fulvio D'Abrusco, Roberta Nicotra, Chiara Ghiberti, Guido Catalano

J Med Genet· December 2024

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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.
Noor Smal, Fatma Majdoub, Katrien Janssens, Edwin Reyniers, Marije E C Meuwissen, Simone Gana

Eur J Hum Genet· November 2024

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"Relapsing-Remitting" Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency.
Simone Gana, Gloria Rossetto, Jessica Garau, Valeria Vacchini, Francesca Ferraro

Mov Disord Clin Pract· November 2024

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LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?
Simone Gana, Marta Di Biagio, Laura Carraro, Gloria Rossetto, Laura Scarpelli

Am J Med Genet A· October 2024

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Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.
Mauro Lecca, Lucia Mauri, Simone Gana, Alessandra Del Longo, Federica Morelli

Clin Genet· October 2024

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Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy.
Simone Gana, Enza Maria Valente

Dev Med Child Neurol· July 2024

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Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates.
Sabrina Ravaglia, Simone Gana, Enza Maria Valente

Pediatr Res· July 2024

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Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature.
Davide Politano, Fulvio D'Abrusco, Ludovica Pasca, Francesca Ferraro, Simone Gana

Am J Med Genet A· June 2024

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Functional Study of SNCA p.V15A Variant: Further Linking α-Synuclein and Glucocerebrosidase.
Micol Avenali, Silvia Cerri, Ilaria Palmieri, Gerardo Ongari, Rita Stiuso, Simone Gana

Mov Disord· June 2024

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PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.
Annalisa Saracino, Martina Totaro, Davide Politano, Valentina DE Giorgis, Simone Gana

Neuropediatrics· April 2024

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Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Simone Gana

J Med Genet· September 2023

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Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder.
Simone Gana, Valentina Serpieri, Elisa Giorgio, Melanie Iorio, Elisa Rognone

Am J Med Genet A· May 2023

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A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot.
Davide Politano, Simone Gana, Elena Pezzotti, Angela Berardinelli, Ludovica Pasca

Brain Dev· March 2023

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Genotype-phenotype correlates in Joubert syndrome: A review.
Simone Gana, Valentina Serpieri, Enza Maria Valente

Am J Med Genet C Semin Med Genet· March 2022

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PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum.
Alessandro Borghesi, Massimo Plumari, Elena Rossi, Claudia Viganò, Rosa Maria Cerbo, Simone Gana

Am J Med Genet A· February 2022

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