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Ivana Ricca

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance
2008 · Jill Clayton-Smith, Sarah Walters, et al. · European Journal of Human Genetics · 143
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GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response
2023 · Carlo Wilke, David Pellerin, et al. · Brain · 129
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Differences and Commonalities in Children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental Disorders: A Multidimensional Perspective
2022 · Anna Maria Chilosi, Irina Podda, et al. · Journal of Personalized Medicine · 101
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Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
2018 · Angelica D'Amore, Alessandra Tessa, et al. · Frontiers in Neurology · 89
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A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea
2008 · Elena Rossi, Anna Pia Verri, et al. · European Journal of Medical Genetics · 74
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
2021 · Manuela Wiessner, Reza Maroofian, et al. · Brain · 54
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Novel CLN3 mutation causing autophagic vacuolar myopathy
2014 · Andrea Cortese, Arianna Tucci, et al. · Neurology · 46
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Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy
2019 · Federica Morani, Stefano Doccini, et al. · Scientific Reports · 45
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Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus
2006 · Claudia Torniero, Bernardo dalla Bernardina, et al. · European Journal of Human Genetics · 43
NGS in Hereditary Ataxia: When Rare Becomes Frequent
2021 · Daniele Galatolo, Giovanna De Michele, et al. · International Journal of Molecular Sciences · 33
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Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
2024 · Sara Satolli, Salvatore Rossi, et al. · Journal of Neurology · 29
New CACNA1A deletions are associated to migraine phenotypes
2018 · G. S. Grieco, S. Gagliardi, et al. · The Journal of Headache and Pain · 29
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Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation
2014 · Alessio Di Fonzo, Dario Ronchi, et al. · Neurology · 29
De novo unbalanced translocations have a complex history/aetiology
2018 · Maria Clara Bonaglia, Nehir Edibe Kurtas, et al. · Human Genetics · 27
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Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
2023 · Francesca Peluso, Stefano G Caraffi, et al. · Journal of Medical Genetics · 26
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Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network
2022 · Salvatore Rossi, Anna Rubegni, et al. · Neurology Genetics · 25
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Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52
2020 · Angelica D’Amore, Alessandra Tessa, et al. · Annals of Clinical and Translational Neurology · 25
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POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients
2021 · Ilaria Di Donato, Antonio Gallo, et al. · Neurological Sciences · 23
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COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers
2012 · Anna Pichiecchio, Roberta La Piana, et al. · Neuropediatrics · 23
Expansion of the genetic landscape of ERLIN2‐related disorders
2020 · Siddharth Srivastava, Angelica D’Amore, et al. · Annals of Clinical and Translational Neurology · 17
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Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study
2020 · Sara Calderoni, Ivana Ricca, et al. · Journal of Personalized Medicine · 15
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A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A
2023 · Annalaura Torella, Ivana Ricca, et al. · Journal of Neurology · 14
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Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
2021 · Giovanna De Michele, Daniele Galatolo, et al. · Journal of Neurology · 14
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A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21
2021 · Vittorio Riso, Daniele Galatolo, et al. · European Journal of Neurology · 14
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Clinical and molecular studies in two new cases of ARSACS
2019 · Ivana Ricca, Federica Morani, et al. · Neurogenetics · 14
Works count: 46
Citation count: 1,168
H-index: 19
I10-index: 28
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