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Fabrizia Stregapede · SciRah

Researcher profile · Semantic Scholar

Fabrizia Stregapede

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Fabrizia Stregapede — researcher profile on SciRah

h-index: 11
Works: 22
Citations: 365

Most-cited papers

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
L. Travaglini, C. Aiello, Fabrizia Stregapede, A. D'Amico +12 more
2018Neurogenetics60 citations
Semantic Scholar
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias
Giacomo Garone, A. Capuano, L. Travaglini, Federica Graziola +5 more
2020International Journal of Molecular Sciences59 citations Open access
Semantic Scholar
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
F. Nicita, M. Ginevrino, L. Travaglini, S. D'Arrigo +21 more
2020Journal of Medical Genetics37 citations
Semantic Scholar
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations
T. Schirinzi, Federica Graziola, F. Nicita, L. Travaglini +6 more
2018Cerebellum32 citations
Semantic Scholar
A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.
Federica Graziola, Fabrizia Stregapede, L. Travaglini, Giacomo Garone +7 more
2019Parkinsonism & Related Disorders31 citations
Semantic Scholar
Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study
Federica Graziola, Giacomo Garone, Fabrizia Stregapede, L. Bosco +5 more
2019Frontiers in Genetics27 citations Open access
Semantic Scholar
Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency
Fiorella Colasuonno, A. Niceforo, C. Marioli, Anna Fracassi +6 more
2020Oxidative Medicine and Cellular Longevity22 citations Open access
Semantic Scholar
A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine
P. Imbrici, E. Conte, R. Blunck, Fabrizia Stregapede +6 more
2021International Journal of Molecular Sciences20 citations Open access
Semantic Scholar
SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia.
F. Nicita, T. Schirinzi, Fabrizia Stregapede, G. Vasco +2 more
2019European journal of paediatric neurology16 citations
Semantic Scholar
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation
Fabrizia Stregapede, L. Travaglini, A. Rebelo, V. Cintra +7 more
2019Clinical Genetics15 citations
Semantic Scholar
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants
F. Nicita, Fabrizia Stregapede, A. Tessa, M. Bassi +16 more
2019Journal of Neurology14 citations
Semantic Scholar
Movement disorders in ADAR1 disease: Insights from a comprehensive cohort.
G. Di Lazzaro, Federica Graziola, A. Sancesario, A. Insalaco +8 more
2020Parkinsonism & Related Disorders8 citations
Semantic Scholar
Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS)
F. Nicita, C. Aiello, G. Vasco, Massimiliano Valeriani +4 more
2021Brain Science7 citations Open access
Semantic Scholar
“Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant
F. Nicita, Fabrizia Stregapede, F. Deodato, S. Pizzi +13 more
2022European Journal of Human Genetics6 citations Open access
Semantic Scholar
POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.
Angela de Dominicis, Fabrizia Stregapede, V. Colona, F. Nicita +7 more
2024Seizure4 citations
Semantic Scholar
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.
M. Trivisano, Angela de Dominicis, Fabrizia Stregapede, Chiara Quintavalle +9 more
2023Epilepsy & Behavior4 citations
Semantic Scholar
MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review
Angela de Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, A. Terracciano +9 more
2025American Journal of Medical Genetics. Part A2 citations Open access
Semantic Scholar
Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene
Angela de Dominicis, Fabrizia Stregapede, M. Trivisano, F. Nicita +7 more
2025Epilepsia1 citations
Semantic Scholar
Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome
S. Ghirardo, Letizia Sabatini, A. Onofri, M. B. C. Testa +7 more
2022Italian Journal of Pediatrics1 citations Open access
Semantic Scholar
Early Clinical and EEG Association of Genotype and Outcome in Genetic Epilepsies: A Cohort Study and Hierarchical Clustering Analysis.
Angela de Dominicis, Mattia Mercier, Giusy Carfi Pavia, L. Piscitello +9 more
2026Neurology0 citations
Semantic Scholar
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia
Hieu D. Hoang, R. Spillmann, D. J. Wegner, M. Tedesco +24 more
2025Human Molecular Genetics0 citations Open access
Semantic Scholar
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations
T. Schirinzi, Federica Graziola, F. Nicita, L. Travaglini +6 more
2018Cerebellum0 citations
Semantic Scholar

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