Carlotta Spagnoli

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 27

Top Topics

Intellectual Disability

Dna Methylation

Top Venues

International journal of molecular sciences

American journal of medical genetics. Part A

Developmental medicine and child neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli, Carlo Fusco
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study. International journal of molecular sciences 25 (2) (2024)
Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli, Carlo Fusco
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study. International journal of molecular sciences 25 (2) (2024)
Carlotta Spagnoli, Maddalena Duca, Veronica Pelliccia, Jacopo Lanzone, Silvia Masnada, Daniela Chiarello, Tommaso Lo Barco, Fedele Dono, Bruna Nucera
Educational needs and career development of young epileptologists in Italy. Epilepsia open 9 (2) (2024)
Chiara Brugnoli, Susanna Rizzi, Carlo Alberto Cesaroni, Carlotta Spagnoli, Giovanna Pregnolato, Stefano Giuseppe Caraffi, Manuela Napoli, Rosario Pascarella, Roberta Zuntini, Francesca Peluso, Livia Garavelli, Eleonora Chiarotto, Alberta Leon, Daniele Frattini, Carlo Fusco
Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literature. American journal of medical genetics. Part A (2024)
Carlotta Spagnoli, Maddalena Duca, Veronica Pelliccia, Jacopo Lanzone, Silvia Masnada, Daniela Chiarello, Tommaso Lo Barco, Fedele Dono, Bruna Nucera
Educational needs and career development of young epileptologists in Italy. Epilepsia open 9 (2) (2024)
Carlotta Spagnoli, Maddalena Duca, Veronica Pelliccia, Jacopo Lanzone, Silvia Masnada, Daniela Chiarello, Tommaso Lo Barco, Fedele Dono, Bruna Nucera
Educational needs and career development of young epileptologists in Italy. Epilepsia open (2024)
Carlotta Spagnoli, Roberta Battini, Filippo Manti, Duccio Maria Cordelli, Andrea Pession, Melissa Bellini, Andrea Bordugo, Gaetano Cantalupo, Antonella Riva, Pasquale Striano, Marco Spada, Francesco Porta, Carlo Fusco
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients' Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus. Behavioural neurology 2024 (2024)
Carlotta Spagnoli, Carlo Fusco, Francesco Pisani
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism. International journal of molecular sciences 24 (4) (2023)
Susanna Rizzi, Carlotta Spagnoli, Melissa Bellini, Carlo Alberto Cesaroni, Elisabetta Spezia, Patrizia Bergonzini, Elisa Caramaschi, Luca Soliani, Emanuela Claudia Turco, Benedetta Piccolo, Laura Demuth, Duccio Maria Cordelli, Giacomo Biasucci, Daniele Frattini, Carlo Fusco
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders. Genes 14 (9) (2023)
Margherita Baga, Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani, Carlo Fusco
A Novel Family with Demyelinating Charcot-Marie-Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature. Children (Basel, Switzerland) 10 (5) (2023)
Carlotta Spagnoli, Carlo Fusco, Francesco Pisani
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism. International journal of molecular sciences 24 (4) (2023)
Carlotta Spagnoli, Carlo Fusco, Francesco Pisani
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism. International journal of molecular sciences 24 (4) (2023)
Carlotta Spagnoli, Carlo Fusco, Francesco Pisani
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism. International journal of molecular sciences 24 (4) (2023)
Carlo Alberto Cesaroni, Manuela Napoli, Carlotta Spagnoli, Susanna Rizzi, Daniele Frattini, Carlo Fusco
Posterior Cranial Fossa Malformation and Vascular Dysplasia in GJB2 Gene Mutation. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2023)
Francesco Pisani, Carlotta Spagnoli
What are the considerations when initiating treatment for epilepsy in children? Expert review of neurotherapeutics (2023)
Carlotta Spagnoli, Carlo Fusco, Francesco Pisani
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism. International journal of molecular sciences 24 (4) (2023)
Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani, Carlo Fusco
Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review. Behavioural neurology 2022 (2022)
Carlotta Spagnoli, Grazia G Salerno, Susanna Rizzi, Daniele Frattini, Juha Koskenvuo, Carlo Fusco
Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report. American journal of medical genetics. Part A 188 (10) (2022)
Carlotta Spagnoli, Carlo Fusco, Francesco Pisani
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review. Genes 12 (8) (2021)
Carlotta Spagnoli, Carlo Fusco, Antonio Percesepe, Vincenzo Leuzzi, Francesco Pisani
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review. International journal of molecular sciences 22 (8) (2021)
Susanna Rizzi, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Stefano Giuseppe Caraffi, Gabriele Trimarchi, Claudio Moratti, Rosario Pascarella, Livia Garavelli, Carlo Fusco
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review. American journal of medical genetics. Part A 182 (11) (2020)
Carlotta Spagnoli, Daniele Frattini, Fabrizio Gozzi, Susanna Rizzi, Grazia Gabriella Salerno, Luca Cimino, Carlo Fusco
Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy. Cerebellum (London, England) 20 (3) (2020)
Silvia Schiavoni, Carlotta Spagnoli, Susanna Rizzi, Grazia G Salerno, Daniele Frattini, Francesco Pisani, Carlo Fusco
Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study. Developmental medicine and child neurology 62 (9) (2020)
Margherita Baga, Carlotta Spagnoli, Luca Soliani, Grazia Gabriella Salerno, Susanna Rizzi, Daniele Frattini, Francesco Pisani, Carlo Fusco
Early-onset Dopamine Transporter Deficiency Syndrome: Long-term Follow-up. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 48 (2) (2020)
Carlotta Spagnoli, Susanna Rizzi, Grazia G Salerno, Daniele Frattini, Carlo Fusco
IRF2BPL gene variants: One new case. American journal of medical genetics. Part A 182 (1) (2019)
Carlotta Spagnoli, Francesco Pisani
The independent role of neonatal seizures in epilepsy and other long-term neurological outcomes. Developmental medicine and child neurology 61 (6) (2019)
Carlotta Spagnoli, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Carlo Fusco
Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report. Italian journal of pediatrics 45 (1) (2019)