Works matching AU Minardi, Raffaella

Results: 14

Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2311
By:
- Licchetta, Laura;
- Di Giorgi, Lucia;
- Santucci, Margherita;
- Taruffi, Lisa;
- Stipa, Carlotta;
- Minardi, Raffaella;
- Carelli, Valerio;
- Bisulli, Francesca
Publication type:
Article
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02880-6
By:
- Pondrelli, Federica;
- Minardi, Raffaella;
- Muccioli, Lorenzo;
- Zenesini, Corrado;
- Vignatelli, Luca;
- Licchetta, Laura;
- Mostacci, Barbara;
- Tinuper, Paolo;
- Vander Kooi, Craig W.;
- Gentry, Matthew S.;
- Bisulli, Francesca
Publication type:
Article
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02880-6
By:
- Pondrelli, Federica;
- Minardi, Raffaella;
- Muccioli, Lorenzo;
- Zenesini, Corrado;
- Vignatelli, Luca;
- Licchetta, Laura;
- Mostacci, Barbara;
- Tinuper, Paolo;
- Vander Kooi, Craig W.;
- Gentry, Matthew S.;
- Bisulli, Francesca
Publication type:
Article
Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
Published in:
Clinical Genetics, 2020, v. 98, n. 5, p. 477, doi. 10.1111/cge.13823
By:
- Minardi, Raffaella;
- Licchetta, Laura;
- Baroni, Maria Chiara;
- Pippucci, Tommaso;
- Stipa, Carlotta;
- Mostacci, Barbara;
- Severi, Giulia;
- Toni, Francesco;
- Bergonzini, Luca;
- Carelli, Valerio;
- Seri, Marco;
- Tinuper, Paolo;
- Bisulli, Francesca
Publication type:
Article
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium‐chain acyl‐coenzyme A dehydrogenase deficiency.
Published in:
Epilepsia Open, 2022, v. 7, n. 4, p. 810, doi. 10.1002/epi4.12630
By:
- Cani, Ilaria;
- Pondrelli, Federica;
- Licchetta, Laura;
- Minardi, Raffaella;
- Giangregorio, Tania;
- Mostacci, Barbara;
- Muccioli, Lorenzo;
- Di Vito, Lidia;
- Fetta, Anna;
- Barba, Carmen;
- Castioni, Carlo Alberto;
- Bordugo, Andrea;
- Tinuper, Paolo;
- Bisulli, Francesca
Publication type:
Article
Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.
Published in:
BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03671-7
By:
- Yasin, Muhammad;
- Licchetta, Laura;
- Khan, Niamat;
- Ullah, Irfan;
- Jan, Zakir;
- Dawood, Muhammad;
- Ahmed, Asif Naveed;
- Azeem, Arfa;
- Minardi, Raffaella;
- Carelli, Valerio;
- Saleha, Shamim
Publication type:
Article
Epilepsy With Auditory Features: From Etiology to Treatment.
Published in:
Frontiers in Neurology, 2022, v. 12, p. 1, doi. 10.3389/fneur.2021.807939
By:
- Furia, Alessandro;
- Licchetta, Laura;
- Muccioli, Lorenzo;
- Ferri, Lorenzo;
- Mostacci, Barbara;
- Mazzoni, Stefania;
- Menghi, Veronica;
- Minardi, Raffaella;
- Tinuper, Paolo;
- Bisulli, Francesca
Publication type:
Article
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.
Published in:
Molecular Diagnosis & Therapy, 2020, v. 24, n. 5, p. 571, doi. 10.1007/s40291-020-00488-1
By:
- Dimartino, Paola;
- Mariani, Valeria;
- Marconi, Caterina;
- Minardi, Raffaella;
- Bramerio, Manuela;
- Licchetta, Laura;
- Menghi, Veronica;
- Morandi, Luca;
- Magini, Pamela;
- Mongelli, Patrizia;
- Cardinale, Francesco;
- Seri, Marco;
- Tinuper, Paolo;
- Tassi, Laura;
- Pippucci, Tommaso;
- Bisulli, Francesca
Publication type:
Article
Reply to: "Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort".
Published in:
Movement Disorders, 2023, v. 38, n. 4, p. 709, doi. 10.1002/mds.29373
By:
- Percetti, Marco;
- Monfrini, Edoardo;
- Caporali, Leonardo;
- Minardi, Raffaella;
- Carelli, Valerio;
- Valente, Enza Maria;
- Di Fonzo, Alessio
Publication type:
Article
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts.
Published in:
2022
By:
- Percetti, Marco;
- Monfrini, Edoardo;
- Caporali, Leonardo;
- Minardi, Raffaella;
- Carelli, Valerio;
- Valente, Enza Maria;
- Di Fonzo, Alessio
Publication type:
Letter
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Published in:
2022
By:
- Percetti, Marco;
- Franco, Giulia;
- Monfrini, Edoardo;
- Caporali, Leonardo;
- Minardi, Raffaella;
- La Morgia, Chiara;
- Valentino, Maria Lucia;
- Liguori, Rocco;
- Palmieri, Ilaria;
- Ottaviani, Donatella;
- Vizziello, Maria;
- Ronchi, Dario;
- Di Berardino, Federica;
- Cocco, Antoniangela;
- Macao, Bertil;
- Falkenberg, Maria;
- Comi, Giacomo Pietro;
- Albanese, Alberto;
- Giometto, Bruno;
- Valente, Enza Maria
Publication type:
journal article
Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy.
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 704, doi. 10.1002/acn3.51259
By:
- Licchetta, Laura;
- Ferri, Lorenzo;
- La Morgia, Chiara;
- Zenesini, Corrado;
- Caporali, Leonardo;
- Lucia Valentino, Maria;
- Minardi, Raffaella;
- Fulitano, Daniela;
- Di Vito, Lidia;
- Mostacci, Barbara;
- Alvisi, Lara;
- Avoni, Patrizia;
- Liguori, Rocco;
- Tinuper, Paolo;
- Bisulli, Francesca;
- Carelli, Valerio
Publication type:
Article
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 475, doi. 10.1002/acn3.722
By:
- Pippucci, Tommaso;
- Licchetta, Laura;
- Baldassari, Sara;
- Marconi, Caterina;
- De Luise, Monica;
- Myers, Candace;
- Nardi, Elena;
- Provini, Federica;
- Cameli, Cinzia;
- Minardi, Raffaella;
- Bacchelli, Elena;
- Giordano, Lucio;
- Crichiutti, Giovanni;
- d'Orsi, Giuseppe;
- Seri, Marco;
- Gasparre, Giuseppe;
- Mefford, Heather C.;
- Tinuper, Paolo;
- Bisulli, Francesca;
- Bianchi, Amedeo
Publication type:
Article
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19.
Published in:
Molecular Syndromology, 2024, v. 15, n. 2, p. 114, doi. 10.1159/000535144
By:
- Parmeggiani, Giulia;
- Minardi, Raffaella;
- Boni, Antonella;
- Pruccoli, Jacopo;
- Pini, Antonella;
- Licchetta, Laura;
- Bisulli, Francesca;
- Graziano, Claudio;
- Seri, Marco
Publication type:
Article