Works matching AU Minardi, Raffaella

Results: 16

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

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

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

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

SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus.

Published in:

Epileptic Disorders, 2019, v. 21, n. 2, p. 185, doi. 10.1684/epd.2019.1046

By:

Bisulli, Francesca;
Licchetta, Laura;
Baldassari, Sara;
Muccioli, Lorenzo;
Marconi, Caterina;
Cantalupo, Gaetano;
Myers, Candace;
Menghi, Veronica;
Minardi, Raffaella;
Caporali, Leonardo;
Marini, Carla;
Guerrini, Renzo;
Mefford, Heather C.;
Tinuper, Paolo;
Pippucci, Tommaso

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

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

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

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

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

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

The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA -Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation.

Published in:

Journal of Parkinson's Disease, 2024, v. 14, n. 2, p. 335, doi. 10.3233/JPD-230334

By:

Giannini, Giulia;
Minardi, Raffaella;
Barletta, Giorgio;
Cani, Ilaria;
Cecere, Annagrazia;
Baldelli, Luca;
Fiorentino, Alessia;
Guaraldi, Pietro;
Sambati, Luisa;
Capellari, Sabina;
Cortelli, Pietro;
Carelli, Valerio;
Calandra-Buonaura, Giovanna

Publication type:

Article