Works by Madia, Francesca

Results: 39

MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy.

Published in:

Epileptic Disorders, 2023, v. 25, n. 6, p. 874, doi. 10.1002/epd2.20141

By:

Boeri, Silvia;
Scala, Marcello;
Madia, Francesca;
Perucco, Francesca;
Vozzi, Diego;
Capra, Valeria;
Zara, Federico;
Nobili, Lino;
Mancardi, Maria Margherita

Publication type:

Article

Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families.

Published in:

Neurogenetics, 2008, v. 9, n. 2, p. 139, doi. 10.1007/s10048-008-0118-4

By:

Madia, Francesca;
Striano, Pasquale;
Bonaventura, Carlo;
Falco, Arturo;
Falco, Fabrizio;
Manfredi, Mario;
Casari, Giorgio;
Striano, Salvatore;
Minetti, Carlo;
Zara, Federico

Publication type:

Article

Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 8, p. 1003, doi. 10.1002/pd.6596

By:

Biancotto, Giulia;
Rosti, Giulia;
Madia, Francesca;
Capra, Valeria;
Scala, Marcello;
Aleo, Elena;
Paladini, Dario

Publication type:

Article

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

Published in:

Human Mutation, 2023, p. 1, doi. 10.1155/2023/3160653

By:

Chelleri, Cristina;
Scala, Marcello;
De Marco, Patrizia;
Guerriero, Vittorio;
Ognibene, Marzia;
Madia, Francesca;
Guerrisi, Sara;
Di Duca, Marco;
Torre, Michele;
Tamburro, Serena;
Scudieri, Paolo;
Piccolo, Gianluca;
Mattioli, Girolamo;
Buffelli, Francesca;
Uva, Paolo;
Vozzi, Diego;
Fulcheri, Ezio;
Striano, Pasquale;
Diana, Maria Cristina;
Zara, Federico

Publication type:

Article

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1299, doi. 10.1002/humu.24414

By:

Scala, Marcello;
Drouot, Nathalie;
MacLennan, Suzanna C.;
Wessels, Marja W.;
Krygier, Magdalena;
Pavinato, Lisa;
Telegrafi, Aida;
de Man, Stella A.;
van Slegtenhorst, Marjon;
Iacomino, Michele;
Madia, Francesca;
Scudieri, Paolo;
Uva, Paolo;
Giacomini, Thea;
Nobile, Giulia;
Mancardi, Maria Margherita;
Balagura, Ganna;
Galloni, Giovanni Battista;
Verrotti, Alberto;
Umair, Muhammad

Publication type:

Article

Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting.

Published in:

Genes, 2023, v. 14, n. 2, p. 500, doi. 10.3390/genes14020500

By:

Saia, Federica;
Prato, Adriana;
Saccuzzo, Lucia;
Madia, Francesca;
Barone, Rita;
Fichera, Marco;
Rizzo, Renata

Publication type:

Article

High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome.

Published in:

2019

By:

Bernardo, Pia;
Del Gaudio, Luigi;
Madia, Francesca;
Riccio, Maria Pia;
Marino, Maria;
Santoro, Claudia;
Caccavale, Carmela;
Striano, Salvatore;
Bravaccio, Carmela;
Coppola, Antonietta

Publication type:

journal article

pSTAT1, pSTAT3, and T-bet as markers of disease activity in chronic inflammatory demyelinating polyradiculoneuropathy.

Published in:

Journal of the Peripheral Nervous System, 2009, v. 14, n. 2, p. 107, doi. 10.1111/j.1529-8027.2009.00220.x

By:

Madia, Francesca;
Frisullo, Giovanni;
Nociti, Viviana;
Conte, Amelia;
Luigetti, Marco;
Grande, Alessandra Del;
Patanella, Agata Katia;
Iorio, Raffaele;
Tonali, Pietro Attilio;
Batocchi, Anna Paola;
Sabatelli, Mario

Publication type:

Article

Pathological Findings in Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Single-Center Experience.

Published in:

Brain Sciences (2076-3425), 2020, v. 10, n. 6, p. 383, doi. 10.3390/brainsci10060383

By:

Luigetti, Marco;
Romano, Angela;
Di Paolantonio, Andrea;
Bisogni, Giulia;
Rossi, Salvatore;
Conte, Amelia;
Madia, Francesca;
Sabatelli, Mario

Publication type:

Article

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.

Published in:

Muscle & Nerve, 2008, v. 38, n. 2, p. 1060, doi. 10.1002/mus.21083

By:

Luigetti, Marco;
Conte, Amelia;
Madia, Francesca;
Mereu, Maria Lucia;
Zollino, Marcella;
Marangi, Giuseppe;
Pomponi, Maria Grazia;
Liberatore, Giuseppe;
Tonali, Pietro Altilio;
Sabatelli, Mario

Publication type:

Article

Abnormal vascular smooth muscle cell proliferation in sural nerve biopsy from a patient with sensorimotor axonal neuropathy.

Published in:

Neuropathology, 2011, v. 31, n. 2, p. 197, doi. 10.1111/j.1440-1789.2010.01179.x

By:

Luigetti, Marco;
Conte, Amelia;
Madia, Francesca;
Modoni, Anna;
Montano, Nicola;
Lauriola, Libero;
Tasca, Giorgio;
Del Grande, Alessandra;
Tonali, Pietro Attilio;
Sabatelli, Mario

Publication type:

Article

Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63824

By:

Chelleri, Cristina;
Brolatti, Noemi;
De Marco, Patrizia;
Ognibene, Marzia;
Diana, Maria Cristina;
Madia, Francesca;
Duca, Marco Di;
Santangelo, Andrea;
Capra, Valeria;
Striano, Pasquale;
Zara, Federico;
Scala, Marcello

Publication type:

Article

Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 1, p. e1, doi. 10.1093/brain/awac323

By:

Scala, Marcello;
Grandis, Elisa De;
Nobile, Giulia;
Iacomino, Michele;
Madia, Francesca;
Capra, Valeria;
Nobili, Lino;
Zara, Federico;
Striano, Pasquale

Publication type:

Article

Unilateral Lisch nodules in a pediatric patient: a sign for genetic mosaicism?

Published in:

Minerva Pediatrics, 2023, v. 75, n. 1, p. 137, doi. 10.23736/S2724-5276.20.06134-4

By:

ORSINI, Alessandro;
SANTANGELO, Andrea;
BONUCCELLI, Alice;
RAGONE, Maria C.;
FOIADELLI, Thomas;
SAVASTA, Salvatore;
MADIA, Francesca;
PERONI, Diego;
STRIANO, Pasquale

Publication type:

Article

Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.

Published in:

Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2023.1326552

By:

Romano, Ferruccio;
Amadori, Elisabetta;
Madia, Francesca;
Severino, Mariasavina;
Capra, Valeria;
Rizzo, Renata;
Barone, Rita;
Corradi, Beatrice;
Maragliano, Luca;
Shams Nosrati, Mohammad Sadegh;
Falace, Antonio;
Striano, Pasquale;
Zara, Federico;
Scala, Marcello

Publication type:

Article

Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study.

Published in:

Frontiers in Oncology, 2020, v. 11, p. 1, doi. 10.3389/fonc.2020.00795

By:

Garibotto, Federica;
Madia, Francesca;
Milanaccio, Claudia;
Verrico, Antonio;
Piccardo, Arnoldo;
Tortora, Domenico;
Piatelli, Gianluca;
Diana, Maria Cristina;
Capra, Valeria;
Garrè, Maria Luisa;
Rossi, Andrea;
Morana, Giovanni

Publication type:

Article

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 20, p. 3997, doi. 10.1093/hmg/ddp339

By:

Sabatelli, Mario;
Eusebi, Fabrizio;
Al-Chalabi, Ammar;
Conte, Amelia;
Madia, Francesca;
Luigetti, Marco;
Mancuso, Irene;
Limatola, Cristina;
Trettel, Flavia;
Sobrero, Fabrizia;
Di Angelantonio, Silvia;
Grassi, Francesca;
Di Castro, Amalia;
Moriconi, Claudia;
Fucile, Sergio;
Lattante, Serena;
Marangi, Giuseppe;
Murdolo, Marina;
Orteschi, Daniela;
Del Grande, Alessandra

Publication type:

Article

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Published in:

Cancers, 2023, v. 15, n. 6, p. 1916, doi. 10.3390/cancers15061916

By:

Ognibene, Marzia;
Scala, Marcello;
Iacomino, Michele;
Schiavetti, Irene;
Madia, Francesca;
Traverso, Monica;
Guerrisi, Sara;
Di Duca, Marco;
Caroli, Francesco;
Baldassari, Simona;
Tappino, Barbara;
Romano, Ferruccio;
Uva, Paolo;
Vozzi, Diego;
Chelleri, Cristina;
Piatelli, Gianluca;
Diana, Maria Cristina;
Zara, Federico;
Capra, Valeria;
Pavanello, Marco

Publication type:

Article

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.

Published in:

Cancers, 2021, v. 13, n. 8, p. 1879, doi. 10.3390/cancers13081879

By:

Scala, Marcello;
Schiavetti, Irene;
Madia, Francesca;
Chelleri, Cristina;
Piccolo, Gianluca;
Accogli, Andrea;
Riva, Antonella;
Salpietro, Vincenzo;
Bocciardi, Renata;
Morcaldi, Guido;
Di Duca, Marco;
Caroli, Francesco;
Verrico, Antonio;
Milanaccio, Claudia;
Viglizzo, Gianmaria;
Traverso, Monica;
Baldassari, Simona;
Scudieri, Paolo;
Iacomino, Michele;
Piatelli, Gianluca

Publication type:

Article

TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients.

Published in:

Neurological Sciences, 2013, v. 34, n. 7, p. 1057, doi. 10.1007/s10072-012-1105-y

By:

Luigetti, Marco;
Conte, Amelia;
Del Grande, Alessandra;
Bisogni, Giulia;
Madia, Francesca;
Lo Monaco, Mauro;
Laurenti, Luca;
Obici, Laura;
Merlini, Giampaolo;
Sabatelli, Mario

Publication type:

Article

Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis.

Published in:

Neurological Sciences, 2009, v. 30, n. 6, p. 517, doi. 10.1007/s10072-009-0125-8

By:

Luigetti, Marco;
Conte, Amelia;
Madia, Francesca;
Marangi, Giuseppe;
Zollino, Marcella;
Mancuso, Irene;
Dileone, Michele;
Del Grande, Alessandra;
Di Lazzaro, Vincenzo;
Tonali, Pietro Attilio;
Sabatelli, Mario

Publication type:

Article

Case of postpartum Parsonage-Turner syndrome.

Published in:

Muscle & Nerve, 2014, v. 49, n. 2, p. 294, doi. 10.1002/mus.24073

By:

Nociti, Viviana;
Monforte, Mauro;
Perna, Alessia;
Madia, Francesca;
Melchiorri, Giovanni;
Mirabella, Massimiliano

Publication type:

Article

Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting.

Published in:

International Journal of Developmental Neuroscience, 2020, v. 80, n. 4, p. 276, doi. 10.1002/jdn.10024

By:

Barone, Rita;
Gulisano, Mariangela;
Amore, Renata;
Domini, Carla;
Milana, Maria Chiara;
Giglio, Sabrina;
Madia, Francesca;
Mattina, Teresa;
Casabona, Antonino;
Fichera, Marco;
Rizzo, Renata

Publication type:

Article

Potential Role of miRNAs in the Acquisition of Chemoresistance in Neuroblastoma.

Published in:

Journal of Personalized Medicine, 2021, v. 11, n. 2, p. 107, doi. 10.3390/jpm11020107

By:

Marengo, Barbara;
Pulliero, Alessandra;
Corrias, Maria Valeria;
Leardi, Riccardo;
Farinini, Emanuele;
Fronza, Gilberto;
Menichini, Paola;
Monti, Paola;
Monteleone, Lorenzo;
Valenti, Giulia Elda;
Speciale, Andrea;
Perri, Patrizia;
Madia, Francesca;
Izzotti, Alberto;
Domenicotti, Cinzia;
Martino, Sabata;
Villa, Chiara

Publication type:

Article

Isolated compression of the ulnar motor branch due to carpal joint ganglia: clinical series, surgical technique and postoperative outcomes.

Published in:

European Journal of Orthopaedic Surgery & Traumatology, 2021, v. 31, n. 3, p. 579, doi. 10.1007/s00590-020-02807-y

By:

Saracco, Michela;
Panzera, Rocco Maria;
Merico, Barbara;
Madia, Francesca;
Pagliei, Antonio;
Rocchi, Lorenzo

Publication type:

Article

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.

Published in:

Molecular Syndromology, 2016, v. 7, n. 6, p. 337, doi. 10.1159/000450718

By:

Maini, Ilenia;
Ivanovski, Ivan;
Iodice, Alessandro;
Rosato, Simonetta;
Pollazzon, Marzia;
Mussini, Manuela;
Belligni, Elga F.;
Coutton, Charles;
Marinelli, Maria;
Barbieri, Veronica;
Napoli, Manuela;
Pascarella, Rosario;
Sartori, Chiara;
Madia, Francesca;
Fusco, Carlo;
Franchi, Fabrizia;
Street, Maria E.;
Garavelli, Livia

Publication type:

Article

Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.

Published in:

Birth Defects Research, 2022, v. 114, n. 20, p. 1440, doi. 10.1002/bdr2.2113

By:

Romano, Ferruccio;
Madia, Francesca;
De Marco, Patrizia;
Ognibene, Marzia;
Guerrisi, Sara;
Scala, Marcello;
Iacomino, Michele;
Baldassari, Simona;
Vercellino, Nadia;
Manunza, Francesca;
Tallone, Ramona;
Pavanello, Marco;
Piatelli, Gianluca;
Garaventa, Alberto;
Zara, Federico;
Capra, Valeria

Publication type:

Article

A Novel Xp22.13 Microdeletion in Nance-Horan Syndrome.

Published in:

Birth Defects Research, 2017, v. 109, n. 11, p. 866, doi. 10.1002/bdr2.1032

By:

Accogli, Andrea;
Traverso, Monica;
Madia, Francesca;
Bellini, Tommaso;
Vari, Maria Stella;
Pinto, Francesca;
Capra, Valeria

Publication type:

Article

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Published in:

Epilepsia (Series 4), 2019, v. 60, n. 5, p. e31, doi. 10.1111/epi.14657

By:

Schulz, Herbert;
Ruppert, Ann‐Kathrin;
Zara, Federico;
Madia, Francesca;
Iacomino, Michele;
S. Vari, Maria;
Balagura, Ganna;
Minetti, Carlo;
Striano, Pasquale;
Bianchi, Amedeo;
Marini, Carla;
Guerrini, Renzo;
Weber, Yvonne G.;
Becker, Felicitas;
Lerche, Holger;
Kapser, Claudia;
Schankin, Christoph J.;
Kunz, Wolfram S.;
Møller, Rikke S.;
Oliver, Karen L.

Publication type:

Article

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants.

Published in:

Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01162-w

By:

Scala, Marcello;
Anijs, Midas;
Battini, Roberta;
Madia, Francesca;
Capra, Valeria;
Scudieri, Paolo;
Verrotti, Alberto;
Zara, Federico;
Minetti, Carlo;
Vernes, Sonja C.;
Striano, Pasquale

Publication type:

Article

Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single center.

Published in:

2020

By:

Luigetti, Marco;
Di Paolantonio, Andrea;
Bisogni, Giulia;
Romano, Angela;
Conte, Amelia;
Barbato, Francesco;
Del Grande, Alessandra;
Madia, Francesca;
Rossini, Paolo Maria;
Lauretti, Liverana;
Sabatelli, Mario

Publication type:

journal article

Life-Threatening Status Epilepticus Following Gabapentin Administration in a Patient with Benign Adult Familial Myoclonic Epilepsy.

Published in:

Epilepsia (Series 4), 2007, v. 48, n. 10, p. 1995, doi. 10.1111/j.1528-1167.2007.01198.x

By:

Striano, Pasquale;
Coppola, Antonietta;
Madia, Francesca;
Pezzella, Marianna;
Zara, Federico;
Striano, Salvatore

Publication type:

Article

Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations.

Published in:

Epilepsia (Series 4), 2007, v. 48, n. 6, p. 1092, doi. 10.1111/j.1528-1167.2007.01020.x

By:

Striano, Pasquale;
Mancardi, Maria Margherita;
Biancheri, Roberta;
Madia, Francesca;
Gennaro, Elena;
Paravidino, Roberta;
Beccaria, Francesca;
Capovilla, Giuseppe;
Bernardina, Bernardo Dalla;
Darra, Francesca;
Elia, Maurizio;
Giordano, Lucio;
Gobbi, Giuseppe;
Granata, Tiziana;
Ragona, Francesca;
Guerrini, Renzo;
Marini, Carla;
Mei, Davide;
Longaretti, Francesca;
Romeo, Antonino

Publication type:

Article

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations.

Published in:

Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1629, doi. 10.1111/j.1528-1167.2006.00641.x

By:

Mancardi, Maria Margherita;
Striano, Pasquale;
Gennaro, Elena;
Madia, Francesca;
Paravidino, Roberta;
Scapolan, Sara;
dalla Bernardina, Bernardo;
Bertini, Enrico;
Bianchi, Amedeo;
Capovilla, Giuseppe;
Darra, Francesca;
Elia, Maurizio;
Freri, Elena;
Gobbi, Giuseppe;
Granata, Tiziana;
Guerrini, Renzo;
Pantaleoni, Chiara;
Parmeggiani, Antonia;
Romeo, Antonino;
Santucci, Margherita

Publication type:

Article

Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: A Study of 16 Families.

Published in:

Epilepsia (Series 4), 2006, v. 47, n. 6, p. 1029, doi. 10.1111/j.1528-1167.2006.00521.x

By:

Striano, Pasquale;
Lispi, Maria Luisa;
Gennaro, Elena;
Madia, Francesca;
Traverso, Monica;
Bordo, Laura;
Aridon, Paolo;
Boneschi, Filippo Martinelli;
Barone, Baldassare;
Bernardina, Bernardo dalla;
Bianchi, Amedeo;
Capovilla, Giuseppe;
De Marco, Pasquale;
Dulac, Olivier;
Gaggero, Roberto;
Gambardella, Antonio;
Nabbout, Rima;
Prud'homme, Jean-François;
Day, Ruth;
Vanadia, Francesca

Publication type:

Article

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease.

Published in:

Epilepsia (Series 4), 2006, v. 47, n. 3, p. 640, doi. 10.1111/j.1528-1167.2006.00479.x

By:

Franceschetti, Silvana;
Gambardella, Antonio;
Canafoglia, Laura;
Striano, Pasquale;
Lohi, Hannes;
Gennaro, Elena;
Ianzano, Leonarda;
Veggiotti, Pierangelo;
Sofia, Vito;
Biondi, Roberto;
Striano, Salvatore;
Gellera, Cinzia;
Annesi, Grazia;
Madia, Francesca;
Civitelli, Donata;
Rocca, Francesca E.;
Quattrone, Aldo;
Avanzini, Giuliano;
Minassian, Berge;
Zara, Federico

Publication type:

Article

Electroclinical and Genetic Findings in a Family with Cortical Tremor, Myoclonus, and Epilepsy.

Published in:

2005

By:

Striano, Pasquale;
Madia, Francesca;
Minetti, Carlo;
Striano, Salvatore;
Zara, Federico

Publication type:

Letter

Autosomal Recessive Idiopathic Epilepsy in an Inbred Family from Turkey: Identification of a Putative Locus on Chromosome 9q32-33.

Published in:

Epilepsia (Series 4), 2004, v. 45, n. 5, p. 479, doi. 10.1111/j.0013-9580.2004.30903.x

By:

Baykan, Betil;
Madia, Francesca;
Bebek, Nerses;
Gianotti, Stefania;
Güney, Ahmer Ilter;
Cine, Naci;
Bianchi, Amedeo;
Gökyi&gcaron;it, Ayşen;
Zara, Federico

Publication type:

Article

Lack of SCN1A Mutations in Familial Febrile Seizures.

Published in:

Epilepsia (Series 4), 2002, v. 43, n. 5, p. 559, doi. 10.1046/j.1528-1157.2002.29301.x

By:

Malacarne, Michela;
Madia, Francesca;
Gennaro, Elena;
Vacca, Daniela;
Güney, A. Ilter;
Buono, Salvatore;
Bernardina, Bernardo Dalla;
Gaggero, Roberto;
Gobbi, Giuseppe;
Lispi, Maria Luisa;
Malamaci, Daniela;
Melideo, Giustino;
Roccella, Maurizio;
Sferro, Caterina;
Tiberti, Alessandra;
Vanadia, Francesca;
Vigevano, Federico;
Viri, Franco;
Vitali, Maria Rosa;
Bricarelli, Franca Dagna

Publication type:

Article