Works by Murgia, Alessandra

Results: 42

Rhinencephalon changes in tuberous sclerosis complex.

Published in:

Neuroradiology, 2018, v. 60, n. 8, p. 813, doi. 10.1007/s00234-018-2045-x

By:

Manara, Renzo;
Brotto, Davide;
Bugin, Samuela;
Pelizza, Maria Federica;
Sartori, Stefano;
Nosadini, Margherita;
Azzolini, Sara;
Iaconetta, Giorgio;
Parazzini, Cecilia;
Murgia, Alessandra;
Peron, Angela;
Canevini, Paola;
Labriola, Francesca;
Vignoli, Aglaia;
Toldo, Irene

Publication type:

Article

Spontaneous Partial Regression of Low-Grade Glioma in Children With Neurofibromatosis-1: A Real...

Published in:

Journal of Child Neurology, 1999, v. 14, n. 6, p. 352

By:

Perilongo, Giorgio;
Moras, Paola;
Carollo, Carla;
Battistella, Antonio;
Clementi, Maurizio;
Laverda, AnnaMaria;
Murgia, Alessandra

Publication type:

Article

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

Published in:

Epilepsia (Series 4), 2010, v. 51, n. 4, p. 647, doi. 10.1111/j.1528-1167.2009.02308.x

By:

Mei, Davide;
Marini, Carla;
Novara, Francesca;
Bernardina, Bernardo D.;
Granata, Tiziana;
Fontana, Elena;
Parrini, Elena;
Ferrari, Anna R.;
Murgia, Alessandra;
Zuffardi, Orsetta;
Guerrini, Renzo

Publication type:

Article

Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families.

Published in:

International Journal of Environmental Research & Public Health, 2021, v. 18, n. 11, p. 5752, doi. 10.3390/ijerph18115752

By:

Di Giorgio, Elisa;
Polli, Roberta;
Lunghi, Marco;
Murgia, Alessandra

Publication type:

Article

Von Hippel-Lindau disease and multispecialist team.

Published in:

Journal of Neurosurgical Sciences, 2021, v. 65, n. 2, p. 213, doi. 10.23736/S0390-5616.20.04950-4

By:

PAVESI, Giacomo;
FELETTI, Alberto;
FERRARA, Alfonso M.;
ANGLANI, Mariagiulia;
SCARPA, Bruno;
SCHIAVI, Francesca;
BOARETTO, Francesca;
ZOVATO, Stefania;
TASCHIN, Elisa;
GARDI, Mario;
ZANOLETTI, Elisabetta;
PIERMAROCCHI, Stefano;
MURGIA, Alessandra;
OPOCHER, Giuseppe

Publication type:

Article

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.

Published in:

JAMA Network Open, 2022, v. 5, n. 1, p. e2141911, doi. 10.1001/jamanetworkopen.2021.41911

By:

Godler, David E.;
Ling, Ling;
Gamage, Dinusha;
Baker, Emma K.;
Bui, Minh;
Field, Michael J.;
Rogers, Carolyn;
Butler, Merlin G.;
Murgia, Alessandra;
Leonardi, Emanuela;
Polli, Roberta;
Schwartz, Charles E.;
Skinner, Cindy D.;
Alliende, Angelica M.;
Santa Maria, Lorena;
Pitt, James;
Greaves, Ronda;
Francis, David;
Oertel, Ralph;
Wang, Min

Publication type:

Article

Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation.

Published in:

Cells (2073-4409), 2023, v. 12, n. 13, p. 1711, doi. 10.3390/cells12131711

By:

Protic, Dragana;
Polli, Roberta;
Hwang, Ye Hyun;
Mendoza, Guadalupe;
Hagerman, Randi;
Durbin-Johnson, Blythe;
Hayward, Bruce E.;
Usdin, Karen;
Murgia, Alessandra;
Tassone, Flora

Publication type:

Article

Molecular analysis of two uncharacterized sequence variants of the VHL gene.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 11, p. 964, doi. 10.1007/s10038-006-0054-9

By:

Martella, Maddalena;
Salviati, Leonardo;
Casarin, Alberto;
Trevisson, Eva;
Opocher, Giuseppe;
Polli, Roberta;
Gross, David;
Murgia, Alessandra

Publication type:

Article

Volumetric image-guided conformal radiotherapy for localized prostate cancer: Analysis of dosimetric and clinical factors affecting acute and late toxicity.

Published in:

Reports of Practical Oncology & Radiotherapy, 2018, v. 23, n. 5, p. 315, doi. 10.1016/j.rpor.2018.07.010

By:

Ingrosso, Gianluca;
Carosi, Alessandra;
Cristino, Daniela di;
Ponti, Elisabetta;
Lancia, Andrea;
Bottero, Marta;
Cancelli, Alessandro;
Murgia, Alessandra;
Turturici, Irene;
Santoni, Riccardo

Publication type:

Article

Volumetric image-guided highly conformal radiotherapy of the prostate bed: Toxicity analysis.

Published in:

Reports of Practical Oncology & Radiotherapy, 2017, v. 22, n. 1, p. 64, doi. 10.1016/j.rpor.2016.10.006

By:

Ingrosso, Gianluca;
Carosi, Alessandra;
di Cristino, Daniela;
Ponti, Elisabetta;
Lancia, Andrea;
Murgia, Alessandra;
Bruni, Claudia;
Morelli, Pasquale;
Pietrasanta, Franca;
Santoni, Riccardo

Publication type:

Article

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 266, doi. 10.1038/ejhg.2012.156

By:

Fehr, Stephanie;
Wilson, Meredith;
Downs, Jenny;
Williams, Simon;
Murgia, Alessandra;
Sartori, Stefano;
Vecchi, Marilena;
Ho, Gladys;
Polli, Roberta;
Psoni, Stavroula;
Bao, Xinhua;
de Klerk, Nick;
Leonard, Helen;
Christodoulou, John

Publication type:

Article

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 4, p. 517, doi. 10.1038/ejhg.2008.201

By:

Hilgert, Nele;
Huentelman, Matthew J.;
Thorburn, Ashley Q.;
Fransen, Erik;
Dieltjens, Nele;
Mueller-Malesinska, Malgorzata;
Pollak, Agnieszka;
Skorka, Agata;
Waligora, Jaroslaw;
Ploski, Rafal;
Castorina, Pierangela;
Primignani, Paola;
Ambrosetti, Umberto;
Murgia, Alessandra;
Orzan, Eva;
Pandya, Arti;
Arnos, Kathleen;
Norris, Virginia;
Seeman, Pavel;
Janousek, Petr

Publication type:

Article

Identification of Four Novel PCDH19 Mutations and Prediction of Their Functional Impact.

Published in:

Annals of Human Genetics, 2014, v. 78, n. 6, p. 389, doi. 10.1111/ahg.12082

By:

Leonardi, Emanuela;
Sartori, Stefano;
Vecchi, Marilena;
Bettella, Elisa;
Polli, Roberta;
Palma, Luca De;
Boniver, Clementina;
Murgia, Alessandra

Publication type:

Article

Identification and In Silico Analysis of Novel von Hippel-Lindau ( VHL) Gene Variants from a Large Population.

Published in:

Annals of Human Genetics, 2011, v. 75, n. 4, p. 483, doi. 10.1111/j.1469-1809.2011.00647.x

By:

Leonardi, Emanuela;
Martella, Maddalena;
Tosatto, Silvio C.E.;
Murgia, Alessandra

Publication type:

Article

Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA).

Published in:

Annals of Human Genetics, 2010, v. 74, n. 4, p. 299, doi. 10.1111/j.1469-1809.2010.00581.x

By:

Pourová, Radka;
Janoušek, Petr;
Jurovčík, Michal;
Dvořáková, Marcela;
Malíková, Marcela;
Rašková, Dagmar;
Bendová, Olga;
Leonardi, Emanuela;
Murgia, Alessandra;
Kabelka, Zdenek;
Astl, Jaromír;
Seeman, Pavel

Publication type:

Article

Vaccination Attitude and Communication in Early Settings: An Exploratory Study.

Published in:

Vaccines, 2020, v. 8, n. 4, p. 701, doi. 10.3390/vaccines8040701

By:

Mereu, Noemi;
Mereu, Alessandra;
Murgia, Alessandra;
Liori, Arianna;
Piga, Michela;
Argiolas, Federico;
Salis, Graziella;
Santus, Simonetta;
Porcu, Carmela;
Contu, Paolo;
Sardu, Claudia

Publication type:

Article

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).

Published in:

Genes, 2020, v. 11, n. 3, p. 344, doi. 10.3390/genes11030344

By:

Leonardi, Emanuela;
Bellini, Mariagrazia;
Aspromonte, Maria C.;
Polli, Roberta;
Mercante, Anna;
Ciaccio, Claudia;
Granocchio, Elisa;
Bettella, Elisa;
Donati, Ilaria;
Cainelli, Elisa;
Boni, Stefania;
Sartori, Stefano;
Pantaleoni, Chiara;
Boniver, Clementina;
Murgia, Alessandra

Publication type:

Article

Vitamin D-Binding Protein.

Published in:

Annals of the New York Academy of Sciences, 1988, v. 538, n. 1, p. 49, doi. 10.1111/j.1749-6632.1988.tb48849.x

By:

COOKE, NANCY E.;
MURGIA, ALESSANDRA;
McLEOD, JAMES F.

Publication type:

Article

A Supervised Classification of Children with Fragile X Syndrome and Controls Based on Kinematic and sEMG Parameters.

Published in:

Applied Sciences (2076-3417), 2022, v. 12, n. 3, p. 1612, doi. 10.3390/app12031612

By:

Piatkowska, Weronika Joanna;
Spolaor, Fabiola;
Romanato, Marco;
Polli, Roberta;
Huang, Alessandra;
Murgia, Alessandra;
Sawacha, Zimi

Publication type:

Article

Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1465

By:

May, Melanie;
Colleaux, Laurence;
Murgia, Alessandra;
Aylsworth, Arthur;
Nussbaum, Robert;
Fontes, Michel;
Schwartz, Charles

Publication type:

Article

Somatic mosaicism in von Hippel-Lindau disease.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 114, doi. 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU20>3.0.CO;2-7

By:

Murgia, Alessandra;
Martella, Maddalena;
Vinanzi, Cinzia;
Polli, Roberta;
Perilongo, Giorgio;
Opocher, Giuseppe

Publication type:

Article

Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.

Published in:

Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34978-4

By:

Hagerman, Randi;
Jacquemont, Sebastien;
Berry-Kravis, Elizabeth;
Des Portes, Vincent;
Stanfield, Andrew;
Koumaras, Barbara;
Rosenkranz, Gerd;
Murgia, Alessandra;
Wolf, Christian;
Apostol, George;
von Raison, Florian

Publication type:

Article

Molecular Characterization of Large Deletions in the von Hippel-Lindau (VHL) Gene by Quantitative Real-Time PCR.

Published in:

Molecular Diagnosis & Therapy, 2006, v. 10, n. 4, p. 243, doi. 10.1007/BF03256463

By:

Casarin, Alberto;
Martella, Maddalena;
Polli, Roberta;
Leonardi, Emanuela;
Anesi, Laura;
Murgia, Alessandra

Publication type:

Article

Familial Nonsyndromic Pheochromocytoma.

Published in:

Annals of the New York Academy of Sciences, 2006, v. 1073, n. 1, p. 149, doi. 10.1196/annals.1353.015

By:

OPOCHER, GIUSEPPE;
SCHIAVI, FRANCESCA;
IACOBONE, MAURIZIO;
TONIATO, ANTONIO;
SATTAROVA, SABINA;
ERLIC, ZORAN;
MARTELLA, MADDALENA;
MIAN, CATERINA;
MERANTE BOSCHIN, ISABELLA;
ZAMBONIN, LAURA;
DE LAZZARI, PAOLA;
MURGIA, ALESSANDRA;
PELIZZO, MARIA ROSA;
FAVIA, GENNARO;
MANTERO, FRANCO

Publication type:

Article

Connexin 26 35delG does not represent a mutational hotspot.

Published in:

Human Genetics, 2003, v. 113, n. 1, p. 18, doi. 10.1007/s00439-003-0944-2

By:

Rothrock, Caryn R.;
Murgia, Alessandra;
Sartorato, Edi L.;
Leonardi, Emanuela;
Wei, Sainan;
Lebeis, Sarah L.;
Yu, Laura E.;
Elfenbein, Jill L.;
Fisher, Rachel A.;
Friderici, Karen H.

Publication type:

Article

Expanding the clinical phenotype of SHANK2-related disorders: childhood apraxia of speech in a patient with a novel SHANK2 pathogenic variant.

Published in:

2025

By:

Granocchio, Elisa;
Andreoli, Luca;
Magazù, Santina;
Sarti, Daniela;
Leonardi, Emanuela;
Murgia, Alessandra;
Ciaccio, Claudia

Publication type:

Letter to the Editor

Diencephalic syndrome and disseminated juvenile pilocytic astrocytomas of the hypothalamic-optic chiasm region.

Published in:

1997

By:

Perilongo, Giorgio;
Carollo, Carla;
Salviati, Leonardo;
Murgia, Alessandra;
Pillon, Marta;
Basso, Giuseppe;
Gardiman, Marina;
Laverda, AnnaMaria;
Perilongo, G;
Carollo, C;
Salviati, L;
Murgia, A;
Pillon, M;
Basso, G;
Gardiman, M;
Laverda, A

Publication type:

journal article

Standard or hypofractionated radiotherapy in the postoperative treatment of breast cancer: a retrospective analysis of acute skin toxicity and dose inhomogeneities.

Published in:

BMC Cancer, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2407-13-230

By:

Tortorelli, Grazia;
Di Murro, Luana;
Barbarino, Rosaria;
Cicchetti, Sara;
di Cristino, Daniela;
Daniela Falco, Maria;
Fedele, Dahlia;
Ingrosso, Gianluca;
Janniello, Dania;
Morelli, Pasquale;
Murgia, Alessandra;
Ponti, Elisabetta;
Terenzi, Sara;
Tolu, Barbara;
Santoni, Riccardo

Publication type:

Article

Standard or hypofractionated radiotherapy in the postoperative treatment of breast cancer: a retrospective analysis of acute skin toxicity and dose inhomogeneities.

Published in:

2013

By:

Tortorelli, Grazia;
Di Murro, Luana;
Barbarino, Rosaria;
Cicchetti, Sara;
di Cristino, Daniela;
Falco, Maria Daniela;
Fedele, Dahlia;
Ingrosso, Gianluca;
Janniello, Dania;
Morelli, Pasquale;
Murgia, Alessandra;
Ponti, Elisabetta;
Terenzi, Sara;
Tolu, Barbara;
Santoni, Riccardo

Publication type:

journal article

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy".

Published in:

Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.593446

By:

Leonardi, Emanuela;
Bettella, Elisa;
Pelizza, Maria Federica;
Aspromonte, Maria Cristina;
Polli, Roberta;
Boniver, Clementina;
Sartori, Stefano;
Milani, Donatella;
Murgia, Alessandra

Publication type:

Article

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Published in:

Metabolic Brain Disease, 2018, v. 33, n. 1, p. 261, doi. 10.1007/s11011-017-0150-x

By:

Falsaperla, Raffaele;
Vari, Maria Stella;
Toldo, Irene;
Murgia, Alessandra;
Sartori, Stefano;
Vecchi, Marilena;
Suppiej, Agnese;
Burlina, Alberto;
Mastrangelo, Mario;
Leuzzi, Vincenzo;
Marchiani, Valentina;
De Liso, Paola;
Capovilla, Giuseppe;
Striano, Pasquale;
Vitaliti, Giovanna;
On behalf of the Italian Society of Pediatric Neurology (SINP: Società Italiana di Neurologia Pediatrica)

Publication type:

Article

Feasibility and Reliability Assessment of Video-Based Motion Analysis and Surface Electromyography in Children with Fragile X during Gait.

Published in:

Sensors (14248220), 2021, v. 21, n. 14, p. 4746, doi. 10.3390/s21144746

By:

Sawacha, Zimi;
Spolaor, Fabiola;
Piątkowska, Weronika Joanna;
Cibin, Federica;
Ciniglio, Alfredo;
Guiotto, Annamaria;
Ricca, Marco;
Polli, Roberta;
Murgia, Alessandra

Publication type:

Article

Neurobehavioral Outcomes Relate to Activation Ratio in Female Carriers of Fragile X Syndrome Full Mutation: Two Pediatric Case Studies.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 2, p. 771, doi. 10.3390/ijms26020771

By:

Di Giorgio, Elisa;
Benavides-Varela, Silvia;
Porru, Annamaria;
Caviola, Sara;
Lunghi, Marco;
Rigo, Paola;
Mioni, Giovanna;
Calignano, Giulia;
Annunziata, Martina;
Valenza, Eloisa;
Liani, Valentina;
Beghetti, Federica;
Spolaor, Fabiola;
Bettella, Elisa;
Polli, Roberta;
Sawacha, Zimi;
Murgia, Alessandra

Publication type:

Article

Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 24, p. 13681, doi. 10.3390/ijms252413681

By:

Protic, Dragana;
Polli, Roberta;
Bettella, Elisa;
Usdin, Karen;
Murgia, Alessandra;
Tassone, Flora

Publication type:

Article

Acute and Late Toxicity after Three-Dimensional Conformal Image-Guided Radiotherapy for Localized Prostate Cancer.

Published in:

Cancer Investigation, 2014, v. 32, n. 10, p. 526, doi. 10.3109/07357907.2014.970193

By:

Ingrosso, Gianluca;
Carosi, Alessandra;
Ponti, Elisabetta;
Murgia, Alessandra;
di Cristino, Daniela;
Barbarino, Rosaria;
Benassi, Michaela;
Di Murro, Luana;
Giudice, Emilia;
Bove, Pierluigi;
Santoni, Riccardo

Publication type:

Article

Von Hippel-Lindau disease: an evaluation of natural history and functional disability.

Published in:

Neuro-Oncology, 2016, v. 18, n. 7, p. 1011, doi. 10.1093/neuonc/nov313

By:

Feletti, Alberto;
Anglani, Mariagiulia;
Scarpa, Bruno;
Schiavi, Francesca;
Boaretto, Francesca;
Zovato, Stefania;
Taschin, Elisa;
Gardi, Mario;
Zanoletti, Elisabetta;
Piermarocchi, Stefano;
Murgia, Alessandra;
Pavesi, Giacomo;
Opocher, Giuseppe

Publication type:

Article

Pathogenic Role of the X-Linked Cyclin-Dependent Kinase-Like 5 and Aristaless-Related Homeobox Genes in Epileptic Encephalopathy of Unknown Etiology With Onset in the First Year of Life.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 6, p. 683, doi. 10.1177/0883073810387827

By:

Sartori, Stefano;
Polli, Roberta;
Bettella, Elisa;
Rossato, Sara;
Andreoli, Wainer;
Vecchi, Marilena;
Giordano, Lucio;
Accorsi, Patrizia;
Di Rosa, Gabriella;
Toldo, Irene;
Zamponi, Nelia;
Darra, Francesca;
Dalla Bernardina, Bernardo;
Perilongo, Giorgio;
Boniver, Clementina;
Murgia, Alessandra

Publication type:

Article

Angelman Syndrome Due to a Novel Splicing Mutation of the UBE3A Gene.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 8, p. 912, doi. 10.1177/0883073808316367

By:

Sartori, Stefano;
Anesi, Laura;
Polli, Roberta;
Toldo, Irene;
Casarin, Alberto;
Drigo, Paola;
Murgia, Alessandra

Publication type:

Article

Advances in Understanding the Molecular Dynamics of Autosomal Dominant Auditory Neuropathy: Unveiling a Novel DIAPH3 Gene Variant Associated With Sensorineural Hearing Loss and Bilateral Vestibular Aqueduct Enlargement.

Published in:

Journal of Audiology & Otology, 2025, v. 29, n. 2, p. 151, doi. 10.7874/jao.2024.00143

By:

Miolo, Gianmaria;
Margiotta, Francesco;
Murgia, Alessandra;
Puppa, Lara Della;
Corona, Giuseppe

Publication type:

Article

Connexin 26 preverbal hearing impairment: mutation prevalence and heterozygosity in a selected population.

Published in:

International Journal of Audiology, 2002, v. 41, n. 2, p. 120, doi. 10.3109/14992020209090402

By:

Orzan, Eva;
Babighian, Gregorio;
Murgia, Alessandra;
Polli, Roberta;
Martella, Maddalena;
Zacchello, Franco;
Mazza, Alberto

Publication type:

Article

Oncologic Causes of Precocious Puberty.

Published in:

Pediatric Hematology & Oncology, 1989, v. 6, n. 4, p. 331, doi. 10.3109/08880018909034304

By:

Perilongo, Giorgio;
Rigon, Franco;
Murgia, Alessandra

Publication type:

Article

Oligometastatic cancer: stereotactic ablative radiotherapy for patients affected by isolated body metastasis.

Published in:

Acta Oncologica, 2017, v. 56, n. 11, p. 1621, doi. 10.1080/0284186X.2017.1346383

By:

Lancia, Andrea;
Ingrosso, Gianluca;
Carosi, Alessandra;
Di Murro, Luana;
Giudice, Emilia;
Cicchetti, Sara;
Morelli, Pasquale;
di Cristino, Daniela;
Bruni, Claudia;
Murgia, Alessandra;
Cancelli, Alessandro;
Turturici, Irene;
Iadevaia, Anjali;
Ponti, Elisabetta;
Santoni, Riccardo

Publication type:

Article