Stefania Della Vecchia; Nicola Gammaldi; Ivana Ricca; Serena Mero; Stefano Doccini; Anna Ardissone; Silvia Bagnoli; Roberta Battini; Elisa Colombi; Jacopo Favaro; Roberto Furlan; Lucio Giordano; Assunta Ingannato; Alessandra Mandelli; Francesca Maria Paola Manzoni; Giuseppe Milito; Isabella Moroni; Benedetta Nacmias; Nardo Nardocci; Lucio Parmeggiani; Francesco Pezzini; Nicola Pietrafusa; Stefano Sartori; Nicola Specchio; Marina Trivisano; A.-N. C. L. ETS; Alessandro Simonati; Filippo Maria Santorelli

Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20

杜氏肌营养不良症上肢进展：基于36个月纵向研究使用PUL 20的见解

Journal of Neuromuscular Diseases

IF3.4

2025-09-180

Giorgia Coratti; Marika Pane; Sophia Paolucci; Luca Bello; Adele D’Amico; Angela Berardinelli; Michela Catteruccia; Giacomo De Luca; Riccardo Masson; Riccardo Zanin; Roberta Battini; Claudia Dosi; Silvia Frosini; Alice Gardani; Bianca Buchignani; Anna Capasso; Federica Ricci; Gianpaolo Cicala; Ilaria Cavallina; Enrica Rolle; Tiziana Enrica Mongini; Valeria Ada Sansone; Emilio Albamonte; Antonella Pini; Melania Giannotta; Chiara Panicucci; Riccardo Not; Claudio Bruno; Vincenzo Nigro; Esther Picillo; Elena Pegoraro; Eugenio Mercuri

Movement Disorders Rating Scale for Children Aged 0-3 years: A Revision Study Design

0-3岁儿童运动障碍评分量表：修订研究设计

Pediatric Neurology

IF2.1

2025-08-050

PRE

Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity

Aicardi-Goutières综合征患者（RNASEH2B基因p.Ala177Thr变异纯合子）的多中心国际队列的临床特征：疾病严重程度的早期临床标志物

Pediatric Neurology

IF2.1

2025-07-250

OAAI

Screening of Neurodevelopmental and Psychiatric Disorders in School-Aged Children from Sahrawi Refugee Camp: A Cross-Sectional Observational Study

JOURNAL OF CLINICAL MEDICINE

IF2.9

2025-03-180

OAAI

Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey

意大利杜氏肌营养不良症的患病率: 一项全国性调查

EUROPEAN JOURNAL OF PEDIATRICS

IF2.6

2024-12-160

PRE

Capasso, Anna; Cicala, Gianpaolo; Ricci, Martina; Pane, Marika; D'Amico, Adele; Bruno, Claudio; Sansone, Valeria Ada; Messina, Sonia; Bello, Luca; Pegoraro, Elena; D'Angelo, Maria Grazia; Masson, Riccardo; Berardinelli, Angela; Pini, Antonella; Ricci, Federica; Mongini, Tiziana Enrica; Coccia, Michela; Nigro, Vincenzo; Trabacca, Antonio; Filosto, Massimiliano; Comi, Giacomo; Magri, Francesca; Barp, Andrea; Battini, Roberta; Previtali, Stefano Carlo; Valentino, Maria Lucia; Diella, Eleonora; Dosi, Claudia; Ruggiero, Lucia; Siciliano, Gabriele; Ricci, Giulia; Catteruccia, Michela; Arpaia, Chiara; Coratti, Giorgia; Norcia, Giulia; Bonanno, Silvia; Verriello, Lorenzo; Agosto, Caterina; Varone, Antonio; Ferlini, Alessandra; Maioli, Maria Antonietta; Brogna, Claudia; Siliquini, Sabrina; Bruno, Irene; Panicucci, Chiara; Allegra, Cosimo; Albamonte, Emilio; Mercuri, Eugenio; Italian DMD Grp, Concetta

Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity

贝克肌营养不良的自然史：DMD基因突变预测临床严重程度

BRAIN

IF11.7

2024-11-050

PRE

Gorgoglione, Domenico; Sabbatini, Daniele; Riguzzi, Pietro; Capece, Giuliana; Pane, Marika; Servidei, Serenella; Briganti, Marta; Sancricca, Cristina; Bruschi, Fabio; Ardissone, Anna; Masson, Riccardo; Gallone, Annamaria; Maggi, Lorenzo; Picillo, Esther; Politano, Luisa; Petrosino, Angela; Vianello, Sara; Penzo, Martina; Villa, Matteo; Sframeli, Maria; Allegra, Cosimo; Barp, Andrea; Di Bari, Alessandra; Salmin, Francesca; Albamonte, Emilio; Colacicco, Giovanni; Panicucci, Chiara; Traverso, Monica; Palermo, Concetta; Lerario, Alberto; Velardo, Daniele; D'Angelo, Maria G.; Berardinelli, Angela; Gardani, Alice; Nicotra, Roberta; Parravicini, Stefano; Siciliano, Gabriele; Ricci, Giulia; Torri, Francesca; Gadaleta, Giulio; Urbano, Guido; Rolle, Enrica; Ricci, Federica; D'Amico, Adele; Catteruccia, Michela; Pini, Antonella; Giannotta, Melania; Battini, Roberta; Marinella, Gemma; Previtali, Stefano C.; Zambon, Alberto A.; Ferlini, Alessandra; Fortunato, Fernanda; Magri, Francesca; Mongini, Tiziana E.; Sansone, Valeria A.; Bruno, Claudio; Messina, Sonia; Nigro, Vincenzo; Moroni, Isabella; Mercuri, Eugenio; Bello, Luca; Pegoraro, Elena

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-10-243

OAAI

Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A.; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A.; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F.; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M.; Bouman, Arjan; Bruel, Ange-Line; Busk, Oyvind Lovold; Campeau, Philippe M.; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J.; Earl, Dawn L.; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J.; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D.; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J.; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S.; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M.; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M.; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B. A.; Guillemot, Francois; Dobyns, William B.; Viskochil, David; Dias, Cristina

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-10-111

OAAI

D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R.; Morelli, Federica; Ramadza, Danijela Petkovic; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria

Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy

1型强直性肌营养不良儿童报告的睡眠障碍与行为问题之间的关联-意大利回顾性分析的结果

JOURNAL OF CLINICAL MEDICINE

IF2.9

2024-09-140

OAAI

Trucco, Federica; Lizio, Andrea; Roma, Elisabetta; di Bari, Alessandra; Salmin, Francesca; Albamonte, Emilio; Casiraghi, Jacopo; Pozzi, Susanna; Becchiati, Stefano; Antonaci, Laura; Salvalaggio, Anna; Catteruccia, Michela; Tosi, Michele; Marinella, Gemma; Danti, Federica R.; Bruschi, Fabio; Veneruso, Marco; Parravicini, Stefano; Fiorillo, Chiara; Berardinelli, Angela; Pini, Antonella; Moroni, Isabella; Astrea, Guja; Battini, Roberta; D'Amico, Adele; Ricci, Federica; Pane, Marika; Mercuri, Eugenio M.; Johnson, Nicholas E.; Sansone, Valeria A.

Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus

通过3-OMD检测识别潜在的症状和体征集群，以优先考虑患者进行AADCd筛查的资格：一项意大利德尔菲共识

Behavioural Neurology

IF2.3

2024-04-090

OAAI

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency

HUMAN GENOMICS

IF4.3

2024-03-221

OAAI

Roberta Battini

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