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D

Davide Tonduti

Vittore Buzzi Children's Hospital
H指数:33
被引数:4,259
浏览量:0

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DAT-SPECT findings in POLR3A-related striatal variant: a case report and literature review

<em>POLR3A</em>相关纹状体变异型DAT-SPECT检查结果：病例报告与文献综述

PARKINSONISM & RELATED DISORDERS
IF3.4
2026-10-200
PRE
Fabio Bruschi; Ylenia Vaia; Clara Eleonora Antonello; Michela Zotta; Giana Izzo; Silvia Daniela Morbelli; Davide Tonduti
Endocrine system disturbances in children with inherited metabolic diseases: a narrative review

儿童遗传性代谢病患者内分泌系统紊乱：一篇叙述性综述

Frontiers in Endocrinology
IF4.6
2025-12-170
OAAI
Veronica Maria Tagi; Laura Fiori; Chiara Montanari; Davide Tonduti; Matilde Ferrario; Mirko Gambino; Ilenia Pia Greco; Alessandra Cecchini; Valeria Calcaterra; Gianvincenzo Zuccotti; Elvira Verduci
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes

GFAP变异在I型亚历山大病亚型中的基因型-表型相关性

Molecular Genetics and Metabolism
IF3.5
2025-11-300
OAAI
Tiziana Bachetti; Ylenia Vaia; Alice Grossi; Francesca Rosamilia; Enrico Bertini; Francesco Nicita; Deianira Bellitto; Florian Eichler; Geneviève Bernard; Amanda Nagy; Ayelet Zerem; Morteza Heidari; Ali Reza Tavasoli; Isabella Moroni; Isabella Ceccherini; Davide Tonduti
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency

MCT8缺乏症中多巴胺代谢的改变以及对左旋多巴/卡比多巴治疗的反应

Movement Disorders
IF7.6
2025-10-270
OAAI
Fabio Bruschi MD; Ylenia Vaia MD; Clara E. Antonello PT; Marco Spada MD; Francesco Porta MD, PhD; Cristina Marinaccio MD; Claudia Carducci MSc, PhD; Thomas Opladen MD, PhD; Jacopo Sartorelli MD; Federica Maria Zibordi MD; Daniele Ghezzi MSc, PhD; Francesco Nicita MD, PhD; Davide Tonduti MD, PhD
Critical functional domains in pediatric onset TUBB4A-related leukodystrophy: a clinical and caregiver’s perspective

儿童期发病的TUBB4A相关白质脑病的核心功能域：临床与照护者视角

Pediatric Neurology
IF2.1
2025-10-030
PRE
Francesco Gavazzi; Virali Patel; Jacqueline A. Erler; Brittany Charsar; Ylenia Vaia; Anjana Sevagamoorthy; Ariel Vincent; Sarah Woidill; Evangeline Wassmer; Henry Houlden; Angeles Garcia- Cazorla; Davide Tonduti; Nicole I. Wolf; Marjo Van der Knaap; Geneviève Bernard; Laura A. Adang; Adeline Vanderver
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

意大利X-连锁肾上腺脑白质营养不良的新生儿筛查：一项为期4年的试点研究的临床与生化结果

International Journal of Neonatal Screening 2025, Vol. 11, Page 84
IF4
2025-09-270
OAAI
Eleonora Bonaventura; Fabio Bruschi; Luisella Alberti; Clara Antonello; Filippo Arrigoni; Marina Balestriero; Barbara Borsani; Laura Cappelletti; Elisa Cattaneo; Matilde Ferrario; Giulia Fiore; Maria Iascone; Giana Izzo; Simona Lucchi; Cecilia Parazzini; Michela Perrone Donnorso; Luigina Spaccini; Ylenia Vaia; Pierangelo Veggiotti; Elvira Verduci; Gianvincenzo Zuccotti; Cristina Cereda; Davide Tonduti; XALD-NBS Study Group
The impact of leukodystrophies on parents' lives

白质营养不良对父母生活的影响

JOURNAL OF PEDIATRIC PSYCHOLOGY
IF2.1
2025-08-010
OAAI
Zampini, Laura; Cordolcini, Laura; Draghi, Lara; Zanchi, Paola; Vaia, Ylenia; Bonaventura, Eleonora; Tonduti, Davide
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
Costanza Varesio; Davide Politano; Laura Adang; Elena Ballante; Roberta Battini; Enrico Bertini; Renato Borgatti; Valentina De Giorgis; Annamaria Del Boca; Francesca Dragoni; Elisa Fazzi; Jessica Galli; Jessica Garau; Francesco Gavazzi; Alice Gardani; Roberta La Piana; Isabella Moroni; Francesco Nicita; Anna Pichiecchio; Antonella Pini; Federica Ricci; Stefano Sartori; Davide Tonduti; Adeline Vanderver; Simona Orcesi
Comprehensive Genotype-Phenotype Analysis in POLR3-Related Disorders

POLR3相关疾病的全面基因型-表型分析

Human Genetics and Genomics Advances
IF3.6
2025-07-180
OAAI
Mackenzie A. Michell-Robinson; Stefanie Perrier; Samuel Gauthier; Alexa Derksen; Quentin Sabbagh; Mathias Girbig; Agata D. Misiaszek; Amy M. Pizzino; Deborah L. Renaud; Danilo De Assis Pereira; Paola Okuda; Luciana Maestri Karoleska; Stephanie Keller; Karen Chong; Laurence Gauquelin; Bernard Brais; Barbara Leube; Tiffany Grider; Michael E. Shy; Rebecca Schüle; Martina Minnerop; Enrico Bertini; Francesco Nicita; Davide Tonduti; Christoph W. Müller; Adeline Vanderver; Nicole I. Wolf; Geneviève Bernard
COL4A1 and COL4A2-Related Disorders – Clinical Features, Diagnostic Guidelines, and Management.

COL4A1和COL4A2相关疾病——临床特征、诊断指南和管理。

Genetics in Medicine
IF6.2
2025-07-020
OA
Diana Tambala; Rachel Vassar; John Snow; Simona Balestrini; Anna Bersano; Stéphanie Guey; Eleonora Bonaventura; Sabrina Signorini; Stefano Sartori; Enrico Bertini; Davide Tonduti; Cecilia Parazzini; Marina Macchiaiolo; Maria Federica Pelizza; Anna Pichiecchio; Laura Massella; Thibault Coste; Simona Orcesi; Davide Politano; Giacomo Bacci; Patricia L. Musolino
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

GRIA2 p.Gly792和GRIA3 p.Gly803旁系同源获得功能变异的临床及神经发育特征

CLINICAL GENETICS
IF2.3
2025-05-200
OA
Emilie Sjøstrøm; Dorota Studniarczyk; Xinyao Dou; Rebekka S. Dahl; Vincent Cruz; Heng Wang; Sandra Mercier; Wallid Deb; Thomas Besnard; Jennifer Friedman; Miriam Essid; Sana Karoui; Lamia Ben Jemaa; Thouraya Benyounes; Gaetan Lesca; Davide Tonduti; Maria Iascone; Simona Orcesi; Melanie Fradin; Christèle Dubourg; Silvia Napuri; Stuart G. Cull-Candy; Ian D. Coombs; Mark Farrant; Allan Bayat
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
MOLECULAR GENETICS AND METABOLISM
IF3.5
2025-03-010
PRE
Gavazzi, Francesco; Charsar, Brittany; Hamilton, Eline; Erler, Jacqueline A.; Patel, Virali; Woidill, Sarah; Sevagamoorthy, Anjana; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Bonkowsky, Joshua L.; Meyerhoffer, Kelsee; Simons, Cas; Doi, Hiroshi; Satoko, Miyatake; Matsumoto, Naomichi; Delgado, Mauricio R.; Sanchez-Castillo, Meredith; Wang, Jingming; de Carvalho, Daniel Rocha; Tournev, Ivailo; Chamova, Teodora; Jordanova, Albena; Clegg, Nancy J.; Nicita, Francesco; Bertini, Enrico; Teng, Michelle; Williams, Dan; Tonduti, Davide; Houlden, Henry; Stellingwerff, Menno; Wassmer, Evangeline; Garcia-Cazorla, Angeles; Bernard, Genevieve; Mirchi, Amytice; Toutounchi, Helia; Wolf, Nicole I.; van der Knaap, Marjo S.; Shults, Justine; Adang, Laura A.; Vanderver, Adeline L.
Exploring emerging JAK inhibitors in the treatment of Aicardi-Goutières syndrome

探索新兴JAK抑制剂在Aicardi-Goutières综合征治疗中的应用

EXPERT OPINION ON EMERGING DRUGS
IF2.7
2024-12-271
PRE
Politano, Davide; Tonduti, Davide; Fazzi, Elisa; Orcesi, Simona
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology
PARKINSONISM & RELATED DISORDERS
IF3.4
2024-09-011
PRE
Garone, Giacomo; Innocenti, Alice; Grasso, Melissa; Mandarino, Alessandra; Capuano, Alessandro; Della Bella, Gessica; Frascarelli, Flaminia; Diodato, Daria; Onesimo, Roberta; Zampino, Giuseppe; Novelli, Antonio; Digilio, Maria Cristina; Bartuli, Andrea; Dentici, Maria Lisa; Parisi, Pasquale; Galosi, Serena; Tonduti, Davide; Bertini, Enrico; Sinibaldi, Lorenzo; Specchio, Nicola
Microbiota gut-brain axis: implications for pediatric-onset leukodystrophies

微生物群肠-脑轴: 对儿科发作的脑白质营养不良的影响

FRONTIERS IN NUTRITION
IF5.1
2024-07-122
OAAI
Vaia, Ylenia; Bruschi, Fabio; Tagi, Veronica Maria; Tosi, Martina; Montanari, Chiara; Zuccotti, Gianvincenzo; Tonduti, Davide; Verduci, Elvira
Role of epigenetics and alterations in RNA metabolism in leukodystrophies

表观遗传学和RNA代谢改变在脑白质营养不良中的作用

WILEY INTERDISCIPLINARY REVIEWS-RNA
IF4.8
2024-06-030
OAAI
Rey, Federica; Esposito, Letizia; Maghraby, Erika; Mauri, Alessia; Berardo, Clarissa; Bonaventura, Eleonora; Tonduti, Davide; Carelli, Stephana; Cereda, Cristina
Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease
AMERICAN JOURNAL OF NEURORADIOLOGY
IF3.7
2024-05-020
PRE
Armangue, Thais; Whitehead, Matthew T.; Tonduti, Davide; Farina, Laura; Tavasoli, Ali Reza; Vossough, Arastoo; Bennett, Mariko L.; Vaia, Ylenia; Bernard, Genevieve; Salsano, Ettore; Mercimek-Andrews, Saadet; Waldman, Amy; Vanderver, Adeline
Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1
GENES & DISEASES
IF9.4
2024-05-011
OAAI
Al Wardat, Sofian; Frassinelli, Loredana; Orecchini, Elisa; Rey, Federica; Ciafre, Silvia Anna; Galardi, Silvia; Garau, Jessica; Gagliardi, Stella; Orcesi, Simona; Tonduti, Davide; Carelli, Stephana; Cereda, Cristina; Picardi, Ernesto; Michienzi, Alessandro
The natural history of variable subtypes in pediatric-onset TUBB4A-related disorders
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-04-010
PRE
Vanderver, Adeline; Gavazzi, Francesco; Charsar, Brittany; Erler, Jacqueline; Patel, Virali; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Wassmer, Evangeline; Tonduti, Davide; Houlden, Henry; Bernard, Genevieve; Wolf, Nicole; van der Knaap, Marjo; Shults, Justine; Adang, Laura
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA- synthetase (TARS2)-related disorder
GENETICS IN MEDICINE
IF6.2
2023-11-015
OAAI
Accogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; Zaki, Maha S.; Al-Maawali, Almundher; Srinivasan, Varunvenkat M.; Al-Thihli, Khalid; Schaefer, G. Bradly; Davis, Monica; Tonduti, Davide; Doneda, Chiara; Marten, Lara M.; Muehlhausen, Chris; Gomez, Maria; Lamantea, Eleonora; Mena, Rafael; Nizon, Mathilde; Procaccio, Vincent; Begtrup, Amber; Telegra, Aida; Cui, Hong; Schulz, Heidi L.; Mohr, Julia; Biskup, Saskia; Loos, Mariana Amina; Araoz, Hilda Veronica; Salpietro, Vincenzo; Keppen, Laura Davis; Chitre, Manali; Petree, Cassidy; Raymond, Lucy; Vogt, Julie; Sawyer, Lindsey B.; Basinger, Alice A.; Pedersen, Signe Vandal; Pearson, Toni S.; Grange, Dorothy K.; Lingappa, Lokesh; Mcdunnah, Paige; Horvath, Rita; Cogne, Benjamin; Isidor, Bertrand; Hahn, Andreas; Gripp, Karen W.; Jafarnejad, Seyed Mehdi; Stergaard, Elsebet; Prada, Carlos E.; Ghezzi, Daniele; Gowda, Vykuntaraju K.; Taylor, Robert W.; Sonenberg, Nahum; Houlden, Henry; Sissler, Marie; Varshney, Gaurav K.; Maroofian, Reza

研究方向

暂未获取到该数据
S
Simona Orcesi
H 指数:44论文数:255被引数:9,105
A
Adeline Vanderver
H 指数:59论文数:390被引数:1.4万
G
Geneviève Bernard
H 指数:44论文数:264被引数:7,731
E
Enrico Bertini
H 指数:113论文数:1,266被引数:5.5万
N
Nicole I. Wolf
H 指数:60论文数:714被引数:1.1万
M
Marjo S. van der Knaap
H 指数:98论文数:806被引数:3.3万
Y
Ylenia Vaia
H 指数:4论文数:24被引数:50
O
Odile Boespflug‐Tanguy
H 指数:56论文数:354被引数:1.0万
F
Francesco Gavazzi
H 指数:14论文数:71被引数:902
I
Isabella Moroni
H 指数:52论文数:300被引数:8,645