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F

Francesco Gavazzi

childrens hospital of philadelphia
H指数:14
被引数:902

个人简介

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荣誉奖项

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Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD)

佩利扎厄斯-默茨巴赫病患者的发展轨迹

Molecular Genetics and Metabolism
IF3.5
2026-05-150
PRE
Anjana Sevagamoorthy; Sarah Woidill; Gabrielle Sudilovsky; Kaleb Kelley; Ylenia Vaia; Francesco Gavazzi; Johanna L. Schmidt; Amy Pizzino; Russel D'Aiello; Eloise Uebergang; Fabio Bruschi; Amytice Mirchi; Chihiro Abe-Hatano; Jacapo Sartorelli; Francesco Nicita; Chloe Cunningham; Davide Tonduti; Enrico Bertini; Geneviève Bernard; Ken Inoue
A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS)

一种新型以患者为中心的临床试验准备方法在罕见病中的应用：Aicardi-Goutières Syndrome (AGS) 的应用

Molecular Genetics and Metabolism
IF3.5
2026-02-080
OAAI
Anjana Sevagamoorthy; Francesco Gavazzi; Zarrin Tashnim; Peter Hong; Ylenia Vaia; Min Ae Lee-Kirsch; Despina Eleftheriou; Shanice Beerepoot; Marie Hully; Elizabeth M. Berry Kravis; Pamela Ventola; Melissa Raspa; Anne Wheeler; Sara B. DeMauro; Allan M. Glanzman; Elise Townsend; Tina Duong; Stacy Cusack; Ann T. Harrington; Samuel Pierce
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
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
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.
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-08-010
PRE
Adang, Laura Ann; Groeschel, Samuel; Grzyb, Chloe; D'Aiello, Russell; Gavazzi, Francesco; Sherbini, Omar; Bronner, Nowa; Patel, Akshilkumar; Vincent, Ariel; Sevagamoorthy, Anjana; Mutua, Sylvia; Muirhead, Kayla; Schmidt, Johanna; Pizzino, Amy; Yu, Emily; Jin, Danielle; Eichler, Florian; Fraser, Jamie L.; Emrick, Lisa; Van Haren, Keith; Boulanger, Jean-Martin; Ruzhnikov, Maura; Sylvain, Michel; Nguyen, Cam-Tu Emilie; Potic, Ana; Keller, Stephanie; Fatemi, Ali; Uebergang, Eloise; Poe, Michele; Yazdani, Pouneh Amir; Bernat, John; Lindstrom, Kristen; Bonkowsky, Joshua L.; Bernard, Genevieve; Stutterd, Chloe A.; Orchard, Paul; Gupta, Ashish O.; Ljungberg, Merete; Groenborg, Sabine; Zambon, Alberto; Locatelli, Sara; Fumagalli, Francesca; Elguen, Saskia; Kehrer, Christiane; Krageloh-Mann, Ingeborg; Shults, Justine; Vanderver, Adeline; Escolar, Maria L.
Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome
NEUROLOGY
IF8.5
2024-07-090
PRE
Gavazzi, Francesco; Vaia, Ylenia; Woidill, Sarah; Formanowski, Brielle; de Barcelos, Isabella Peixoto; Sevagamoorthy, Anjana; Modesti, Nicholson B.; Charlton, Lauren; Cusack, Stacy V.; Vincent, Ariel; D'Aiello, Russell; Jawad, Abbas; Galli, Jessica; Varesio, Costanza; Fazzi, Elisa; Orcesi, Simona; Glanzman, Allan M.; Lorch, Scott; DeMauro, Sara B.; Guez-Barber, Danielle; Waldman, Amy T.; Vanderver, Adeline; Adang, Laura A.
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

基于罕见病真实世界数据的纵向自然史研究: 机遇与新方法

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-05-015
PRE
Adang, Laura Ann; Sevagamoorthy, Anjana; Sherbini, Omar; Fraser, Jamie L.; Bonkowsky, Joshua L.; Gavazzi, Francesco; D'Aiello, Russel; Modesti, Nicholson B.; Yu, Emily; Mutua, Sylvia; Kotes, Emma; Shults, Justine; Vincent, Ariel; Emrick, Lisa T.; Keller, Stephanie; Haren, Keith P. Van; Woidill, Sarah; Barcelos, Isabella; Pizzino, Amy; Schmidt, Johanna L.; Eichler, Florian; Fatemi, Ali; Vanderver, Adeline
Preservation of cognitive skills in Aicardi Goutieres syndrome
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-04-010
PRE
Gavazzi, Francesco; Vaia, Ylenia; Woidill, Sarah; Formanowski, Brielle; de Barcelos, Isabella Peixoto; Sevagamoorthy, Anjana; Modesti, Nicholson; Cusack, Stacy; Vincent, Ariel; D'Aiello, Russell; Jawad, Abbas; Galli, Jessica; Varesio, Costanza; Fazzi, Elisa; Orcesi, Simona; Glanzman, ALlan; Lorch, Scott; DeMauro, Sara; Waldman, Amy; Adang, Laura; Vanderver, Adeline

研究方向

暂未获取到该数据
A
Adeline Vanderver
H 指数:59论文数:390被引数:1.4万
L
Laura Adang
H 指数:26论文数:126被引数:2,086
J
Justine Shults
H 指数:70论文数:445被引数:1.7万
H 指数:0论文数:63被引数:0
A
Anjana Sevagamoorthy
H 指数:6论文数:37被引数:96
H 指数:0论文数:30被引数:0
S
Simona Orcesi
H 指数:44论文数:255被引数:9,105
D
Davide Tonduti
H 指数:33论文数:168被引数:4,259
G
Geneviève Bernard
H 指数:44论文数:264被引数:7,731
A
Asako Takanohashi
H 指数:20论文数:59被引数:1,711