日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance

PTPN1相关的自身炎症是低外显率Aicardi-Goutières综合征的常见病因

Calame, Daniel G; Wiener, Emma K; Gavazzi, Francesco; Sevagamoorthy, Anjana; Pizzino, Amy; Arnold, Kaley; Dominguez Gonzalez, Carlos; Jammihal, Tejas; Bennett, Mariko; Adang, Laura; Woidill, Sarah; Whitehead, Matthew T; Vossough, Arastoo; D'Aiello, Russell; Takanohashi, Asako; Lele, Janhavi; Simons, Cas; Rius, Rocio; Formaini, Edward; Sullivan, Kathleen E; Andzelm, Milena; Ebrahimi-Fakhari, Darius; Otten, Catherine; Wong, Stephen; Reynolds, Thomas; Schiffmann, Raphael; Wolf, Nicole I; Waisfisz, Quinten; Niermeijer, Jikke-Mien; DeMarzo, Danielle; Dawood, Moez; Gandhi, Mira; Levine, Jesse M; Chinn, Ivan K; Fisher, Kristen; Emrick, Lisa; Alam, Chadi Al; Kaiyrzhanov, Rauan; Maroofian, Reza; Houlden, Henry; Jhangiani, Shalini N; Mehta, Heer H; Muzny, Donna M; Sedlazeck, Fritz J; Posey, Jennifer E; Lupski, James R; Gibbs, Richard A; Rajagopalan, Ramakrishnan; Vanderver, Adeline

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

儿童期发病的TUBB4A相关脑白质营养不良症不同亚型的自然病程

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, Geneviève; Mirchi, Amytice; Toutounchi, Helia; Wolf, Nicole I; van der Knaap, Marjo S; Shults, Justine; Adang, Laura A; Vanderver, Adeline L

Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration

β-螺旋桨蛋白相关神经退行性疾病健康概念的确定

Kotes, Emma; Gavazzi, Francesco; Woidill, Sarah; Sevagamoorthy, Anjana; Yang, Eric; Smith, Vanessa; Dubbs, Holly; Pierce, Samuel R; Pucci, Kristy; Vithayathil, Joseph; Thakur, Nivedita; Adang, Laura A

Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome

艾卡迪-古蒂埃综合征患儿照护者的经历与希望

Gavazzi, Francesco; Martin, Ashley; Sevagamoorthy, Anjana; Vaia, Ylenia; Vincent, Ariel; Woidill, Sarah; D'Aiello, Russell 3rd; DeMauro, Sara B; Lorch, Scott A; Vanderver, Adeline; Adang, Laura A

Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families

对多重硫酸酯酶缺乏症患者及其家庭生活经历的探索

Gavazzi, Francesco; Yu, Emily; Tashnim, Zarrin; Woidill, Sarah; Sevagamoorthy, Anjana; Arnold, Kaley; Ammann-Schnell, Louisa; Groeschel, Samuel; Krägeloh-Mann, Ingeborg; Breitling, Vivian; Schlotawa, Lars; Ahrens-Nicklas, Rebecca; Adang, Laura A

Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome

艾卡迪-古蒂埃综合征患儿的非语言认知技能

Gavazzi, Francesco; Vaia, Ylenia; Woidill, Sarah; Formanowski, Brielle; Peixoto de Barcelos, Isabella; 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

IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies

IFN信号通路基因表达作为单基因干扰素病诊断生物标志物

Adang, Laura A; D'Aiello, Russell; Takanohashi, Asako; Woidill, Sarah; Gavazzi, Francesco; Behrens, Edward M; Sullivan, Kathleen E; Goldbach-Mansky, Raphaela; de Jesus, Adriana A; Vanderver, Adeline; Shults, Justine

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

基于真实世界数据的罕见病纵向自然史研究:机遇与新方法

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; Van Haren, Keith P; Woidill, Sarah; Barcelos, Isabella; Pizzino, Amy; Schmidt, Johanna L; Eichler, Florian; Fatemi, Ali; Vanderver, Adeline

Systemic complications of Aicardi Goutières syndrome using real-world data

利用真实世界数据探讨艾卡迪-古蒂埃综合征的全身并发症

Peixoto de Barcelos, Isabella; Jan, Amanda K; Modesti, Nicholson; Woidill, Sarah; Gavazzi, Francesco; Isaacs, David; D'Aiello, Russell; Sevagamoorthy, Anjana; Charlton, Lauren; Pizzino, Amy; Schmidt, Johanna; van Haren, Keith; Keller, Stephanie; Eichler, Florian; Emrick, Lisa T; Fraser, Jamie L; Shults, Justine; Vanderver, Adeline; Adang, Laura A

Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome

艾卡迪-古蒂埃综合征精细运动和视觉运动技能的特征

Cusack, Stacy V; Gavazzi, Francesco; de Barcelos, Isabella Peixoto; Modesti, Nicholson B; Woidill, Sarah; Formanowski, Brielle; DeMauro, Sara B; Lorch, Scott; Vincent, Ariel; Jawad, Abbas F; Estilow, Timothy; Glanzman, Allan M; Vanderver, Adeline; Adang, Laura A