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R

Raphael Schiffmann

texas christian university
H指数:90
被引数:2.4万

个人简介

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教育背景

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工作经历

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荣誉奖项

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Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis

岩藻糖基化生物标志物H3N2b在GM1神经节苷脂贮积症中的诊断和治疗应用

Molecular Genetics and Metabolism
IF3.5
2026-05-170
OAAI
Pamela Kell; Sonali Mishra; Precilla D'Souza; Cynthia J. Tifft; Dennis J. Dietzen; Laura Duque Lasio; Jennifer Powers Carson; Xinying Hong; Raphael Schiffmann; María Dolores Ledesma; Nahid Tayebi; Patricia I. Dickson; Forbes D. Porter; Daniel S. Ory; Xuntian Jiang
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy

ARSA变体与认知能力下降及异染性脑白质营养不良中运动功能的长期维持相关

Journal of Inherited Metabolic Disease
IF3.8
2025-08-020
OA
Shanice Beerepoot; Daphne H. Schoenmakers; Francesca Fumagalli; Samuel Groeschel; Ludger Schöls; Raphael Schiffmann; Sheila Wong; Odile Boespflug-Tanguy; Caroline Sevin; Yann Nadjar; Annette Bley; Fanny Mochel; Morten A. Horn; Cristina Baldoli; Sara Locatelli; Holger Hengel; Lucia Laugwitz; Carla E. M. Hollak; Volkmar Gieselmann; Marjo S. van der Knaap; Nicole I. Wolf
GDF15 is a dynamic biomarker of the integrated stress response in the central nervous system

GDF15是中枢神经系统综合应激反应的动态生物标志物

CNS NEUROSCIENCE & THERAPEUTICS
IF5
2024-02-154
OA
Asundi, Jyoti; Zhang, Chunlian; Donnelly-Roberts, Diana; Solorio, Jose Zavala; Challagundla, Malleswari; Connelly, Caitlin; Boch, Christina; Chen, Jun; Richter, Mario; Maneshi, Mohammad Mehdi; Swensen, Andrew M.; Lebon, Lauren; Schiffmann, Raphael; Sanyal, Subhabrata; Sidrauski, Carmela; Kolumam, Ganesh; Baruch, Amos
Optimizing human α-galactosidase for treatment of Fabry disease
SCIENTIFIC REPORTS
IF3.9
2023-03-238
OAAI
Hallows, William C.; Skvorak, Kristen; Agard, Nick; Kruse, Nikki; Zhang, Xiyun; Zhu, Yu; Botham, Rachel C.; Chng, Chinping; Shukla, Charu; Lao, Jessica; Miller, Mathew; Sero, Antoinette; Viduya, Judy; Ismaili, Moulay Hicham Alaoui; McCluskie, Kerryn; Schiffmann, Raphael; Silverman, Adam P.; Shen, Jin-Song; Huisman, Gjalt W.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-03-0120
PRE
Koch, Rebecca L.; Soler-Alfonso, Claudia; Kiely, Bridget T.; Asai, Akihiro; Smith, Ariana L.; Bali, Deeksha S.; Kang, Peter B.; Landstrom, Andrew P.; Akman, H. Orhan; Burrow, T. Andrew; Orthmann-Murphy, Jennifer L.; Goldman, Deberah S.; Pendyal, Surekha; El-Gharbawy, Areeg H.; Austin, Stephanie L.; Case, Laura E.; Schiffmann, Raphael; Hirano, Michio; Kishnani, Priya S.
Expanded phenotype of AARS1-related white matter disease

AARS1-related白质病的扩展表型

GENETICS IN MEDICINE
IF6.2
2021-12-0110
OAAI
Heiman, Guy; Mendes, Marisa, I; Nicita, Francesco; Darbelli, Lama; Sherbini, Omar; Moore, Travis; Derksen, Alexa; Pizzino, Amy; Carrozzo, Rosalba; Torraco, Alessandra; Catteruccia, Michela; Aiello, Chiara; Goffrini, Paola; Figuccia, Sonia; Smith, Desiree E. C.; Hadzsiev, Kinga; Hahn, Andreas; Biskup, Saskia; Broesse, Ines; Kotzaeridou, Urania; Gauck, Darja; Grebe, Theresa A.; Elmslie, Frances; Stals, Karen; Gupta, Rajat; Bertini, Enrico; Thiffault, Isabelle; Taft, Ryan J.; Schiffmann, Raphael; Brandl, Ulrich; Haack, Tobias B.; Salomons, Gajja S.; Simons, Cas; Bernard, Genevieve; van der Knaap, Marjo S.; Vanderver, Adeline; Husain, Ralf A.
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus
MOLECULAR GENETICS AND METABOLISM
IF3.5
2021-04-019
OAAI
Moreno-Martinez, D.; Aguiar, P.; Auray-Blais, C.; Beck, M.; Bichet, D. G.; Burlina, A.; Cole, D.; Elliott, P.; Feldt-Rasmussen, U.; Feriozzi, S.; Fletcher, J.; Giugliani, R.; Jovanovic, A.; Kampmann, C.; Langeveld, M.; Lidove, O.; Linhart, A.; Mauer, M.; Moon, J. C.; Muir, A.; Nowak, A.; Oliveira, J. P.; Ortiz, A.; Pintos-Morell, G.; Politei, J.; Rozenfeld, P.; Schiffmann, R.; Svarstad, E.; Talbot, A. S.; Thomas, M.; Tondel, C.; Warnock, D.; West, M. L.; Hughes, D. A.
COVID-19 patient impact: A survey of the Gaucher community involving patients, caregivers and family members based in the US to determine impact of the pandemic
MOLECULAR GENETICS AND METABOLISM
IF3.5
2021-02-011
OAAI
Ryan, Emory; Lopez, Grisel; Balwani, Manisha; Barbouth, Deborah; Burrow, T. Andrew; Ginns, Edward; Goker-Alpan, Ozlem; Grabowski, Gregory; Kartha, Reena; Kishnani, Priya; Lau, Heather; Lee, Chung; Mistry, Pramod; Maegawa, Gustavo; Packman, Seymour; Prada, Carlos; Rosenbloom, Barry; Lal, Tamanna Roshan; Schiffmann, Raphael; Weinreb, Neal; Sidransky, Ellen
Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease
PROGRESS IN NEUROBIOLOGY
IF6.1
2021-02-019
PREAI
Pewzner-Jung, Yael; Joseph, Tammar; Blumenreich, Shani; Vardi, Ayelet; Ferreira, Natalia Santos; Cho, Soo Min; Eilam, Raya; Tsoory, Michael; Biton, Inbal E.; Brumfeld, Vlad; Haffner-Krausz, Rebecca; Brenner, Ori; Sharabi, Nir; Addadi, Yoseph; Salame, Tomer-Meir; Rotkopf, Ron; Wigoda, Noa; Yayon, Nadav; Merrill, Alfred H., Jr.; Schiffmann, Raphael; Futerman, Anthony H.

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
D
Derralynn Hughes
H 指数:74论文数:665被引数:1.8万
M
Marjo S. van der Knaap
H 指数:98论文数:807被引数:3.3万
C
Christine R. Kaneski
H 指数:28论文数:81被引数:4,577
Ö
Özlem Göker-Alpan
H 指数:41论文数:262被引数:6,209
D
David F. Moore
H 指数:44论文数:238被引数:7,867
D
Daniel G. Bichet
H 指数:73论文数:393被引数:2.0万
J
Jin‐Song Shen
H 指数:16论文数:46被引数:761
W
William R. Wilcox
H 指数:70论文数:561被引数:2.2万
R
Roscoe O. Brady
H 指数:86论文数:369被引数:2.3万