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F

Florian Eichler

department of neurology
H指数:50
被引数:7,920

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Risk of Seizures and Epilepsy in the Leukodystrophies

少白质营养不良症中癫痫痉挛的风险

Pediatric Neurology
IF2.1
2025-10-070
PRE
Ashley N. Hackett; Helena Yan; Katie Liu; Camille Corre; Kerry Gao; Chloe Grzyb; Jordan Goodman; Daniel Kelly; Cassandra R. Ingemansson; Gabrielle Ghabash; Kerry DiBenardo; Gerald V. Raymond; William Benko; Robert Thompson-Stone; Ali Fatemi; Florian S. Eichler; Stephanie Keller; Joshua L. Bonkowsky; Maria Escolar; Eric J. Mallack
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing

将ABCD1基因变异作为可操作的次级发现报告在全外显子组和全基因组测序中

GENETICS IN MEDICINE
IF6.2
2025-07-010
PRE
Gonzalez, Carlos A. Dominguez; Spinner, Nancy B.; Ahrens-Nicklas, Rebecca C.; Young, Lisa R.; Voss, Laura A.; Reichert, Sara L.; Gallo, Daniel J.; Cohen, Julie S.; Bonkowsky, Joshua L.; Keller, Stephanie R.; Bennett, Mariko L.; Pizzino, Amy M.; Swantkowski, Meghan; Arnold, Kaley; Fraser, Jamie L.; Emerson, Felicity J.; Miettunen, Kelly; Fatemi, Ali; Haren, Keith P. Van; Adang, Laura; Waldman, Amy; Emrick, Lisa; Eichler, Florian; Vanderver, Adeline
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2024-10-107
PRE
Duncan, Christine N.; Bledsoe, Jacob R.; Grzywacz, Bartosz; Beckman, Amy; Bonner, Melissa; Eichler, Florian S.; Kuhl, Joern-Sven; Harris, Marian H.; Slauson, Sarah; Colvin, Richard A.; Prasad, Vinod K.; Downey, Gerald F.; Pierciey, Francis J.; Kinney, Melissa A.; Foos, Marianna; Lodaya, Ankit; Floro, Nicole; Parsons, Geoffrey; Dietz, Andrew C.; Gupta, Ashish O.; Orchard, Paul J.; Thakar, Himal L.; Williams, David A.
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy

慢病毒基因治疗脑型肾上腺脑白质营养不良

NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2024-10-104
PRE
Eichler, Florian; Duncan, Christine N.; Musolino, Patricia L.; Lund, Troy C.; Gupta, Ashish O.; De Oliveira, Satiro; Thrasher, Adrian J.; Aubourg, Patrick; Kuehl, Joern-Sven; Loes, Daniel J.; Amartino, Hernan; Smith, Nicholas; Fernandes, Juliana Folloni; Sevin, Caroline; Sankar, Raman; Hussain, Shaun A.; Gissen, Paul; Dalle, Jean-Hugues; Platzbecker, Uwe; Downey, Gerald F.; McNeil, Elizabeth; Demopoulos, Laura; Dietz, Andrew C.; Thakar, Himal L.; Orchard, Paul J.; Williams, David A.
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.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
CYTOTHERAPY
IF3.2
2024-07-017
PRE
Adang, Laura A.; Bonkowsky, Joshua L.; Boelens, Jaap Jan; Mallack, Eric; Ahrens-Nicklas, Rebecca; Bernat, John A.; Bley, Annette; Burton, Barbara; Darling, Alejandra; Eichler, Florian; Eklund, Erik; Emrick, Lisa; Escolar, Maria; Fatemi, Ali; Fraser, Jamie L.; Gaviglio, Amy; Keller, Stephanie; Patterson, Marc C.; Orchard, Paul; Orthmann-Murphy, Jennifer; Santoro, Jonathan D.; Schoels, Ludger; Sevin, Caroline; Srivastava, Isha N.; Rajan, Deepa; Rubin, Jennifer P.; Van Haren, Keith; Wasserstein, Melissa; Zerem, Ayelet; Fumagalli, Francesca; Laugwitz, Lucia; Vanderver, Adeline

研究方向

暂未获取到该数据
P
Patricia L. Musolino
H 指数:26论文数:97被引数:2,174
K
Keith Van Haren
H 指数:28论文数:92被引数:3,710
A
Adeline Vanderver
H 指数:59论文数:390被引数:1.4万
C
Christopher D. Stephen
H 指数:24论文数:133被引数:4,979
M
Marc Engelen
H 指数:38论文数:164被引数:4,937
A
Annette Bley
H 指数:22论文数:66被引数:1,895
P
Paul A. Caruso
H 指数:28论文数:125被引数:2,582
Y
Yi Gong
H 指数:29论文数:78被引数:2,881
P
Paul J. Orchard
H 指数:61论文数:423被引数:1.7万
A
Ann B. Moser
H 指数:71论文数:291被引数:1.7万