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Annette Bley

qatar biomedical research institute (qbri)
H指数:22
被引数:1,895

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Beyond the interferon score: neurofilament light chain and glial fibrillary acidic protein capture immune-mediated neuroinjury and response to JAK inhibition in Aicardi–Goutières syndrome

超越干扰素评分：神经丝轻链和胶质纤维酸性蛋白捕捉Aicardi–Goutières综合征中免疫介导的神经损伤及对JAK抑制的应答

Frontiers in Immunology
IF5.9
2026-04-150
OAAI
LW Lisa Wege; CK Christian Klemann; SS Sandy Siegert; AB Annette Bley; SK Sarah Koss; AK Anne Koy; TL Thorsten Langer; FD Franziska Dunst; BP Barbara Plecko; MF Martin Fleger; FS Fabian Speth; TN Tim Niehues; PK Peter Kaufmann; JS Jurek Schultz; MA Mohammed Attia; JS Johannes Stoffels; BW Beata Wolska-Kuśnierz; RR Roman Rolke; GR Gabriele Reichelt; FB Friederike Blankenburg; JB Jürgen Brunner; KA Katja Akgün; CW Christine Wolf; MA Min Ae Lee-Kirsch
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

KDM2A基因中的全新变异导致一种综合征性神经发育障碍

American Journal of Human Genetics
IF8.1
2026-01-011
OA
Anderson, Eric N.; Drukewitz, Stephan; Kour, Sukhleen; Chimata, Anuradha, V; Rajan, Deepa S.; Schonnagel, Senta; Stals, Karen L.; Donnelly, Deirdre; O'sullivan, Siobhan; Mantovani, John F.; Tan, Tiong Y.; Stark, Zornitza; Zacher, Pia; Chatron, Nicolas; Monin, Pauline; Drunat, Severine; Vial, Yoann; Latypova, Xenia; Levy, Jonathan; Verloes, Alain; Carter, Jennefer N.; Bonner, Devon E.; Shankar, Suma P.; Bernstein, Jonathan A.; Cohen, Julie S.; Comi, Anne; Carere, Deanna Alexis; Dyer, Lisa M.; Mullegama, Sureni, V; Sanchez-Lara, Pedro A.; Grand, Katheryn; Kim, Hyung-Goo; Ben-Mahmoud, Afif; Gospe Jr, Sidney M.; Belles, Rebecca S.; Bellus, Gary; Lichtenbelt, Klaske D.; Oegema, Renske; Rauch, Anita; Ivanovski, Ivan; Mau-Them, Frederic Tran; Garde, Aurore; Rabin, Rachel; Pappas, John; Bley, Annette E.; Bredow, Janna; Wagner, Timo; Decker, Eva; Bergmann, Carsten; Domenach, Louis; Margot, Henri; Lemke, Johannes R.; Abou Jamra, Rami; Hentschel, Julia; Mefford, Heather; Singh, Amit; Pandey, Udai Bhan; Platzer, Konrad
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
Gene therapy in advanced metachromatic leukodystrophy: tempering expectations
PROTEIN & CELL
IF12.8
2024-11-280
OAAI
Schoenmakers, Daphne H.; Beerepoot, Shanice; Adang, Laura A.; Asbreuk, Marije A. B. C.; Bergner, Caroline G.; Bley, Annette E.; Boelens, Jaap-Jan; Calbi, Valeria; Darling, Alejandra; Eklund, Erik; Garcia Cazorla, Angeles; Gronborg, Sabine W.; Groeschel, Samuel; van Hasselt, Peter M.; Hollak, Carla E. M.; Horgan, Claire; Jones, Simon; de Koning, Tom; Laugwitz, Lucia; Lindemans, Caroline; Martin, Pascal; Mochel, Fanny; Oberg, Andreas; Ram, Dipak; Sevin, Caroline; Schoels, Ludger; Zerem, Ayelet; Wolf, Nicole, I; Fumagalli, Francesca
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
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy
EBIOMEDICINE
IF10.8
2023-10-0110
OAAI
Weinhofer, Isabelle; Rommer, Paulus; Gleiss, Andreas; Ponleitner, Markus; Zierfuss, Bettina; Waidhofer-Soellner, Petra; Fourcade, Stephane; Grabmeier-Pfisterhammer, Katharina; Reinert, Marie-Christine; Goepfert, Jens; Heine, Anne; Yska, Hemmo A. F.; Casasnovas, Carlos; Cantarin, Veronica; Bergner, Caroline G.; Mallack, Eric; Forss-Petter, Sonja; Aubourg, Patrick; Bley, Annette; Engelen, Marc; Eichler, Florian; Lund, Troy C.; Pujol, Aurora; Koehler, Wolfgang; Kuehl, Joern-Sven; Berger, Johannes
PIGN encephalopathy: Characterizing the epileptology
EPILEPSIA
IF6.6
2022-02-189
OA
Bayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G.
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2022-02-1416
OAAI
Schoenmakers, Daphne H.; Beerepoot, Shanice; van den Berg, Sibren; Adang, Laura; Bley, Annette; Boelens, Jaap-Jan; Fumagalli, Francesca; Goettsch, Wim G.; Gronborg, Sabine; Groeschel, Samuel; van Hasselt, Peter M.; Hollak, Carla E. M.; Lindemans, Caroline; Mochel, Fanny; Mol, Peter G. M.; Sevin, Caroline; Zerem, Ayelet; Schols, Ludger; Wolf, Nicole, I
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
2020-10-0132
OAAI
Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M. L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando, I; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P.; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard, I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S.; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole, I; Bernard, Genevieve
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
HUMAN MUTATION
IF3.7
2020-01-1479
OAAI
Rice, Gillian, I; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A.; Ayuk, Loveline A.; Van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; de Villemeur, Thierry Billette; Bley, Annette E.; Blumkin, Lubov; Boespflug-Tanguy, Odile; Briggs, Tracy A.; Brimble, Elise; Dale, Russell C.; Darin, Niklas; Debray, Francois-Guillaume; De Giorgis, Valentina; Denecke, Jonas; Doummar, Diane; af Hagelsrum, Gunilla Drake; Eleftheriou, Despina; Estienne, Margherita; Fazzi, Elisa; Feillet, Francois; Galli, Jessica; Hartog, Nicholas; Harvengt, Julie; Heron, Benedicte; Heron, Delphine; Kelly, Diedre A.; Lev, Dorit; Levrat, Virginie; Livingston, John H.; Marti, Itxaso; Mignot, Cyril; Mochel, Fanny; Nougues, Marie-Christine; Oppermann, Ilena; Perez-Duenas, Belen; Popp, Bernt; Rodero, Mathieu P.; Rodriguez, Diana; Saletti, Veronica; Sharpe, Cia; Tonduti, Davide; Vadlamani, Gayatri; Van Haren, Keith; Vila, Miguel Tomas; Vogt, Julie; Wassmer, Evangeline; Wiedemann, Arnaud; Wilson, Callum J.; Zerem, Ayelet; Zweier, Christiane; Zuberi, Sameer M.; Orcesi, Simona; Vanderver, Adeline L.; Hur, Sun; Crow, Yanick J.
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease (vol 138, pg 147, 2019)
ACTA NEUROPATHOLOGICA
IF9.3
2019-09-034
OAAI
Stumpf, Sina K.; Berghoff, Stefan A.; Trevisiol, Andrea; Spieth, Lena; Dueking, Tim; Schneider, Lennart V.; Schlaphoff, Lennart; Dreha-Kulaczewski, Steffi; Bley, Annette; Burfeind, Dinah; Kusch, Kathrin; Mitkovski, Miso; Ruhwedel, Torben; Guder, Philipp; Roehse, Heiko; Denecke, Jonas; Gaertner, Jutta; Moebius, Wiebke; Nave, Klaus-Armin; Saher, Gesine
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease

生酮饮食可改善轴突缺陷并促进pelizaeus-merzbacher病的髓鞘形成

ACTA NEUROPATHOLOGICA
IF9.3
2019-03-2749
OAAI
Stumpf, Sina K.; Berghoff, Stefan A.; Trevisiol, Andrea; Spieth, Lena; Dueking, Tim; Schneider, Lennart V.; Schlaphoff, Lennart; Dreha-Kulaczewski, Steffi; Bley, Annette; Burfeind, Dinah; Kusch, Kathrin; Mitkovski, Miso; Ruhwedel, Torben; Guder, Philipp; Roehse, Heiko; Denecke, Jonas; Gaertner, Jutta; Moebius, Wiebke; Nave, Klaus-Armin; Saher, Gesine

研究方向

暂未获取到该数据
F
Florian Eichler
H 指数:50论文数:258被引数:7,920
J
Jonas Denecke
H 指数:43论文数:1,137被引数:5,956
L
Lüdger Schöls
H 指数:98论文数:1,028被引数:3.7万
F
Fanny Mochel
H 指数:58论文数:279被引数:9,846
F
Francesca Fumagalli
H 指数:17论文数:70被引数:2,839
N
Nicole I. Wolf
H 指数:60论文数:714被引数:1.1万
S
Samuel Groeschel
H 指数:27论文数:138被引数:2,458
C
Caroline Sevin
H 指数:26论文数:105被引数:2,917
P
Philipp Guder
H 指数:8论文数:18被引数:268
L
Laura Adang
H 指数:26论文数:126被引数:2,086