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S

Sabine Grønborg

Copenhagen University Hospital Rigshospitalet
H指数:21
被引数:1,556

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Allogeneic haematopoietic stem cell transplantation in late-onset metachromatic leukodystrophy

异基因造血干细胞移植在迟发性异染性脑白质营养不良中的应用

Brain
IF11.7
2026-09-210
PRE
Daphne H Schoenmakers; Mareen R Datema; Shanice Beerepoot; Marije A B C Asbreuk; Caroline G Bergner; Carolin Awißus; Annette Bley; Helen Sigel; Janna Bredow; Valeria Calbi; Francesca Fumagalli; Emilia Inverso; Erik A Eklund; Sabine W Grønborg; Wietske H M Grol; Cecilie Videbæk; Christiane Kehrer; Marjo S van der Knaap; Nick Schnermann; Hendrik Rosewich; Peter Lang; Peter M van Hasselt; Caroline A Lindemans; Moniek de Witte; Mirjam Langeveld; Ludger Schöls; Jaap Jan Boelens; Päivi Vieira; Johanna Uusimaa; Fanny Mochel; Caroline Sevin; Carla E M Hollak; Samuel Groeschel; Nicole I Wolf
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial

Arimoclomol在尼曼-皮克病C型中的长期疗效与安全性：NPC-002 48个月开放标签扩展试验2/3期的最终结果

Molecular Genetics and Metabolism
IF3.5
2025-07-070
PRE
Eugen Mengel; Rosalia M. Da Riol; Mireia Del Toro; Federica Deodato; Matthias Gautschi; Stephanie Grunewald; Sabine Weller Grønborg; Paul Harmatz; Julia B. Hennermann; Bénédicte Héron; Esther M. Maier; Saikat Santra; Reena Sharma; Anna Tylki-Szymanska; Malene Cording; Louise Himmelstrup; Sven Guenther; Christine í Dali
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
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
JOURNAL OF MEDICAL GENETICS
IF3.7
2023-08-167
OAAI
Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A.; Farholt, Stense; Ferreira, Carlos R.; Wolfe, Lynne A.; Gahl, William A.; Gnazzo, Maria; Goel, Himanshu; Gronborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A.; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F.; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W.; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P.; Sawyer, Sarah; Smeland, Marie Falkenberg; Stegmann, Sander; Stumpel, Constanze T.; Goel, Amy; Taylor, Juliet M.; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
HUMAN MOLECULAR GENETICS
IF3.2
2023-05-0317
OA
Amarasekera, Sumudu S. C.; Hock, Daniella H.; Lake, Nicole J.; Calvo, Sarah E.; Gronborg, Sabine W.; Krzesinski, Emma, I; Amor, David J.; Fahey, Michael C.; Simons, Cas; Wibrand, Flemming; Mootha, Vamsi K.; Lek, Monkol; Lunke, Sebastian; Stark, Zornitza; ostergaard, Elsebet; Christodoulou, John; Thorburn, David R.; Stroud, David A.; Compton, Alison G.
Developmental delay can precede neurologic regression in metachromatic leukodystrophy
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-02-010
PRE
Adang, Laura A.; Groeschel, Samuel; Grzyb, Chloe; Eichler, Florian S.; Fraser, Jamie L.; Emrick, Lisa; Van Haren, Keith; Keller, Stephanie; Poe, Michele; Bernat, John; Bonkowsky, Joshua L.; Bernard, Genevieve; Stutterd, Chloe; Orchard, Paul J.; Gupta, Ashish; Ljungberg, Merete; Gronborg, Sabine; Fumagalli, Francesca; Elgun, Saskia; Kehrer, Christiane; Shults, Justine; Vanderver, Adeline; Escolar, Maria L.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-09-016
OAAI
Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; Bibi, Farah; Horga, Alejandro; Martinez-Agosto, Julian A.; Lam, Amanda; Manole, Andreea; Rodriguez, Diego-Perez; Durigon, Romina; Pyle, Angela; Albash, Buthaina; Dionisi-Vici, Carlo; Murphy, David; Martinelli, Diego; Bugiardini, Enrico; Allis, Katrina; Lamperti, Costanza; Reipert, Siegfried; Risom, Lotte; Laugwitz, Lucia; Di Nottia, Michela; McFarland, Robert; Vilarinho, Laura; Hanna, Michael; Prokisch, Holger; Mayr, Johannes A.; Bertini, Enrico Silvio; Ghezzi, Daniele; Ostergaard, Elsebet; Wortmann, Saskia B.; Carrozzo, Rosalba; Haack, Tobias B.; Taylor, Robert W.; Spinazzola, Antonella; Nowikovsky, Karin; Houlden, Henry
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
MOLECULAR GENETICS AND METABOLISM
IF3.5
2022-04-0114
OAAI
Tseng, Laura A.; Abdenur, Jose E.; Andrews, Ashley; Aziz, Verena G.; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Hartmann, Hans; Footitt, Emma J.; Gronborg, Sabine; Janssen, Mirian C. H.; Longo, Nicola; Lunsing, Roelineke J.; MacKenzie, Alex E.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; Coughlin, Curtis R., II; van Karnebeek, Clara D. M.
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
Persistent effect of arimoclomol in patients with Niemann-Pick disease type C: 24-month results from an open-label extension of a pivotal phase 2/3 study

arimoclomol对C型niemann-pick病患者的持续作用: 关键2/3期研究的开放标签扩展的24个月结果

MOLECULAR GENETICS AND METABOLISM
IF3.5
2022-02-010
PRE
Patterson, Marc; Mengel, Eugen; Da Rio, Rosalia M.; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Harmatz, Paul; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Andreasen, Anne Katrine; Geist, Marie Aavang; Petersen, Nikolaj Havnsoe Torp; Ingemann, Linda; Hansen, Thomas; Blaettler, Thomas; Kirkegaard, Thomas; Dali, Christine I.
PURA-Related Developmental and Epileptic Encephalopathy

紫癜相关性发育性和癫痫性脑病

NEUROLOGY-GENETICS
IF3.7
2021-12-0126
OAAI
Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P. W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amelie; Faivre, Laurence; Garde, Aurore; Moutton, Sebastien; Tran-Mau-Them, Frederic; Denomme-Pichon, Anne-Sophie; Coubes, Christine; Larson, Austin; Esser, Michael J.; Appendino, Juan Pablo; Al-Hertani, Walla; Gamboni, Beatriz; Mampel, Alejandra; Mayorga, Lia; Orsini, Alessandro; Bonuccelli, Alice; Suppiej, Agnese; Van-Gils, Julien; Vogt, Julie; Damioli, Simona; Giordano, Lucio; Moortgat, Stephanie; Wirrell, Elaine; Hicks, Sarah; Kini, Usha; Noble, Nathan; Stewart, Helen; Asakar, Shailesh; Cohen, Julie S.; Naidu, SakkuBai R.; Collier, Ashley; Brilstra, Eva H.; Li, Mindy H.; Brew, Casey; Bigoni, Stefania; Ognibene, Davide; Ballardini, Elisa; Ruivenkamp, Claudia; Faggioli, Raffaella; Afenjar, Alexandra; Rodriguez, Diana; Bick, David; Segal, Devorah; Coman, David; Gunning, Boudewijn; Devinsky, Orrin; Demmer, Laurie A.; Grebe, Theresa; Pruna, Dario; Cursio, Ida; Greenhalgh, Lynn; Graziano, Claudio; Singh, Rahul Raman; Cantalupo, Gaetano; Willems, Marjolaine; Yoganathan, Sangeetha; Goes, Fernanda; Leventer, Richard J.; Colavito, Davide; Olivotto, Sara; Scelsa, Barbara; Andrade, Andrea V.; Ratke, Kelly; Tokarz, Farha; Khan, Atiya S.; Ormieres, Clothilde; Benko, William; Keough, Karen; Keros, Sotirios; Hussain, Shanawaz; Franques, Ashlea; Varsalone, Felicia; Gronborg, Sabine; Mignot, Cyril; Heron, Delphine; Nava, Caroline; Isapof, Arnaud; Borlot, Felippe; Whitney, Robyn; Ronan, Anne; Foulds, Nicola; Somorai, Marta; Brandsema, John; Helbig, Katherine L.; Helbig, Ingo; Ortiz-Gonzalez, Xilma R.; Dubbs, Holly; Vitobello, Antonio; Anderson, Mel; Spadafore, Dominic; Hunt, David; Moller, Rikke S.; Rubboli, Guido

研究方向

暂未获取到该数据
S
Stephanie Grünewald
H 指数:46论文数:195被引数:7,086
M
Matthias Gautschi
H 指数:28论文数:99被引数:4,166
F
Federica Deodato
H 指数:31论文数:103被引数:3,260
M
Mireia del Toro
H 指数:25论文数:99被引数:3,134
S
Saikat Santra
H 指数:37论文数:142被引数:4,832
E
Esther M. Maier
H 指数:37论文数:146被引数:4,262
A
Anna Tylki‐Szymańska
H 指数:49论文数:388被引数:9,351
A
Agathe Roubertie
H 指数:49论文数:274被引数:8,175
C
Christine í Dali
H 指数:20论文数:104被引数:1,091
A
Allan M. Lund
H 指数:46论文数:290被引数:7,578