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J

Jordi Díaz-Manera

john walton muscular dystrophy research centre
H指数:0
被引数:8

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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Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies

揭开肌营养不良症的时空景观：一种针对贝克和杜氏肌营养不良症的转录组学方法

The Journal of Pathology
IF0
2026-05-010
OAAI
Laura GM Heezen; Qirong Mao; Stefan Nicolau; Claudio Novella Rausell; Julia van der Weerd; Jan Kueckelhaus; Rasya Gokul Nath; Jordi Diaz- Manera; Hermien E Kan; Erik H Niks; Maaike van Putten; Annemieke Aartsma-Rus; Kevin M Flanigan; Ahmed Mahfouz; Pietro Spitali
Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial

avalglucosidase alfa在COMET试验中治疗晚期发作型庞贝病145周后的疗效与安全性

Journal of Neurology
IF4.6
2025-08-160
OA
Priya S. Kishnani; Jordi Díaz-Manera; Sergey Illarioshkin; Ans T. van der Ploeg; Paula R. Clemens; John W. Day; Antonio Toscano; Hani Kushlaf; Shafeeq Ladha; Shahram Attarian; Gerson Carvalho; Anna Kostera-Pruszczyk; Sevim Erdem-Özdamar; Ozlem Goker-Alpan; Tahseen Mozaffar; Volker Straub; Mark Roberts; Kristina An Haack; Olivier Huynh-Ba; Swathi Tammireddy; Magali Periquet; Nathan Thibault; Tianyue Zhou; Mazen M. Dimachkie; Benedikt Schoser
Strategy for drug repurposing in fibroadipogenic replacement during muscle wasting: application to duchenne muscular dystrophy

在肌肉萎缩过程中纤维脂肪性替代的药物重定位策略：在杜氏肌营养不良症中的应用

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
IF4.3
2025-03-260
OA
Matthews, Izzy; Mehra, Priyanka; Suarez-Calvet, Xavier; Pinol-Jurado, Patricia; Cox, Dan; Justian, Vellia; Carrasco-Rozas, Ana; Laidler, Zoe; Bowey, Andrew; Rushton, Paul; Lopez-Fernandez, Susana; Diaz-Manera, Jordi; Fernandez-Simon, Esther
2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA plus ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy
NEUROBIOLOGY OF DISEASE
IF5.6
2025-03-010
OA
Peck, A.; Dadi, A.; Yavarow, Z.; Alfano, L. N.; Anderson, D.; Arkin, M. R.; Chou, T. F.; D'Ambrosio, E. S.; Diaz-Manera, J.; Dudley, J. P.; Elder, A. G.; Ghoshal, N.; Hart, C. E.; Hart, M. M.; Huryn, D. M.; Johnson, A. E.; Jones, K. B.; Kimonis, V.; Kiskinis, E.; Lee, E. B.; Lloyd, T. E.; Mapstone, M.; Martin, A.; Meyer, H.; Mozaffar, T.; Onyike, C. U.; Pfeffer, G.; Pindon, A.; Raman, M.; Richard, I.; Rubinsztein, D. C.; Schiava, M.; Schuetz, A. K.; Shen, P. S.; Southworth, D. R.; Staffaroni, A. M.; Taralio-Gravovac, M.; Weihl, C. C.; Yao, Q.; Ye, Y.; Peck, N.
Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration
SCIENTIFIC REPORTS
IF3.9
2024-02-092
OAAI
Pinol-Jurado, Patricia; Verdu-Diaz, Jose; Fernandez-Simon, Esther; Dominguez-Gonzalez, Cristina; Hernandez-Lain, Aurelio; Lawless, Conor; Vincent, Amy; Gonzalez-Chamorro, Alejandro; Villalobos, Elisa; Monceau, Alexandra; Laidler, Zoe; Mehra, Priyanka; Clark, James; Filby, Andrew; Mcdonald, David; Rushton, Paul; Bowey, Andrew; Alonso Perez, Jorge; Tasca, Giorgio; Marini-Bettolo, Chiara; Guglieri, Michela; Straub, Volker; Suarez-Calvet, Xavier; Diaz-Manera, Jordi
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

对一组由VCP介导的疾病患者进行肌肉磁共振成像分析，揭示了有助于诊断的特征性表现。

Journal of Neurology
IF4.6
2023-08-210
OAAI
Diana Esteller; Marianela Schiava; José Verdú-Díaz; Rocío-Nur Villar-Quiles; Boris Dibowski; Nadia Venturelli; Pascal Laforet; Jorge Alonso-Pérez; Montse Olive; Cristina Domínguez-González; Carmen Paradas; Beatriz Vélez; Anna Kostera-Pruszczyk; Biruta Kierdaszuk; Carmelo Rodolico; Kristl Claeys; Endre Pál; Edoardo Malfatti; Sarah Souvannanorath; Alicia Alonso-Jiménez; Willem de Ridder; Eline De Smet; George Papadimas; Constantinos Papadopoulos; Sofia Xirou; Sushan Luo; Nuria Muelas; Juan J. Vilchez; Alba Ramos-Fransi; Mauro Monforte; Giorgio Tasca; Bjarne Udd; Johanna Palmio; Srtuhi Sri; Sabine Krause; Benedikt Schoser; Roberto Fernández-Torrón; Adolfo López de Munain; Elena Pegoraro; Maria Elena Farrugia; Mathias Vorgerd; Georgious Manousakis; Jean Baptiste Chanson; Aleksandra Nadaj-Pakleza; Hakan Cetin; Umesh Badrising; Jodi Warman-Chardon; Jorge Bevilacqua; Nicholas Earle; Mario Campero; Jorge Díaz; Chiseko Ikenaga; Thomas E. Lloyd; Ichizo Nishino; Yukako Nishimori; Yoshihiko Saito; Yasushi Oya; Yoshiaki Takahashi; Atsuko Nishikawa; Ryo Sasaki; Chiara Marini-Bettolo; Michela Guglieri; Volker Straub; Tanya Stojkovic; Robert Y. Carlier; Jordi Díaz-Manera
Efficacy and safety of avalglucosidase alfa in participants with late-onset Pompe disease after 145 weeks of treatment during the COMET trial
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-02-011
PRE
Kishnani, Priya S.; Diaz-Manera, Jordi; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; van der Ploeg, Ans T.; Clemens, Paula R.; Day, John W.; Illarioshkin, Sergey; Roberts, Mark E.; Attarian, Shahram; Carvalho, Gerson; Erdem-Ozdamar, Sevim; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; Haack, Kristina An; Huynh-Ba, Olivier; Tammireddy, Swathi; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M.; Schoser, Benedikt

研究方向

暂未获取到该数据
I
Isabel Illa
H 指数:75论文数:324被引数:2.2万
T
Tahseen Mozaffar
H 指数:58论文数:400被引数:1.3万
E
Eduard Gallardo
H 指数:49论文数:249被引数:8,597
B
Benedikt Schoser
H 指数:75论文数:858被引数:1.7万
V
Volker Straub
H 指数:101论文数:962被引数:3.4万
P
Priya S. Kishnani
H 指数:75论文数:762被引数:2.2万
L
Luís Querol
H 指数:50论文数:219被引数:9,435
X
Xavier Suárez‐Calvet
H 指数:19论文数:66被引数:1,927
M
Mazen M. Dimachkie
H 指数:60论文数:416被引数:1.3万
N
Nathan Thibault
H 指数:8论文数:55被引数:409