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J

Jocelyn Laporte

Université de Strasbourg
H指数:70
被引数:2.7万

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Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy

49例与肌联蛋白相关先天性肌病患者群体的临床、组织学和遗传学特征

Human Mutation
IF3.7
2026-09-060
OAAI
Yvan de Feraudy; Anthony Maino; Morgane Boedec; Xavière Lornage; Norma B. Romero; Soledad Monges; Fabiana Lubieniecki; Marίa Eugenia Foncuberta; Celine Tard; Claude-Alain Maurage; Marie Csanyi; Pascale Marcorelles; Tanya Stojkovic; Leonard Feasson; Mélanie Fradin; Gaelle Gousse; Vincent Laugel; Marion Masingue; Aleksandra Nadaj-Pakleza; Jorge Alfredo Bevilacqua; NEB study group; John Rendu; Johann Bohm; Valérie Biancalana; Jocelyn Laporte
Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy

肌球蛋白抑制部分恢复了X连锁肌管性肌病的肌原纤维蛋白质组

JCI Insight
IF6.1
2025-12-221
OA
Melhedegaard, Elise Gerlach; Rostedt, Fanny; Gineste, Charlotte; Seaborne, Robert A. E.; Dugdale, Hannah F.; Belhac, Vladimir; Zanoteli, Edmar; Lawlor, Michael W.; Mack, David L.; Wallgren-Pettersson, Carina; Hessel, Anthony L.; Jungbluth, Heinz; Laporte, Jocelyn; Saito, Yoshihiko; Nishino, Ichizo; Ochala, Julien; Laitila, Jenni
Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era
ACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
2024-12-200
OAAI
Bui, Mai Thao; Fernandez-Eulate, Gorka; Evangelista, Teresinha; Lacene, Emmanuelle; Brochier, Guy; Labasse, Clemence; Madelaine, Angeline; Chanut, Anais; Beuvin, Maud; Borsato-Levy, Favienne; Biancalana, Valerie; Barcia, Giulia; De Lonlay, Pascale; Laporte, Jocelyn; Boehm, Johann; Romero, Norma Beatriz

研究方向

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N
Norma B. Romero
H 指数:64论文数:364被引数:1.4万
C
Christine Kretz
H 指数:31论文数:63被引数:6,398
J
Johann Böhm
H 指数:34论文数:191被引数:3,236
J
Jean‐Louis Mandel
H 指数:105论文数:527被引数:4.5万
B
Belinda S. Cowling
H 指数:30论文数:75被引数:2,803
J
Johann Böhm
H 指数:0论文数:3被引数:6
X
Xavière Lornage
H 指数:18论文数:53被引数:899
N
Norma B. Romero
H 指数:34论文数:117被引数:3,668
N
Nadia Messaddeq
H 指数:57论文数:185被引数:1.2万
K
Karim Hnia
H 指数:22论文数:45被引数:1,786