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A

Angela Messina

cnr institute for polymers composites and biomaterials
H指数:11
被引数:385

个人简介

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Mice with the mono-allelic p.R37H Dhdds variant show aberrant glycosylation and interneuron deficits

携带单等位基因p.R37H Dhdds变异的小鼠表现出异常糖基化和中间神经元缺陷

Brain
IF11.7
2026-09-110
OAAI
Afitz Da Silva; Merrick S Fallah; Samuel Boris Tene Tadoum; Mehrnaz Fazeli; Irena J J Muffels; Siyan Wang; Francois Grenier; Rohit Budhraja; Luisa Sturiale; Angela Messina; Moshe Giladi; Mahsa Taherzadeh; Éric Bonneil; Shaukat Khan; Danielle te Vruchte; Yojiro Yamanaka; Graziella Di Cristo; Fadi F Hamdan; Frances M Platt; Shunji Tomatsu; Yoni Haitin; Tamas Kozicz; Pierre Thibault; Domenico Garozzo; Akilesh Pandey; Eva Morava; Elsa Rossignol; Alexey V Pshezhetsky; null
A splice-altering intronic variant in two multiplex families refines COG4-related congenital disorder of glycosylation

在两个多基因家族中发现的一个可改变剪接的内含子变异，可明确COG4相关的先天性糖基化障碍

Molecular Genetics and Metabolism
IF3.5
2026-05-220
PRE
Lucia Micale; Luisa Sturiale; Federica Russo; Ester Di Muro; Grazia Nardella; Riccardo Pracella; Sonia Lomuscio; Silvia Morlino; Mario Benvenuto; Angela Messina; Angelo Palmigiano; Massimo Carella; Giuseppe d'Orsi; Pietro Palumbo; Orazio Palumbo; Rita Barone; Marco Castori
N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function
SCIENCE ADVANCES
IF12.5
2023-06-305
OAAI
Da Silva, Afitz; Dort, Junio; Orfi, Zakaria; Pan, Xuefang; Huang, Sjanie; Kho, Ikhui; Heckel, Emilie; Muscarnera, Giacomo; van Vliet, Patrick Piet; Sturiale, Luisa; Messina, Angela; Romeo, Donata Agata; van Karnebeek, Clara D. M.; Wen, Xiao-Yan; Hinek, Aleksander; Molina, Thomas; Andelfinger, Gregor; Ellezam, Benjamin; Yamanaka, Yojiro; Olivos, Hernando J.; Morales, Carlos R.; Joyal, Jean-Sebastien; Lefeber, Dirk J.; Garozzo, Domenico; Dumont, Nicolas A.; Pshezhetsky, Alexey V.

研究方向

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D
Domenico Garozzo
H 指数:43论文数:212被引数:5,892
L
Luisa Sturiale
H 指数:35论文数:133被引数:3,689
A
Angelo Palmigiano
H 指数:22论文数:61被引数:1,622
D
Donata Agata Romeo
H 指数:5论文数:10被引数:252
A
Andrea Leonardi
H 指数:56论文数:317被引数:8,492
R
Rita Barone
H 指数:47论文数:326被引数:8,510
É
Éric Bonneil
H 指数:45论文数:212被引数:7,045
Y
Yojiro Yamanaka
H 指数:39论文数:127被引数:9,662
A
Afitz Da Silva
H 指数:9论文数:17被引数:278
C
Carlos R. Morales
H 指数:54论文数:246被引数:9,562