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Angel Ashikov

radboud university nijmegen
H指数:26
被引数:2,309

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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-11-017
OAAI
Wilson, Matthew P.; Garanto, Alejandro; Vairo, Filippo Pinto E.; Ng, Bobby G.; Ranatunga, Wasantha K.; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; Vuillaumier-Barrot, Sandrine; Dupre, Thierry; Michelakakis, Helen; Fiumara, Agata; Pitt, James; White, Susan M.; Lim, Sze Chern; Gallacher, Lyndon; Peters, Heidi; Rymen, Daisy; Witters, Peter; Ribes, Antonia; Morales-Romero, Blai; Rodriguez-Palmero, Agusti; Ballhausen, Diana; de Lonlay, Pascale; Barone, Rita; Janssen, Mirian C. H.; Jaeken, Jaak; Freeze, Hudson H.; Matthijs, Gert; Morava, Eva; Lefeber, Dirk J.
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease
HEPATOLOGY
IF15.8
2020-12-2329
OAAI
Cannata Serio, Magda; Graham, Laurie A.; Ashikov, Angel; Larsen, Lars Elmann; Raymond, Kimiyo; Timal, Sharita; Le Meur, Gwenn; Ryan, Margret; Czarnowska, Elzbieta; Jansen, Jos C.; He, Miao; Ficicioglu, Can; Pichurin, Pavel; Hasadsri, Linda; Minassian, Berge; Rugierri, Alessandra; Kalimo, Hannu; Rios-Ocampo, W. Alfredo; Gilissen, Christian; Rodenburg, Richard; Jonker, Johan W.; Holleboom, Adriaan G.; Morava, Eva; Veltman, Joris A.; Socha, Piotr; Stevens, Tom H.; Simons, Matias; Lefeber, Dirk J.
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy
CLINICAL CHEMISTRY
IF6.3
2019-10-0113
OAAI
van Tol, Walinka; van Scherpenzeel, Monique; Alsady, Mohammad; Riemersma, Moniek; Hermans, Esther; Kragt, Else; Tasca, Giorgio; Kamsteeg, Erik-Jan; Pennings, Maartje; van Beusekom, Ellen; Vermeulen, Jeroen R.; van Bokhoven, Hans; Voermans, Nicol C.; Willemsen, Michel A.; Ashikov, Angel; Lefeber, Dirk J.
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
HUMAN MOLECULAR GENETICS
IF3.2
2018-06-0533
OAAI
Ashikov, Angel; Abu Bakar, Nurulamin; Wen, Xiao-Yan; Niemeijer, Marco; Osorio, Glentino Rodrigues Pinto; Brand-Arzamendi, Koroboshka; Hasadsri, Linda; Hansikova, Hana; Raymond, Kimiyo; Vicogne, Dorothee; Ondruskova, Nina; Simon, Marleen E. H.; Pfundt, Rolph; Timal, Sharita; Beumers, Roel; Biot, Christophe; Smeets, Roel; Kersten, Marjan; Huijben, Karin; Linders, Peter T. A.; van den Bogaart, Geert; van Hijum, Sacha A. F. T.; Rodenburg, Richard; van den Heuvel, Lambertus P.; van Spronsen, Francjan; Honzik, Tomas; Foulquier, Francois; van Scherpenzeel, Monique; Lefeber, Dirk J.
NANS-mediated synthesis of sialic acid is required for brain and skeletal development (vol 48, pg 777, 2016)
NATURE GENETICS
IF31.8
2017-06-014
OAAI
van Karnebeek, Clara D. M.; Bonafe, Luisa; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Balzano, Sara; Royer-Bertrand, Beryl; Ashikov, Angel; Garavelli, Livia; Mammi, Isabella; Turolla, Licia; Breen, Catherine; Donnai, Dian; Cormier-Daire, Valerie; Heron, Delphine; Nishimura, Gen; Uchikawa, Shinichi; Campos-Xavier, Belinda; Rossi, Antonio; Hennet, Thierry; Brand-Arzamendi, Koroboshka; Rozmus, Jacob; Harshman, Keith; Stevenson, Brian J.; Girardi, Enrico; Superti-Furga, Giulio; Dewan, Tammie; Collingridge, Alissa; Halparin, Jessie; Ross, Colin J.; Van Allen, Margot I.; Rossi, Andrea; Engelke, Udo F.; Kluijtmans, Leo A. J.; van der Heeft, Ed; Renkema, Herma; de Brouwer, Arjan; Huijben, Karin; Zijlstra, Fokje; Heise, Torben; Boltje, Thomas; Wasserman, Wyeth W.; Rivolta, Carlo; Unger, Sheila; Lefeber, Dirk J.; Wevers, Ron A.; Superti-Furga, Andrea
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
NATURE COMMUNICATIONS
IF15.7
2016-05-27109
OAAI
Jansen, Eric J. R.; Timal, Sharita; Ryan, Margret; Ashikov, Angel; van Scherpenzeel, Monique; Graham, Laurie A.; Mandel, Hanna; Hoischen, Alexander; Iancu, Theodore C.; Raymond, Kimiyo; Steenbergen, Gerry; Gilissen, Christian; Huijben, Karin; van Bakel, Nick H. M.; Maeda, Yusuke; Rodenburg, Richard J.; Adamowicz, Maciej; Crushell, Ellen; Koenen, Hans; Adams, Darius; Vodopiutz, Julia; Greber-Platzer, Susanne; Mueller, Thomas; Dueckers, Gregor; Morava, Eva; Sykut-Cegielska, Jolanta; Martens, Gerard J. M.; Wevers, Ron A.; Niehues, Tim; Huynen, Martijn A.; Veltman, Joris A.; Stevens, Tom H.; Lefeber, Dirk J.
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
NATURE GENETICS
IF31.8
2016-05-23124
OAAI
van Karnebeek, Clara D. M.; Bonafe, Luisa; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Balzano, Sara; Royer-Bertrand, Beryl; Ashikov, Angel; Garavelli, Livia; Mammi, Isabella; Turolla, Licia; Breen, Catherine; Donnai, Dian; Cormier-Daire, Valerie; Heron, Delphine; Nishimura, Gen; Uchikawa, Shinichi; Campos-Xavier, Belinda; Rossi, Antonio; Hennet, Thierry; Brand-Arzamendi, Koroboshka; Rozmus, Jacob; Harshman, Keith; Stevenson, Brian J.; Girardi, Enrico; Superti-Furga, Giulio; Dewan, Tammie; Collingridge, Alissa; Halparin, Jessie; Ross, Colin J.; Van Allen, Margot I.; Rossi, Andrea; Engelke, Udo F.; Kluijtmans, Leo A. J.; van der Heeft, Ed; Renkema, Herma; de Brouwer, Arjan; Huijben, Karin; Zijlstra, Fokje; Heise, Torben; Boltje, Thomas; Wasserman, Wyeth W.; Rivolta, Carlo; Unger, Sheila; Lefeber, Dirk J.; Wevers, Ron A.; Superti-Furga, Andrea
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2016-02-0173
OAAI
Jansen, Jos C.; Timal, Sharita; van Scherpenzeel, Monique; Michelakakis, Helen; Vicogne, Dorothee; Ashikov, Angel; Moraitou, Marina; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; van den Boogert, Marjolein A. W.; Porta, Francesco; Calvo, Pier Luigi; Mavrikou, Mersyni; Cenacchi, Giovanna; van den Bogaart, Geert; Salomon, Jody; Holleboom, Adriaan G.; Rodenburg, Richard J.; Drenth, Joost P. H.; Huynen, Martijn A.; Wevers, Ron A.; Morava, Eva; Foulquier, Francois; Veltman, Joris A.; Lefeber, Dirk J.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2016-02-0183
OAAI
Jansen, Jos C.; Cirak, Sebahattin; van Scherpenzeel, Monique; Timal, Sharita; Reunert, Janine; Rust, Stephan; Perez, Belen; Vicogne, Dorothee; Krawitz, Peter; Wada, Yoshinao; Ashikov, Angel; Perez-Cerda, Celia; Medrano, Celia; Arnoldy, Andrea; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; Quelhas, Dulce; Diogo, Luisa; Rymen, Daisy; Jaeken, Jaak; Guffon, Nathalie; Cheillan, David; van den Heuvel, Lambertus P.; Maeda, Yusuke; Kaiser, Olaf; Schara, Ulrike; Gerner, Patrick; van den Boogert, Marjolein A. W.; Holleboom, Adriaan G.; Nassogne, Marie-Cecile; Sokal, Etienne; Salomon, Jody; van den Bogaart, Geert; Drenth, Joost P. H.; Huynen, Martijn A.; Veltman, Joris A.; Wevers, Ron A.; Morava, Eva; Matthijs, Gert; Foulquier, Francois; Marquardt, Thorsten; Lefeber, Dirk J.

研究方向

暂未获取到该数据
D
Dirk J. Lefeber
H 指数:54论文数:274被引数:1.0万
H
Hans Bakker
H 指数:33论文数:90被引数:3,750
R
Rita Gerardy‐Schahn
H 指数:64论文数:259被引数:1.2万
K
Karin Huijben
H 指数:21论文数:58被引数:2,091
R
Ron A. Wevers
H 指数:89论文数:713被引数:2.9万
É
Éva Morava
H 指数:70论文数:581被引数:1.6万
T
Thomas J. Boltje
H 指数:36论文数:145被引数:4,971
M
Monique van Scherpenzeel
H 指数:27论文数:47被引数:2,468
S
Sharita Timal
H 指数:12论文数:25被引数:1,160
J
Joris A. Veltman
H 指数:102论文数:405被引数:3.7万