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C

Carola Hedberg-Oldfors

university of gothenburg
H指数:20
被引数:1,093

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Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy

SRPK3/TTN双基因肌病的早期临床、影像及病理特征

Annals of Clinical and Translational Neurology
IF3.9
2026-05-010
OAAI
Orbach, Rotem; Donkervoort, Sandra; Hedberg-Oldfors, Carola; Baranello, Giovanni; Saade, Dimah; D'Souza, Precilla; Patel, Ruchee; Michael, Eva; Foley, A. Reghan; Bharucha-Goebel, Diana; Haugland, S. Jin; McAnally, Meghan; Hamid, Omer Abdul; Chao, Katherine; Macnamara, Ellen F.; Beggs, Alan H.; Sarkozy, Anna; Mueller, Juliane; Moore, Steven A.; Finkel, Richard S.; Tifft, Cynthia J.; Muntoni, Francesco; Oldfors, Anders; Bonnemann, Carsten G.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-12-0130
OAAI
Donkervoort, Sandra; Kutzner, Carl E.; Hu, Ying; Lornage, Xaviere; Rendu, John; Stojkovic, Tanya; Baets, Jonathan; Neuhaus, Sarah B.; Tanboon, Jantima; Maroofian, Reza; Bolduc, Veronique; Mroczek, Magdalena; Conijn, Stefan; Kuntz, Nancy L.; Topf, Ana; Monges, Soledad; Lubieniecki, Fabiana; McCarty, Riley M.; Chao, Katherine R.; Governali, Serena; Bohm, Johann; Boonyapisit, Kanokwan; Malfatti, Edoardo; Sangruchi, Tumtip; Horkayne-Szakaly, Iren; Hedberg-Oldfors, Carola; Efthymiou, Stephanie; Noguchi, Satoru; Djeddi, Sarah; Iida, Aritoshi; di Rosa, Gabriella; Fiorillo, Chiara; Salpietro, Vincenzo; Darin, Niklas; Faure, Julien; Houlden, Henry; Oldfors, Anders; Nishino, Ichizo; de Ridder, Willem; Straub, Volker; Pokrzywa, Wojciech; Laporte, Jocelyn; Foley, A. Reghan; Romero, Norma B.; Ottenheijm, Coen; Hoppe, Thorsten; Boennemann, Carsten G.
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles
BRAIN
IF11.7
2020-08-100
OAAI
Hedberg-Oldfors, Carola; Meyer, Robert; Nolte, Kay; Abdul Rahim, Yassir; Lindberg, Christopher; Karason, Kristjan; Thuestad, Inger Johanne; Visuttijai, Kittichate; Geijer, Mats; Begemann, Matthias; Kraft, Florian; Lausberg, Eva; Hitpass, Lea; Gotzl, Rebekka; Luna, Elizabeth J.; Lochmuller, Hanns; Koschmieder, Steffen; Gramlich, Michael; Gess, Burkhard; Elbracht, Miriam; Weis, Joachim; Kurth, Ingo; Oldfors, Anders; Knopp, Cordula

研究方向

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A
Anders Oldfors
H 指数:65论文数:775被引数:2.0万
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Kittichate Visuttijai
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C
Christopher Lindberg
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U
Ulrika Lindgren
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N
Niklas Darín
H 指数:46论文数:490被引数:8,085
C
Christer Thomsen
H 指数:13论文数:29被引数:595
A
Anders Oldfors
H 指数:2论文数:6被引数:43
E
Erik Larsson
H 指数:70论文数:291被引数:6.1万
S
Swaraj Basu
H 指数:21论文数:166被引数:1,875
M
Maria Falkenberg
H 指数:57论文数:125被引数:1.3万