학술논문
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SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
Academic Journal
Bulthuis, Elianne P.; Adjobo-Hermans, Merel J.W.; de Potter, Bastiaan; Hoogstraten, Saskia; Wezendonk, Lisanne H.T.; Tutakhel, Omar A.Z.; Wintjes, Liesbeth T.; van den Heuvel, Bert; Willems, Peter H.G.M.; Kamsteeg, Erik-Jan; Gozalbo, M. Estela Rubio; Sallevelt, Suzanne C.E.H.; Koudijs, Suzanne M.; Nicolai, Joost; de Bie, Charlotte I.; Hoogendijk, Jessica E.; Koopman, Werner J.H.; Rodenburg, Richard J.
In BBA - Molecular Basis of Disease December 2023 1869(8)
Academic Journal
Maas, Roderick P.P.W.M.; Kamsteeg, Erik-Jan; Mangano, Salvatore; Vázquez López, María Esther; Nicolai, Joost; Silver, Kenneth; Fernández-Alvarez, Emilio; Willemsen, Michèl A.A.P.
In European Journal of Paediatric Neurology November 2018 22(6):1110-1117
Academic Journal
Lotte, Jan; Bast, Thomas; Borusiak, Peter; Coppola, Antonietta; Cross, J. Helen; Dimova, Petia; Fogarasi, Andras; Graneß, Irene; Guerrini, Renzo; Hjalgrim, Helle; Keimer, Reinhard; Korff, Christian M.; Kurlemann, Gerhard; Leiz, Steffen; Linder-Lucht, Michaela; Loddenkemper, Tobias; Makowski, Christine; Mühe, Christian; Nicolai, Joost; Nikanorova, Marina; Pellacani, Simona; Philip, Sunny; Ruf, Susanne; Sánchez Fernández, Iván; Schlachter, Kurt; Striano, Pasquale; Sukhudyan, Biayna; Valcheva, Deyana; Vermeulen, R. Jeroen; Weisbrod, Tanja; Wilken, Bernd; Wolf, Philipp; Kluger, Gerhard
In Seizure: European Journal of Epilepsy February 2016 35:106-110
Academic Journal
Overvliet, Geke M.; Aldenkamp, Albert P.; Klinkenberg, Sylvia; Nicolai, Joost; Vles, Johan S.H.; Besseling, René M.H.; Backes, Walter; Jansen, Jacobus F.A.; Hofman, Paul A.; Hendriksen, Jos
In Epilepsy & Behavior November 2011 22(3):527-531
Academic Journal
In Epilepsy and Behavior 2011 22(1):134-136
Academic Journal
In Journal of the Neurological Sciences 2008 271(1):1-14
Academic Journal
In Seizure: European Journal of Epilepsy 2006 15(4):249-258
Academic Journal
In Epilepsy and Behavior 2006 8(1):56-70
Periodical
Loong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T.; Alt, Kerstin; Böhrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R.; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M.; Kuhn, Marius; Lemke, Johannes R.; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K.; Płoski, Rafał; Quarrell, Oliver W.; Rosello, Monica; Rydzanicz, Małgorzata; Sabir, Ataf; Śmigiel, Robert; Stegmann, Alexander P.A.; Stewart, Helen; Stumpel, Constance; Szczepanik, Elżbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C.; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha
Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p37-48, 12p
Periodical
Kayumi, Sayaka; Pérez-Jurado, Luis A.; Palomares, María; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; García-Miñaúr, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Míguez, Marta; Pozo, Angela del; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; Perez de Nanclares, Guiomar; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernández-Cuesta, María Ángeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P.A.; Sinnema, Margje; Stevens, Servi C.J.; Nicolai, Joost; Lesca, Gaetan; Lion-François, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A.
Genetics in Medicine; November 2022, Vol. 24 Issue: 11 p2351-2366, 16p
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[AR] Nicolai, Joost
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