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Academic Journal
Marouane, Abderrahim; Neveling, Kornelia; Deden, A. Chantal; van den Heuvel, Simone; Zafeiropoulou, Dimitra; Castelein, Steven; van de Veerdonk, Frank; Koolen, David A.; Simons, Annet; Rodenburg, Richard; Westra, Dineke; Mensenkamp, Arjen R.; de Leeuw, Nicole; Ligtenberg, Marjolijn; Matthijsse, Rene; Pfundt, Rolph; Kamsteeg, Erik Jan; Brunner, Han G.; Gilissen, Christian; Feenstra, Ilse
Frontiers in Genetics; 2024, p1-9, 9p
Academic Journal
O'Grady, Lauren; Schrier Vergano, Samantha A.; Hoffman, Trevor L.; Sarco, Dean; Cherny, Sara; Bryant, Emily; Schultz‐Rogers, Laura; Chung, Wendy K.; Sacharow, Stephanie; Immken, Ladonna L.; Holder, Susan; Blackwell, Rebecca R.; Buchanan, Catherine; Yusupov, Roman; Lecoquierre, François; Guerrot, Anne‐Marie; Rodan, Lance; de Vries, Bert B. A.; Kamsteeg, Erik Jan; Santos Simarro, Fernando
American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2750-2759, 10p
Academic Journal
Hillen, Lisa Maria; Kamsteeg, Erik Jan; Schoots, Jeroen; Tiebosch, Anton Tom; Speel, Ernst Jan; Roemen, Guido M.; Peutz-Koostra, Carine J.; Stumpel, Constance T.R.M.
Academic Journal
Hillen, Lisa Maria; Kamsteeg, Erik Jan; Schoots, Jeroen; Tiebosch, Anton Tom; Speel, Ernst Jan; Roemen, Guido M.; Peutz-Koostra, Carine J.; Stumpel, Constance T.R.M.
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
Electronic Resource
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; Rubio Gozalbo, M.E.; Sallevelt, Suzanne C.E.H.; Koudijs, Suzanne M.; Nicolai, Joost; de Bie, Charlotte I.; Hoogendijk, Jessica E.; Koopman, Werner J.H.; Rodenburg, Richard J.
ISSN: 0925-4439
Electronic Resource
Bouma, Sietse; Cobben, Nicolle; Bouman, Karlijn; Gaytant, Michael; van de Biggelaar, Ries; van Doorn, Jeroen; Reumers, Stacha F.I.; Voet, Nicoline BM; Doorduin, Jonne; Erasmus, Corrie E.; Kamsteeg, Erik Jan; Jungbluth, Heinz; Wijkstra, Peter; Voermans, Nicol C.
Bouma , S , Cobben , N , Bouman , K , Gaytant , M , van de Biggelaar , R , van Doorn , J , Reumers , S F I , Voet , N BM , Doorduin , J , Erasmus , C E , Kamsteeg , E J , Jungbluth , H , Wijkstra , P & Voermans , N C 2023 , ' Respiratory features of centronuclear myopathy in the Netherlands ' , Neuromuscular Disorders , vol. 33 , no. 7 , pp. 580-588 .
Electronic Resource
Sheppard, Sarah E.; Bryant, Laura; Wickramasekara, Rochelle N.; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J.; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Celeste Simon, M.; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Da Silva, Renata Pellegrino; Li, Dong; March, Michael; Diaz-Rosado, Abdias; de Barcelos, Isabella Peixoto; Choa, Zhao Xiang; Lim, Chin Yan; Dubourg, Christèle; Journel, Hubert; Demurger, Florence; Mulhern, Maureen; Akman, Cigdem; Lippa, Natalie; Andrews, Marisa; Baldridge, Dustin; Constantino, John; van Haeringen, Arie; Snoeck-Streef, Irina; Chow, Penny; Hing, Anne; Graham, John M.; Au, Margaret; Faivre, Laurence; Shen, Wei; Mao, Rong; Palumbos, Janice; Viskochil, David; Gahl, William; Tifft, Cynthia; Macnamara, Ellen; Hauser, Natalie; Miller, Rebecca; Maffeo, Jessica; Afenjar, Alexandra; Doummar, Diane; Keren, Boris; Arn, Pamela; Macklin-Mantia, Sarah; Meerschaut, Ilse; Callewaert, Bert; Reis, André; Zweier, Christiane; Brewer, Carole; Saggar, Anand; Smeland, Marie F.; Kumar, Ajith; Elmslie, Frances; Deshpande, Charu; Nizon, Mathilde; Cogne, Benjamin; van Ierland, Yvette; Wilke, Martina; van Slegtenhorst, Marjon; Koudijs, Suzanne; Chen, Jin Yun; Dredge, David; Pier, Danielle; Wortmann, Saskia; Kamsteeg, Erik Jan; Koch, Johannes; Haynes, Devon; Pollack, Lynda; Titheradge, Hannah; Ranguin, Kara; Denommé-Pichon, Anne Sophie; Weber, Sacha; de la Fuente, Rubén Pérez; del Pozo, Jaime Sánchez; Rosales, Jose Miguel Lezana; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mei, Davide; Mari, Francesco; Guerrini, Renzo; Lespinasse, James; Mau-Them, Frédéric Tran; Philippe, Christophe; Dauriat, Benjamin; Raymond, Laure; Moutton, Sébastien; Cueto-González, Anna M.; Tan, Tiong Yang; Mignot, Cyril; Grotto, Sarah; Renaldo, Florence; Drivas, Theodore G.; Hennessy, Laura; Raper, Anna; Parenti, Ilaria; Kaiser, Frank J.; Kuechler, Alma; Busk, Øyvind L.; Islam, Lily; Siedlik, Jacob A.; Henderson, Lindsay B.; Juusola, Jane; Person, Richard; Schnur, Rhonda E.; Vitobello, Antonio; Banka, Siddharth; Bhoj, Elizabeth J.; Stessman, Holly A.F.
Sheppard , S E , Bryant , L , Wickramasekara , R N , Vaccaro , C , Robertson , B , Hallgren , J , Hulen , J , Watson , C J , Faundes , V , Duffourd , Y , Lee , P , Celeste Simon , M , de la Cruz , X , Padilla , N , Flores-Mendez , M , Akizu , N , Smiler , J , Da Silva , R P , Li , D , March , M , Diaz-Rosado , A , de Barcelos , I P , Choa , Z X , Lim , C Y , Dubourg , C , Journel , H , Demurger , F , Mulhern , M , Akman , C , Lippa , N , Andrews , M , Baldridge , D , Constantino , J , van Haeringen , A , Snoeck-Streef , I , Chow , P , Hing , A , Graham , J M , Au , M , Faivre , L , Shen , W , Mao , R , Palumbos , J , Viskochil , D , Gahl , W , Tifft , C , Macnamara , E , Hauser , N , Miller , R , Maffeo , J , Afenjar , A , Doummar , D , Keren , B , Arn , P , Macklin-Mantia , S , Meerschaut , I , Callewaert , B , Reis , A , Zweier , C , Brewer , C , Saggar , A , Smeland , M F , Kumar , A , Elmslie , F , Deshpande , C , Nizon , M , Cogne , B , van Ierland , Y , Wilke , M , van Slegtenhorst , M , Koudijs , S , Chen , J Y , Dredge , D , Pier , D , Wortmann , S , Kamsteeg , E J , Koch , J , Haynes , D , Pollack , L , Titheradge , H , Ranguin , K , Denommé-Pichon , A S , Weber , S , de la Fuente , R P , del Pozo , J S , Rosales , J M L , Joset , P , Steindl , K , Rauch , A , Mei , D , Mari , F , Guerrini , R , Lespinasse , J , Mau-Them , F T , Philippe , C , Dauriat , B , Raymond , L , Moutton , S , Cueto-González , A M , Tan , T Y , Mignot , C , Grotto , S , Renaldo , F , Drivas , T G , Hennessy , L , Raper , A , Parenti , I , Kaiser , F J , Kuechler , A , Busk , Ø L , Islam , L , Siedlik , J A , Henderson , L B , Juusola , J , Person , R , Schnur , R E , Vitobello , A , Banka , S , Bhoj , E J & Stessman , H A F 2023 , ' Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice ' , Science advances , vol. 9 , no. 10 , eade1463 .
Electronic Resource
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies
Electronic Resource
Bachmann, Christoph; Franchini, Martina; Van Den Bersselaar, Luuk R.; Kruijt, Nick; Voermans, Nicol C.; Bouman, Karlijn; Kamsteeg, Erik Jan; Knop, Karl Christian; Ruggiero, Lucia; Santoro, Lucio; Nevo, Yoram; Wilmshurst, Jo; Vissing, John; Sinnreich, Michael; Zorzato, Daniele; Muntoni, Francesco; Jungbluth, Heinz; Zorzato, Francesco; Treves, Susan
Bachmann , C , Franchini , M , Van Den Bersselaar , L R , Kruijt , N , Voermans , N C , Bouman , K , Kamsteeg , E J , Knop , K C , Ruggiero , L , Santoro , L , Nevo , Y , Wilmshurst , J , Vissing , J , Sinnreich , M , Zorzato , D , Muntoni , F , Jungbluth , H , Zorzato , F & Treves , S 2022 , ' Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies ' , Brain Communications , vol. 4 , no. 5 , fcac224 .
Van Den Bersselaar, Luuk R.; Hellblom, Anna; Gashi, Mejdan; Kamsteeg, Erik Jan; Voermans, Nicol C.; Jungbluth, Heinz; De Puydt, Joris; Heytens, Luc; Riazi, Sheila; Snoeck, Marc M.J.
Anesthesiology. 136(6):940-953
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[AR] Kamsteeg, Erik Jan
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