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Brain pathology (Zurich, Switzerland), 2015-11, Vol.25 (6), p.663-678
2015
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Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain
2018
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Journal of inherited metabolic disease, 2018, Vol.41 (1), p.101-108
2018
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Genetics in medicine, 2018-01, Vol.20 (1), p.109-118
2018
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Pediatric neurology, 2024-09, Vol.158, p.57-65
- Smeets, Nathalie
- Gheldof, Alexander
- Dequeker, Bart
- Poleur, Margaux
- Maldonado Slootjes, Sofia
- Van Parijs, Vinciane
- Deconinck, Nicolas
- Dontaine, Pauline
- Alonso-Jimenez, Alicia
- De Bleecker, Jan
- De Ridder, Willem
- Herdewyn, Sarah
- Paquay, Stéphanie
- Vanlander, Arnaud
- De Waele, Liesbeth
- Peirens, Geertrui
- Beysen, Diane
- Claeys, Kristl G.
- Dubuisson, Nicolas
- Hansen, Isabelle
- Remiche, Gauthier
- Seneca, Sara
- Bissay, Véronique
- Régal, Luc
2024
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Frontiers in genetics, 2020-02, Vol.11, p.26
2020
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Neurology, 2014-04, Vol.82 (14), p.1254
2014
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Journal of medical genetics, 2021-01, Vol.58 (1), p.33
- Brock, Stefanie
- Vanderhasselt, Tim
- Vermaning, Sietske
- Keymolen, Kathelijn
- Régal, Luc
- Romaniello, Romina
- Wieczorek, Dagmar
- Storm, Tim Matthias
- Schaeferhoff, Karin
- Hehr, Ute
- Kuechler, Alma
- Krägeloh-Mann, Ingeborg
- Haack, Tobias B
- Kasteleijn, Esmee
- Schot, Rachel
- Mancini, Grazia Maria Simonetta
- Webster, Richard
- Mohammad, Shekeeb
- Leventer, Richard J
- Mirzaa, Ghayda
- Dobyns, William B
- Bahi-Buisson, Nadia
- Meuwissen, Marije
- Jansen, Anna C
- Stouffs, Katrien
2021
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International journal of cardiology, 2018-10, Vol.269, p.104-110
2018
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Human molecular genetics, 2013-01, Vol.22 (1), p.61-73
2013
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Journal of inherited metabolic disease, 2022-07, Vol.45 (4), p.819-831
2022
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Annals of neurology, 2010-08, Vol.68 (2), p.259-263
2010
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Human mutation, 2016-07, Vol.37 (7), p.653-660
- Ng, Bobby G.
- Shiryaev, Sergey A.
- Rymen, Daisy
- Eklund, Erik A.
- Raymond, Kimiyo
- Kircher, Martin
- Abdenur, Jose E.
- Alehan, Fusun
- Midro, Alina T.
- Bamshad, Michael J.
- Barone, Rita
- Berry, Gerard T.
- Brumbaugh, Jane E.
- Buckingham, Kati J.
- Clarkson, Katie
- Cole, F. Sessions
- O'Connor, Shawn
- Cooper, Gregory M.
- Van Coster, Rudy
- Demmer, Laurie A.
- Diogo, Luisa
- Fay, Alexander J.
- Ficicioglu, Can
- Fiumara, Agata
- Gahl, William A.
- Ganetzky, Rebecca
- Goel, Himanshu
- Harshman, Lyndsay A.
- He, Miao
- Jaeken, Jaak
- James, Philip M.
- Katz, Daniel
- Keldermans, Liesbeth
- Kibaek, Maria
- Kornberg, Andrew J.
- Lachlan, Katherine
- Lam, Christina
- Yaplito-Lee, Joy
- Nickerson, Deborah A.
- Peters, Heidi L.
- Race, Valerie
- Régal, Luc
- Rush, Jeffrey S.
- Rutledge, S. Lane
- Shendure, Jay
- Souche, Erika
- Sparks, Susan E.
- Trapane, Pamela
- Sanchez-Valle, Amarilis
- Vilain, Eric
- Vøllo, Arve
- Waechter, Charles J.
- Wang, Raymond Y.
- Wolfe, Lynne A.
- Wong, Derek A.
- Wood, Tim
- Yang, Amy C.
- Matthijs, Gert
- Freeze, Hudson H.
2016
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Developmental medicine and child neurology, 2012-03, Vol.54 (3), p.288-288
2012
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Orphanet journal of rare diseases, 2012-12, Vol.7 (1), p.94-94, Article 94
2012
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American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1642-1646
2016
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CNS & neurological disorders drug targets, 2011-05, Vol.10 (3), p.355
2011
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Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.614-616
2012
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European journal of paediatric neurology, 2011-05, Vol.15 (3), p.265-267
2011
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Orphanet journal of rare diseases, 2020-05, Vol.15 (1), p.126-126, Article 126
- Opladen, Thomas
- López-Laso, Eduardo
- Cortès-Saladelafont, Elisenda
- Pearson, Toni S
- Sivri, H Serap
- Yildiz, Yilmaz
- Assmann, Birgit
- Kurian, Manju A
- Leuzzi, Vincenzo
- Heales, Simon
- Pope, Simon
- Porta, Francesco
- García-Cazorla, Angeles
- Honzík, Tomáš
- Pons, Roser
- Regal, Luc
- Goez, Helly
- Artuch, Rafael
- Hoffmann, Georg F
- Horvath, Gabriella
- Thöny, Beat
- Scholl-Bürgi, Sabine
- Burlina, Alberto
- Verbeek, Marcel M
- Mastrangelo, Mario
- Friedman, Jennifer
- Wassenberg, Tessa
- Jeltsch, Kathrin
- Kulhánek, Jan
- Kuseyri Hübschmann, Oya
2020
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iScience, 2021-12, Vol.24 (12), p.103460-103460, Article 103460
- Rosier, Karen
- McDevitt, Molly T.
- Smet, Joél
- Floyd, Brendan J.
- Verschoore, Maxime
- Marcaida, Maria J.
- Bingman, Craig A.
- Lemmens, Irma
- Dal Peraro, Matteo
- Tavernier, Jan
- Cravatt, Benjamin F.
- Gounko, Natalia V.
- Vints, Katlijn
- Monnens, Yenthe
- Bhalla, Kritika
- Aerts, Laetitia
- Rashan, Edrees H.
- Vanlander, Arnaud V.
- Van Coster, Rudy
- Régal, Luc
- Pagliarini, David J.
- Creemers, John W.M.
2021
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American journal of human genetics, 2014-12, Vol.95 (6), p.708-720
- Kopajtich, Robert
- Nicholls, Thomas J.
- Rorbach, Joanna
- Metodiev, Metodi D.
- Freisinger, Peter
- Mandel, Hanna
- Vanlander, Arnaud
- Ghezzi, Daniele
- Carrozzo, Rosalba
- Taylor, Robert W.
- Marquard, Klaus
- Murayama, Kei
- Wieland, Thomas
- Schwarzmayr, Thomas
- Mayr, Johannes A.
- Pearce, Sarah F.
- Powell, Christopher A.
- Saada, Ann
- Ohtake, Akira
- Invernizzi, Federica
- Lamantea, Eleonora
- Sommerville, Ewen W.
- Pyle, Angela
- Chinnery, Patrick F.
- Crushell, Ellen
- Okazaki, Yasushi
- Kohda, Masakazu
- Kishita, Yoshihito
- Tokuzawa, Yoshimi
- Assouline, Zahra
- Rio, Marlène
- Feillet, François
- Mousson de Camaret, Bénédict
- Chretien, Dominique
- Munnich, Arnold
- Menten, Björn
- Sante, Tom
- Smet, Joél
- Régal, Luc
- Lorber, Abraham
- Khoury, Asaad
- Zeviani, Massimo
- Strom, Tim M.
- Meitinger, Thomas
- Bertini, Enrico S.
- Van Coster, Rudy
- Klopstock, Thomas
- Rötig, Agnès
- Haack, Tobias B.
- Minczuk, Michal
- Prokisch, Holger
2014
Link zum Volltext
Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.143-156
- NAMAVAR, Yasmin
- BARTH, Peter G
- BASEL-VANAGAITE, Lina
- EGGENS, Veerle R. C
- KRÄGELOH-MANN, Ingeborg
- DE MEIRLEIR, Linda
- KING, Mary
- GRAHAM JR, John M
- VON MOERS, Arpad
- KNOERS, Nine
- SZTRIHA, Laszlo
- KORINTHENBERG, Rudolf
- KASHER, Paul R
- DOBYNS, William B
- BAAS, Frank
- TIEN POLL-THE, Bwee
- VAN RUISSEN, Fred
- BROCKMANN, Knut
- BERNERT, Günther
- WRITZL, Karin
- VENTURA, Karen
- CHENG, Edith Y
- FERRIERO, Donna M
2011
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Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.202-202, Article 202
- Opladen, Thomas
- López-Laso, Eduardo
- Cortès-Saladelafont, Elisenda
- Pearson, Toni S
- Sivri, H Serap
- Yildiz, Yilmaz
- Assmann, Birgit
- Kurian, Manju A
- Leuzzi, Vincenzo
- Heales, Simon
- Pope, Simon
- Porta, Francesco
- García-Cazorla, Angeles
- Honzík, Tomáš
- Pons, Roser
- Regal, Luc
- Goez, Helly
- Artuch, Rafael
- Hoffmann, Georg F
- Horvath, Gabriella
- Thöny, Beat
- Scholl-Bürgi, Sabine
- Burlina, Alberto
- Verbeek, Marcel M
- Mastrangelo, Mario
- Friedman, Jennifer
- Wassenberg, Tessa
- Jeltsch, Kathrin
- Kulhánek, Jan
- Kuseyri Hübschmann, Oya
2020
Link zum Volltext
JIMD reports, 2019-09, Vol.49 (1), p.70-79
2019
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