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| Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B) A Muchir, G Bonne, AJ van der Kooi, M van Meegen, F Baas, PA Bolhuis, ... Human molecular genetics 9 (9), 1453-1459, 2000 | 760 | 2000 |
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| Mutations in ABCC6 cause pseudoxanthoma elasticum AAB Bergen, AS Plomp, EJ Schuurman, S Terry, M Breuning, ... Nature genetics 25 (2), 228, 2000 | 697 | 2000 |
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| The unfolded protein response is activated in Alzheimer’s disease JJM Hoozemans, R Veerhuis, ES Van Haastert, JM Rozemuller, F Baas, ... Acta neuropathologica 110, 165-172, 2005 | 645 | 2005 |
| Inactivating Mutations in the Gene for Thyroid Oxidase 2 (THOX2) and Congenital Hypothyroidism JC Moreno, H Bikker, MJE Kempers, ASP Van Trotsenburg, F Baas, ... New England Journal of Medicine 347 (2), 95-102, 2002 | 623 | 2002 |
| Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1268-1283. e6, 2018 | 601 | 2018 |
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| Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A LJ Valentijn, F Baas, RA Wolterman, JE Hoogendijk, NHA van den Bosch, ... Nature genetics 2 (4), 288-291, 1992 | 503 | 1992 |
| Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells JCT Van Deutekom, M Bremmer-Bout, AAM Janson, IB Ginjaar, F Baas, ... Human molecular genetics 10 (15), 1547-1554, 2001 | 498 | 2001 |
| Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13. 2–21.3 C Vance, A Al-Chalabi, D Ruddy, BN Smith, X Hu, J Sreedharan, ... Brain 129 (4), 868-876, 2006 | 497 | 2006 |
Antoine van KampenProfessor of Medical Bioinformatics, University of AmsterdamVerified email at amc.uva.nl
