受强制性开放获取政策约束的文章 - Magdalena Zimoń了解详情
无法在其他位置公开访问的文章：1 篇
Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants
R Graça, AC Alves, M Zimon, R Pepperkok, M Bourbon
Journal of Clinical Lipidology 16 (4), 516-524, 2022
强制性开放获取政策： Fundação para a Ciência e a Tecnologia, Portugal
可在其他位置公开访问的文章：15 篇
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
M Zimoń, J Baets, L Almeida-Souza, E De Vriendt, J Nikodinovic, ...
Nature genetics 44 (10), 1080-1083, 2012
强制性开放获取政策： US National Institutes of Health, Austrian Science Fund, Research Foundation …
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies
M Zimoń, J Baets, M Auer-Grumbach, J Berciano, A Garcia, E Lopez-Laso, ...
Brain 133 (6), 1798-1809, 2010
强制性开放获取政策： US National Institutes of Health, Austrian Science Fund, Research Foundation …
Genetic spectrum of hereditary neuropathies with onset in the first year of life
J Baets, T Deconinck, E De Vriendt, M Zimoń, L Yperzeele, ...
Brain 134 (9), 2664-2676, 2011
强制性开放获取政策： Austrian Science Fund, Research Foundation (Flanders)
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2
E Cottenie, A Kochanski, A Jordanova, B Bansagi, M Zimon, A Horga, ...
The American Journal of Human Genetics 95 (5), 590-601, 2014
强制性开放获取政策： US National Institutes of Health, Research Foundation (Flanders), UK Medical …
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance
K Peeters, I Litvinenko, B Asselbergh, L Almeida-Souza, T Chamova, ...
The American Journal of Human Genetics 92 (6), 955-964, 2013
强制性开放获取政策： Research Foundation (Flanders)
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
M Zimoń, J Baets, GM Fabrizi, E Jaakkola, D Kabzińska, J Pilch, ...
Neurology 77 (6), 540-548, 2011
强制性开放获取政策： Swiss National Science Foundation, US National Institutes of Health …
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy
E Ylikallio, R Pöyhönen, M Zimon, E De Vriendt, T Hilander, A Paetau, ...
Human molecular genetics 22 (15), 2975-2983, 2013
强制性开放获取政策： Research Foundation (Flanders)
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole …
D Kancheva, D Atkinson, P De Rijk, M Zimon, T Chamova, V Mitev, ...
Genetics in Medicine 18 (6), 600-607, 2016
强制性开放获取政策： Research Foundation (Flanders)
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
M Zimoń, E Battaloğlu, Y Parman, S Erdem, J Baets, E De Vriendt, ...
neurogenetics 16, 33-42, 2015
强制性开放获取政策： US National Institutes of Health, Research Foundation (Flanders)
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation
J Berciano, J Baets, E Gallardo, M Zimoń, A García, E López-Laso, ...
Journal of neurology 258, 1413-1421, 2011
强制性开放获取政策： Research Foundation (Flanders)
Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity
JS Caetano, C Costa, J Baets, L Negrão, I Fineza
Pediatric Neurology 50 (1), 104-107, 2014
强制性开放获取政策： Research Foundation (Flanders)
L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype
D Kabzińska, H Strugalska-Cynowska, A Kostera-Pruszczyk, B Ryniewicz, ...
neurogenetics 11, 357-366, 2010
强制性开放获取政策： Research Foundation (Flanders)
Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake
M Zimoń, Y Huang, A Trasta, A Halavatyi, JZ Liu, CY Chen, P Blattmann, ...
Nature communications 12 (1), 6411, 2021
强制性开放获取政策： Leducq Foundation, USA
Pairwise genetic interactions modulate lipid plasma levels and cellular uptake
M Zimon, Y Huang, A Trasta, JZ Liu, CY Chen, A Halavatyi, P Blattmann, ...
bioRxiv, 2020.10. 29.360818, 2020
强制性开放获取政策： Leducq Foundation, USA
Kristien Peeters, Ivan Litvinenko, 3 Bob Asselbergh, 2, 4 Leonardo Almeida-Souza, 2, 5 Teodora Chamova, 6
T Geuens, E Ydens, M Zimon, J Irobi, E De Vriendt, V De Winter
The American Journal of Human Genetics 92, 955-964, 2013
强制性开放获取政策： Research Foundation (Flanders)
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