| 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 | 148 | 2012 |
| 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 | 148 | 2010 |
| 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 | 141 | 2011 |
| 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 | 130 | 2013 |
| 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 | 114 | 2014 |
| 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 | 107 | 2011 |
| 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 | 94 | 2013 |
| 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 | 46 | 2015 |
| 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 | 43 | 2016 |
| 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 | 32 | 2011 |
| 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 | 30 | 2014 |
| 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 | 23 | 2010 |
| 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 | 10 | 2022 |
| High-Throughput Microscopy Characterization of Rare LDLR Variants R Graça, M Zimon, AC Alves, R Pepperkok, M Bourbon Basic to Translational Science 8 (8), 1010-1021, 2023 | 4 | 2023 |
| S274: A NOVEL SUBTYPE OF ANEMIA CAUSED BY MUTATIONS IN TFRC GENE S Colucci, V Venturi, F Nicole, DJ Solavera, M Zimon, ... HemaSphere 6, 175-176, 2022 | 1 | 2022 |
| 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 (1), 108-108, 2016 | 1 | 2016 |
| 4. Neurophysiologic and clinical characteristic of neuromyotonia in new hereditary neuromuscular disorder VM Rasic, J Nikodinovic, J Mladenovic, P De Jonghe, A Jordanova, ... Clinical Neurophysiology 124 (7), e10, 2013 | 1 | 2013 |
| FUNCTIONAL CHARACTERISATION OF RARE LDLR VARIANTS-QUANTITATIVE HIGH-THROUGHPUT MICROSCOPY R Graca, M Zimon, AC Alves, R Pepperkok, M Bourbon MEDICINE 100 (4), 2021 | | 2021 |
| Genetic interactions modulate lipid plasma levels and cellular uptake M Zimon, Y Huang, A Trasta, J Liu, C Chen, A Halavatyi, P Blattmann, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 64-64, 2020 | | 2020 |
| Gene-gene interactions at GWAS loci modulate lipid plasma levels and cellular uptake of low-density lipoprotein M Zimon, A Trasta, Y Huang, J Liu, A Halavatyi, B Klaus, R Pepperkok, ... Atherosclerosis 315, e191, 2020 | | 2020 |
