| Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine P Gormley, V Anttila, BS Winsvold, P Palta, T Esko, TH Pers, KH Farh, ... Nature genetics 48 (8), 856-866, 2016 | 743 | 2016 |
| A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy M Muona, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic, MA Bayly, ... Nature genetics 47 (1), 39-46, 2015 | 319 | 2015 |
| Segmental isotopic labeling of multi-domain and fusion proteins by protein trans-splicing in vivo and in vitro M Muona, AS Aranko, V Raulinaitis, H Iwaï nature protocols 5 (3), 574-587, 2010 | 96 | 2010 |
| Biallelic variants in UBA5 link dysfunctional UFM1 ubiquitin-like modifier pathway to severe infantile-onset encephalopathy M Muona, R Ishimura, A Laari, Y Ichimura, T Linnankivi, R Keski-Filppula, ... The American Journal of Human Genetics 99 (3), 683-694, 2016 | 81 | 2016 |
| Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties KL Oliver, S Franceschetti, CJ Milligan, M Muona, SA Mandelstam, ... Annals of neurology 81 (5), 677-689, 2017 | 75 | 2017 |
| Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings E Gaily, AK Anttonen, L Valanne, E Liukkonen, AL Träskelin, A Polvi, ... Epilepsia 54 (9), 1577-1585, 2013 | 64 | 2013 |
| Segmental isotopic labelling of a multidomain protein by protein ligation by protein trans-splicing M Muona, AS Aranko, H Iwai ChemBioChem 9 (18), 2958, 2008 | 56 | 2008 |
| Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia JA Damiano, Z Afawi, M Bahlo, M Mauermann, A Misk, T Arsov, KL Oliver, ... Human molecular genetics 24 (16), 4483-4490, 2015 | 50 | 2015 |
| Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes C Courage, KL Oliver, EJ Park, JM Cameron, KA Grabińska, M Muona, ... The American Journal of Human Genetics 108 (4), 722-738, 2021 | 46 | 2021 |
| Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy M Muona, Y Fukata, AK Anttonen, A Laari, A Palotie, H Pihko, T Lönnqvist, ... Neurology: Genetics 2 (1), e46, 2016 | 38 | 2016 |
| ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss AK Anttonen, A Laari, M Kousi, YJ Yang, T Jääskeläinen, M Somer, ... Brain 140 (5), 1267-1279, 2017 | 33 | 2017 |
| Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients J Hathaway, K Heliö, I Saarinen, J Tallila, EH Seppälä, S Tuupanen, ... BMC cardiovascular disorders 21, 1-11, 2021 | 28 | 2021 |
| Habitual sleep disturbances and migraine: a Mendelian randomization study I Daghlas, A Vgontzas, Y Guo, DI Chasman, ... Annals of clinical and translational neurology 7 (12), 2370-2380, 2020 | 25 | 2020 |
| Allele-specific regulation of DISC1 expression by miR-135b-5p M Rossi, H Kilpinen, M Muona, I Surakka, C Ingle, J Lahtinen, W Hennah, ... European Journal of Human Genetics 22 (6), 840-843, 2014 | 25 | 2014 |
| Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates MJ MacPherson, SL Erickson, D Kopp, P Wen, MR Aghanoori, S Kedia, ... Cell Reports 35 (10), 2021 | 23 | 2021 |
| Progressive myoclonus epilepsy associated with SACS gene mutations FA Nascimento, L Canafoglia, D Aljaafari, M Muona, AE Lehesjoki, ... Neurology: Genetics 2 (4), e83, 2016 | 19 | 2016 |
| Long‐term follow‐up of two siblings with adult‐onset neuronal ceroid lipofuscinosis, Kufs type A Ç Özkara, A Gündüz, T Coşkun, BG Alpaslan, B Zeydan, Ş Delil, M Muona, ... Epileptic Disorders 19 (2), 147-151, 2017 | 17 | 2017 |
| Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy LC Bott, M Forouhan, M Lieto, AJ Sala, R Ellerington, JO Johnson, ... Brain communications 3 (4), fcab245, 2021 | 16 | 2021 |
| CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants YA Zarate, T Uehara, K Abe, M Oginuma, S Harako, S Ishitani, ... Genetics in Medicine 23 (6), 1050-1057, 2021 | 14 | 2021 |
| A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome V Nevanlinna, S Konovalova, B Ceulemans, M Muona, A Laari, ... European Journal of Medical Genetics 63 (3), 103766, 2020 | 13 | 2020 |
