Originalpublikationer Vineta Fellman
Davoudi M, Kotarsky H, Hansson E, Kallijärvi J, Fellman V. COX7A2L/SCAFI and Pre-Complex III Modify Respiratory Chain Supercomplex Formation in Different Mouse Strains with a Bcs1l Mutation. PLoS One 11: e0168774, 2016
Rajendran J, Tomašić N, Kotarsky H, Hansson E, Velagapudi V, Kallijärvi J, Fellman V. Effect of High-Carbohydrate Diet on Plasma Metabolome in Mice with Mitochondrial Respiratory Chain Complex III Deficiency. Int J Mol Sci 17: E1824, 2016
Originalpublikationer Juha Kere
Einarsdottir E, Hafrén L, Leinonen E, Bhutta MF, Kentala E, Kere J, Mattila PS. Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion. Sci Rep 6: 33240, 2016
Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drögemüller C, Lohi H. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet 12: e1006037, 2016
Jouhilahti EM, Madissoon E, Vesterlund L, Töhönen V, Krjutškov K, Plaza Reyes A, Petropoulos S, Månsson R, Linnarsson S, Bürglin T, Lanner F, Hovatta O, Katayama S, Kere J. The human PRD-like homeobox gene LEUTX has a central role in embryo genome activation. Development 143: 3459-3469, 2016
Jääskeläinen T, Heinonen S, Kajantie E, Kere J, Kivinen K, Pouta A, Laivuori H; FINNPEC Study Group. Cohort profile: the Finnish Genetics of Pre-eclampsia Consortium (FINNPEC). BMJ Open 6: e013148, 2016
Kaartokallio T, Cervera A, Kyllönen A, Laivuori K, Kere J, Laivuori H; FINNPEC Core Investigator Group. Corrigendum: Gene expression profiling of pre-eclamptic placentae by RNA sequencing. Sci Rep 6: 17245, 2016
Kaartokallio T, Lokki AI, Peterson H, Kivinen K, Hiltunen L, Salmela E, Lappalainen T, Maanselkä P, Heino S, Knuutila S, Sayed A, Poston L, Brennecke SP, Johnson MP, Morgan L, Moses EK, Kere J, Laivuori H. 27. Preeclampsia does not share common risk alleles in 9p21 with coronary artery disease and type 2 diabetes. Ann Med 48: 330-336, 2016
Kaartokallio T, Wang J, Heinonen S, Kajantie E, Kivinen K, Pouta A, Gerdhem P, Jiao H, Kere J, Laivuori H. Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants. Sci Rep 6: 29085, 2016
Kallela J, Jääskeläinen T, Kortelainen E, Heinonen S, Kajantie E, Kere J, Kivinen K, Pouta A, Laivuori H. The diagnosis of pre-eclampsia using two revised classifications in the Finnish Pre-eclampsia Consortium (FINNPEC) cohort. BMC Pregnancy Childbirth 16: 221, 2016
Karppanen T, Kaartokallio T, Klemetti MM, Heinonen S, Kajantie E, Kere J, Kivinen K, Pouta A, Staff AC, Laivuori H. An RGS2 3'UTR polymorphism is associated with preeclampsia in overweight women. BMC Genet 17: 121, 2016
Krjutškov K, Katayama S, Saare M, Vera-Rodriguez M, Lubenets D, Samuel K, Laisk-Podar T, Teder H, Einarsdottir E, Salumets A, Kere J. Single-cell transcriptome analysis of endometrial tissue. Hum Reprod 31: 844-853, 2016
Krjutškov K, Koel M, Roost AM, Katayama S, Einarsdottir E, Jouhilahti EM, Söderhäll C, Jaakma Ü, Plaas M, Vesterlund L, Lohi H, Salumets A, Kere J. Globin mRNA reduction for whole-blood transcriptome sequencing. Sci Rep 6: 31584, 2016
Körber I, Katayama S, Einarsdottir E, Krjutškov K, Hakala P, Kere J, Lehesjoki AE, Joensuu T. Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia. PLoS One 11: e0158195., 2016
Madissoon E, Jouhilahti EM, Vesterlund L, Töhönen V, Krjutškov K, Petropoulous S, Einarsdottir E, Linnarsson S, Lanner F, Månsson R, Hovatta O, Bürglin TR, Katayama S, Kere J. Characterization and target genes of nine human PRD-like homeobox domain genes expressed exclusively in early embryos. Sci Rep 6: 28995, 2016
Massinen S, Wang J, Laivuori K, Bieder A, Tapia Paez I, Jiao H, Kere J. Genomic sequencing of a dyslexia susceptibility haplotype encompassing ROBO1.
J Neurodev Disord 8: 4, 2016
Matsson H, Söderhäll C, Einarsdottir E, Lamontagne M, Gudmundsson S, Backman H, Lindberg A, Rönmark E, Kere J, Sin D, Postma DS, Bossé Y, Lundbäck B, Klar J. Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease. BMC Pulm Med 16: 146, 2016
Salmela E, Renvall H, Kujala J, Hakosalo O, Illman M, Vihla M, Leinonen E, Salmelin R, Kere J. Evidence for genetic regulation of the human parieto-occipital 10-Hz rhythmic activity. Eur J Neurosci 44: 1963-1971, 2016
Tammimies K, Bieder A, Lauter G, Sugiaman-Trapman D, Torchet R, Hokkanen ME, Burghoorn J, Castrén E, Kere J, Tapia-Páez I, Swoboda P. Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs. FASEB J 30: 3578-3587, 2016
Tervaniemi MH, Katayama S, Skoog T, Siitonen HA, Vuola J, Nuutila K, Sormunen R, Johnsson A, Linnarsson S, Suomela S, Kankuri E, Kere J, Elomaa O. NOD-like receptor signaling and inflammasome-related pathways are highlighted in psoriatic epidermis. Sci Rep 6: 22745, 2016
Wang J, Skoog T, Einarsdottir E, Kaartokallio T, Laivuori H, Grauers A, Gerdhem P, Hytönen M, Lohi H, Kere J, Jiao H. Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples. Sci Rep 6: 33256, 2016
Wang J, Vesterlund L, Kere J, Jiao H. Identification of Novel Transcribed Regions in Zebrafish (Danio rerio) Using RNA-Sequencing. PLoS One 11: e0160197, 2016
Originalpublikationer Anna-Elina Lehesjoki och Maija Wessman
de Kovel C, Brilstra EH, van Kempen M, van't Slot R, Nijman I, Afawi Z, De Jonghe P, Djémié T, Guerrini R, Hardies K, Helbig I, Hendrickx R, Kanaan M, Kramer U, Lehesjoki A-E, Lemke J, Marini C, Mei D, Møller R, Pendziwiat M, Stamberger H, Suls A, Weckhuysen S, EuroEPINOMICS RES Consortium, Koeleman BP. Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Mol Genet Genomic Med 4: 568-580, 2016
Djémié T, Weckhuysen S, von Spiczak S, Carvill GL, Jaehn J, Anttonen A-K, Brilstra E, Caglayan HS, de Kovel CGF, Depienne C, Gaily E, Gennaro E, Giraldez BG, Gormley P, Guerrero-López R, Guerrini R, Hämäläinen E, Hartmann C, Hernandez-Hernandez L, Hjalgrim H, Koeleman BP, Leguern E, Lehesjoki A-E, Lemke JR, Leu C, Marini C, McMahon JM, Mei D, Møller RS, Muhle H, Myers CT, Nava C, Serratosa JM, Sisodiya SM, Striano P, van Kempen MJA, Verbeek NE, Usluer S, Zara F, Palotie A, Mefford HC, Scheffer IE, Stephani U, De Jonghe P, Helbig I, Suls A, EuroEPINOMICS-RES Dravet working group. Pitfalls in genetic testing: the story of missed SCN1A mutations. Mol Genet Genomic Med 4: 457-464, 2016
Gaily E, Lommi M, Lapatto R, Lehesjoki A-E. Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study. Epilepsia 57: 1594-1601, 2016
Helbig KL, Hedrich UBS, Shinde DN, Krey I, Teichmann A-C, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu H-M, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, Karle KN, Synofzik M, Schöls L, Schüle R, Lehesjoki A-E, Helbig I, Lerche H, Lemke JR. A recurrent KCNA2 mutation causes hereditary spastic paraplegia and ataxia. Ann Neurol 80: 638-642, 2016
Kettunen KM, Karikoski R, Hämäläinen RH, Toivonen TT, Antonenkov VD, Kulesskaya N, Voikar V, Hölttä-Vuori M, Ikonen E, Sainio K, Jalanko A, Karlberg S, Karlberg N, Lipsanen-Nyman M, Toppari J, Jauhiainen M, Hiltunen JK, Jalanko H, Lehesjoki A-E. Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism. Biol Open 5: 584-595, 2016
Körber I, Katayama S, Einarsdottir E, Krjutškov K, Hakala P, Kere J, Lehesjoki A-E, Joensuu T. Gene-expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia. PLoS One 11: e0158195, 2016
Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium, Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA. Evaluation of presumably diseases causing SCN1A variants in a cohort of common epilepsy syndromes. PLoS One 11: e0150426, 2016
Muona M, Fukata Y, Anttonen A-K, Laari A, Palotie A, Pihko H, Lönnqvist T, Valanne L, Somer M, Fukata M, Lehesjoki A-E. Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy. Neurol Genet 2: e46, 2016
Muona M, Ishimura R, Laari A, Ichimura Y, Linnankivi T, Keski-Filppula R, Herva R, Rantala H, Paetau A, Pöyhönen M, Obata M, Uemura T, Karhu T, Bizen N, Takebayashi H, Anttonen A-K,14, Tanaka K, Palotie A, Waguri S, Lehesjoki A-E, Komatsu M. Biallelic variants in UBA5 link dysfunctional UFM1 ubiquitin-like modifier to severe infantile-onset encephalopathy. Am J Hum Genet 99: 683-694, 2016
Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Stefanie Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mikhail M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Wechuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S, EuroEPINOMICS-RES MAE working group, Lemke J, Héron D, Kluger G, Depienne C. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual deficiency and epilepsy. J Med Genet 53: 511-522, 2016
Mäkitie RE, Haanpää M, Valta H, Pekkinen M, Laine CM, Lehesjoki A-E, Schalin-Jäntti C, Mäkitie O. Skeletal characteristics of WNT1 osteoporosis in children and young adults. J Bone Mineral Res 31: 1734-1742, 2016
Nascimento FA, Aljaafari D, Muona M, Lehesjoki A-E, Berkovic S, Franceschetti S, Canafoglia L, Andrade D. Progressive Myoclonus Epilepsy phenotype in SACS gene mutations. Neurol Genet 2: e83, 2016
Okuneva O, Li Z, Körber I, Tegelberg S, Joensuu T, Tian L, Lehesjoki A-E. Brain inflammation is accompanied by peripheral inflammation in Cstb-/- mice, a model for progressive myoclonus epilepsy. J Neuroinflammation 13: 296, 2016
Schwarz N, Hahn A, Bast T, Müller S, Löffler H, Maljevic S, Gaily E, Prehl I, Biskup S, Joensuu T, Lehesjoki A-E, Neubauer BA, Lerche H, Hedrich UBS. Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. J Neurol 263: 334-343, 2016
Turunen JA, Markkinen S, Wilska R, Saarinen S, Raivio V, Täll M, Lehesjoki A-E, Kivelä TT. BAP1 germline mutations in Finnish patients with uveal melanoma. Ophthalmology 123: 1112-1117, 2016
Ylikallio E, Auranen M, Mahjneh I, Lamminen A, Kousi M, Träskelin A-L, Muurinen T, Löfberg M, Salmi T, Paetau A, Lehesjoki A-E, Piirilä P, Kiuru-Enari S. Decreased aerobic capacity in ANO5-muscular dystrophy. J Neuromuscul Dis 3: 475-485, 2016
Cajanus K, Holmström EJ, Wessman M, Anttila V, Kaunisto MA, Kalso E. Effect of endocannabinoid degradation on pain: role of FAAH polymorphisms in experimental and postoperative pain in women treated for breast cancer. Pain 157: 361-369, 2016
de Vries B, Anttila V, Freilinger T, Wessman M, Kaunisto MA, Kallela M, Artto V, Vijfhuizen LS, Göbel H, Dichgans M, Kubisch C, Ferrari MD, Palotie A, Terwindt GM, van den Maagdenberg AM; International Headache Genetics Consortium. Systematic re-evaluation of genes from candidate gene association studies in migraine using a large genome-wide association data set. Cephalalgia 36: 604-614, 2016
Gormley P, Anttila V, Winsvold BS, Palta P, Esko T, Pers TH,
Wessman M et al. Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Nat Genet 48: 856-866, 2016
Laurell K, Artto V, Bendtsen L, Hagen K, Häggström J, Linde M, Söderström L, Tronvik E, Wessman M, Zwart JA, Kallela M. Premonitory symptoms in migraine: A cross-sectional study in 2714 persons. Cephalalgia 36: 951-959, 2016
Zhao H, Eising E, de Vries B, Vijfhuizen LS; International Headache Genetics Consortium., Anttila V, Winsvold BS, Kurth T, Stefansson H, Kallela M, Malik R, Stam AH, Ikram MA, Ligthart L, Freilinger T, Alexander M, Müller-Myhsok B, Schreiber S, Meitinger T, Aromas A, Eriksson JG, Boomsma DI, van Duijn CM, Zwart JA, Quaye L, Kubisch C, Dichgans M, Wessman M, Stefansson K, Chasman DI, Palotie A, Martin NG, Montgomery GW, Ferrari MD, Terwindt GM, van den Maagdenberg AM, Nyholt DR. Gene-based pleiotropy across migraine with aura and migraine without aura patient groups. Cephalalgia 36: 648-57, 2016
Originalpublikationer Hannes Lohi
Donner J, Kaukonen M, Anderson H, Möller F, Kyöstilä K, Sankari S, Hytönen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One 11: e0161005, 2016
Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drögemüller C, Lohi H. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet 12: e1006037, 2016
Hytönen MK, Lohi H. Canine models of human rare disorders. Rare Dis 4: e1241362, 2016
Höglund K, Lequarré AS, Ljungvall I, Mc Entee K, Merveille AC, Wiberg M, Gouni V, Lundgren Willesen J, Hanås S, Wess G, Mejer Sørensen L, Tiret L, Kierczak M, Forsberg SK, Seppälä E, Lindblad-Toh K, Lohi H, Chetboul V, Fredholm M, Häggström J. Effect of Breed on Plasma Endothelin-1 Concentration, Plasma Renin Activity, and Serum Cortisol Concentration in Healthy Dogs. J Vet Intern Med 30: 566-573, 2016
Krjutškov K, Koel M, Roost AM, Katayama S, Einarsdottir E, Jouhilahti EM, Söderhäll C, Jaakma Ü, Plaas M, Vesterlund L, Lohi H, Salumets A, Kere J. Globin mRNA reduction for whole-blood transcriptome sequencing. Sci Rep 6: 31584, 2016
Niskanen AK, Kennedy LJ, Lohi H, Aspi J, Pyhäjärvi T. No evidence of prenatal diversifying selection at locus or supertype levels in the dog MHC class II loci. Canine Genet Epidemiol 3: 9, 2016
Pausch H, Venhoranta H, Wurmser C, Hakala K, Iso-Touru T, Sironen A, Vingborg RK, Lohi H, Söderquist L, Fries R, Andersson M. A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle. BMC Genet 17: 49, 2016
Puurunen J, Sulkama S, Tiira K, Araujo C, Lehtonen M, Hanhineva K, Lohi H. A non-targeted metabolite profiling pilot study suggests that tryptophan and lipid metabolisms are linked with ADHD-like behaviours in dogs. Behav Brain Funct 12: 27, 2016
Puurunen J, Tiira K, Lehtonen M, Hanhineva K, Lohi H. Non-targeted metabolite profiling reveals changes in oxidative stress, tryptophan and lipid metabolisms in fearful dog Behav Brain Funct 12: 7, 2016
van Steenbeek FG, Hytönen MK, Leegwater PA, Lohi H. The canine era: the rise of a biomedical model. Anim Genet 47: 519-527, 2016
Vapalahti K, Virtala AM, Joensuu TA, Tiira K, Tähtinen J, Lohi H. Health and Behavioral Survey of over 8000 Finnish Cats. Front Vet Sci 3: 70, 2016
Wang J, Skoog T, Einarsdottir E, Kaartokallio T, Laivuori H, Grauers A, Gerdhem P, Hytönen M, Lohi H, Kere J, Jiao H. Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples. Sci Rep 6: 33256, 2016
Wang GD, Zhai W, Yang HC, Wang L, Zhong L, Liu YH, Fan RX, Yin TT, Zhu CL, Poyarkov AD, Irwin DM, Hytönen MK, Lohi H, Wu CI, Savolainen P, Zhang YP. Out of southern East Asia: the natural history of domestic dogs across the world. Cell Res 26: 21-33, 2016
Wu W, Patel A, Kyöstilä K, Lohi H, Mladkova N, Kiryluk K, Sun X, Lefkowitch JH, Worman HJ, Gharavi AG. Genome-wide association study in mice identifies loci affecting liver-related phenotypes including Sel1l influencing serum bile acids. Hepatology 63: 1943-1956, 2016
Originalpublikationer Outi Mäkitie
Costantini A, Mäkitie O. Value of rare low bone mass diseases for osteoporosis genetics. Bonekey Rep 5: 773, 2016 (Review)
Holmlund-Suila E, Pekkinen M, Ivaska KK, Andersson S, Mäkitie O, Viljakainen H. Obese young adults exhibit lower total and lower free serum 25-hydroxycholecalciferol in a randomized vitamin D intervention. Clin Endocrinol (Oxf) 85: 378-385, 2016
Mäkitie RE, Haanpää M, Valta H, Pekkinen M, Laine CM, Lehesjoki AE, Schalin-Jäntti C, Mäkitie O. Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults. J Bone Miner Res 31: 1734-1742, 2016
Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, Berberoğlu M, Kämpe A, Kıykım E, Grigelioniene G, Tüysüz B, Mäkitie O. Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum. J Bone Miner Res 31: 1577-1585, 2016
Tenhola S, Voutilainen R, Reyes M, Toiviainen-Salo S, Jüppner H, Mäkitie O. Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation. Eur J Endocrinol 175: 211-218, 2016
Originalpublikationer Bjarne Udd
Alvarez VC, Penttilä ST, Salutto VL, Udd B, Mazia CG. Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation. Neurol Genet 2: e109, 2016
Evilä A, Arumilli M, Udd B, Hackman P. Targeted next-generation sequencing assay for detection of mutations in primary myopathies. Neuromuscul Disord 26: 7-15, 2016
Freyermuth F, Rau F, Kokunai Y, Linke T, Sellier C, Nakamori M, Kino Y, Arandel L, Jollet A, Thibault C, Philipps M, Vicaire S, Jost B, Udd B, Day JW, Duboc D, Wahbi K, Matsumura T, Fujimura H, Mochizuki H, Deryckere F, Kimura T, Nukina N, Ishiura S, Lacroix V, Campan-Fournier A, Navratil V, Chautard E, Auboeuf D, Horie M, Imoto K, Lee KY, Swanson MS, Lopez de Munain A, Inada S, Itoh H, Nakazawa K, Ashihara T, Wang E, Zimmer T, Furling D, Takahashi MP, Charlet-Berguerand N. Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy. Nat Commun 7: 11067, 2016
Ghaoui R, Palmio J, Brewer J, Lek M, Needham M, Evilä A, Hackman P, Jonson PH, Penttilä S, Vihola A, Huovinen S, Lindfors M, Davis RL, Waddell L, Kaur S, Yiannikas C, North K, Clarke N, MacArthur DG, Sue CM, Udd B. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology 86: 391-398, 2016
Jokela M, Huovinen S, Raheem O, Lindfors M, Palmio J, Penttilä S, Udd B. Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders. PLoS One 11: e0151376, 2016
Palmio J, Evilä A, Bashir A, Norwood F, Viitaniemi K, Vihola A, Huovinen S, Straub V, Hackman P, Hirano M, Bushby K, Udd B. Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family. J Neurol Neurosurg Psychiatry 87: 448-450, 2016
Palmio J, Kärppä M, Baumann P, Penttilä S, Moilanen J, Udd B. Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family. Clin Case Rep 4: 1151-1156, 2016
Palmio J, Udd B. Myofibrillar and distal myopathies. Rev Neurol (Paris) 172: 587-593, 2016 (Review)
Papadimas GK, Evilä A, Papadopoulos C, Kararizou E, Manta P, Udd B. GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology. J Neuromuscul Dis 3: 283-288, 2016
Rudolf G, Suominen T, Penttilä S, Hackman P, Evilä A, Lannes B, Echaniz-Laguna A, Bierry G, Tranchant C, Udd B. Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. J Neuromuscul Dis 3: 275-281, 2016
Sandell S, Huovinen S, Palmio J, Raheem O, Lindfors M, Zhao F, Haapasalo H, Udd B. Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D. Acta Neuropathol Commun 4: 9, 2016
Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sanpaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. Neurology 87: 71-76, 2016
Savarese M, Sarparanta J, Vihola A, Udd B, Hackman P. Increasing Role of Titin Mutations in Neuromuscular Disorders. J Neuromuscul Dis 3: 293-308, 2016
Tasca G, Fattori F, Monforte M, Hedberg-Oldfors C, Sabatelli M, Udd B, Boldrini R, Bertini E, Ricci E, Oldfors A. Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods. J Neurol 263: 2133-2135, 2016
Originalpublikationer Carina Wallgren-Pettersson och Katarina Pelin
Kiiski K, Lehtokari VL, Löytynoja A, Ahlstén L, Laitila J, Wallgren-Pettersson C, Pelin K. A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. Eur J Hum Genet 24: 574-580, 2016
Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA. Mutation-specific effects on thin filament length in thin filament myopathy. Ann Neurol 79: 959-969, 2016