"Sihtfinantseerimine" projekt SF0180004s11
SF0180004s11 " Lapse arengut, krooniliste haiguste patogeneesi, diagnoosimist ja ravi kaugtulemusi määravad tegurid lastel: uued võimalused nende mõjutamiseks ja raviks. (1.01.2011−31.12.2016)", Vallo Tillmann, Tartu Ülikool, Tartu Ülikool, Meditsiiniteaduste valdkond, Kliinilise meditsiini instituut.
SF0180004s11
Lapse arengut, krooniliste haiguste patogeneesi, diagnoosimist ja ravi kaugtulemusi määravad tegurid lastel: uued võimalused nende mõjutamiseks ja raviks.
Factors that influence child’s development, pathogenesis and diagnosis of childhood chronic illnesses and their long-term outcome: further opportunities for their improvement and treatment.
1.01.2011
31.12.2016
Sihtfinantseerimine
ValdkondAlamvaldkondCERCS erialaFrascati Manual’i erialaProtsent
3. Terviseuuringud3.7. Kliiniline meditsiinB660 Pediaatria 3.2. Kliiniline meditsiin (anestesioloogia, pediaatria, sünnitusabi ja günekoloogia, sisehaigused, kirurgia, stomatoloogia, neuroloogia, psühhiaatria, radioloogia, terapeutika, otorinolarüngoloogia, oftalmoloogia)70,0
3. Terviseuuringud3.7. Kliiniline meditsiinB640 Neuroloogia, neuropsühholoogia, neurofüsioloogia 3.2. Kliiniline meditsiin (anestesioloogia, pediaatria, sünnitusabi ja günekoloogia, sisehaigused, kirurgia, stomatoloogia, neuroloogia, psühhiaatria, radioloogia, terapeutika, otorinolarüngoloogia, oftalmoloogia)20,0
3. Terviseuuringud3.11. Terviseuuringutega seotud uuringud, näiteks biokeemia, geneetika, mikrobioloogia, biotehnoloogia, molekulaarbioloogia, rakubioloogia, biofüüsika ja bioinformaatikaB790 Kliiniline geneetika3.1. Biomeditsiin (anatoomia, tsütoloogia, füsioloogia, geneetika, farmaatsia, farmakoloogia, kliiniline keemia, kliiniline mikrobioloogia, patoloogia)10,0
AsutusRollPeriood
Tartu Ülikoolkoordinaator01.01.2011−31.12.2015
Tartu Ülikool, Meditsiiniteaduste valdkond, Kliinilise meditsiini instituutkoordinaator01.01.2016−31.12.2016
PerioodSumma
01.01.2011−31.12.2011138 390,00 EUR
01.01.2012−31.12.2012138 390,00 EUR
01.01.2013−31.12.2013138 390,00 EUR
01.01.2014−31.12.2014138 390,00 EUR
01.01.2015−31.12.2015138 390,00 EUR
01.01.2016−31.12.2016138 390,00 EUR
830 340,00 EUR
830340,00

Kroonilised haigused lapseeas mõjutavad lapse arengut, tema kongitiivseid oskusi, akadeemilist võimekust ja pikemas perpektiivis - tervet järgnevat elu ning omab olulist mõju perekonnale kui ka ühiskonnale. Antud teema on jätkuks lõppevale teemale SF0182695s05, mille käigus publitseeriti 84 CC artiklit, kaitsti 13 doktorikraadi. Uus teema hõlmab 8 alateemat: 1)Riskivastsündinute varane ja hilistulem ning seda mõjutavad faktorid; 2)Intra- ja postnataalne kasv lastel kõrgenenud geneetilise riskiga 1.tüüpi diabeedi tekkeks; 3)"Tsöliaakia ja atoopiline dermatiidi koosesinemine; 4)Juveniilse idiopaatilise artriidi prognoosi määravad tegurid; 5)Atoopilise sensibiliseerumise ja allergiahaiguste kujunemine Eesti lastel; 6)Epilepsia esinemissagedus Eestis, patogeneetilised mehhanismid ja kaugtulemused; 7)Kognitiivne profiil ja sotsiaalne kompetents närvisüsteemi kahjustusega lastel; 8)Kaasasündinud düsmorfsete tunnuste, kasvu- ja arenguhäirete uurimine haruldaste haiguste diagnoosimisel.
Chronic diseases have a great influence to child’s development, cognitive functions, school performance and in long-term, to the whole life from childhood to adulthood with big impact to family and society. This application is continuation of the previous grant SF0182695s05 (84CC papers,13 PhD degrees ). This grant has 8 topics: 1)Outcome of very preterm infants in Estonia; 2)Intrauterine and postnatal growth in children with HLA-conferred risk to type 1 diabetes; 3)Coeliac disease and atopic dermatitis coexistence; 4)Predictive factors for childhood juvenile idiopathic arthritis outcome; 5)Development of atopic sensitization and allergic diseases in Estonian children: risk and preventive factors; 6)Incidence, pathogenesis and long-term outcome of childhood epilepsy in Estonia; 7)Cognitive and socio-behavioral profile in children with central nervous system disorders; 8) Congenital dysmorphic features, growth and developmental abnormalities in the diagnosis of childhood rare diseases.

Vastutav täitja (1)

IsikKraadTöökoht ja ametCVOsalemise periood
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016

Põhitäitjad (24)

IsikKraadTöökoht ja ametCVOsalemise periood
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−28.02.2013
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadTartu Ülikool, Arstiteaduskond, Lastekliinik, lastehaiguste lektor (0,50) Võru Haigla pediaater ja osakonnajuhataja 1978-1989, TÜ lastekliiniku assistent 1990-1992, doktorant 1992-1996; arstiteaduskonna dotsent 1998 ja SA TÜ Kliinikumi lastekliiniku osakonnajuhataja ja Tartu Ülikooli lastekliiniku dotsent alates 1999.a. Muu ...EST / ENG01.01.2011−31.12.2015
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadTartu Ülikool, Lastehaiguste õppetooli dotsent 0,2 Tartu Ülikool, Meditsiiniteaduste valdkond, Bio- ja siirdemeditsiini instituut, Tartu Ülikool, Mikrobioloogia Instituut; alates 01.01.2016 TÜ BIo- ja siirdemeditsiini instituut, mikrobioloogia osakond, vanemteadur (0,80) SA Tartu Ülikooli Kliinikum, vanemarst õppejõud (0,75) SA Tartu Kiirabi, lastereanimobiili arst (0,20)EST / ENG01.01.2011−31.12.2015
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2014
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2014
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2011
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2014
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2011
FirstName_945934 LastName_945934magistrikraad (teaduskraad)EST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2011
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2011
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadSA Tallinna Lastehaigla alates 1987 SA Tallinna Lastehaigla SA Tallinna Lastehaigla, osakonna juhataja (1,00)EST / ENG01.01.2016−31.12.2016
FirstName_945934 LastName_945934doktorikraadSA Tartu Ülikooli Kliinikum, Tartu Ülikooli Kliinikumi Lastekliinik, arst-õppejõud neuroloogia erialal (1,00)EST / ENG01.01.2016−31.12.2016

Täitjad (18)

IsikKraadTöökoht ja ametCVOsalemise periood
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadSA Tallinna Lastehaigla alates 1987 SA Tallinna Lastehaigla SA Tallinna Lastehaigla, osakonna juhataja (1,00)EST / ENG01.01.2011−31.12.2015
FirstName_945934 LastName_945934EST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934EST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934EST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934EST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadSA Tartu Ülikooli Kliinikum, Tartu Ülikooli Kliinikumi Lastekliinik, arst-õppejõud neuroloogia erialal (1,00)EST / ENG01.01.2011−31.12.2015
FirstName_945934 LastName_945934magistrikraad (teaduskraad)EST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934EST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934EST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934EST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934doktorikraadEST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934EST / ENG01.01.2011−31.12.2016
FirstName_945934 LastName_945934magistrikraadEST / ENG01.01.2016−31.12.2016
FirstName_945934 LastName_945934SA Tartu Ülikooli Kliinikum, Tartu Ülikooli Kliinikumi Lastekliinik, arst-resident (1,00)EST / ENG01.01.2016−31.12.2016
Publikatsioonid
Publikatsioonid
Vahter, L; Braschinsky, M; Haldre, S; Kool, P; Talvik, T; Gross-Paju, K. (2012). The prevalence of cognitive dysfunction in the estonian population of hereditary spastic paraplegia. World Journal of Neuroscience, 2, 91−97.10.4236/wjns.2012.22013.
Kolk, A.; Ennok, M.; Laugesaar, R.; Kaldoja, M.-L. ; Talvik, T. (2011). Long-term cognitive outcome after pediatric stroke. Pediatric Neurology, 44, 101−109.10.1016/j.pediatrneurol.2010.08.012.
Pajusalu, Sander; Žordania, Riina; Jalas, Tiiu; Paju, Rain; Õunap, Katrin; Reimand, Tiia (2013). Pärilik pika QT sündroom. Eesti Arst, 92 (1), 28−33.
Joost, K.; Rodenburg, R.J.; Piirsoo, A.; van den Heuvel, L.; Žordania, R.; Põder, H.; Talvik, I.; Kilk, K.; Soomets, U.; Õunap, K. (2012). A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children. Molecular Syndromology, 3 (3), 113−119.000341375.
Õunap, K.; Puusepp-Benazzouz, H.; Peters, M.; Vaher, U.; Rein, R:; Proos, A:; Field, M.; Reimand, T. (2012). A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability. European Journal of Medical Genetics, 55 (3), 178−184.10.1016/j.ejmg.2012.01.004.
Žilina, Olga; Reimand, Tiia; Zjablovskaja, Polina; Männik, Katrin; Männamaa, Mairi; Traat, Aili; Puusepp-Benazzouz, Helen; Kurg, Ants; Õunap, Katrin (2012). Maternally and Paternally Inherited Deletion of 7q31 Involving the FOXP2 Gene in Two Families. American Journal of Medical Genetics Part A, 158A (1), 254−256.10.1002/ajmg.a.34378.
Joost, K.; Õunap, K.; Žordania, R.; Uudelepp, M.-L.; Olsen, R.K.; Kall, K.; Kilk, K.; Soomets, U.; Kahre, T. (2012). Prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Estonia. JIMD Reports, 2, 79−85.
Krabbi, K.; Joost, K.; Zordania, R.; Talvik, I.; Rein, R.; Huijmans, J. G. M.; Verheijen, F. V.; Õunap, K (2012). The live-birth prevalence of mucopolysaccharidoses in Estonia. Genetic Testing and Molecular Biomarkers, ? [ilmumas].
Männik, K; Parkel, S; Palta, P; Zilina, O; Puusepp, H; Esko, T; Mägi, R; Nõukas, M; Veidenberg, A; Nelis, M; Metspalu, A; Remm, M; Ounap, K; Kurg, A. (2011). A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia. European Journal of Medical Genetics, 54 (2), 136−143.
Krabbi, K.; Uudelepp, M.-L.; Joost, K.; Zordania, R.; Õunap, K. (2011). Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control. Molecular Genetics and Metabolism, 103 (3), 249−253.10.1016/j.ymgme.2011.03.023.
Jurecka, A; Piotrowska, E; Cimbalistiene, L; Gusina, N; Sobczynska, A; Czartoryska, B; Czerska, K; Õunap, K; Wegrzyn, G; Tylki-Szymanska, A. (2011). Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. Molecular Genetics and Metabolism, 105 (1), 237−243.10.1016/j.ymgme.2011.11.003.
Muru, K.; Kalev, I.;Teek, R.; Sõnajalg, M.; Kuuse, K.; Reimand, T.; Õunap, K. (2011). A boy with Holt-Oram syndrome caused by novel mutation c.1304delT in the TBX5 gene. Molecular Syndromology, 1 (6), 307−310.10.1159/000330109.
Joost, K.; Tammur, P.; Teek, R.; Žilina, O.; Peters, M.; Kreile, M.; Lace, B.; Žordania, R.; Talvik, I.; Õunap, K. (2011). Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency. Molecular Syndromology, 1 (6), 311−315.10.1159/000331323.
Peet, A.; Kool, P.; Ilonen, J.; Knip, M.; Tillmann, V.; DIABIMMUNE Study, Group. (2012). Birth weight in newborn infants with different diabetes-associated HLA genotypes in three neighbouring countries: Finland, Estonia and Russian Karelia. Diabetes/Metabolism Research and Reviews, 28 (5), 455−461.
Utsal, L.; Tillmann, V.; Zilmer, M.; Mäestu, J.; Purge, P.; Jürimäe, J.; Saar, M.; Lätt, E.; Maasalu, K.; Jürimäe, T. (2012). Elevated Serum IL-6, IL-8, MCP-1, CRP, and IFN-γ Levels in 10- to 11-Year-Old Boys with Increased BMI. Hormone Research in Paediatrics, 78 (1), 31−39.
Nucci, AM.; Becker, DJ.; Virtanen, SM.; Cuthbertson, D.; Softness, B.; Huot, C.; Wasikowa, R.; Dosch, HM.; TRIGR Study Goup, Collaborators (590).; Tillmann, V.; Akerblom, HK.; Knip, M. (2012). Growth differences between North American and European children at risk for type 1 diabetes. Pediatric Diabetes, 13 (5), 425−431.10.1111/j.1399-5448.2011.00840.x.
Pulst, Kerli; Arbo, Triin; Kahre, Tiina; Peet, Aleksander; Tillmann, Vallo (2012). MODY2 caused by a novel mutation of GCK gene. Journal of Pediatric Endocrinology and Metabolism, 25, 801−803.
Westermark, K.; Holm, B; Söderholm, M.; Llinares-Garcia, J.; Rivière, F.; Tillmann, V.; Saano, V.; Belorgey, C. (2011). European regulation on orphan medicinal products: 10 years of experience and future perspectives. Nature Reviews Drug Discovery, 10 (5), 341−349.
Kõks, S.; Soomets, U.; Plaas, M.; Terasmaa, A.; Noormets, K.; Tillmann, V.; Vasar, E.; Fernandes, C.; Schalkwyk, LC. (2011). Hypothalamic gene expression profile indicates a reduction in G protein signaling in the Wfs1 mutant mice. Physiological genomics, 43, 1351−1358.10.1152/physiolgenomics.00117.2011.
Hunt, KA.; Smyth, DJ.; Balschun, T.; Ban, M.; Mistry,V., Ahmad, T., Type 1 Diabetes Genetics Consortium; Collaborators, (473).; Tilmann, V.; Todd, JA.; van Heel, DA. (2012). Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1), 3−5.10.1038/ng.1037.
Noormets, K.; Kõks, S.; Muldmaa, M.; Mauring, L.; Vasar, E.; Tillmann, V. (2011). Sex Differences in the Development of Diabetes in Mice with Deleted Wolframin (Wfs1) Gene. Experimental and Clinical Endocrinology of Diabetes, 119 (5), 271−275.
Tiigimäe-Saar, J.; Leibur, E.; Kolk, A.; Talvik, I.; Tamme, T. (2012). Use of Botulinum neurotoxin A in uncontrolled salivation in children with cerebral palsy. A pilot study. International Journal of Oral and Maxillofacial Surgery, x [ilmumas].
Farmer, A.; Aymé, S.; de Heredia, ML.; Maffei, P.; McCafferty, S M.; Ynarski, W.; Nunes, V.; Parkinson, K.; Paquis-Flucklinger, V.; Rohayem, J.; Sinnott, R.; Tillman, V.; Tranebjærg, L.; Barrett, TG. (2013). EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome. BMC Pediatrics, 13, 130.10.1186/1471-2431-13-130.
Toome, L.; Varendi, H.; Männamaa, M.; Vals, MA.; Tänavsuu, T.; Kolk, A. (2013). Follow-up study of 2-year-olds born at very low gestational age in Estonia. Acta Paediatrica, 102 (3), 300−307.10.1111/apa.12091.
Uibo, R.; Panarina, M.; Teesalu, K.; Talja, I.; Sepp, E.; Utt, M.; Mikelsaar, M.; Heilman, K.; Uibo, O.; Vorobjova, T. (2011). Celiac disease in patients with type 1 diabetes: a condition with distinct changes in intestinal immunity? Cellular and Molecular Immunology, 8 (2), 150−156.
Vorobjova, T.; Uibo, O.; Ojakivi, I.; Teesalu, K.; Panarina, M.; Heilman, K.; Uibo, R. (2011). Lower expression of tight junction protein 1 gene and increased FOXP3 expression in the small bowel mucosa in coeliac disease and associated type 1 diabetes mellitus. International Archives of Allergy and Immunology, 156 (4), 451−461.10.1159/000324456.
Toome, Liis; Ringmets, Inge; Andresson, Pille; Ilmoja, Mari-Liis; Saik, Pille;Varendi, Heili. (2012). Changes in care and short-term outcome for very preterm infants in Estonia. Acta Paediatrica, 4, 390−396.
Lass, J.; Naelapää, K.; Shah, U.; Käär, R.; Varendi, H.; Turner, MA.; Lutsar, I. (2012). Hospitalised neonates in Estonia commonly receive potentially harmful excipients. BMC Pediatrics, 12, 136.10.1186/1471-2431-12-136.
Kaldoja, Mari-Liis; Kolk, Anneli (2012). Social-emotional behaviour in infants and toddlers with mild traumatic brain injury. Brain Injury, 26, 1005−1013.10.3109/02699052.2012.660516.
Suits, K., Tulviste, T., Ong, R., Tulviste, J., Kolk, A. (2011). Differences Between Humor Comprehension and Appreciation in Healthy Children and Children with Epilepsy. Journal of Child Neurology, 27 (3), 310−318.10.1177/0883073811419259.
Tõnisson, M.; Tillmann, V.; Kuudeberg, A.; Lepik, D.; Väli, M. (2013). Acute alcohol intoxication characteristics in children. Alcohol & Alcoholism, 48 (4), 390−5.10.1093/alcalc/agt036.
Utsal, L.; Tillmann, V.; Zilmer, M.; Mäestu, J.; Purge, P.; Saar, M.; Lätt, E.; Maasalu, K.; Jürimäe, T.; Jürimäe, J. (2013). Negative correlation between serum IL-6 level and cardiorespiratory fitness in 10- to 11-year-old boys with increased BMI. Journal of Pediatric Endocrinology and Metabolism, 26, 503−508.10.1515/jpem-2012-0338.
Žilina, O.; Reimand, T.; Tammur, P.; Tillmann, V.; Kurg, A.; Õunap, K. (2013). Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature. European Journal of Medical Genetics, 56 (4), 202−206.10.1016/j.ejmg.2013.01.008.
Parm, AL; Jürimäe, J; Saar, M; Pärna, K; Tillmann, V; Maasalu, K; Neissaar, I; Jürimäe, T (2012). Bone mineralization in rhythmic gymnasts before puberty: no longitudinal associations with adipocytokine and ghrelin levels. Hormone Research in Paediatrics, 77 (6), 369−375.10.1159/000339002.
van de Kamp, J.M.; Betsalel, O.T.; Mercimek-Mahmutoglu, S.; Abulhoul, L.; Grünewald, S.; Anselm, I.; Azzouz, H.; Bratkovic, D.; de Brouwer, A.; Hamel, B.; Kleefstra, T.; Yntema, H.; Campistol, J.; Vilaseca, M.A.; Cheillan, D.; D'Hooghe, M.; Diogo, L.; Garcia, P.; Valongo, C.; Fonseca, M. ... Salomons, G.S. (2013). Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. Journal of Medical Genetics, 50 (7), 463−472.10.1136/jmedgenet-2013-101658.
Betsalel, O.T.; Pop, A.; Rosenberg, E.H.; Fernandez-Ojeda, M.; van Esch, H.; Nassogne, M.C.; Sznajer, Y.; Mercimek-Mahmutoglu, S.; Ounap, K.; Cheillan, D.; Lion-Francois, L.; Pitelet, G.; Munnich, A.; Quijano-Roy, S.; Valayannopoulos, V.; Burkhard, S.; Gebhardt, B.R.; Moog, U.; Muecke, J.; Poggenburg, I. ... Salomons, G.S. (2012). Detection of variants in SLC6A8 and functional analysis of unclassified missense variants. Molecular Genetics and Metabolism, 105 (4), 596−601.
Anderson, B.H.; Kasher, P.R.; Mayer, J.; Szynkiewicz, M.; Jenkinson, E.M.; Bhaskar, S.S.; Urquhart, J.E.; Daly, S.B.; Dickerson, J.E.; O'Sullivan, J.; Leibundgut, E.O.; Muter, J.; Abdel-Salem, G.M.; Babul-Hirji, R.; Baxter, P.; Berger, A.; Bonafé, L.; Brunstom-Hernandez, J.E.; Buckard, J.A.; Chitayat, D. ... Crow, Y.J. (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature Genetics, 44 (3), 338−342.10.1038/ng.1084.
Suomalainen, A.; Elo, J.M.; Pietiläinen, K.H.; Hakonen, A.H.; Sevastianova, K.; Korpela, M.; Isohanni, P.; Marjavaara, S.K.; Tyni, T.; Kiuru-Enari, S.; Pihko, H.; Darin, N.; Ounap, K.; Kluijtmans, L.A.; Paetau, A.; Buzkova, J.; Bindoff, L.A.; Annunen-Rasila, J.; Uusimaa, J.; Rissanen, A. ... Tyynismaa, H. (2011). FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurology, 10 (9), 806−818.
Lemke, JR.; Lal, D.; Reinthaler, EM.; Steiner, I.; Nothnagel, M.; Alber, M.; Geider, K.; Laube, B.; Schwake, M.; Finsterwalder, K.; Franke, A.; Schilhabel, M.; Jähn, JA.; Muhle, H.; Boor, R.; Van Paesschen, W.; Caraballo, R.; Fejerman, N.; Weckhuysen, S.; De Jonghe, P. ... Wohlrab, G. et al (2013). Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet, 45 (9), 1067−1072.10.1038/ng.2728.
Veri, K; Uibo, O; Talvik, T; Talvik, I; Metsküla, K; Napa, A; Vaher, U; Õiglane-Šlik, E; Rein, R; Kolk, A; Traat, A; Uibo, R. (2013). Newly-diagnosed pediatric epilepsy is associated with elevated autoantibodies to glutamic acid decarboxylase but not cardiolipin. Epilepsy Research, 105, 86−91.10.1016/j.eplepsyres.2013.02.009.
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