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Items: 1 to 50 of 76

1.

Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.

Buzkova J, Nikkanen J, Ahola S, Hakonen AH, Sevastianova K, Hovinen T, Yki-Järvinen H, Pietiläinen KH, Lönnqvist T, Velagapudi V, Carroll CJ, Suomalainen A.

EMBO Mol Med. 2018 Dec;10(12). pii: e9091. doi: 10.15252/emmm.201809091.

2.

Evaluation of SEPs in asphyxiated newborns using a 4-electrode aEEG brain monitoring set-up.

Nevalainen P, Marchi V, Metsäranta M, Lönnqvist T, Vanhatalo S, Lauronen L.

Clin Neurophysiol Pract. 2018 Jun 30;3:122-126. doi: 10.1016/j.cnp.2018.06.003. eCollection 2018.

3.

Global and Widespread Local White Matter Abnormalities in Juvenile Neuronal Ceroid Lipofuscinosis.

Roine U, Roine TJ, Hakkarainen A, Tokola A, Balk MH, Mannerkoski M, Åberg LE, Lönnqvist T, Autti T.

AJNR Am J Neuroradiol. 2018 Jul;39(7):1349-1354. doi: 10.3174/ajnr.A5687. Epub 2018 May 31.

PMID:
29853519
4.

Infantile-Onset Spinocerebellar Ataxia.

Lönnqvist T.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2009 Jan 27 [updated 2018 Apr 19].

5.

The Burden of Congenital Cytomegalovirus Infection: A Prospective Cohort Study of 20 000 Infants in Finland.

Puhakka L, Lappalainen M, Lönnqvist T, Niemensivu R, Lindahl P, Nieminen T, Seuri R, Nupponen I, Pati S, Boppana S, Saxen H.

J Pediatric Infect Dis Soc. 2018 Mar 15. doi: 10.1093/jpids/piy027. [Epub ahead of print]

PMID:
29554325
6.

Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant'.

Isohanni P, Carroll CJ, Jackson CB, Pohjanpelto M, Lönnqvist T, Suomalainen A.

Neurogenetics. 2018 May;19(2):133-134. doi: 10.1007/s10048-018-0542-z. Epub 2018 Feb 26. No abstract available.

PMID:
29480378
7.

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.

Isohanni P, Carroll CJ, Jackson CB, Pohjanpelto M, Lönnqvist T, Suomalainen A.

Neurogenetics. 2018 Jan;19(1):49-53. doi: 10.1007/s10048-018-0537-9. Epub 2018 Jan 19.

PMID:
29350304
8.

Posterior Reversible Encephalopathy Syndrome: Risk Factors and Impact on the Outcome in Children With Acute Lymphoblastic Leukemia Treated With Nordic Protocols.

Banerjee JS, Heyman M, Palomäki M, Lähteenmäki P, Arola M, Riikonen PV, Möttönen MI, Lönnqvist T, Taskinen MH, Harila-Saari AH.

J Pediatr Hematol Oncol. 2018 Jan;40(1):e13-e18. doi: 10.1097/MPH.0000000000001009.

PMID:
29200159
9.

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

Sofou K, de Coo IFM, Ostergaard E, Isohanni P, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, Lönnqvist T, Bindoff LA, Tulinius M, Darin N.

J Med Genet. 2018 Jan;55(1):21-27. doi: 10.1136/jmedgenet-2017-104891. Epub 2017 Nov 3.

PMID:
29101127
10.

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lönnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM.

Am J Hum Genet. 2017 Nov 2;101(5):856-865. doi: 10.1016/j.ajhg.2017.09.020.

11.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D.

J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2.

12.

Cerebellar mutism syndrome in children with brain tumours of the posterior fossa.

Wibroe M, Cappelen J, Castor C, Clausen N, Grillner P, Gudrunardottir T, Gupta R, Gustavsson B, Heyman M, Holm S, Karppinen A, Klausen C, Lönnqvist T, Mathiasen R, Nilsson P, Nysom K, Persson K, Rask O, Schmiegelow K, Sehested A, Thomassen H, Tonning-Olsson I, Zetterqvist B, Juhler M.

BMC Cancer. 2017 Jun 21;17(1):439. doi: 10.1186/s12885-017-3416-0.

13.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H.

Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138.

PMID:
28633435
14.

Evoked potentials recorded during routine EEG predict outcome after perinatal asphyxia.

Nevalainen P, Marchi V, Metsäranta M, Lönnqvist T, Toiviainen-Salo S, Vanhatalo S, Lauronen L.

Clin Neurophysiol. 2017 Jul;128(7):1337-1343. doi: 10.1016/j.clinph.2017.04.025. Epub 2017 May 11.

PMID:
28570867
15.

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE.

Brain. 2017 May 1;140(5):1267-1279. doi: 10.1093/brain/awx040.

PMID:
28335020
16.

Neonatal somatosensory evoked potentials persist during hypothermia.

Nevalainen P, Lauronen L, Metsäranta M, Lönnqvist T, Ahtola E, Vanhatalo S.

Acta Paediatr. 2017 Jun;106(6):912-917. doi: 10.1111/apa.13813. Epub 2017 Apr 5.

PMID:
28258592
17.

Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.

Matilainen S, Isohanni P, Euro L, Lönnqvist T, Pihko H, Kivelä T, Knuutila S, Suomalainen A.

Eur J Hum Genet. 2017 Feb;25(3):393. doi: 10.1038/ejhg.2016.166. No abstract available.

18.

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.

Cooper HM, Yang Y, Ylikallio E, Khairullin R, Woldegebriel R, Lin KL, Euro L, Palin E, Wolf A, Trokovic R, Isohanni P, Kaakkola S, Auranen M, Lönnqvist T, Wanrooij S, Tyynismaa H.

Hum Mol Genet. 2017 Apr 15;26(8):1432-1443. doi: 10.1093/hmg/ddx042.

19.

Primary versus non-primary maternal cytomegalovirus infection as a cause of symptomatic congenital infection - register-based study from Finland.

Puhakka L, Renko M, Helminen M, Peltola V, Heiskanen-Kosma T, Lappalainen M, Surcel HM, Lönnqvist T, Saxen H.

Infect Dis (Lond). 2017 Jun;49(6):445-453. doi: 10.1080/23744235.2017.1279344. Epub 2017 Jan 24.

PMID:
28116961
20.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T.

Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18.

21.

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.

Muona M, Fukata Y, Anttonen AK, Laari A, Palotie A, Pihko H, Lönnqvist T, Valanne L, Somer M, Fukata M, Lehesjoki AE.

Neurol Genet. 2016 Jan 21;2(1):e46. doi: 10.1212/NXG.0000000000000046. eCollection 2016 Feb.

22.

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism.

Nikkanen J, Forsström S, Euro L, Paetau I, Kohnz RA, Wang L, Chilov D, Viinamäki J, Roivainen A, Marjamäki P, Liljenbäck H, Ahola S, Buzkova J, Terzioglu M, Khan NA, Pirnes-Karhu S, Paetau A, Lönnqvist T, Sajantila A, Isohanni P, Tyynismaa H, Nomura DK, Battersby BJ, Velagapudi V, Carroll CJ, Suomalainen A.

Cell Metab. 2016 Apr 12;23(4):635-48. doi: 10.1016/j.cmet.2016.01.019. Epub 2016 Feb 25.

23.

Metronomic therapy can increase quality of life during paediatric palliative cancer care, but careful patient selection is essential.

Porkholm M, Toiviainen-Salo S, Seuri R, Lönnqvist T, Vepsäläinen K, Saarinen-Pihkala UM, Pentikäinen V, Kivivuori SM.

Acta Paediatr. 2016 Aug;105(8):946-51. doi: 10.1111/apa.13338. Epub 2016 Feb 18.

PMID:
26801815
24.

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

Anttonen AK, Hilander T, Linnankivi T, Isohanni P, French RL, Liu Y, Simonović M, Söll D, Somer M, Muth-Pawlak D, Corthals GL, Laari A, Ylikallio E, Lähde M, Valanne L, Lönnqvist T, Pihko H, Paetau A, Lehesjoki AE, Suomalainen A, Tyynismaa H.

Neurology. 2015 Jul 28;85(4):306-15. doi: 10.1212/WNL.0000000000001787. Epub 2015 Jun 26.

25.

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.

Ylikallio E, Kim D, Isohanni P, Auranen M, Kim E, Lönnqvist T, Tyynismaa H.

Eur J Hum Genet. 2015 Oct;23(10):1427-30. doi: 10.1038/ejhg.2014.297. Epub 2015 Jan 14.

26.

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.

Ahola S, Isohanni P, Euro L, Brilhante V, Palotie A, Pihko H, Lönnqvist T, Lehtonen T, Laine J, Tyynismaa H, Suomalainen A.

Neurology. 2014 Aug 19;83(8):743-51. doi: 10.1212/WNL.0000000000000716. Epub 2014 Jul 18.

27.

Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.

Matilainen S, Isohanni P, Euro L, Lönnqvist T, Pihko H, Kivelä T, Knuutila S, Suomalainen A.

Eur J Hum Genet. 2015 Mar;23(3):325-30. doi: 10.1038/ejhg.2014.128. Epub 2014 Jul 2. Review. Erratum in: Eur J Hum Genet. 2017 Feb;25(3):0-393.

28.

A multicenter study on Leigh syndrome: disease course and predictors of survival.

Sofou K, De Coo IF, Isohanni P, Ostergaard E, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, De Angst IB, Lönnqvist T, Pihko H, Mankinen K, Bindoff LA, Tulinius M, Darin N.

Orphanet J Rare Dis. 2014 Apr 15;9:52. doi: 10.1186/1750-1172-9-52.

29.

Neurocognitive long term follow-up study on drowned children.

Suominen PK, Sutinen N, Valle S, Olkkola KT, Lönnqvist T.

Resuscitation. 2014 Aug;85(8):1059-64. doi: 10.1016/j.resuscitation.2014.03.307. Epub 2014 Apr 4.

PMID:
24709615
30.

Radiation therapy and concurrent topotecan followed by maintenance triple anti-angiogenic therapy with thalidomide, etoposide, and celecoxib for pediatric diffuse intrinsic pontine glioma.

Porkholm M, Valanne L, Lönnqvist T, Holm S, Lannering B, Riikonen P, Wojcik D, Sehested A, Clausen N, Harila-Saari A, Schomerus E, Thorarinsdottir HK, Lähteenmäki P, Arola M, Thomassen H, Saarinen-Pihkala UM, Kivivuori SM.

Pediatr Blood Cancer. 2014 Sep;61(9):1603-9. doi: 10.1002/pbc.25045. Epub 2014 Apr 1.

PMID:
24692119
31.

[How do I tell about a severe illness of a child?].

Lönnqvist T.

Duodecim. 2014;130(1):57-62. Finnish.

PMID:
24547625
32.

Motor development of infants with univentricular heart at the ages of 16 and 52 weeks.

Rajantie I, Laurila M, Pollari K, Lönnqvist T, Sarajuuri A, Jokinen E, Mälkiä E.

Pediatr Phys Ther. 2013 Winter;25(4):444-50. doi: 10.1097/PEP.0b013e3182a31704.

PMID:
23995669
33.

Infant botulism with prolonged faecal excretion of botulinum neurotoxin and Clostridium botulinum for 7 months.

Derman Y, Korkeala H, Salo E, Lönnqvist T, Saxen H, Lindström M.

Epidemiol Infect. 2014 Feb;142(2):335-9. doi: 10.1017/S0950268813001258. Epub 2013 May 21.

PMID:
23688392
34.

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.

Ylikallio E, Pöyhönen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lönnqvist T, Tyynismaa H.

Hum Mol Genet. 2013 Aug 1;22(15):2975-83. doi: 10.1093/hmg/ddt149. Epub 2013 Apr 4.

PMID:
23562820
35.

Elevated head circumference-to-height ratio is an early and frequent feature in children with neurofibromatosis type 1.

Karvonen M, Saari A, Hannila ML, Lönnqvist T, Dunkel L, Sankilampi U.

Horm Res Paediatr. 2013;79(2):97-102. doi: 10.1159/000347119. Epub 2013 Feb 28.

PMID:
23466600
36.

Neurodevelopmental burden at age 5 years in patients with univentricular heart.

Sarajuuri A, Jokinen E, Mildh L, Tujulin AM, Mattila I, Valanne L, Lönnqvist T.

Pediatrics. 2012 Dec;130(6):e1636-46. doi: 10.1542/peds.2012-0486. Epub 2012 Nov 19.

PMID:
23166336
37.

Patients with univentricular heart in early childhood: parenting stress and child behaviour.

Sarajuuri A, Lönnqvist T, Schmitt F, Almqvist F, Jokinen E.

Acta Paediatr. 2012 Mar;101(3):252-7. doi: 10.1111/j.1651-2227.2011.02509.x. Epub 2011 Nov 29.

PMID:
22040350
38.

Neurocognitive development and behavioral outcome of 2-year-old children with univentricular heart.

Puosi R, Korkman M, Sarajuuri A, Jokinen E, Mildh L, Mattila I, Lönnqvist T.

J Int Neuropsychol Soc. 2011 Nov;17(6):1094-103. doi: 10.1017/S135561771100110X. Epub 2011 Oct 13.

PMID:
22014005
39.

[IOSCA - Infantile onset spinocerebellar ataxia].

Lönnqvist T.

Duodecim. 2011;127(14):1460-9. Review. Finnish.

PMID:
21888047
40.

Neurological development in 21 children on peritoneal dialysis in infancy.

Laakkonen H, Lönnqvist T, Valanne L, Karikoski J, Holmberg C, Rönnholm K.

Pediatr Nephrol. 2011 Oct;26(10):1863-71. doi: 10.1007/s00467-011-1893-y. Epub 2011 May 6.

PMID:
21547426
41.

Ataxia rating scales are problematic in young children.

Lönnqvist T.

Dev Med Child Neurol. 2011 Jun;53(6):484. doi: 10.1111/j.1469-8749.2011.03957.x. Epub 2011 Apr 18. No abstract available.

42.

POLG1 manifestations in childhood.

Isohanni P, Hakonen AH, Euro L, Paetau I, Linnankivi T, Liukkonen E, Wallden T, Luostarinen L, Valanne L, Paetau A, Uusimaa J, Lönnqvist T, Suomalainen A, Pihko H.

Neurology. 2011 Mar 1;76(9):811-5. doi: 10.1212/WNL.0b013e31820e7b25.

PMID:
21357833
43.

Dominant encephalopathy mimicking mitochondrial disease.

Lönnqvist T, Isohanni P, Valanne L, Olli-Lähdesmäki T, Suomalainen A, Pihko H.

Neurology. 2011 Jan 4;76(1):101-3. doi: 10.1212/WNL.0b013e318203e908. No abstract available.

PMID:
21205700
44.

Antiangiogenic combination therapy after local radiotherapy with topotecan radiosensitizer improved quality of life for children with inoperable brainstem gliomas.

Kivivuori SM, Riikonen P, Valanne L, Lönnqvist T, Saarinen-Pihkala UM.

Acta Paediatr. 2011 Jan;100(1):134-8. doi: 10.1111/j.1651-2227.2010.01961.x. No abstract available.

PMID:
20712831
45.

Neurodevelopment in children with hypoplastic left heart syndrome.

Sarajuuri A, Jokinen E, Puosi R, Mildh L, Mattila I, Lano A, Lönnqvist T.

J Pediatr. 2010 Sep;157(3):414-20, 420.e1-4. doi: 10.1016/j.jpeds.2010.04.027. Epub 2010 Jun 8.

PMID:
20570285
46.

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.

Isohanni P, Linnankivi T, Buzkova J, Lönnqvist T, Pihko H, Valanne L, Tienari PJ, Elovaara I, Pirttilä T, Reunanen M, Koivisto K, Marjavaara S, Suomalainen A.

J Med Genet. 2010 Jan;47(1):66-70. doi: 10.1136/jmg.2009.068221. Epub 2009 Jul 9.

PMID:
19592391
47.

Differential diagnosis of acute central nervous system infections in children using modern microbiological methods.

Huttunen P, Lappalainen M, Salo E, Lönnqvist T, Jokela P, Hyypiä T, Peltola H.

Acta Paediatr. 2009 Aug;98(8):1300-6. doi: 10.1111/j.1651-2227.2009.01336.x. Epub 2009 May 7.

PMID:
19432824
48.

Recessive twinkle mutations cause severe epileptic encephalopathy.

Lönnqvist T, Paetau A, Valanne L, Pihko H.

Brain. 2009 Jun;132(Pt 6):1553-62. doi: 10.1093/brain/awp045. Epub 2009 Mar 20.

PMID:
19304794
49.

Prospective follow-up study of children with univentricular heart: neurodevelopmental outcome at age 12 months.

Sarajuuri A, Lönnqvist T, Mildh L, Rajantie I, Eronen M, Mattila I, Jokinen E.

J Thorac Cardiovasc Surg. 2009 Jan;137(1):139-45, 145.e1-2. doi: 10.1016/j.jtcvs.2008.06.025. Epub 2008 Jul 24.

50.

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, Lampinen M, Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A.

Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. Epub 2008 Sep 5.

PMID:
18775955

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