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Items: 1 to 50 of 233

1.

Putative risk alleles for LATE-NC with hippocampal sclerosis in population-representative autopsy cohorts.

Hokkanen SRK, Kero M, Kaivola K, Hunter S, Keage HAD, Kiviharju A, Raunio A, Tienari PJ, Paetau A, Matthews FE, Fleming J, Graff C, Polvikoski TM, Myllykangas L, Brayne C; EClipSE collaboration.

Brain Pathol. 2019 Aug 3. doi: 10.1111/bpa.12773. [Epub ahead of print]

PMID:
31376286
2.

Non-Invasive Vascular Very-High Resolution Ultrasound to Quantify Artery Intima Layer Thickness: Validation of the Four-Line Pattern.

Sundholm JKM, Paetau A, Albäck A, Pettersson T, Sarkola T.

Ultrasound Med Biol. 2019 Aug;45(8):2010-2018. doi: 10.1016/j.ultrasmedbio.2019.04.017. Epub 2019 May 14.

PMID:
31101444
3.

Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutation.

Kuuluvainen L, Kaivola K, Mönkäre S, Laaksovirta H, Jokela M, Udd B, Valori M, Pasanen P, Paetau A, Traynor BJ, Stone DJ, Schleutker J, Pöyhönen M, Tienari PJ, Myllykangas L.

Neurol Genet. 2019 Apr 23;5(3):e335. doi: 10.1212/NXG.0000000000000335. eCollection 2019 Jun.

4.

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.

Hakonen AH, Polvi A, Saloranta C, Paetau A, Heikkilä P, Almusa H, Ellonen P, Jakkula E, Saarela J, Aittomäki K.

Am J Med Genet A. 2019 Jul;179(7):1362-1365. doi: 10.1002/ajmg.a.61186. Epub 2019 May 6.

PMID:
31059209
5.

The Incidence and Predisposing Factors of John Cunningham Virus-Induced Progressive Multifocal Leukoencephalopathy in Southern Finland: A Population-Based Study.

Kartau M, Verkkoniemi-Ahola A, Paetau A, Palomäki M, Janes R, Ristola M, Lappalainen M, Anttila VJ.

Open Forum Infect Dis. 2019 Feb 22;6(2):ofz024. doi: 10.1093/ofid/ofz024. eCollection 2019 Feb.

6.

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Kiiski KJ, Lehtokari VL, Vihola AK, Laitila JM, Huovinen S, Sagath LJ, Evilä AE, Paetau AE, Sewry CA, Hackman PB, Pelin KB, Wallgren-Pettersson C, Udd B.

Neuromuscul Disord. 2019 Feb;29(2):97-107. doi: 10.1016/j.nmd.2018.12.007. Epub 2018 Dec 20.

PMID:
30679003
7.

Prediction models for dementia and neuropathology in the oldest old: the Vantaa 85+ cohort study.

Hall A, Pekkala T, Polvikoski T, van Gils M, Kivipelto M, Lötjönen J, Mattila J, Kero M, Myllykangas L, Mäkelä M, Oinas M, Paetau A, Soininen H, Tanskanen M, Solomon A.

Alzheimers Res Ther. 2019 Jan 22;11(1):11. doi: 10.1186/s13195-018-0450-3.

8.

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

Sainio MT, Välipakka S, Rinaldi B, Lapatto H, Paetau A, Ojanen S, Brilhante V, Jokela M, Huovinen S, Auranen M, Palmio J, Friant S, Ylikallio E, Udd B, Tyynismaa H.

J Neurol. 2019 Feb;266(2):353-360. doi: 10.1007/s00415-018-9137-8. Epub 2018 Dec 4.

9.

Fatal Tick-Borne Encephalitis Virus Infections Caused by Siberian and European Subtypes, Finland, 2015.

Kuivanen S, Smura T, Rantanen K, Kämppi L, Kantonen J, Kero M, Jääskeläinen A, Jääskeläinen AJ, Sane J, Myllykangas L, Paetau A, Vapalahti O.

Emerg Infect Dis. 2018 May;24(5):946-948. doi: 10.3201/eid2405.171986.

10.

Hippocampal Sclerosis in the Oldest Old: A Finnish Population-Based Study.

Kero M, Raunio A, Polvikoski T, Tienari PJ, Paetau A, Myllykangas L.

J Alzheimers Dis. 2018;63(1):263-272. doi: 10.3233/JAD-171068.

11.

Genetics of dementia in a Finnish cohort.

Pasanen P, Myllykangas L, Pöyhönen M, Kiviharju A, Siitonen M, Hardy J, Bras J, Paetau A, Tienari PJ, Guerreiro R, Verkkoniemi-Ahola A.

Eur J Hum Genet. 2018 Jun;26(6):827-837. doi: 10.1038/s41431-018-0117-3. Epub 2018 Feb 23.

12.

CAIDE Dementia Risk Score, Alzheimer and cerebrovascular pathology: a population-based autopsy study.

Hooshmand B, Polvikoski T, Kivipelto M, Tanskanen M, Myllykangas L, Mäkelä M, Oinas M, Paetau A, Solomon A.

J Intern Med. 2018 Jun;283(6):597-603. doi: 10.1111/joim.12736. Epub 2018 Mar 14.

PMID:
29411449
13.

Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+).

Mäkelä M, Kaivola K, Valori M, Paetau A, Polvikoski T, Singleton AB, Traynor BJ, Stone DJ, Peuralinna T, Tienari PJ, Tanskanen M, Myllykangas L.

Neurol Genet. 2018 Jan 18;4(1):e211. doi: 10.1212/NXG.0000000000000211. eCollection 2018 Feb.

14.

Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy.

Ignatenko O, Chilov D, Paetau I, de Miguel E, Jackson CB, Capin G, Paetau A, Terzioglu M, Euro L, Suomalainen A.

Nat Commun. 2018 Jan 4;9(1):70. doi: 10.1038/s41467-017-01859-9.

15.

A complex genomic locus drives mtDNA replicase POLG expression to its disease-related nervous system regions.

Nikkanen J, Landoni JC, Balboa D, Haugas M, Partanen J, Paetau A, Isohanni P, Brilhante V, Suomalainen A.

EMBO Mol Med. 2018 Jan;10(1):13-21. doi: 10.15252/emmm.201707993.

16.

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.

Auranen M, Toppila J, Suriyanarayanan S, Lone MA, Paetau A, Tyynismaa H, Hornemann T, Ylikallio E.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002212. doi: 10.1101/mcs.a002212. Print 2017 Nov.

17.

Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.

Matilainen S, Carroll CJ, Richter U, Euro L, Pohjanpelto M, Paetau A, Isohanni P, Suomalainen A.

Hum Mol Genet. 2017 Sep 1;26(17):3352-3361. doi: 10.1093/hmg/ddx221.

PMID:
28645153
18.

Amygdala α-Synuclein Pathology in the Population-Based Vantaa 85+ Study.

Raunio A, Myllykangas L, Kero M, Polvikoski T, Paetau A, Oinas M.

J Alzheimers Dis. 2017;58(3):669-674. doi: 10.3233/JAD-170104.

19.

Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy.

Auranen M, Paetau A, Piirilä P, Pohju A, Salmi T, Lamminen A, Löfberg M, Mosegaard S, Olsen RK, Tyni T.

Neuromuscul Disord. 2017 Jun;27(6):581-584. doi: 10.1016/j.nmd.2017.03.003. Epub 2017 Mar 9.

PMID:
28433476
20.

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
21.

Population-based analysis of pathological correlates of dementia in the oldest old.

Tanskanen M, Mäkelä M, Notkola IL, Myllykangas L, Rastas S, Oinas M, Lindsberg PJ, Polvikoski T, Tienari PJ, Paetau A.

Ann Clin Transl Neurol. 2017 Feb 12;4(3):154-165. doi: 10.1002/acn3.389. eCollection 2017 Mar.

22.

Impact of AIP and inhibitory G protein alpha 2 proteins on clinical features of sporadic GH-secreting pituitary adenomas.

Ritvonen E, Pitkänen E, Karppinen A, Vehkavaara S, Demir H, Paetau A, Schalin-Jäntti C, Karhu A.

Eur J Endocrinol. 2017 Feb;176(2):243-252. doi: 10.1530/EJE-16-0620.

PMID:
27998919
23.

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.

Ylikallio E, Auranen M, Mahjneh I, Lamminen A, Kousi M, Träskelin AL, Muurinen T, Löfberg M, Salmi T, Paetau A, Lehesjoki AE, Piirilä P, Kiuru-Enari S.

J Neuromuscul Dis. 2016 Nov 29;3(4):475-485.

PMID:
27911336
24.

SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population.

Pasanen P, Palin E, Pohjolan-Pirhonen R, Pöyhönen M, Rinne JO, Päivärinta M, Martikainen MH, Kaasinen V, Hietala M, Gardberg M, Saukkonen AM, Eerola-Rautio J, Kaakkola S, Lyytinen J, Tienari PJ, Paetau A, Suomalainen A, Myllykangas L.

Neurobiol Aging. 2017 Feb;50:168.e5-168.e8. doi: 10.1016/j.neurobiolaging.2016.10.014. Epub 2016 Oct 19.

PMID:
27838048
25.

A Novel Loss-of-Function GRN Mutation p.(Tyr229*): Clinical and Neuropathological Features.

Kuuluvainen L, Pöyhönen M, Pasanen P, Siitonen M, Rummukainen J, Tienari PJ, Paetau A, Myllykangas L.

J Alzheimers Dis. 2017;55(3):1167-1174.

PMID:
27767988
26.

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

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, McKee S, Parker MJ, Akawi N, McRae J, Hurles ME; DDD Study, Kuismin O, Kurki MI, Anttonen AK, Tanaka K, Palotie A, Waguri S, Lehesjoki AE, Komatsu M.

Am J Hum Genet. 2016 Sep 1;99(3):683-694. doi: 10.1016/j.ajhg.2016.06.020. Epub 2016 Aug 18.

27.

Immune activation enhances epithelial nerve growth in provoked vestibulodynia.

Tommola P, Unkila-Kallio L, Paetau A, Meri S, Kalso E, Paavonen J.

Am J Obstet Gynecol. 2016 Dec;215(6):768.e1-768.e8. doi: 10.1016/j.ajog.2016.07.037. Epub 2016 Jul 25.

PMID:
27457118
28.

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry.

Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S, Haapasalo H, Viitaniemi K, Piirilä P, Tyynismaa H, Udd B.

Neurol Genet. 2015 Jun 4;1(1):e7. doi: 10.1212/NXG.0000000000000007. eCollection 2015 Jun.

29.

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.

Auranen M, Ylikallio E, Shcherbii M, Paetau A, Kiuru-Enari S, Toppila JP, Tyynismaa H.

Neurol Genet. 2015 Mar 26;1(1):e1. doi: 10.1212/NXG.0000000000000003. eCollection 2015 Jun.

30.

Deposition of C-terminally truncated Aβ species Aβ37 and Aβ39 in Alzheimer's disease and transgenic mouse models.

Reinert J, Richard BC, Klafki HW, Friedrich B, Bayer TA, Wiltfang J, Kovacs GG, Ingelsson M, Lannfelt L, Paetau A, Bergquist J, Wirths O.

Acta Neuropathol Commun. 2016 Mar 8;4:24. doi: 10.1186/s40478-016-0294-7.

31.

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.

32.

The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.

Hiippala A, Vasilescu C, Tallila J, Alastalo TP, Paetau A, Tyni T, Suomalainen A, Euro L, Ojala T.

Am J Med Genet A. 2016 Jun;170(6):1433-8. doi: 10.1002/ajmg.a.37596. Epub 2016 Feb 17.

PMID:
26888048
33.

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.

Suriyanarayanan S, Auranen M, Toppila J, Paetau A, Shcherbii M, Palin E, Wei Y, Lohioja T, Schlotter-Weigel B, Schön U, Abicht A, Rautenstrauss B, Tyynismaa H, Walter MC, Hornemann T, Ylikallio E.

Neuromolecular Med. 2016 Mar;18(1):81-90. doi: 10.1007/s12017-015-8379-1. Epub 2015 Nov 16.

PMID:
26573920
34.

Capillary amyloid-β protein deposition in a population-based study (Vantaa 85+).

Mäkelä M, Paetau A, Polvikoski T, Myllykangas L, Tanskanen M.

J Alzheimers Dis. 2016;49(1):149-57. doi: 10.3233/JAD-150241.

PMID:
26444758
35.

Genome-wide association study of neocortical Lewy-related pathology.

Peuralinna T, Myllykangas L, Oinas M, Nalls MA, Keage HA, Isoviita VM, Valori M, Polvikoski T, Paetau A, Sulkava R, Ince PG, Zaccai J, Brayne C, Traynor BJ, Hardy J, Singleton AB, Tienari PJ.

Ann Clin Transl Neurol. 2015 Sep;2(9):920-31. doi: 10.1002/acn3.231. Epub 2015 Aug 18.

36.

Biodistribution of boron after intravenous 4-dihydroxyborylphenylalanine-fructose (BPA-F) infusion in meningioma and schwannoma patients: A feasibility study for boron neutron capture therapy.

Kulvik M, Kallio M, Laakso J, Vähätalo J, Hermans R, Järviluoma E, Paetau A, Rasilainen M, Ruokonen I, Seppälä M, Jääskeläinen J.

Appl Radiat Isot. 2015 Dec;106:207-12. doi: 10.1016/j.apradiso.2015.08.006. Epub 2015 Aug 10.

PMID:
26298436
37.

[Phenotype and incidence of Creutzfeldt-Jakob disease in Finland in 1997-2013].

Isotalo J, Gardberg M, Verkkoniemi-Ahola A, Paetau A, Martikainen MH, Korpela J, Rummukainen J, Jääskeläinen SK, Parkkola R, Kaasinen V.

Duodecim. 2015;131(5):465-74. Finnish.

PMID:
26237909
38.

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.

39.

Leigh syndrome: neuropathology and pathogenesis.

Lake NJ, Bird MJ, Isohanni P, Paetau A.

J Neuropathol Exp Neurol. 2015 Jun;74(6):482-92. doi: 10.1097/NEN.0000000000000195. Review.

PMID:
25978847
40.

Cerebral amyloid angiopathy related hemorrhage after stroke thrombolysis: case report and literature review.

Mattila OS, Sairanen T, Laakso E, Paetau A, Tanskanen M, Lindsberg PJ.

Neuropathology. 2015 Feb;35(1):70-4. doi: 10.1111/neup.12152. Epub 2014 Nov 6.

PMID:
25377279
41.

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.

Lim HK, Seppänen M, Hautala T, Ciancanelli MJ, Itan Y, Lafaille FG, Dell W, Lorenzo L, Byun M, Pauwels E, Rönnelid Y, Cai X, Boucherit S, Jouanguy E, Paetau A, Lebon P, Rozenberg F, Tardieu M, Abel L, Yildiran A, Vergison A, Roivainen R, Etzioni A, Tienari PJ, Casanova JL, Zhang SY.

Neurology. 2014 Nov 18;83(21):1888-97. doi: 10.1212/WNL.0000000000000999. Epub 2014 Oct 22.

42.

Novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology.

Pasanen P, Myllykangas L, Siitonen M, Raunio A, Kaakkola S, Lyytinen J, Tienari PJ, Pöyhönen M, Paetau A.

Neurobiol Aging. 2014 Sep;35(9):2180.e1-5. doi: 10.1016/j.neurobiolaging.2014.03.024. Epub 2014 Mar 26.

PMID:
24746362
43.

Abundance of Aβ₅-x like immunoreactivity in transgenic 5XFAD, APP/PS1KI and 3xTG mice, sporadic and familial Alzheimer's disease.

Guzmán EA, Bouter Y, Richard BC, Lannfelt L, Ingelsson M, Paetau A, Verkkoniemi-Ahola A, Wirths O, Bayer TA.

Mol Neurodegener. 2014 Apr 2;9:13. doi: 10.1186/1750-1326-9-13.

44.

Aβ38 in the brains of patients with sporadic and familial Alzheimer's disease and transgenic mouse models.

Reinert J, Martens H, Huettenrauch M, Kolbow T, Lannfelt L, Ingelsson M, Paetau A, Verkkoniemi-Ahola A, Bayer TA, Wirths O.

J Alzheimers Dis. 2014;39(4):871-81. doi: 10.3233/JAD-131373.

PMID:
24305500
45.

N-truncated Abeta starting with position four: early intraneuronal accumulation and rescue of toxicity using NT4X-167, a novel monoclonal antibody.

Antonios G, Saiepour N, Bouter Y, Richard BC, Paetau A, Verkkoniemi-Ahola A, Lannfelt L, Ingelsson M, Kovacs GG, Pillot T, Wirths O, Bayer TA.

Acta Neuropathol Commun. 2013 Sep 6;1:56. doi: 10.1186/2051-5960-1-56.

46.

Relationships between white matter hyperintensities, cerebral amyloid angiopathy and dementia in a population-based sample of the oldest old.

Tanskanen M, Kalaria RN, Notkola IL, Mäkelä M, Polvikoski T, Myllykangas L, Sulkava R, Kalimo H, Paetau A, Scheltens P, Barkhof F, van Straaten E, Erkinjuntti T.

Curr Alzheimer Res. 2013 Dec;10(10):1090-7.

PMID:
24156259
47.

Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma.

Ferrari R, Kero M, Mok K, Paetau A, Tienari PJ, Tynninen O, Hardy J, Momeni P, Verkkoniemi-Ahola A, Myllykangas L.

Neurobiol Aging. 2014 Feb;35(2):444.e11-4. doi: 10.1016/j.neurobiolaging.2013.08.021. Epub 2013 Sep 27.

PMID:
24080172
48.

Plasma homocysteine, Alzheimer and cerebrovascular pathology: a population-based autopsy study.

Hooshmand B, Polvikoski T, Kivipelto M, Tanskanen M, Myllykangas L, Erkinjuntti T, Mäkelä M, Oinas M, Paetau A, Scheltens P, van Straaten EC, Sulkava R, Solomon A.

Brain. 2013 Sep;136(Pt 9):2707-16. doi: 10.1093/brain/awt206.

49.

Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.

Palin EJ, Paetau A, Suomalainen A.

Brain. 2013 Aug;136(Pt 8):2379-92. doi: 10.1093/brain/awt160. Epub 2013 Jun 27.

PMID:
23811324
50.

Consensus recommendations on pathologic changes in the hippocampus: a postmortem multicenter inter-rater study.

Rauramaa T, Pikkarainen M, Englund E, Ince PG, Jellinger K, Paetau A, Alafuzoff I.

J Neuropathol Exp Neurol. 2013 Jun;72(6):452-61. doi: 10.1097/NEN.0b013e318292492a.

PMID:
23656988

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