If you made any changes in Pure these will be visible here soon.

Publications 1983 2019

Filter
Article
2019

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

Kiiski, K. J., Lehtokari, V-L., Vihola, A. K., Laitila, J. M., Huovinen, S., Sagath, L. J., Evilä, A. E., Paetau, A. E., Sewry, C. A., Hackman, P. B., Pelin, K. B., Wallgren-Pettersson, C. & Udd, B., Feb 2019, In : Neuromuscular Disorders. 29, 2, p. 97-107 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

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., 22 Jan 2019, In : Alzheimer's research & therapy. 11, 12 p., 11.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy

Hakonen, A. H., Polvi, A., Saloranta, C., Paetau, A., Heikkilä, P., Almusa, H., Ellonen, P., Jakkula, E., Saarela, J. & Aittomäki, K., Jul 2019, In : American Journal of Medical Genetics. Part A. 179, 7, p. 1362-1365 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File
2018

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

Nikkanen, J., Landoni, J. C., Balboa, D., Haugas, M., Partanen, J., Paetau, A., Isohanni, P., Brilhante, V. & Suomalainen, A., Jan 2018, In : EMBO molecular medicine. 10, 1, p. 13-21 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

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

Mäkelä, M., Kaivola, K., Valori, M., Paetau, A., Polvikoski, T., Singleton, A. B., Traynor, B. J., Stone, D. J., Peuralinna, T., Tienari, P. J., Tanskanen, M. & Myllykangas, L., Feb 2018, In : Neurology Genetics. UNSP e211 .

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

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

Hooshmand, B., Polvikoski, T., Kivipelto, M., Myllykangas, L., Mäkelä, M., Tanskanen, M., Oinas, M., Paetau, A. & Solomon, A., Jun 2018, In : Journal of internal medicine. 283, 6, p. 597-603 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File
Open Access
File

Genetics of dementia in a Finnish cohort

Pasanen, P., Myllykangas, L., Pöyhönen, M., Kiviharju, A., Siitonen, M., Hardy, J., Bras, J., Paetau, A., Tienari, P. J., Guerreiro, R. & Verkkoniemi-Ahola, A., Jun 2018, In : European Journal of Human Genetics. 26, 6, p. 827-837 11 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Kero, M., Raunio, A., Polvikoski, T., Tienari, P. J., Paetau, A. & Myllykangas, L., 2018, In : Journal of Alzheimer's Disease. 63, 1, p. 263-272 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy

Ignatenko, O., Chilov, D., Paetau, I., de Miguel, E., Jackson, C. B., Capin, G., Paetau, A., Terzioglu, M., Euro, L. & Suomalainen, A., 4 Jan 2018, In : Nature Communications. 9, 12 p., 70.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

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

Sainio, M. T., 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., 4 Dec 2018, In : Journal of Neurology. p. 353-360 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File
2017

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

Raunio, A. K., Myllykangas, L., Kero, M., Polvikoski, T., Paetau, A. & Oinas, M., 2017, In : Journal of Alzheimer's Disease. 58, 3, p. 669-674 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

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

Kuuluvainen, L., Pöyhönen, M., Pasanen, P., Siitonen, M., Rummukainen, J., Tienari, P. J., Paetau, A. & Myllykangas, L., 2017, In : Journal of Alzheimer's Disease. 55, 3, p. 1167-1174 8 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Auranen, M., Toppila, J., Suriyanarayanan, S., Lone, M. A., Paetau, A., Tyynismaa, H., Hornemann, T. & Ylikallio, E., 21 Nov 2017, In : Cold Spring Harbor Molecular Case Studies. 3, 6, 8 p., a002212.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome

Matilainen, S., Carroll, C. J., Richter, U., Euro, L., Pohjanpelto, M., Paetau, A., Isohanni, P. & Suomalainen, A., 1 Sep 2017, In : Human Molecular Genetics. 26, 17, p. 3352-3361 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
Open Access

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, R. K. & Tyni, T., Jun 2017, In : Neuromuscular Disorders. 27, 6, p. 581-584 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

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

Tanskanen, M., Mäkelä, M., Notkola, I-L., Myllykangas, L., Rastas, S., Oinas, M., Lindsberg, P. J., Polvikoski, T., Tienari, P. J. & Paetau, A., Mar 2017, In : Annals of Clinical and Translational Neurology. 4, 3, p. 154-165 12 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

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

Pasanen, P., Palin, E., Pohjolan-Pirhonen, R., Pöyhönen, M., Rinne, J. O., Päivärinta, M., Martikainen, M. H., Kaasinen, V., Hietala, M., Gardberg, M., Saukkonen, A. M., Eerola-Rautio, J., Kaakkola, S., Lyytinen, J., Tienari, P., Paetau, A., Suomalainen, A. & Myllykangas, L., 2017, In : Neurobiology of Aging. 50, 4 p., 168.e5 .

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

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

Anttonen, A-K., Laari, A., Kousi, M., Yang, Y. J., Jääskeläinen, T., Somer, M., Siintola, E., Jakkula, E., Muona, M., Tegelberg, S., Lönnqvist, T., Pihko, H., Valanne, L., Paetau, A., Lun, M. P., Hästbacka, J., Kopra, O., Joensuu, T., Katsanis, N., Lehtinen, M. K. & 2 othersPalvimo, J. J. & Lehesjoki, A-E., May 2017, In : Brain : a journal of neurology. 140, p. 1267-1279 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File
2016

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, M. J., Akawi, N., McRae, J., Hurles, M. E. & 9 othersKuismin, O., Kurki, M. I., Anttonen, A-K., Tanaka, K., Palotie, A., Waguri, S., Lehesjoki, A-E., Komatsus, M. & DDD Study, 1 Sep 2016, In : American Journal of Human Genetics. 99, 3, p. 683-694 12 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

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., 29 Nov 2016, In : Journal of Neuromuscular Diseases. 3, 4, p. 475-485 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Deposition of C-terminally truncated A beta species A beta 37 and A beta 39 in Alzheimer's disease and transgenic mouse models

Reinert, J., Richard, B. C., Klafki, H. W., Friedrich, B., Bayer, T. A., Wiltfang, J., Kovacs, G. G., Ingelsson, M., Lannfelt, L., Paetau, A., Bergquist, J. & Wirths, O., 8 Mar 2016, In : Acta Neuropathologica Communications. 4, 12 p., 24.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Immune activation enhances epithelial nerve growth in provoked vestibulodynia

Tommola, P., Unkila-Kallio, L., Paetau, A., Meri, S., Kalso, E. & Paavonen, J., Dec 2016, In : American Journal of Obstetrics and Gynecology. 215, 6, 8 p., ARTN 768.e1-8.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

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

Nikkanen, J., Forsstrom, S., Euro, L., Paetau, I., Kohnz, R. A., Wang, L., Chilov, D., Viinamaki, J., Roivainen, A., Marjamaki, P., Liljenback, H., Ahola, S., Buzkova, J., Terzioglu, M., Khan, N. A., Pirnes-Karhu, S., Paetau, A., Lonnqvist, T., Sajantila, A., Isohanni, P. & 6 othersTyynismaa, H., Nomura, D. K., Battersby, B. J., Velagapudi, V., Carroll, C. J. & Suomalainen, A., 12 Apr 2016, In : Cell Metabolism. 23, 4, p. 635-648 14 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

The Rare Costello Variant HRAS c.173C > T (p.T58I) with Severe Neonatal Hypertrophic Cardiomyopathy

Hiippala, A., Vasilescu, C., Tallila, J., Alastalo, T-P., Paetau, A., Tyni, T., Suomalainen, A., Euro, L. & Ojala, T., Jun 2016, In : American Journal of Medical Genetics. Part A. 170, 6, p. 1433-1438 6 p.

Research output: Contribution to journalArticleScientificpeer-review

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., Schoen, U., Abicht, A., Rautenstrauss, B., Tyynismaa, H., Walter, M. C., Hornemann, T. & Ylikallio, E., Mar 2016, In : NeuroMolecular Medicine. 18, 1, p. 81-90 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File
2015

Capillary Amyloid-beta Protein Deposition in a Population-Based Study (Vantaa 85+)

Makela, M., Paetau, A., Polvikoski, T., Myllykangas, L. & Tanskanen, M., 2015, In : Journal of Alzheimer's Disease. 49, 1, p. 149-157 9 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Mattila, O. S., Sairanen, T., Laakso, E., Paetau, A., Tanskanen, M. & Lindsberg, P. J., Feb 2015, In : Neuropathology. 35, 1, p. 70-74 5 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Auranen, M., Ylikallio, E., Scherbii, M., Paetau, A., Kiuru-Enari, S., Toppila, J. P. & Tyynismaa, H. R. S., 14 Apr 2015, In : Neurology Genetics. 1, 1

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Creutzfeldt-Jakobin taudin ilmiasu ja ilmaantuvuus Suomessa vuosina 1997-2013

Isotalo, J., Gardberg, M., Verkkoniemi-Ahola, A., Paetau, A., Martikainen, M. H., Korpela, J., Rummukainen, J., Jääskeläinen, S. K., Parkkola, R. & Kaasinen, V., 2015, In : Duodecim. 131, 5, p. 465-474 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Genome-wide association study of neocortical Lewy-related pathology

Peuralinna, T., Myllykangas, L., Oinas, M., Nails, M. A., Keage, H. A. D., Isoviita, V-M., Valori, M. V. P., Polvikoski, T., Paetau, A., Sulkava, R., Ince, P. G., Zaccai, J., Brayne, C., Traynor, B. J., Hardy, J., Singleton, A. B. & Tienari, P. J., 18 Aug 2015, In : Annals of Clinical and Translational Neurology. 2, 9, p. 920–931 12 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

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

Auranen, M., Palmio, J., Ylikallio, E. A., Huovinen, S., Paetau, A. E., Sandell, S., Haapasalo, H., Viitaniemi, K., Piirilä, P., Tyynismaa, H. & Udd, A. B., 2015, In : Neurology Genetics. 1, e7.

Research output: Contribution to journalArticleScientificpeer-review

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Anttonen, A-K., Hilander, T., Linnankivi, T., Isohanni, P., French, R. L., Liu, Y., Simonovic, M., Soell, D., Somer, M., Muth-Pawlak, D., Corthals, G. L., Laari, A., Ylikallio, E., Lahde, M., Valanne, L., Lonnqvist, T., Pihko, H., Paetau, A., Lehesjoki, A-E., Suomalainen, A. & 1 othersTyynismaa, H., 28 Jul 2015, In : Neurology. 85, 4, p. 306-315 10 p.

Research output: Contribution to journalArticleScientificpeer-review

2014

A beta(38) 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, T. A. & Wirths, O., 2014, In : Journal of Alzheimer's Disease. 39, 4, p. 871-881 11 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Guzman, E. A., Bouter, Y., Richard, B. C., Lannfelt, L., Ingelsson, M., Paetau, A., Verkkoniemi-Ahola, A., Wirths, O. & Bayer, T. A., 2 Apr 2014, In : Molecular Neurodegeneration. 9, 11 p., 13.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma

Ferrari, R., Kero, M., Mok, K., Paetau, A., Tienari, P. J., Tynninen, O., Hardy, J., Momeni, P., Verkkoniemi-Ahola, A. & Myllykangas, L., 1 Feb 2014, In : Neurobiology of Aging. 35, 2, 4 p., 444.e11.

Research output: Contribution to journalArticleScientificpeer-review

TLR3 deficiency in herpes simplex encephalitis High allelic heterogeneity and recurrence risk

Lim, H. K., Seppanen, M., Hautala, T., Ciancanelli, M. J., Itan, Y., Lafaille, F. G., Dell, W., Lorenzo, L., Byun, M., Pauwels, E., Ronnelid, Y., Cai, X., Boucherit, S., Jouanguy, E., Paetau, A., Lebon, P., Rozenberg, F., Tardieu, M., Abel, L., Yildiran, A. & 6 othersVergison, A., Roivainen, R., Etzioni, A., Tienari, P. J., Casanova, J-L. & Zhang, S-Y., 18 Nov 2014, In : Neurology. 83, 21, p. 1888-1897 10 p.

Research output: Contribution to journalArticleScientificpeer-review

2013

Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population.

Kero, M., Paetau, A., Polvikoski, T., Tanskanen, M., Sulkava, R., Jansson, L., Myllykangas, L. T. & Tienari, P., 2013, In : Neurobiology of Aging. 34, 5, p. 1518.e1-1518.e3 3 p.

Research output: Contribution to journalArticleScientificpeer-review

Consensus Recommendations on Pathologic Changes in the Hippocampus: A Postmortem Multicenter Inter-Rater Study

Rauramaa, T., Pikkarainen, M., Englund, E., Ince, P. G., Jellinger, K., Paetau, A. & Alafuzoff, I., Jun 2013, In : Journal of Neuropathology and Experimental Neurology. 72, 6, p. 452-461 10 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Ylikallio, E., Poyhonen, R., Zimon, M., De Vriendt, E., Hilander, T., Paetau, A., Jordanova, A., Lönnqvist, T. & Tyynismaa, H., 1 Aug 2013, In : Human Molecular Genetics. 22, 15, p. 2975-2983 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Interictal MEG reveals focal cortical dysplasias: Special focus on patients with no visible MRI lesions

Wilenius, J., Medvedovsky, M., Gaily, E., Metsähonkala, E-L., Mäkelä, J., Paetau, A., Valanne, L. & Paetau, R., Aug 2013, In : Epilepsy Research. 105, 3, p. 337-348 12 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Palin, E. J. H., Paetau, A. & Suomalainen, A., Aug 2013, In : Brain : a journal of neurology. 136, p. 2379-2392 14 p.

Research output: Contribution to journalArticleScientificpeer-review

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, B. C., Paetau, A., Verkkoniemi-Ahola, A., Lannfelt, L., Ingelsson, M., Kovacs, G. G., Pillot, T., Wirths, O. & Bayer, T. A., Sep 2013, In : Acta Neuropathologica Communications. 1, 1, 15 p., 56.

Research output: Contribution to journalArticleScientificpeer-review

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, E. C. W., Sulkava, R. & Solomon, A., Sep 2013, In : Brain : a journal of neurology. 136, p. 2707-2716 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Polymorphonuclear neutrophil infiltration into ischemic infarctions: myth or truth?

Kalimo, H., del Zoppo, G. J., Paetau, A. & Lindsberg, P. J., Mar 2013, In : Acta Neuropathologica. 125, 3, p. 313-316 4 p.

Research output: Contribution to journalArticleScientific

Relationships Between White Matter Hyperintensities, Cerebral Amyloid Angiopathy and Dementia in a Population-based Sample of the Oldest Old

Tanskanen, M., Kalaria, R. N., Notkola, I. -L., Makela, M., Polvikoski, T., Myllykangas, L., Sulkava, R., Kalimo, H., Paetau, A., Scheltens, P., Barkhof, F., van Straaten, E. C. W. & Erkinjuntti, T., Dec 2013, In : Current Alzheimer research. 10, 10, p. 1090-1097 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

Carroll, C. J., Isohanni, P., Poyhonen, R., Euro, L., Richter, U., Brilhante, V., Gotz, A., Lahtinen, T., Paetau, A., Pihko, H., Battersby, B. J., Tyynismaa, H. & Suomalainen, A., Mar 2013, In : Journal of Medical Genetics. 50, 3, p. 151-159 9 p.

Research output: Contribution to journalArticleScientificpeer-review