Anders Paetau

Anders Paetau

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Anders Paetau

Publications by authors named "Anders Paetau"

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Genetic and Epigenetic Characterization of Growth Hormone-Secreting Pituitary Tumors.

Mol Cancer Res 2019 Dec 2;17(12):2432-2443. Epub 2019 Oct 2.

Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1158/1541-7786.MCR-19-0434DOI Listing
December 2019

Lewy-related pathology exhibits two anatomically and genetically distinct progression patterns: a population-based study of Finns aged 85.

Acta Neuropathol 2019 Nov 7;138(5):771-782. Epub 2019 Sep 7.

Department of Pathology, HUSLAB, Helsinki University Hospital, University of Helsinki, P.O. Box 21, 00014, Helsinki, Finland.

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http://dx.doi.org/10.1007/s00401-019-02071-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800868PMC
November 2019

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

J Alzheimers Dis 2018 ;63(1):263-272

Department of Pathology, University of Helsinki and HUSLAB, Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.3233/JAD-171068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5900558PMC
August 2019

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

Ultrasound Med Biol 2019 08 14;45(8):2010-2018. Epub 2019 May 14.

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.ultrasmedbio.2019.04.017DOI Listing
August 2019

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

Am J Med Genet A 2019 07 6;179(7):1362-1365. Epub 2019 May 6.

Department of Clinical Genetics, HUSLAB, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.61186DOI Listing
July 2019

Diagnostic performance and utility of very high-resolution ultrasonography in diagnosing giant cell arteritis of the temporal artery.

Rheumatol Adv Pract 2019 5;3(2):rkz018. Epub 2019 Jul 5.

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1093/rap/rkz018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735832PMC
July 2019

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

Neurol Genet 2019 Jun 23;5(3):e335. Epub 2019 Apr 23.

Department of Clinical Genetics (L.K.), Helsinki University Hospital; Department of Medical Genetics (L.K.), University of Helsinki, Helsinki, Finland; Molecular Neurology (K.K., M.V., P.J.T.), Research Programs Unit, Biomedicum, University of Helsinki, Helsinki, Finland; Department of Medical Genetics (S.M.), University of Helsinki, Helsinki, Finland and Turku; University Hospital (S.M.), Laboratory Division, Genetics and Saske, Department of Medical Genetics, Turku, Finland; Department of Neurology (H.L.), Helsinki University Hospital, and Molecular Neurology, Research Programs Unit, Biomedicum, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center (M.J., B.U.), Tampere University Hospital and University of Tampere, Tampere, Finland; Division of Clinical Neurosciences (M.J.), Turku University Hospital and University of Turku, Turku, Finland; Folkhälsan Research Center (B.U.), Biomedicum, University of Helsinki, Helsinki, Finland; Institute of Biomedicine (P.P., J.S.), University of Turku; Turku University Hospital (P.P., J.S.), Laboratory Division, Genetics and Saske, Department of Medical Genetics, Turku, Finland; Department of Pathology (A.P.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Laboratory of Neurogenetics (B.J.T.), National Institute on Aging, National Institutes of Health, Bethesda, MD; Merck & Co. (D.J.S.), Inc., West Point, PA; Department of Clinical Genetics (M.P.), Helsinki University Hospital; Department of Medical Genetics (M.P.), University of Helsinki, Helsinki, Finland; Department of Neurology (P.J.T.), Helsinki University Hospital; and Department of Pathology (L.M.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1212/NXG.0000000000000335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481226PMC
June 2019

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

Neuromuscul Disord 2019 02 20;29(2):97-107. Epub 2018 Dec 20.

The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183056
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http://dx.doi.org/10.1016/j.nmd.2018.12.007DOI Listing
February 2019

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

Open Forum Infect Dis 2019 Feb 22;6(2):ofz024. Epub 2019 Feb 22.

Department of Infectious Diseases, Inflammation Center, Helsinki University Hospital and Helsinki University, Finland.

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http://dx.doi.org/10.1093/ofid/ofz024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386113PMC
February 2019

Genetics of dementia in a Finnish cohort.

Eur J Hum Genet 2018 06 23;26(6):827-837. Epub 2018 Feb 23.

Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1038/s41431-018-0117-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974394PMC
June 2018

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

J Alzheimers Dis 2017 ;58(3):669-674

Department of Pathology, University of Helsinkiand Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.3233/JAD-170104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218117PMC
March 2018

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

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

Department of Pathology, University of Helsinki and HUSLAB, Helsinki, Finland.

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http://dx.doi.org/10.3233/JAD-160647DOI Listing
February 2018

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

Neurol Genet 2018 Feb 18;4(1):e211. Epub 2018 Jan 18.

Department of Pathology (M.M., A.E.P., M.T., L.M.), University of Helsinki, and Helsinki University Hospital, Finland; Molecular Neurology (K.K., M.V., T. Peuralinna, P.J.T.), Research Programs Unit, University of Helsinki, and Department of Neurology, Helsinki University Hospital, Finland; Institute of Neuroscience (T. Polvikoski), Newcastle University, United Kingdom; Laboratory of Neurogenetics (A.B.S., B.J.T.), National Institutes on Aging, NIH, Bethesda, MD; and Merck Research Laboratories (D.J.S.), Merck & Co., Inc., West Point, PA, USA.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773846PMC
February 2018

Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy.

Nat Commun 2018 01 4;9(1):70. Epub 2018 Jan 4.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, Haartmaninkatu 8, University of Helsinki, Helsinki, 00014, Finland.

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http://www.nature.com/articles/s41467-017-01859-9
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http://dx.doi.org/10.1038/s41467-017-01859-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754366PMC
January 2018

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

Cold Spring Harb Mol Case Stud 2017 Nov 21;3(6). Epub 2017 Nov 21.

Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki 00014, Finland.

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http://dx.doi.org/10.1101/mcs.a002212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701299PMC
November 2017

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

Hum Mol Genet 2017 09;26(17):3352-3361

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki 00290, Finland.

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http://dx.doi.org/10.1093/hmg/ddx221DOI Listing
September 2017

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

Ann Clin Transl Neurol 2017 03 12;4(3):154-165. Epub 2017 Feb 12.

Department of Pathology Huslab Helsinki University Hospital and Medicum University of Helsinki Helsinki Finland.

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http://dx.doi.org/10.1002/acn3.389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5338150PMC
March 2017

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

Eur J Endocrinol 2017 Feb;176(2):243-252

Department of Medical and Clinical Genetics & Genome-Scale BiologyResearch Programs Unit, University of Helsinki, Helsinki, Finland

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http://dx.doi.org/10.1530/EJE-16-0620DOI Listing
February 2017

Immune activation enhances epithelial nerve growth in provoked vestibulodynia.

Am J Obstet Gynecol 2016 Dec 25;215(6):768.e1-768.e8. Epub 2016 Jul 25.

Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.ajog.2016.07.037DOI Listing
December 2016

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.

J Neuromuscul Dis 2016 11;3(4):475-485

Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Finland.

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http://dx.doi.org/10.3233/JND-160186DOI Listing
November 2016

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

J Alzheimers Dis 2016 ;49(1):149-57

Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.3233/JAD-150241DOI Listing
September 2016

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

Am J Med Genet A 2016 06 17;170(6):1433-8. Epub 2016 Feb 17.

Department of Pediatric Cardiology, Children's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.37596DOI Listing
June 2016

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

Cell Metab 2016 Apr 25;23(4):635-48. Epub 2016 Feb 25.

Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland; Department of Neurology, University of Helsinki, Helsinki University Hospital, 00290 Helsinki, Finland; Neuroscience Center, University of Helsinki, 00790 Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2016.01.019DOI Listing
April 2016

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

Neuromolecular Med 2016 Mar 16;18(1):81-90. Epub 2015 Nov 16.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.

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http://dx.doi.org/10.1007/s12017-015-8379-1DOI Listing
March 2016

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

Ann Clin Transl Neurol 2015 Sep 18;2(9):920-31. Epub 2015 Aug 18.

Molecular Neurology, Research Program Unit, Biomedicum, University of Helsinki Helsinki, Finland ; Department of Neurology, Helsinki University Central Hospital Helsinki, Finland.

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http://dx.doi.org/10.1002/acn3.231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574809PMC
September 2015

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

Neurology 2015 Jul 26;85(4):306-15. Epub 2015 Jun 26.

From the Department of Medical Genetics, Haartman Institute (A.-K.A., H.T.), Folkhälsan Institute of Genetics and Neuroscience Center (A.-K.A., A.L., A.-E.L.), Research Programs Unit, Molecular Neurology, Biomedicum Helsinki (T.H., P.I., A.L., E.Y., A.-E.L.), University of Helsinki; Departments of Clinical Genetics (A.-K.A.) and Neurology (A.S.), Helsinki University Central Hospital; Department of Pediatric Neurology (T. Linnankivi, P.I., T. Lönnqvist, H.P.), Children's Hospital, University of Helsinki and Helsinki University Central Hospital, Finland; Department of Biochemistry and Molecular Genetics (R.L.F., M. Simonović), University of Illinois at Chicago; Department of Molecular Biophysics and Biochemistry (Y.L., D.S.), Yale University, New Haven, CT; Norio Centre (M. Somer), Department of Medical Genetics, Helsinki, Finland; Turku Centre for Biotechnology (D.M.-P., G.L.C.), University of Turku and Åbo Akademi University; Department of Pediatric Neurology (M.L.), South Karelia Central Hospital, Lappeenranta; Department of Radiology (L.V.), HUS Medical Imaging Center, Helsinki; and Department of Pathology (A.P.), HUSLAB and University of Helsinki, Finland. G.L.C. is currently affiliated with Van't Hoff Institute for Molecular Sciences, University of Amsterdam, the Netherlands.

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http://www.neurology.org/content/85/4/306.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000178
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001787DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520820PMC
July 2015

Leigh syndrome: neuropathology and pathogenesis.

J Neuropathol Exp Neurol 2015 Jun;74(6):482-92

From the Murdoch Children's Research Institute, The Royal Children's Hospital (NJL, MJB); and Department of Paediatrics (NJL, MJB) and Center for Neural Engineering, Department of Electrical and Electronic Engineering (MJB), The University of Melbourne, Melbourne, Victoria, Australia; Research Programs Unit, Molecular Neurology Biomedicum-Helsinki (PI), University of Helsinki; and Department of Child Neurology (PI), Children's Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland; and Department of Pathology, HUSLAB (AP), Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1097/NEN.0000000000000195DOI Listing
June 2015

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

Neurol Genet 2015 Jun 26;1(1):e1. Epub 2015 Mar 26.

Research Programs Unit (M.A., E.Y., M.S., H.T.), Molecular Neurology, University of Helsinki; Clinical Neurosciences, Neurology (M.A., S.K.-E.), University of Helsinki and Helsinki University Hospital; Department of Pathology (A.P.), HUSLAB & University of Helsinki; Department of Clinical Neurophysiology (J.P.T.), Medical Imaging Center, Helsinki University Hospital; and Department of Medical Genetics (H.T.), Haartman Institute, University of Helsinki, Finland.

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http://dx.doi.org/10.1212/NXG.0000000000000003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821082PMC
June 2015

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

Neurol Genet 2015 Jun 4;1(1):e7. Epub 2015 Jun 4.

Research Programs Unit (M.A., E.Y., H.T.), Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Neuromuscular Research Center (J.P., S.S., K.V., B.U.), Tampere University Hospital and University of Tampere, Tampere, Finland; Department of Pathology (S.H., H.H.), Fimlab Laboratories, University Hospital and University of Tampere, Tampere, Finland; Department of Pathology (A.P.), HUSLAB, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Neurology (S.S.), Seinäjoki Central Hospital, Seinäjoki, Finland; and Unit of Clinical Physiology (P.P.), HUS Medical Imaging Center, Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1212/NXG.0000000000000007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821086PMC
June 2015

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

Neuropathology 2015 Feb 6;35(1):70-4. Epub 2014 Nov 6.

Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland; Research Program of Molecular Neurology, Research Programs Unit, University of Helsinki, Helsinki, Finland; Department of Clinical Neurosciences, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1111/neup.12152DOI Listing
February 2015

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

J Alzheimers Dis 2014 ;39(4):871-81

Division of Molecular Psychiatry, Department of Psychiatry, University Medicine Goettingen, Goettingen, Germany.

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http://dx.doi.org/10.3233/JAD-131373DOI Listing
October 2014

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

Neurobiol Aging 2014 Sep 26;35(9):2180.e1-5. Epub 2014 Mar 26.

Department of Pathology, University of Helsinki and HUSLAB, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.03.024DOI Listing
September 2014

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

Mol Neurodegener 2014 Apr 2;9:13. Epub 2014 Apr 2.

Division of Molecular Psychiatry Department of Psychiatry, University Medicine Goettingen, D-37075, von-Siebold-Str, 5, Goettingen 37075, Germany.

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http://dx.doi.org/10.1186/1750-1326-9-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975588PMC
April 2014

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

Neurobiol Aging 2014 Feb 27;35(2):444.e11-4. Epub 2013 Sep 27.

Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Sciences Center, Lubbock, TX, USA; Institute of Neurology, University College London, Queen Square, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S01974580130035
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http://dx.doi.org/10.1016/j.neurobiolaging.2013.08.021DOI Listing
February 2014

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

Hum Mol Genet 2013 Aug 4;22(15):2975-83. Epub 2013 Apr 4.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, Finland.

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http://dx.doi.org/10.1093/hmg/ddt149DOI Listing
August 2013

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

Epilepsy Res 2013 Aug 12;105(3):337-48. Epub 2013 Apr 12.

BioMag Laboratory, HUS Medical Imaging Center, Hospital District of Helsinki and Uusimaa, Finland.

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http://dx.doi.org/10.1016/j.eplepsyres.2013.02.023DOI Listing
August 2013

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

Brain 2013 Aug 27;136(Pt 8):2379-92. Epub 2013 Jun 27.

Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1093/brain/awt160DOI Listing
August 2013

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

Neurobiol Aging 2013 May 24;34(5):1518.e1-3. Epub 2012 Oct 24.

Department of Pathology, University of Helsinki and HUSLAB, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.09.017DOI Listing
May 2013

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

J Med Genet 2013 Mar 12;50(3):151-9. Epub 2013 Jan 12.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, r.C523B, Haartmaninkatu 8, Helsinki 00290, Finland.

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http://dx.doi.org/10.1136/jmedgenet-2012-101375DOI Listing
March 2013

Expression of multiple nebulin isoforms in human skeletal muscle and brain.

Muscle Nerve 2012 Nov 31;46(5):730-7. Epub 2012 Aug 31.

Department of Biosciences, Division of Genetics, PO Box 56, University of Helsinki, Helsinki FI-00014, Finland.

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http://dx.doi.org/10.1002/mus.23380DOI Listing
November 2012

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

Hum Mol Genet 2012 Oct 23;21(20):4521-9. Epub 2012 Jul 23.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland.

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http://dx.doi.org/10.1093/hmg/dds294DOI Listing
October 2012

Intracerebral hemorrhage in the oldest old: a population-based study (vantaa 85+).

Front Neurol 2012 28;3:103. Epub 2012 Jun 28.

Department of Pathology, Haartman Institute, University of Helsinki and HUSLAB Helsinki, Finland.

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http://dx.doi.org/10.3389/fneur.2012.00103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449495PMC
October 2012

Saccular intracranial aneurysm: pathology and mechanisms.

Acta Neuropathol 2012 Jun 17;123(6):773-86. Epub 2012 Jan 17.

Department of Neurosurgery, Helsinki University Central Hospital, Topeliuksenkatu 5, 00260 Helsinki, Finland.

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http://dx.doi.org/10.1007/s00401-011-0939-3DOI Listing
June 2012

Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia.

J Neurol Sci 2012 Apr 12;315(1-2):160-3. Epub 2011 Dec 12.

Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.jns.2011.11.028DOI Listing
April 2012

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Neuron 2011 Oct 21;72(2):257-68. Epub 2011 Sep 21.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200438PMC
October 2011

TAR-DNA binding protein-43 and alterations in the hippocampus.

J Neural Transm (Vienna) 2011 May 6;118(5):683-9. Epub 2011 Jan 6.

Department of Pathology, Kuopio University Hospital, Kuopio, Finland.

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http://dx.doi.org/10.1007/s00702-010-0574-5DOI Listing
May 2011

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

Neuromuscul Disord 2011 May 3;21(5):338-44. Epub 2011 Mar 3.

Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nmd.2011.02.008DOI Listing
May 2011

Cardiovascular diseases and hippocampal infarcts.

Hippocampus 2011 Mar;21(3):281-7

Department of Pathology, Kuopio University Hospital, Finland.

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http://dx.doi.org/10.1002/hipo.20747DOI Listing
March 2011

Matrix metalloproteinase-β19 expressed in cerebral amyloid angiopathy.

Amyloid 2011 Mar 25;18(1):3-9. Epub 2011 Jan 25.

Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.3109/13506129.2010.541960DOI Listing
March 2011

Lack of complement inhibitors in the outer intracranial artery aneurysm wall associates with complement terminal pathway activation.

Am J Pathol 2010 Dec 22;177(6):3224-32. Epub 2010 Oct 22.

Neurosurgery Research Group, Room B408a2, Biomedicum Helsinki 1, P.O. Box 700, FI-00029 Huch, Finland.

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http://dx.doi.org/10.2353/ajpath.2010.091172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2993312PMC
December 2010

Magnetoencephalographic Abnormalities in Creutzfeldt-Jakob Disease: A Case Report.

Case Rep Neurol 2010 Oct 11;2(3):122-127. Epub 2010 Oct 11.

BioMag Laboratory, HUSLAB, Helsinki, Finland.

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http://dx.doi.org/10.1159/000321349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992031PMC
October 2010

[Mitochondrial recessive ataxia syndrome (MIRAS) and valproate toxicity].

Duodecim 2010 ;126(13):1552-9

Helsingin yliopisto, Biomedicum, molekyylineurologian tutkimusohjelma.

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September 2010

Outcome of fractionated stereotactic radiotherapy in patients with pituitary adenomas resistant to conventional treatments: a 5.25-year follow-up study.

Clin Endocrinol (Oxf) 2010 Jul 18;73(1):72-7. Epub 2009 Dec 18.

Division of Endocrinology, Department of Medicine, University of Helsinki, Helsinki, Finland.

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July 2010

Neuropathologic findings of dementia with lewy bodies (DLB) in a population-based Vantaa 85+ study.

J Alzheimers Dis 2009 ;18(3):677-89

Department of Pathology, University of Helsinki, and Helsinki University Central Hospital, P.O. Box 21 (Haartmaninkatu 3), FI-00014 Helsinki, Finland.

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http://dx.doi.org/10.3233/JAD-2009-1169DOI Listing
June 2010

alpha-Synuclein pathology in the spinal cord autonomic nuclei associates with alpha-synuclein pathology in the brain: a population-based Vantaa 85+ study.

Acta Neuropathol 2010 Jun;119(6):715-22

Department of Pathology, Helsinki University Central Hospital,University of Helsinki, P.O. Box 21, Haartmaninkatu 3, 00014 Helsinki, Finland.

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http://link.springer.com/10.1007/s00401-009-0629-6
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June 2010

Brain neurons express ornithine decarboxylase-activating antizyme inhibitor 2 with accumulation in Alzheimer's disease.

Brain Pathol 2010 May 22;20(3):571-80. Epub 2009 Sep 22.

Department of Pathology, Haartman Institute, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1111/j.1750-3639.2009.00334.xDOI Listing
May 2010

Progressive Stroke-Like Symptoms in a Patient with Sporadic Creutzfeldt-Jakob Disease.

Case Rep Neurol 2010 Mar 12;2(1):12-18. Epub 2010 Mar 12.

Department of Neurology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1159/000289177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2914366PMC
March 2010

Ectopic recurrence of craniopharyngioma along the surgical route: case report and literature review.

Acta Neurochir (Wien) 2010 Feb 5;152(2):297-302; discussion 302. Epub 2009 Jun 5.

Department of Neurosurgery, Helsinki University Central Hospital, Topeliuksenkatu 5, Helsinki 00260, Finland.

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http://link.springer.com/10.1007/s00701-009-0415-1
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February 2010

Complement system becomes activated by the classical pathway in intracranial aneurysm walls.

Lab Invest 2010 Feb 7;90(2):168-79. Epub 2009 Dec 7.

Neurosurgery Research Group, Biomedicum Helsinki, Helsinki, Huch FI-00029, Finland.

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http://dx.doi.org/10.1038/labinvest.2009.133DOI Listing
February 2010

Neuronal caspase-3 and PARP-1 correlate differentially with apoptosis and necrosis in ischemic human stroke.

Acta Neuropathol 2009 Oct 16;118(4):541-52. Epub 2009 Jun 16.

Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.

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October 2009

Toxoplasmosis in immunocompromized patients.

Scand J Infect Dis 2009 ;41(5):368-71

Centre for Microbiological Preparedness, Swedish Institute for Infectious Disease Control, Solna, Sweden.

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http://dx.doi.org/10.1080/00365540902783319DOI Listing
July 2009

A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.

Muscle Nerve 2009 Jul;40(1):143-8

Department of Neurology, Helsinki University Central Hospital, P.O. Box 340, Helsinki 00029, Finland.

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http://dx.doi.org/10.1002/mus.21291DOI Listing
July 2009

Recessive twinkle mutations cause severe epileptic encephalopathy.

Brain 2009 Jun 20;132(Pt 6):1553-62. Epub 2009 Mar 20.

Division of Child Neurology, Helsinki University Central Hospital, Helsinki, Finland.

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June 2009

Severe ataxia with neuropathy in hereditary gelsolin amyloidosis.

Amyloid 2009 Jun 25:1-7. Epub 2009 Jun 25.

Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1080/13506120701223149DOI Listing
June 2009

Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo.

Mol Brain 2009 Feb 9;2. Epub 2009 Feb 9.

Center for Neurologic Diseases, Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1186/1756-6606-2-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2644690PMC
February 2009

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.

Brain 2008 Nov 26;131(Pt 11):2841-50. Epub 2008 Sep 26.

Research Programme of Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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November 2008

Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein.

Ann Neurol 2008 Sep;64(3):348-52

Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ana.21446DOI Listing
September 2008

Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.

J Neuropathol Exp Neurol 2008 Aug;67(8):750-62

Department of Pathology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1097/NEN.0b013e318180ec2eDOI Listing
August 2008

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

Brain 2007 Nov 5;130(Pt 11):3032-40. Epub 2007 Oct 5.

Research Program of Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Finland.

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http://dx.doi.org/10.1093/brain/awm242DOI Listing
November 2007

Distal myopathy caused by homozygous missense mutations in the nebulin gene.

Brain 2007 Jun;130(Pt 6):1465-76

Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1093/brain/awm094DOI Listing
June 2007