Mari Auranen

Mari Auranen

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Mari Auranen

Mari Auranen

Publications by authors named "Mari Auranen"

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35Publications

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Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions.

Cell Metab 2019 Dec 12;30(6):1040-1054.e7. Epub 2019 Sep 12.

Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland; Department of Neurosciences, Helsinki University Central Hospital, 00290 Helsinki, Finland; Neuroscience Center, University of Helsinki, 00290 Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2019.08.019DOI Listing
December 2019

Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy.

Muscle Nerve 2019 03 4;59(3):354-357. Epub 2018 Dec 4.

Department of Neurology, Tampere University Hospital and Faculty of Medical and Life Sciences, University of Tampere, Tampere, Finland.

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http://dx.doi.org/10.1002/mus.26348DOI Listing
March 2019

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.

Neurol Genet 2018 Jun 5;4(3):e244. Epub 2018 Jun 5.

Research Programs Unit (M.T.S., E.Y., L.M., M.A., H.T.), Molecular Neurology, University of Helsinki; Clinical Neurosciences, Neurology (E.Y., M.A.), University of Helsinki and Helsinki University Hospital; Institute for Molecular Medicine Finland (FIMM) (J.L., P.M.), University of Helsinki; Neuromuscular Research Center (J.P.), Tampere University Hospital and University of Tampere; and Department of Medical and Clinical Genetics (H.T.), University of Helsinki, Finland.

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http://dx.doi.org/10.1212/NXG.0000000000000244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991776PMC
June 2018

Focal atrophy of the unilateral masticatory muscles caused by pure trigeminal motor neuropathy: case report.

Clin Case Rep 2018 May 30;6(5):939-943. Epub 2018 Mar 30.

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

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http://dx.doi.org/10.1002/ccr3.1495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930203PMC
May 2018

Myotonia in ion channel diseases of muscle.

Duodecim 2016;132(19):1810-4

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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

mutations and motor neuron disease: the distribution in Finnish patients.

J Neurol Neurosurg Psychiatry 2017 03 3;88(3):272-277. Epub 2016 Nov 3.

Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland.

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http://dx.doi.org/10.1136/jnnp-2016-314154DOI Listing
March 2017

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders.

Neurology 2016 Nov 28;87(22):2290-2299. Epub 2016 Oct 28.

From the Research Programs Unit, Molecular Neurology (J.M.L., S.F., H.L., M.A., P.I.), Faculty of Medicine/Clinicum, Oncology (P.O.), and Finland Genome Scale Biology Program (S.L.), University of Helsinki, Finland; Mitochondrial Medicine Group (E.B., C.V., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, UK; Center for Physiology and Pathophysiology (O.R.B., R.J.W.), Institute of Vegetative Physiology, University of Köln, Germany; Transplantation and Liver Surgery Clinic (H.I., K.H.), Department of Oncology (P.O., S.L.), and Heart and Lung Center, Department of Cardiology (T.H.), Helsinki University Hospital; School of Medicine (M.H., J.J., R.L.), University of Tampere; Anaesthesiology, Intensive Care and Pain Medicine (R.M.), Clinical Neurosciences, Neurology (H.L., M.A., A.S.), and Child Neurology, Children's Hospital (P.I.), University of Helsinki and Helsinki University Hospital, Finland; Dyslipidemia Center (G.M.), Cardiotoracovascular Department, Niguarda Hospital, Milan, Italy; PEDEGO Research Unit (J.U.) and Biocenter Oulu (J.U.), University of Oulu; Finnish Clinical Biobank Tampere (R.L.), Tampere University Hospital, Finland; Nijmegen Centre for Mitochondrial Disorders (J.S.), Radboud University Medical Centre, Nijmegen, the Netherlands; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) (R.J.W.), Köln; Center for Molecular Medicine Cologne (R.J.W.), CMMC, University of Köln, Germany; Faculty of Life and Environmental Sciences (K.N.), University of Tsukuba, Japan; and Medical Research Center Oulu (J.U.), Oulu University Hospital and University of Oulu, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000003374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5270510PMC
November 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

Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

Mol Biol Cell 2016 07 25;27(14):2172-85. Epub 2016 May 25.

Anatomy and Cell Biology, University of Western Ontario, London, ON N6A 5C1, Canada Physiology and Pharmacology, University of Western Ontario, London, ON N6A 5C1, Canada

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http://dx.doi.org/10.1091/mbc.E16-01-0062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4945137PMC
July 2016

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.

Front Neurol 2016 30;7:82. Epub 2016 May 30.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland; Clinical Neurosciences, Neurology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.3389/fneur.2016.00082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4885106PMC
June 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

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

Neuromuscul Disord 2015 Nov 27;25(11):835-42. Epub 2015 Jul 27.

Department of Neurology, Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, FIN-33014, Finland; Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

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http://dx.doi.org/10.1016/j.nmd.2015.07.014DOI Listing
November 2015

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

Eur J Hum Genet 2015 Oct 14;23(10):1427-30. Epub 2015 Jan 14.

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

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http://www.nature.com/articles/ejhg2014297
Publisher Site
http://dx.doi.org/10.1038/ejhg.2014.297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592090PMC
October 2015

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.

BBA Clin 2015 Jun 11;3:233-42. Epub 2015 Mar 11.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki 00290, Finland ; Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki 00290, Finland.

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http://dx.doi.org/10.1016/j.bbacli.2015.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4661565PMC
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

Screening for late-onset Pompe disease in Finland.

Neuromuscul Disord 2014 Nov 28;24(11):982-5. Epub 2014 Jun 28.

Neuromuscular Research Center, Tampere University Hospital and University of Tampere, Tampere, Finland; Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland; Neurology Department, Vaasa Central Hospital, Vaasa, Finland.

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http://dx.doi.org/10.1016/j.nmd.2014.06.438DOI Listing
November 2014

Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3.

EMBO Mol Med 2014 Jun;6(6):721-31

Molecular Neurology, Research Programs Unit, University of Helsinki, Helsinki, Finland Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland Neuroscience Research Centre University of Helsinki, Helsinki, Finland

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http://dx.doi.org/10.1002/emmm.201403943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203351PMC
June 2014

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

Eur J Hum Genet 2014 Apr 21;22(4):522-7. Epub 2013 Aug 21.

1] Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland [2] Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2013.190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953916PMC
April 2014

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

Neurogenetics 2013 May 3;14(2):123-32. Epub 2013 Mar 3.

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

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http://dx.doi.org/10.1007/s10048-013-0358-9DOI Listing
May 2013

[Not Available].

Duodecim 2006 ;122(17):2130-6

Laboratoriokeskus, patologian laboratorio, Tampere.

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April 2008

Pitt-Hopkins syndrome in two patients and further definition of the phenotype.

Clin Dysmorphol 2006 Apr;15(2):47-54

Department of Medical Genetics, The Family Federation of Finland, Helsinki, Finland.

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http://dx.doi.org/10.1097/01.mcd.0000184973.14775.32DOI Listing
April 2006

Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families.

Ann Neurol 2006 Jan;59(1):145-55

Department of Molecular Medicine, National Public Health Institute, University of Helsinki, 00251 Helsinki, Finland.

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http://dx.doi.org/10.1002/ana.20722DOI Listing
January 2006

A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27.

Am J Hum Genet 2002 Oct 21;71(4):777-90. Epub 2002 Aug 21.

Department of Molecular Medicine, National Public Health Institute, University of Helsinki, Finland.

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http://dx.doi.org/10.1086/342720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC378535PMC
October 2002