Anna-Elina Lehesjoki

Anna-Elina Lehesjoki

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Anna-Elina Lehesjoki

Anna-Elina Lehesjoki

Publications by authors named "Anna-Elina Lehesjoki"

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A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.

Eur J Med Genet 2019 Sep 16:103766. Epub 2019 Sep 16.

Folkhälsan Research Center, Helsinki, Finland; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103766DOI Listing
September 2019

Kufs or not Kufs: challenging diagnostics of a rare adult-onset neurodegenerative disease.

Brain 2019 01;142(1):2-5

Medicum, University of Helsinki and Folkhälsan Research Center, Helsinki, Finland.

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http://dx.doi.org/10.1093/brain/awy312DOI Listing
January 2019

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

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http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

Brain 2017 08;140(8):e50

The Folkhälsan Institute of Genetics, Haartmaninkatu 8, 00290 Helsinki, Finland.

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http://dx.doi.org/10.1093/brain/awx157DOI Listing
August 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A.

Epileptic Disord 2017 Jun;19(2):147-151

Istanbul University, Cerrahpasa School of Medicine, Department of Neurology, Istanbul.

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http://dx.doi.org/10.1684/epd.2017.0911DOI Listing
June 2017

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

Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study.

Epilepsia 2016 Oct 30;57(10):1594-1601. Epub 2016 Aug 30.

Folkhälsan Institute of Genetics, Helsinki, Finland.

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http://dx.doi.org/10.1111/epi.13514DOI Listing
October 2016

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults.

J Bone Miner Res 2016 09 25;31(9):1734-42. Epub 2016 Apr 25.

Folkhälsan Institute of Genetics and University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/jbmr.2841DOI Listing
September 2016

Progressive myoclonus epilepsy associated with SACS gene mutations.

Neurol Genet 2016 Aug 23;2(4):e83. Epub 2016 Jun 23.

Division of Neurology (F.A.N., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; Department of Neurophysiopathology (L.C., S.F.), Epilepsy Center, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy; Department of Neurology (D.A.), King Fahad Hospital of University, University of Dammam, Saudi Arabia; Folkhälsan Institute of Genetics (M.M., A.-E.L.), Helsinki, Finland; Research Programs Unit (M.M., A.-E.L.), Molecular Neurology and Neuroscience Center, Institute for Molecular Medicine Finland (M.M.), University of Helsinki, Finland; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936476PMC
August 2016

BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma.

Ophthalmology 2016 05 12;123(5):1112-7. Epub 2016 Feb 12.

Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.ophtha.2016.01.008DOI Listing
May 2016

Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism.

Biol Open 2016 May 15;5(5):584-95. Epub 2016 May 15.

Folkhälsan Institute of Genetics, FI-00290 Helsinki, Finland Research Programs Unit, Molecular Neurology, University of Helsinki, FI-00290 Helsinki, Finland Neuroscience Center, University of Helsinki, FI-00790 Helsinki, Finland

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http://dx.doi.org/10.1242/bio.016246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4874348PMC
May 2016

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

Neurol Genet 2016 Feb 21;2(1):e46. Epub 2016 Jan 21.

Institute for Molecular Medicine Finland (M.M., A.P.), Neuroscience Center (M.M., A.L., A.-E.L.), and Research Programs Unit, Molecular Neurology (M.M., A.-K.A., A.L., A.-E.L.), University of Helsinki, Finland; Folkhälsan Institute of Genetics (M.M., A.-K.A., A.L., A.-E.L.), Helsinki, Finland; Division of Membrane Physiology (Y.F., M.F.), Department of Cell Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Japan; Department of Physiological Sciences (Y.F., M.F.), School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki, Japan; Medical and Clinical Genetics (A.-K.A.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Analytic and Translational Genetics Unit (A.P.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Program in Medical and Population Genetics (A.P.) and Stanley Center for Psychiatric Research (A.P.), Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA; Program in Genetics and Genomics (A.P.), Biological and Biomedical Sciences, Harvard Medical School, Boston, MA; Wellcome Trust Sanger Institute (A.P.), Wellcome Trust Genome Campus, Hinxton, United Kingdom; Psychiatric & Neurodevelopmental Genetics Unit (A.P.), Department of Psychiatry, and Department of Neurology (A.P.), Massachusetts General Hospital, Boston, MA; Department of Pediatric Neurology (H.P., T.L.), Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Radiology (L.V.), HUS Medical Imaging Center, Helsinki, Finland; and Family Federation of Finland (M.S.), Helsinki, Finland.

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http://dx.doi.org/10.1212/NXG.0000000000000046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817901PMC
February 2016

Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy.

Bone Rep 2015 Dec 6;3:76-82. Epub 2015 Nov 6.

Folkhälsan Institute of Genetics, 00290 Helsinki, Finland; Research Program's Unit, Molecular Neurology, University of Helsinki, 00014 Helsinki, Finland; Neuroscience Center, University of Helsinki, 00014 Helsinki, Finland.

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http://dx.doi.org/10.1016/j.bonr.2015.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5365244PMC
December 2015

Investigation of GRIN2A in common epilepsy phenotypes.

Epilepsy Res 2015 Sep 2;115:95-9. Epub 2015 Jun 2.

Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2015.05.010DOI Listing
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
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http://dx.doi.org/10.1212/WNL.0000000000001787DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520820PMC
July 2015

Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study.

Neurology 2015 Apr 13;84(15):1529-36. Epub 2015 Mar 13.

From Neurocenter (J.H., M.Ä., R.K.) and the Department of Clinical Neurophysiology (J.H., P.J., N.D., E.M.), Kuopio Epilepsy Center, and the Department of Clinical Radiology (P.K., R.V.), Kuopio University Hospital; Neuroscience Center and Research Programs Unit (T.J., A.-E.L.), Molecular Neurology, University of Helsinki; Folkhälsan Institute of Genetics (T.J., A.-E.L.), Helsinki; and the Institute of Clinical Medicine (N.D., R.V., E.M., R.K.), School of Medicine, Faculty of Health Sciences, University of Eastern Finland, Kuopio, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000001466DOI Listing
April 2015

A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis.

J Bone Miner Res 2015 Mar;30(3):510-8

Folkhälsan Institute of Genetics, Helsinki, Finland; Department of Endocrinology, Institute of Medicine, Sahlgrenska University Hospital and University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1002/jbmr.2355DOI Listing
March 2015

Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1.

Glia 2015 Mar 18;63(3):400-11. Epub 2014 Oct 18.

Folkhälsan Institute of Genetics, Haartmaninkatu 8, 00014, Helsinki, Finland; Haartman Institute, Department of Medical Genetics and Research Program's Unit, Molecular Neurology, University of Helsinki, Haartmaninkatu 8, 00014, Helsinki, Finland; Neuroscience Center, University of Helsinki, Viikinkaari 4, 00014, Helsinki, Finland.

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http://dx.doi.org/10.1002/glia.22760DOI Listing
March 2015

Progressive volume loss and white matter degeneration in cstb-deficient mice: a diffusion tensor and longitudinal volumetry MRI study.

PLoS One 2014 6;9(6):e90709. Epub 2014 Mar 6.

Folkhälsan Institute of Genetics, Helsinki, Finland; Department of Medical Genetics and Research Program's Unit Haartman Institute, University of Helsinki, Helsinki, Finland; Neuroscience Center, University of Helsinki, Helsinki, Finland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0090709PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3948351PMC
February 2015

Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation.

PLoS One 2014 27;9(2):e89321. Epub 2014 Feb 27.

Folkhälsan Institute of Genetics, Helsinki, Finland ; Department of Medical Genetics, Haartman Institute and Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland ; Neuroscience Center, University of Helsinki, Helsinki, Finland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0089321PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937333PMC
October 2014

Leukoencephalopathy, cerebral calcifications and cysts: a family study.

J Neurol 2014 Oct 18;261(10):1911-6. Epub 2014 Jul 18.

Department of Radiology and Oncotherapy, Semmelweis University, Budapest, Hungary.

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http://dx.doi.org/10.1007/s00415-014-7393-9DOI Listing
October 2014

White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice.

Radiology 2013 Oct 20;269(1):232-9. Epub 2013 Jun 20.

Folkhälsan Institute of Genetics, Helsinki, Finland; Haartman Institute, Department of Medical Genetics and Research Program's Unit, Molecular Medicine, Neuroscience Center, and Haartman Institute, Department of Pathology, University of Helsinki, Helsinki, Finland; Departments of Clinical Radiology, Clinical Neurophysiology, and Neurology, Kuopio University Hospital, PO Box 1777, 70211 Kuopio, Finland; A. I. Virtanen Institute for Molecular Sciences, Department of Neurobiology, and Institute of Clinical Medicine, School of Medicine, Departments of Neurology and Clinical Radiology, University of Eastern Finland, Kuopio, Finland.

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http://dx.doi.org/10.1148/radiol.13122458DOI Listing
October 2013

Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.

Epilepsia 2013 Sep 28;54(9):1577-85. Epub 2013 Jun 28.

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

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http://dx.doi.org/10.1111/epi.12256DOI Listing
September 2013

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Hum Mol Genet 2012 Dec 4;21(24):5359-72. Epub 2012 Sep 4.

Institute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany.

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http://hmg.oxfordjournals.org/content/21/24/5359.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds373
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http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice.

Neurobiol Dis 2012 Sep 5;47(3):444-57. Epub 2012 May 5.

Folkhälsan Institute of Genetics, Haartmaninkatu 8, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nbd.2012.04.018DOI Listing
September 2012

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Hum Mutat 2012 Jan 16;33(1):42-63. Epub 2011 Nov 16.

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

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http://dx.doi.org/10.1002/humu.21624DOI Listing
January 2012

Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1.

J Neuropathol Exp Neurol 2012 Jan;71(1):40-53

Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1097/NEN.0b013e31823e68e1DOI Listing
January 2012

Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.

Neurodegener Dis 2011 15;8(6):515-22. Epub 2011 Jul 15.

Department of Clinical Radiology, Kuopio University Hospital and University of Eastern Finland, Kuopio, Finland.

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http://dx.doi.org/10.1159/000323470DOI Listing
December 2011

Deficient mitochondrial Ca(2+) buffering in the Cln8(mnd) mouse model of neuronal ceroid lipofuscinosis.

Cell Calcium 2011 Dec 13;50(6):491-501. Epub 2011 Sep 13.

Neuroscience Center, University of Helsinki, Finland.

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http://dx.doi.org/10.1016/j.ceca.2011.08.004DOI Listing
December 2011

Primary motor cortex alterations in a compound heterozygous form of Unverricht-Lundborg disease (EPM1).

Seizure 2011 Jan 12;20(1):65-71. Epub 2010 Nov 12.

Department of Clinical Neurophysiology, Institute of Clinical Medicine, School of Medicine, University of Eastern Finland and Kuopio University Hospital, POB 1777, FIN-70211 Kuopio, Finland.

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http://dx.doi.org/10.1016/j.seizure.2010.10.010DOI Listing
January 2011

[Finnish disease heritage].

Duodecim 2010 ;126(19):2311-20

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December 2010

Low-density lipoprotein receptor-related protein 5 (LRP5) variation in fracture prone children.

Bone 2010 Apr 4;46(4):940-5. Epub 2010 Jan 4.

Folkhälsan Institute of Genetics, Helsinki, Finland; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.bone.2009.12.022DOI Listing
April 2010

[Current prospects of genetics in epilepsy diagnostics--when and what?].

Duodecim 2009 ;125(22):2521-30

lasten ja nuorten klinikka, lastenneurologian yksikkö ja Kliinisen tutkimuksen keskus, Oulun yliopistollinen sairaala.

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March 2010

Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis.

Neurobiol Dis 2009 Dec 15;36(3):488-93. Epub 2009 Sep 15.

Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nbd.2009.09.001DOI Listing
December 2009

Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1).

Epilepsy Res 2009 Jul 24;85(1):81-8. Epub 2009 Mar 24.

Department of Clinical Neurophysiology, Kuopio University Hospital and University of Kuopio, POB 1777, Kuopio FI 70211, Finland.

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http://dx.doi.org/10.1016/j.eplepsyres.2009.02.015DOI Listing
July 2009

Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas.

Mod Pathol 2009 Apr 27;22(4):570-8. Epub 2009 Mar 27.

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

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http://dx.doi.org/10.1038/modpathol.2009.13DOI Listing
April 2009

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

Brain 2009 Mar 5;132(Pt 3):810-9. Epub 2009 Feb 5.

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

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http://dx.doi.org/10.1093/brain/awn366DOI Listing
March 2009

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).

Acta Neuropathol 2009 Feb 2;117(2):201-8. Epub 2008 Sep 2.

Department of Pathology and Laboratory Medicine, UNC-Chapel Hill, Chapel Hill, NC 27514, USA.

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http://dx.doi.org/10.1007/s00401-008-0426-7DOI Listing
February 2009

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.

Eur J Hum Genet 2008 Aug 20;16(8):961-9. Epub 2008 Feb 20.

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

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http://dx.doi.org/10.1038/ejhg.2008.22DOI Listing
August 2008

Molecular background of EPM1-Unverricht-Lundborg disease.

Epilepsia 2008 Apr 19;49(4):557-63. Epub 2007 Nov 19.

Folkhälsan Institute of Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Finland.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01422.xDOI Listing
April 2008

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

Am J Hum Genet 2007 Jul 14;81(1):136-46. Epub 2007 May 14.

Folkhälsan Institute of Genetics, Biomedicum Helsinki, P.O. Box 63 (Haartmaninkatu 8), 00014 University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1086/518902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950917PMC
July 2007

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.

Mol Membr Biol 2007 Jan-Feb;24(1):74-87

Department of Biochemistry, University Hospital Hamburg Eppendorf, Children's Hospital, Hamburg, Germany.

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http://www.tandfonline.com/doi/full/10.1080/0968786060096731
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http://dx.doi.org/10.1080/09687860600967317DOI Listing
May 2007

The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.

Bone 2007 Apr 12;40(4):1006-12. Epub 2007 Jan 12.

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

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http://dx.doi.org/10.1016/j.bone.2006.11.010DOI Listing
April 2007

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.

Eur J Hum Genet 2007 Feb 27;15(2):185-93. Epub 2006 Sep 27.

Department of Medical Genetics and Neuroscience Center, Folkhälsan Institute of Genetics, Biomedicum Helsinki, University of Helsinki, Finland.

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http://dx.doi.org/10.1038/sj.ejhg.5201723DOI Listing
February 2007

Molecular genetics of the NCLs -- status and perspectives.

Biochim Biophys Acta 2006 Oct 27;1762(10):857-64. Epub 2006 May 27.

Folkhälsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Finland.

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http://dx.doi.org/10.1016/j.bbadis.2006.05.006DOI Listing
October 2006

Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues.

Histochem Cell Biol 2006 Sep 3;126(3):325-34. Epub 2006 Mar 3.

Folkhälsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, P.O.Box 63, 00014, Helsinki, Finland.

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http://dx.doi.org/10.1007/s00418-006-0162-9DOI Listing
September 2006

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.

Brain 2006 Jun 2;129(Pt 6):1438-45. Epub 2006 May 2.

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

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http://brain.oxfordjournals.org/content/brain/129/6/1438.ful
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awl107DOI Listing
June 2006

Evaluation of CACNA1H in European patients with childhood absence epilepsy.

Epilepsy Res 2006 May 28;69(2):177-81. Epub 2006 Feb 28.

Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, The Rayne Building, 5 University Street, London WC1E 6JJ, UK.

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http://dx.doi.org/10.1016/j.eplepsyres.2006.01.009DOI Listing
May 2006

Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study.

J Neurol 2006 Mar 15;253(3):301-6. Epub 2005 Sep 15.

Dept. of Neurology, Pietasaari Hospital PL 23, 68601 Pietasaari, Finland.

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http://dx.doi.org/10.1007/s00415-005-0983-9DOI Listing
March 2006

Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing.

Gene 2006 Jan 28;366(1):180-8. Epub 2005 Nov 28.

Folkhälsan Institute of Genetics, Neuroscience Center and Department of Medical Genetics, Biomedicum Helsinki, P.O. Box 63 (Haartmaninkatu 8), 00014, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.gene.2005.08.008DOI Listing
January 2006

Insulin resistance syndrome in subjects with mutated RING finger protein TRIM37.

Diabetes 2005 Dec;54(12):3577-81

Hospital for Children and Adolescents, Biomedicum Helsinki, University of Helsinki, 00029 HUS, Finland.

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http://dx.doi.org/10.2337/diabetes.54.12.3577DOI Listing
December 2005

TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase.

Exp Cell Res 2005 Aug;308(1):146-55

Folkhälsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, 00014 University of Helsinki, Finland.

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http://linkinghub.elsevier.com/retrieve/pii/S001448270500165
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http://dx.doi.org/10.1016/j.yexcr.2005.04.001DOI Listing
August 2005

Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.

Eur J Hum Genet 2005 Apr;13(4):435-9

Folkhälsan Institute of Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/sj.ejhg.5201355DOI Listing
April 2005

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.

Eur J Hum Genet 2005 Feb;13(2):208-15

Folkhälsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, 00014 University of Helsinki, Finland.

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http://dx.doi.org/10.1038/sj.ejhg.5201300DOI Listing
February 2005