Peter M Andersen

Peter M Andersen

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Peter M Andersen

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Targeted Multiple Reaction Monitoring Analysis of CSF Identifies UCHL1 and GPNMB as Candidate Biomarkers for ALS.

J Mol Neurosci 2019 Dec 12;69(4):643-657. Epub 2019 Nov 12.

Department of Clinical Science, Neurosciences, Umeå University, Building 10, NUS, Umeå, Sweden.

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http://dx.doi.org/10.1007/s12031-019-01411-yDOI Listing
December 2019

Neurofilaments in pre-symptomatic ALS and the impact of genotype.

Amyotroph Lateral Scler Frontotemporal Degener 2019 Nov 21;20(7-8):538-548. Epub 2019 Aug 21.

Neuroscience Center, Blizard, Institute of Cell and Molecular Medicine, Barts & the London School of Medicine & Dentistry , London , UK.

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http://dx.doi.org/10.1080/21678421.2019.1646769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6768722PMC
November 2019

An observational study on quality of life and preferences to sustain life in locked-in state.

Neurology 2019 Sep 7;93(10):e938-e945. Epub 2019 Aug 7.

From the Department of Neurology (M.K.-K., K.C.) and Neurodegenerative Diseases Research Group (M.K.-K.), Medical University of Warsaw, Poland; Institute of Pharmacology and Clinical Neuroscience (P.M.A.), Umeå University, Sweden; and Department of Neurology (C.V., O.H., M.L., I.U., A.C.L., D.L.), University of Ulm, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000008064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745736PMC
September 2019

Phenotype in an Infant with Homozygous Truncating Mutation.

N Engl J Med 2019 08 17;381(5):486-488. Epub 2019 Jul 17.

University Medical Center Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1056/NEJMc1905039DOI Listing
August 2019

expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis.

J Neurol Neurosurg Psychiatry 2019 Jan 16;90(1):118-120. Epub 2018 Apr 16.

Physiology Institute, Faculty of Medicine, Instituto de Medicina Molecular, University of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.1136/jnnp-2018-318032DOI Listing
January 2019

A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms.

Neurobiol Aging 2018 12 24;72:189.e11-189.e17. Epub 2018 Aug 24.

ALS Centre, "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, S.C. Neurologia 2 U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy; Institute of Cognitive Sciences and Technologies, C.N.R, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183030
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.08.014DOI Listing
December 2018

The Swedish motor neuron disease quality registry.

Amyotroph Lateral Scler Frontotemporal Degener 2018 11 9;19(7-8):528-537. Epub 2018 Oct 9.

b Department of Neurology , Karolinska University Hospital , Stockholm , Sweden.

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https://www.tandfonline.com/doi/full/10.1080/21678421.2018.1
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http://dx.doi.org/10.1080/21678421.2018.1497065DOI Listing
November 2018

Frequency of C9orf72 hexanucleotide repeat expansion and SOD1 mutations in Portuguese patients with amyotrophic lateral sclerosis.

Neurobiol Aging 2018 10 14;70:325.e7-325.e15. Epub 2018 May 14.

Instituto de Medicina Molecular and Institute of Physiology, Faculdade de Medicina, Universidade de Lisboa, Avenida Professor Egas Moniz, Lisbon, Portugal; Department of Neurosciences and Mental Health, Hospital de Santa Maria-CHLN, Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.05.009DOI Listing
October 2018

Misfolded SOD1 pathology in sporadic Amyotrophic Lateral Sclerosis.

Sci Rep 2018 09 21;8(1):14223. Epub 2018 Sep 21.

Laval University Experimental Organogenesis Research Center/LOEX, Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital, Québec, Canada.

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http://dx.doi.org/10.1038/s41598-018-31773-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6155098PMC
September 2018

Neurofilament light: A candidate biomarker of presymptomatic amyotrophic lateral sclerosis and phenoconversion.

Ann Neurol 2018 07 16;84(1):130-139. Epub 2018 Aug 16.

Neuroscience Center, Blizard, Institute of Cell and Molecular Medicine, Barts & the London School of Medicine & Dentistry, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.25276DOI Listing
July 2018

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis.

Med Genet 2018 13;30(2):252-258. Epub 2018 Jul 13.

1Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, Germany.

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http://dx.doi.org/10.1007/s11825-018-0185-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132774PMC
July 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Randomized, double-blind, placebo-controlled trial of arimoclomol in rapidly progressive ALS.

Neurology 2018 02 24;90(7):e565-e574. Epub 2018 Jan 24.

From the Department of Neurology (M.B., J.W.), University of Miami, FL; Department of Pharmacology and Clinical Neuroscience (P.M.A.), Umeå University, Sweden; Department of Neurology (N.A., W.D., M.C.), Massachusetts General Hospital (D.S.), Harvard Medical School; and Department of Biostatistics (D.S.), Harvard Chan School of Public Health, Boston, MA.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004960DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818014PMC
February 2018

Existential decision-making in a fatal progressive disease: how much do legal and medical frameworks matter?

BMC Palliat Care 2017 Dec 28;16(1):80. Epub 2017 Dec 28.

Department of Learning, Informatics, Management and Ethics, Karolinska Institute, Stockholm, Tomtebodavägen 18, 171 77, Solna, Sweden.

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http://dx.doi.org/10.1186/s12904-017-0252-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5745921PMC
December 2017

A 50 bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden.

Amyotroph Lateral Scler Frontotemporal Degener 2016 Jul-Aug;17(5-6):452-7. Epub 2016 Mar 22.

a Departments of Pharmacology and Clinical Neuroscience .

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http://dx.doi.org/10.3109/21678421.2016.1159223DOI Listing
October 2017

Instability of C154Y variant of aldo-keto reductase 1C3.

Chem Biol Interact 2017 Oct 23;276:194-202. Epub 2016 Dec 23.

Laboratory of Biochemistry, Gifu Pharmaceutical University, Gifu 501-1196, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S00092797163075
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http://dx.doi.org/10.1016/j.cbi.2016.12.018DOI Listing
October 2017

Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives.

Amyotroph Lateral Scler Frontotemporal Degener 2017 08 21;18(5-6):457-463. Epub 2017 Mar 21.

a Department of Pharmacology and Clinical Neurosciences , Umeå University , Umeå , Sweden.

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http://dx.doi.org/10.1080/21678421.2017.1301481DOI Listing
August 2017

Is all ALS genetic?

Authors:
Peter M Andersen

Neurology 2017 07 22;89(3):220-221. Epub 2017 Jun 22.

From the Department of Pharmacology and Clinical Neuroscience, Umeå University, Sweden.

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http://dx.doi.org/10.1212/WNL.0000000000004127DOI Listing
July 2017

Impact of Amyotrophic Lateral Sclerosis on Slow Tonic Myofiber Composition in Human Extraocular Muscles.

Invest Ophthalmol Vis Sci 2017 07;58(9):3708-3715

Department of Integrative Medical Biology, Umeå University, Umeå, Sweden 2Department of Clinical Science, Ophthalmology, Umeå University, Umeå, Sweden 3Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden 4Department of Medical Biosciences, Umeå University, Umeå, Sweden.

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http://dx.doi.org/10.1167/iovs.17-22098DOI Listing
July 2017

Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden.

Amyotroph Lateral Scler Frontotemporal Degener 2017 05 31;18(3-4):302-304. Epub 2017 Jan 31.

b Department of Neurology , University of Massachusetts Medical School , Worcester , MA , USA.

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http://dx.doi.org/10.1080/21678421.2017.1280509DOI Listing
May 2017

Association of Mutations in TBK1 With Sporadic and Familial Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

JAMA Neurol 2017 Jan;74(1):110-113

Department of Neurology, Ulm University, Ulm, Germany2Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden.

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http://dx.doi.org/10.1001/jamaneurol.2016.3712DOI Listing
January 2017

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Nat Genet 2016 09 25;48(9):1037-42. Epub 2016 Jul 25.

Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560030PMC
September 2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Authors:
Wouter van Rheenen Aleksey Shatunov Annelot M Dekker Russell L McLaughlin Frank P Diekstra Sara L Pulit Rick A A van der Spek Urmo Võsa Simone de Jong Matthew R Robinson Jian Yang Isabella Fogh Perry Tc van Doormaal Gijs H P Tazelaar Max Koppers Anna M Blokhuis William Sproviero Ashley R Jones Kevin P Kenna Kristel R van Eijk Oliver Harschnitz Raymond D Schellevis William J Brands Jelena Medic Androniki Menelaou Alice Vajda Nicola Ticozzi Kuang Lin Boris Rogelj Katarina Vrabec Metka Ravnik-Glavač Blaž Koritnik Janez Zidar Lea Leonardis Leja Dolenc Grošelj Stéphanie Millecamps François Salachas Vincent Meininger Mamede de Carvalho Susana Pinto Jesus S Mora Ricardo Rojas-García Meraida Polak Siddharthan Chandran Shuna Colville Robert Swingler Karen E Morrison Pamela J Shaw John Hardy Richard W Orrell Alan Pittman Katie Sidle Pietro Fratta Andrea Malaspina Simon Topp Susanne Petri Susanne Abdulla Carsten Drepper Michael Sendtner Thomas Meyer Roel A Ophoff Kim A Staats Martina Wiedau-Pazos Catherine Lomen-Hoerth Vivianna M Van Deerlin John Q Trojanowski Lauren Elman Leo McCluskey A Nazli Basak Ceren Tunca Hamid Hamzeiy Yesim Parman Thomas Meitinger Peter Lichtner Milena Radivojkov-Blagojevic Christian R Andres Cindy Maurel Gilbert Bensimon Bernhard Landwehrmeyer Alexis Brice Christine A M Payan Safaa Saker-Delye Alexandra Dürr Nicholas W Wood Lukas Tittmann Wolfgang Lieb Andre Franke Marcella Rietschel Sven Cichon Markus M Nöthen Philippe Amouyel Christophe Tzourio Jean-François Dartigues Andre G Uitterlinden Fernando Rivadeneira Karol Estrada Albert Hofman Charles Curtis Hylke M Blauw Anneke J van der Kooi Marianne de Visser An Goris Markus Weber Christopher E Shaw Bradley N Smith Orietta Pansarasa Cristina Cereda Roberto Del Bo Giacomo P Comi Sandra D'Alfonso Cinzia Bertolin Gianni Sorarù Letizia Mazzini Viviana Pensato Cinzia Gellera Cinzia Tiloca Antonia Ratti Andrea Calvo Cristina Moglia Maura Brunetti Simona Arcuti Rosa Capozzo Chiara Zecca Christian Lunetta Silvana Penco Nilo Riva Alessandro Padovani Massimiliano Filosto Bernard Muller Robbert Jan Stuit Ian Blair Katharine Zhang Emily P McCann Jennifer A Fifita Garth A Nicholson Dominic B Rowe Roger Pamphlett Matthew C Kiernan Julian Grosskreutz Otto W Witte Thomas Ringer Tino Prell Beatrice Stubendorff Ingo Kurth Christian A Hübner P Nigel Leigh Federico Casale Adriano Chio Ettore Beghi Elisabetta Pupillo Rosanna Tortelli Giancarlo Logroscino John Powell Albert C Ludolph Jochen H Weishaupt Wim Robberecht Philip Van Damme Lude Franke Tune H Pers Robert H Brown Jonathan D Glass John E Landers Orla Hardiman Peter M Andersen Philippe Corcia Patrick Vourc'h Vincenzo Silani Naomi R Wray Peter M Visscher Paul I W de Bakker Michael A van Es R Jeroen Pasterkamp Cathryn M Lewis Gerome Breen Ammar Al-Chalabi Leonard H van den Berg Jan H Veldink

Nat Genet 2016 09 25;48(9):1043-8. Epub 2016 Jul 25.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/ng.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 2016

Increased functional connectivity common to symptomatic amyotrophic lateral sclerosis and those at genetic risk.

J Neurol Neurosurg Psychiatry 2016 06 5;87(6):580-8. Epub 2016 Jan 5.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK FMRIB Centre, John Radcliffe Hospital, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1136/jnnp-2015-311945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893149PMC
June 2016

Presymptomatic ALS genetic counseling and testing: Experience and recommendations.

Neurology 2016 06 18;86(24):2295-302. Epub 2016 May 18.

From the Department of Neurology (M.B., E.R., S.H., A.C., M.C.F., D.D.D., S.-C.M., J.W.), University of Miami, FL; Winship Cancer Institute and Department of Human Genetics (C.S.), Emory University, Atlanta, GA; and Department of Pharmacology and Clinical Neuroscience (P.M.A.), Umeå University, Sweden.

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http://dx.doi.org/10.1212/WNL.0000000000002773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909562PMC
June 2016

Comment on "Cutting Edge: Inhibiting TBK1 by Compound II Ameliorates Autoimmune Disease in Mice".

J Immunol 2016 Jan;196(2):530-1

Department of Neurology, Ulm University, 89081 Ulm, Germany; and

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http://dx.doi.org/10.4049/jimmunol.1502255DOI Listing
January 2016

Low autophagy capacity implicated in motor system vulnerability to mutant superoxide dismutase.

Acta Neuropathol Commun 2016 Jan 25;4. Epub 2016 Jan 25.

Department of Medical Biosciences, Umeå University, Building 6 M, 2nd Floor, Umeå, SE 901 85, Sweden.

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http://dx.doi.org/10.1186/s40478-016-0274-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727314PMC
January 2016

Wnt and extraocular muscle sparing in amyotrophic lateral sclerosis.

Invest Ophthalmol Vis Sci 2014 Aug 14;55(9):5482-96. Epub 2014 Aug 14.

Department of Integrative Medical Biology, Section for Anatomy, Umeå University, Umeå, Sweden.

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http://dx.doi.org/10.1167/iovs.14-14886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4580151PMC
August 2014

Association of NFE2L2 and KEAP1 haplotypes with amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2014 Mar 8;15(1-2):130-7. Epub 2013 Oct 8.

Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine, The Sahlgrenska Academy at the University of Gothenburg , Gothenburg , Sweden.

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http://dx.doi.org/10.3109/21678421.2013.839708DOI Listing
March 2014

Can lesions to the motor cortex induce amyotrophic lateral sclerosis?

J Neurol 2014 Feb 20;261(2):283-90. Epub 2013 Nov 20.

Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s00415-013-7185-7DOI Listing
February 2014

Credibility analysis of putative disease-causing genes using bioinformatics.

PLoS One 2013 5;8(6):e64899. Epub 2013 Jun 5.

King's Health Partners Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0064899PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674010PMC
January 2014

No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Dec 23;14(7-8):620-7. Epub 2013 Aug 23.

Department of Pharmacology and Clinical Neuroscience, Umeå University , Umeå

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http://dx.doi.org/10.3109/21678421.2013.822515DOI Listing
December 2013

ALS and FTD: two sides of the same coin?

Authors:
Peter M Andersen

Lancet Neurol 2013 Oct 5;12(10):937-8. Epub 2013 Sep 5.

Department of Clinical Neuroscience, Umeå University, SE-901 85 Umeå, Sweden. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(13)70218-7DOI Listing
October 2013

Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD).

JMIR Mhealth Uhealth 2013 Sep 4;1(2):e18. Epub 2013 Sep 4.

King's College London, Institute of Psychiatry, Department of Clinical Neuroscience, London, United Kingdom.

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http://dx.doi.org/10.2196/mhealth.2706DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4114449PMC
September 2013

Pyrimethamine decreases levels of SOD1 in leukocytes and cerebrospinal fluid of ALS patients: a phase I pilot study.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Apr 17;14(3):199-204. Epub 2012 Sep 17.

Department of Neurology, Hospital for Special Surgery, New York, NY 10021, USA.

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http://dx.doi.org/10.3109/17482968.2012.724074DOI Listing
April 2013

Composition of soluble misfolded superoxide dismutase-1 in murine models of amyotrophic lateral sclerosis.

Neuromolecular Med 2013 Mar 18;15(1):147-58. Epub 2012 Oct 18.

Department of Medical Biosciences, Clinical Chemistry, Umeå University, 901 85, Umeå, Sweden.

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http://link.springer.com/content/pdf/10.1007/s12017-012-8204
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http://link.springer.com/10.1007/s12017-012-8204-z
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http://dx.doi.org/10.1007/s12017-012-8204-zDOI Listing
March 2013

pNfH is a promising biomarker for ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Mar 22;14(2):146-9. Epub 2012 Oct 22.

King's Health Partners Centre for Neurodegeneration Research, Institute of Psychiatry, Kings College London, UK.

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http://dx.doi.org/10.3109/21678421.2012.729596DOI Listing
March 2013

Progressive aphasia as the presenting symptom in a patient with amyotrophic lateral sclerosis with a novel mutation in the OPTN gene.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Mar 3;14(2):138-40. Epub 2013 Jan 3.

Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St.Gallen, St.Gallen, Switzerland.

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http://dx.doi.org/10.3109/21678421.2012.756525DOI Listing
March 2013

No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Jan 17;14(1):26-9. Epub 2012 Sep 17.

Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden.

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http://dx.doi.org/10.3109/17482968.2012.725415DOI Listing
January 2013

Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation.

Amyotroph Lateral Scler 2012 Oct 7;13(6):567-9. Epub 2012 Jun 7.

Forbes Norris ALS/MND Research Center, California Pacific Medical Center, San Francisco, California, USA.

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http://dx.doi.org/10.3109/17482968.2012.678365DOI Listing
October 2012

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics.

Hum Mutat 2012 Sep 16;33(9):1345-51. Epub 2012 Jul 16.

Department of Clinical Neuroscience, King's College London, Institute of Psychiatry, London, UK.

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http://dx.doi.org/10.1002/humu.22157DOI Listing
September 2012

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.

Hum Mol Genet 2012 Aug 16;21(16):3568-74. Epub 2012 May 16.

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tübingen 72076, Germany.

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http://dx.doi.org/10.1093/hmg/dds188DOI Listing
August 2012

Early onset Parkinsonism associated with an intronic SOD1 mutation.

Amyotroph Lateral Scler 2012 May 3;13(3):315-7. Epub 2012 Jan 3.

Department of Neurology, ALS Centre, CHU de Limoges, France.

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http://dx.doi.org/10.3109/17482968.2011.623301DOI Listing
May 2012

Novel TARDBP mutations in Nordic ALS patients.

J Hum Genet 2012 May 29;57(5):316-9. Epub 2012 Mar 29.

Department of NVS, KI-Alzheimer Disease Research Center, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1038/jhg.2012.24DOI Listing
May 2012

Mutation in C9orf72 changes the boundaries of ALS and FTD.

Authors:
Peter M Andersen

Lancet Neurol 2012 Mar 3;11(3):205-7. Epub 2012 Feb 3.

Department of Clinical Neuroscience, Umeå University, Umeå, Sweden.

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http://dx.doi.org/10.1016/S1474-4422(12)70020-0DOI Listing
March 2012