A
Angelica Nordin
Researcher at Umeå University
Publications - 11
Citations - 438
Angelica Nordin is an academic researcher from Umeå University. The author has contributed to research in topics: Gene & Myopathy. The author has an hindex of 6, co-authored 9 publications receiving 274 citations.
Papers
More filters
Journal ArticleDOI
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
Chizuru Akimoto,Alexander E Volk,Marka van Blitterswijk,Marleen Van den Broeck,Claire S. Leblond,Serge Lumbroso,William Camu,Birgit Neitzel,Osamu Onodera,Wouter van Rheenen,Susana Pinto,Markus Weber,Bradley N. Smith,Melanie Proven,Kevin Talbot,Pamela Keagle,Alessandra Chesi,Antonia Ratti,Julie van der Zee,Helena Alstermark,Anna Birve,Daniela Calini,Angelica Nordin,Daniela C Tradowsky,Walter Just,Hussein Daoud,Sabrina Angerbauer,Mariely DeJesus-Hernandez,Takuya Konno,Anjali Lloyd-Jani,Mamede de Carvalho,Kevin Mouzat,John Landers,Jan H. Veldink,Vincenzo Silani,Aaron D. Gitler,Christopher Shaw,Guy A. Rouleau,Leonard H. van den Berg,Christine Van Broeckhoven,Rosa Rademakers,Peter M. Andersen,Peter M. Andersen,Christian Kubisch +43 more
TL;DR: It is proposed that Southern blotting techniques should be the gold standard, and be made obligatory in a clinical diagnostic setting, because of the wide range seen in genotyping results.
Posted ContentDOI
Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Wouter van Rheenen,Rick A.A. van der Spek,Mark K Bakker,Joke J.F.A. van Vugt,Paul J. Hop,Ramona A. J. Zwamborn,Niek de Klein,Harm-Jan Westra,Olivier B. Bakker,Patrick Deelen,Patrick Deelen,Gemma Shireby,Eilis Hannon,Matthieu Moisse,Denis Baird,Restuadi Restuadi,Egor Dolzhenko,Annelot M. Dekker,Klara Gawor,Henk-Jan Westeneng,Gijs H.P. Tazelaar,Kristel R. van Eijk,Maarten Kooyman,Ross P. Byrne,Mark A. Doherty,Mark Heverin,Ahmad Al Khleifat,Alfredo Iacoangeli,Alfredo Iacoangeli,Aleksey Shatunov,Nicola Ticozzi,Johnathan Cooper-Knock,Bradley N. Smith,Marta Gromicho,Siddharthan Chandran,Suvankar Pal,Karen E. Morrison,Pamela J. Shaw,John Hardy,Richard W. Orrell,Michael Sendtner,Thomas Meyer,Nazli Basak,Anneke J. van der Kooi,Antonia Ratti,Isabella Fogh,Cinzia Gellera,Giuseppe Lauria Pinter,Stefania Corti,Cristina Cereda,Daisy Sproviero,Sandra D'Alfonso,Gianni Sorarù,Gabriele Siciliano,Massimiliano Filosto,Alessandro Padovani,Adriano Chiò,Andrea Calvo,Cristina Moglia,Maura Brunetti,Antonio Canosa,Maurizio Grassano,Ettore Beghi,Elisabetta Pupillo,Giancarlo Logroscino,Beatrice Nefussy,Alma Osmanovic,Angelica Nordin,Yossef Lerner,Yossef Lerner,Michal Zabari,Michal Zabari,Marc Gotkine,Marc Gotkine,Robert H. Baloh,Shaughn Bell,Patrick Vourc'h,Philippe Corcia,Philippe Couratier,Stéphanie Millecamps,Vincent Meininger,François Salachas,Jesus S. Mora Pardina,Abdelilah Assialioui,Ricardo Rojas-García,Patrick A. Dion,Jay P. Ross,Jay P. Ross,Albert C. Ludolph,Jochen H. Weishaupt,David A. Brenner,Axel Freischmidt,Axel Freischmidt,Gilbert Bensimon,Alexis Brice,Alexandra Durr,Christine Payan,Safa Saker-Delye,Nicholas W. Wood,Simon Topp,Rosa Rademakers,Lukas Tittmann,Wolfgang Lieb,Andre Franke,Stephan Ripke,Stephan Ripke,Stephan Ripke,Alice Braun,Julia Kraft,David C. Whiteman,Catherine M. Olsen,André G. Uitterlinden,Albert Hofman,Marcella Rietschel,Sven Cichon,Markus M. Nöthen,Philippe Amouyel,Bryan J. Traynor,Bryan J. Traynor,Adrew B. Singleton,Miguel Mitne Neto,Ruben J. Cauchi,Roel A. Ophoff,Roel A. Ophoff,Roel A. Ophoff,Martina Wiedau-Pazos,Catherine Lomen-Hoerth,Vivianna M. Van Deerlin,Julian Grosskreutz,A. Rödiger,Nayana Gaur,Alexander Jörk,Tabea Barthel,Erik Theele,Benjamin Ilse,Beatrice Stubendorff,Otto W. Witte,Robert Steinbach,Christian A. Hübner,Caroline Graff,Lev Brylev,Vera Fominykh,Vera Demeshonok,Anastasia Ataulina,Boris Rogelj,Blaž Koritnik,Janez Zidar,Metka Ravnik-Glavač,Damjan Glavač,Zorica Stevic,Vivian E. Drory,Mònica Povedano,Ian P. Blair,Matthew C. Kiernan,Beben Benyamin,Beben Benyamin,Robert D. Henderson,Robert D. Henderson,Sarah Furlong,Susan Mathers,Pamela A. McCombe,Pamela A. McCombe,Merrilee Needham,Merrilee Needham,Merrilee Needham,Shyuan T. Ngo,Garth A. Nicholson,Roger Pamphlett,Dominic B. Rowe,Frederik J. Steyn,Frederik J. Steyn,Kelly L. Williams,Karen A. Mather,Karen A. Mather,Perminder S. Sachdev,Anjali K. Henders,Leanne Wallace,Mamede de Carvalho,Susana Pinto,Susanne Petri,Markus Weber,Guy A. Rouleau,Vincenzo Silani,Charles Curtis,Gerome Breen,Gerome Breen,Jonathan D. Glass,Robert H. Brown,John Landers,Christopher Shaw,Peter M. Andersen,Ewout J N Groen,Michael A. van Es,R. Jeroen Pasterkamp,Dongsheng Fan,Fleur C. Garton,Allan F. McRae,George Davey Smith,Tom R. Gaunt,Michael A. Eberle,Jonathan Mill,Russell L. McLaughlin,Orla Hardiman,Kevin P. Kenna,Naomi R. Wray,Ellen A. Tsai,Heiko Runz,Lude Franke,Ammar Al-Chalabi,Ammar Al-Chalabi,Philip Van Damme,Leonard H. van den Berg,Jan H. Veldink +212 more
TL;DR: All ALS associated signals combined reveal a role for perturbations in vesicle mediated transport and autophagy, and provide evidence for cell-autonomous disease initiation in glutamatergic neurons.
Journal ArticleDOI
Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD
Angelica Nordin,Chizuru Akimoto,Anna Wuolikainen,Helena Alstermark,Pär Jonsson,Anna Birve,Stefan L. Marklund,Karin S. Graffmo,Karin Forsberg,Thomas Brännström,Peter M Andersen +10 more
TL;DR: The size of hexanucleotide expansions in C9orf72 in neural and non-neural tissues from 18 autopsied ALS and FTD patients with repeat expansion in blood are estimated and it is found that repeat sizes up to 15 are stable, as no size variation between blood, brain and spinal cord was found.
Journal ArticleDOI
Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice
TL;DR: The mice data confirm a fundamental role for ISCU in mammals and further support tissue-specific splicing as the major mechanism limiting the phenotype to skeletal muscle in HML.
Journal ArticleDOI
The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1.
TL;DR: PTBP1 was found to repress the defective splicing of ISCU, resulting in a drastic loss of mutant transcripts, and IGF2BP1 and RBM39 shifted the splicing ratio toward the incorrect splice form.