Finn forfatter "Høyer, Helle"

Viser treff 1-5 av 5

  • Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation 
    Høyer, Helle; Busk, Øyvind L.; Esbensen, Q. Y.; Røsby, Oddveig; Hilmarsen, Hilde T.; Russell, Michael B.; Nyman, Tuula A.; Braathen, Geir J.; Nilsen, Hilde L. (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
    Background Aminoacyl tRNA-synthetases are ubiquitously-expressed enzymes that attach amino acids to their cognate tRNA molecules. Mutations in several genes encoding aminoacyl tRNA-synthetases, have been ...
  • Clinical trials in pediatric ALS: a TRICALS feasibility study 
    Kliest, Tessa; van Eijk, Ruben P. A.; Al-Chalabi, Ammar; Albanese, Alberto; Andersen, Peter M.; Amador, Maria Del Mar; Bråthen, Geir; Brunaud-Danel, Veronique; Brylev, Lev; Camu, William; de Carvalho, Mamede; Cereda, Cristina; Cetin, Hakan; Chaverri, Delia; Chiò, Adriano; Corcia, Philippe; Couratier, Philippe; De Marchi, Fabiola; Desnuelle, Claude; van Es, Michael A.; Esteban, Jesús; Filosto, Massimiliano; Redondo, Alberto García; Grosskreutz, Julian; Hanemann, Clemens O.; Holmøy, Trygve; Høyer, Helle; Ingre, Caroline; Koritnik, Blaz; Kuzma-Kozakiewicz, Magdalena; Lambert, Thomas; Leigh, Peter N.; Lunetta, Christian; Mandrioli, Jessica; McDermott, Christopher J.; Meyer, Thomas; Mora, Jesus S.; Petri, Susanne; Povedano, Mónica; Reviers, Evy; Riva, Nilo; Roes, Kit C. B.; Rubio, Miguel Á.; Salachas, François; Sarafov, Stayko; Sorarù, Gianni; Stevic, Zorica; Svenstrup, Kirsten; Møller, Anette Torvin; Turner, Martin R.; Van Damme, Philip; van Leeuwen, Lucie A. G.; Varona, Luis; Costa, Juan F. Vázquez; Weber, Markus; Hardiman, Orla; Berg, Leonard H. van den (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
    Background: Pediatric investigation plans (PIPs) describe how adult drugs can be studied in children. In 2015, PIPs for Amyotrophic Lateral Sclerosis (ALS) became mandatory for European marketing-authorization of adult ...
  • Genetic epidemiology of amyotrophic lateral sclerosis in Norway - a 2-year population based study 
    Olsen, Cathrine Goberg; Busk, Øyvind Løvold; Aanjesen, Tori Navestad; Alstadhaug, Karl Bjørnar; Bjørnå, Ingrid Kristine; Braathen, Geir Julius; Breivik, Kristin Lif; Demic, Natasha; Flemmen, Heidi Øyen; Hallerstig, Erika; HogenEsch, Ineke; Holla, Øystein Lunde; Jøntvedt, Anne Berit; Kampman, Margitta T.; Kleveland, Grethe; Kvernmo, Helene Ballo; Ljøstad, Unn; Maniaol, Angelina; Morsund, Åse Hagen; Nakken, Ola; Novy, Camilla; Rekand, Tiina; Schlüter, Katrin Ruth; Schuler, Stephan; Tveten, Kristian; Tysnes, Ole-Bjørn; Holmøy, Trygve; Høyer, Helle (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
    Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons. In Europe, disease-causing genetic variants have been identified in 40-70% of familial ALS patients and approximately ...
  • Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders 
    Olsen, Cathrine Goberg; Busk, Øyvind; Holla, Øystein Lunde; Tveten, Kristian; Holmøy, Trygve; Tysnes, Ole-Bjørn; Høyer, Helle (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2024)
    Objective: In Norway, 89% of patients with Amyotrophic lateral sclerosis (ALS) lacks a genetic diagnose. ALS genes and genes that cause other neuromuscular or neurodegenerative disorders extensively overlap. This ...
  • MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families 
    Braathen, Geir J; Sand, Jette C; Lobato, Ana; Høyer, Helle; Russell, Michael B (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2010)
    Background Point mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. MFN2 point mutations are probably ...