Helle Høyer - Publications, H-index & Citations

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Helle Høyer

University of Oslo

11H-index

41Paper Count

558Citation Count

Published Papers 9

Publication Date

RFC1 Spectrum Disorder in a Norwegian CANVAS Cohort

Acta Neurologica Scandinavica

IF2.7

2026-05-29

OAAI

Sjur Prestsæter; Jeanette Koht; Siren Berland; Helle Høyer; Kaja Kristine Selmer; Christian Alexander Vedeler; Iselin Wedding; Kristin Nielsen Varhaug; Trude Morken Carlsen; Per Knappskog; Siri Lynne Rydning

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Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

Nature Genetics

IF29

2026-03-31

OAAI

Paul J. Hop; Maarten Kooyman; Brendan J. Kenna; Ramona A. J. Zwamborn; Kristel R. van Eijk; Yan Wang; Charlotte H. van Dijk; Erwin Bekema; Wouter van Rheenen; Paul Beele; Joke J. F. A. van Vugt; Ahmad Al Khleifat; Alfredo Iacoangeli; Johnathan Cooper-Knock; Bradley N. Smith; Simon Topp; Anneke J. van der Kooi; Vera Fominykh; Vivian Drory; Yossef Lerner; Yehuda Shovman; Dominic B. Rowe; Kelly L. Williams; Russell L. McLaughlin; Jessica Hurt; Yunfeng Huang; Chia-Yen Chen; Ellen Tsai; Heiko Runz; Eleonora Aronica; Ewout J. N. Groen; Michael A. van Es; R. Jeroen Pasterkamp; Sali M. K. Farhan; Fleur C. Garton; Allan F. McRae; Pamela A. McCombe; Robert D. Henderson; Dongsheng Fan; Lenka Šlachtová; Helle Høyer; Agnes L. Nishimura; Ruben J. Cauchi; Lev Brylev; Boris Rogelj; Blaž Koritnik; Janez Zidar; Teresa Salas; Jesus S. Mora Pardina; Marc Gotkine; Monica Povedano; Philippe Corcia; Patrick Vourc’h; Philippe Couratier; Markus Weber; Matthew C. Kiernan; Roger Pamphlett; Ian P. Blair; Mamede de Carvalho; Nazli A. Başak; Caroline Ingre; Peter M. Andersen; Lorne Zinman; Ekaterina Rogaeva; Ian R. MacKenzie; Nicolas Dupre; Guy A. Rouleau; Bryan J. Traynor; Nicola Ticozzi; Adriano Chiò; Vincenzo Silani; Orla Hardiman; Hemali Phatnani; Matthew B. Harms; Clifton L. Dalgard; Jonathan D. Glass; John E. Landers; Philip Van Damme; Karen E. Morrison; Pamela J. Shaw; Chris E. Shaw; Ammar Al-Chalabi; Leonard H. van den Berg; Kevin P. Kenna; Jan H. Veldink

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Association of UNC13A with increased amyotrophic lateral sclerosis risk, bulbar onset, and lower motor neuron involvement in a Norwegian ALS cohort

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION

IF2.8

2024-12-30

OAAI

Camilla Novy; Ole-Bjørn Tysnes; Øyvind L. Busk; Keson Jaioun; Trygve Holmøy; Øystein L. Holla; Helle Høyer

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Repeat expansions in AR, ATXN1, ATXN2 and HTT in Norwegian patients diagnosed with amyotrophic lateral sclerosis

BRAIN COMMUNICATIONS

IF4.5

2024-03-14

OAAI

Novy, Camilla; Busk, Oyvind L.; Tysnes, Ole-Bjorn; Landa, Sigve S.; Aanjesen, Tori N.; Alstadhaug, Karl B.; Bjerknes, Tale L.; Bjorna, Ingrid K.; Brathen, Geir; Dahl, Elin; Demic, Natasha; Fahlstrom, Maria; Flemmen, Heidi O.; Hallerstig, Erika; HogenEsch, Ineke; Kampman, Margitta T.; Kleveland, Grethe; Kvernmo, Helene B.; Ljostad, Unn; Maniaol, Angelina; Morsund, Aase Hagen; Nakken, Ola; Olsen, Cathrine G.; Schluter, Katrin; Utvik, May-Sissel; Yaseen, Ryaz; Holla, Oystein L.; Holmoy, Trygve; Hoyer, Helle

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Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype

BRAIN

IF11.7

2022-12-21

OAAI

Loseth, Sissel; Hoyer, Helle; Le, Kim-Mai; Delpire, Eric; Kinge, Einar; Lande, Asgeir; Hilmarsen, Hilde Tveitan; Fagerheim, Toril; Nilssen, Oivind; Braathen, Geir Julius

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Genetic Epidemiology of Amyotrophic Lateral Sclerosis in Norway: A 2-Year Population-Based Study

NEUROEPIDEMIOLOGY

IF4

2022-05-16

OAAI

Olsen, Cathrine Goberg; Busk, Oyvind Lovold; Aanjesen, Tori Navestad; Alstadhaug, Karl Bjornar; Bjorna, Ingrid Kristine; Braathen, Geir Julius; Breivik, Kristin Lif; Demic, Natasha; Flemmen, Heidi Oyen; Hallerstig, Erika; HogenEsch, Ineke; Holla, Oystein Lunde; Jontvedt, Anne Berit; Kampman, Margitta T.; Kleveland, Grethe; Kvernmo, Helene Ballo; Ljostad, Unn; Maniaol, Angelina; Morsund, Ase Hagen; Nakken, Ola; Novy, Camilla; Rekand, Tiina; Schluter, Katrin; Schuler, Stephan; Tveten, Kristian; Tysnes, Ole-Bjorn; Holmoy, Trygve; Hoyer, Helle

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A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-03-22

OAAI

Hoyer, Helle; Hilmarsen, Hilde T.; Sunder-Plassmann, Raute; Braathen, Geir J.; Andersen, Peter M.; Beetz, Christian; Hacker, Sandra; Holla, Oystein L.; Kurth, Ingo; Loescher, Wolfgang N.; Reiter, Simone B. C. F.; Rudnik-Schoeneborn, Sabine; Strand, Linda; Windhager, Reinhard; Witsch-Baumgartner, Martina; Senderek, Jan; Auer-Grumbach, Michaela

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HINT1 neuropathy in Norway: clinical, genetic and functional profiling

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2021-03-04

OAAI

Amor-Barris, Silvia; Hoyer, Helle; Brauteset, Lin V.; De Vriendt, Els; Strand, Linda; Jordanova, Albena; Braathen, Geir J.; Peeters, Kristien

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The genetic landscape of axonal neuropathies in the middle-aged and elderly Focus on MME

NEUROLOGY

IF8.5

2020-12-15

OAAI

Senderek, Jan; Lassuthova, Petra; Kabzinska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J.; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Draeger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N.; Horvath, Rita; Hoyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N.; Kurth, Ingo; Laing, Nigel G.; Lamont, Phillipa J.; Loescher, Wolfgang N.; Ludolph, Albert; Marques, Wilson, Jr.; Nicholson, Garth; Ong, Royston; Petri, Susanne; Ravenscroft, Gianina; Rebelo, Adriana; Ricci, Giulia; Rudnik-Schoeneborn, Sabine; Schirmacher, Anja; Schlotter-Weigel, Beate; Schoels, Ludger; Schuele, Rebecca; Synofzik, Matthis; Francou, Bruno; Strom, Tim M.; Wagner, Johannes; Walk, David; Wanschitz, Julia; Weinmann, Daniela; Weishaupt, Jochen; Wiessner, Manuela; Windhager, Reinhard; Young, Peter; Zuechner, Stephan; Toegel, Stefan; Seeman, Pavel; Kochanski, Andrzej; Auer-Grumbach, Michaela

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Research Directions