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Helle Høyer

Showing results (1-10 of 26) with videos related to

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Case Reports in Genetics|January 8, 2024
A Novel <i>SPAST</i> Variant Associated with Isolated Spastic ParaplegiaHelle Høyer, Ola Nakken, Trygve Holmøy
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke|September 27, 2022
[A.H. Ali et al. respond]Amanuel Hassen Ali, Helle Høyer, Eyvind Rugland, et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke|August 23, 2022
A woman in her fifties with progressive walking difficultiesAmanuel Hassen Ali, Helle Høyer, Eyvind Rugland, et al.
BMC Medical Genetics|March 31, 2010
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT familiesGeir J Braathen, Jette C Sand, Ana Lobato, et al.
European Journal of Medical Genetics|July 27, 2011
Charcot-Marie-Tooth caused by a copy number variation in myelin protein zeroHelle Høyer, Geir J Braathen, Anette K Eek, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 26, 2025
Association of <i>UNC13A</i> with increased amyotrophic lateral sclerosis risk, bulbar onset, and lower motor neuron involvement in a Norwegian ALS cohortCamilla Novy, Ole-Bjørn Tysnes, Øyvind L Busk, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|October 18, 2023
Genetic overlap between ALS and other neurodegenerative or neuromuscular disordersCathrine Goberg Olsen, Øyvind Løvold Busk, Øystein Lunde Holla, et al.
Biomed Research International|February 5, 2015
Copy number variations in a population-based study of Charcot-Marie-Tooth diseaseHelle Høyer, Geir J Braathen, Anette K Eek, et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke|November 5, 2015
Hereditary peripheral neuropathies diagnosed by next-generation sequencingHelle Høyer, Øyvind L Busk, Øystein L Holla, et al.
Neuromuscular Disorders : NMD|February 23, 2020
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused geneGian Maria Fabrizi, Helle Høyer, Federica Taioli, et al.
Pageof 3

Showing results (1-10 of 26) with videos related to

Sort By:
Pageof 3
Case Reports in Genetics|January 8, 2024
A Novel <i>SPAST</i> Variant Associated with Isolated Spastic ParaplegiaHelle Høyer, Ola Nakken, Trygve Holmøy
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke|September 27, 2022
[A.H. Ali et al. respond]Amanuel Hassen Ali, Helle Høyer, Eyvind Rugland, et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke|August 23, 2022
A woman in her fifties with progressive walking difficultiesAmanuel Hassen Ali, Helle Høyer, Eyvind Rugland, et al.
BMC Medical Genetics|March 31, 2010
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT familiesGeir J Braathen, Jette C Sand, Ana Lobato, et al.
European Journal of Medical Genetics|July 27, 2011
Charcot-Marie-Tooth caused by a copy number variation in myelin protein zeroHelle Høyer, Geir J Braathen, Anette K Eek, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 26, 2025
Association of <i>UNC13A</i> with increased amyotrophic lateral sclerosis risk, bulbar onset, and lower motor neuron involvement in a Norwegian ALS cohortCamilla Novy, Ole-Bjørn Tysnes, Øyvind L Busk, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|October 18, 2023
Genetic overlap between ALS and other neurodegenerative or neuromuscular disordersCathrine Goberg Olsen, Øyvind Løvold Busk, Øystein Lunde Holla, et al.
Biomed Research International|February 5, 2015
Copy number variations in a population-based study of Charcot-Marie-Tooth diseaseHelle Høyer, Geir J Braathen, Anette K Eek, et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke|November 5, 2015
Hereditary peripheral neuropathies diagnosed by next-generation sequencingHelle Høyer, Øyvind L Busk, Øystein L Holla, et al.
Neuromuscular Disorders : NMD|February 23, 2020
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused geneGian Maria Fabrizi, Helle Høyer, Federica Taioli, et al.
Pageof 3