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Emil Ylikallio

Showing results (31-40 of 43) with videos related to

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Journal of Neurology|December 6, 2018
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophyMarkus T Sainio, Salla Välipakka, Bruno Rinaldi, et al.
Frontiers in Cell and Developmental Biology|March 3, 2022
Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor NeuronsMarkus T Sainio, Tiina Rasila, Svetlana M Molchanova, et al.
Neuromolecular Medicine|November 18, 2015
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory NeuropathySaranya Suriyanarayanan, Mari Auranen, Jussi Toppila, et al.
Human Molecular Genetics|February 4, 2017
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegiaHelen M Cooper, Yang Yang, Emil Ylikallio, et al.
Muscle & Nerve|September 25, 2018
Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathyKristin Samuelsson, Ana Radovic, Rayomand Press, et al.
Human Molecular Genetics|October 12, 2021
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolismSebastian Kenvin, Ruben Torregrosa-Muñumer, Marco Reidelbach, et al.
Annals of Clinical and Translational Neurology|September 19, 2020
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth diseaseJulius Rönkkö, Svetlana Molchanova, Anya Revah-Politi, et al.
Neurology|June 28, 2015
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactateAnna-Kaisa Anttonen, Taru Hilander, Tarja Linnankivi, et al.
Neurobiology of Disease|August 10, 2018
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseasesEmmanuelle C Genin, Sylvie Bannwarth, Françoise Lespinasse, et al.
Acta Neuropathologica Communications|May 21, 2025
Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolismSandra Harjuhaahto, Manu Jokela, Jayasimman Rajendran, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
Journal of Neurology|December 6, 2018
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophyMarkus T Sainio, Salla Välipakka, Bruno Rinaldi, et al.
Frontiers in Cell and Developmental Biology|March 3, 2022
Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor NeuronsMarkus T Sainio, Tiina Rasila, Svetlana M Molchanova, et al.
Neuromolecular Medicine|November 18, 2015
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory NeuropathySaranya Suriyanarayanan, Mari Auranen, Jussi Toppila, et al.
Human Molecular Genetics|February 4, 2017
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegiaHelen M Cooper, Yang Yang, Emil Ylikallio, et al.
Muscle & Nerve|September 25, 2018
Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathyKristin Samuelsson, Ana Radovic, Rayomand Press, et al.
Human Molecular Genetics|October 12, 2021
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolismSebastian Kenvin, Ruben Torregrosa-Muñumer, Marco Reidelbach, et al.
Annals of Clinical and Translational Neurology|September 19, 2020
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth diseaseJulius Rönkkö, Svetlana Molchanova, Anya Revah-Politi, et al.
Neurology|June 28, 2015
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactateAnna-Kaisa Anttonen, Taru Hilander, Tarja Linnankivi, et al.
Neurobiology of Disease|August 10, 2018
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseasesEmmanuelle C Genin, Sylvie Bannwarth, Françoise Lespinasse, et al.
Acta Neuropathologica Communications|May 21, 2025
Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolismSandra Harjuhaahto, Manu Jokela, Jayasimman Rajendran, et al.
Pageof 5