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Mari Auranen

Showing results (21-30 of 51) with videos related to

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Neurogenetics|August 22, 2023
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament lightEdouard Palu, Julius Järvilehto, Jana Pennonen, et al.
Acta Neurologica Scandinavica|August 21, 2021
Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disordersMarkus T Sainio, Juho Aaltio, Virva Hyttinen, et al.
Neuromuscular Disorders : NMD|January 14, 2024
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertoniaCarina Wallgren-Pettersson, Manu Jokela, Vilma-Lotta Lehtokari, et al.
Journal of Community Genetics|April 6, 2020
Attitudes towards genetic testing and information: does parenthood shape the views?Antti Saastamoinen, Virva Hyttinen, Mika Kortelainen, et al.
Neurology. Genetics|April 12, 2016
PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistryMari Auranen, Johanna Palmio, Emil Ylikallio, et al.
Frontiers in Neurology|June 16, 2016
Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle DiseasePäivi Piirilä, Minna E Similä, Johanna Palmio, et al.
Annals of Neurology|November 17, 2005
Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish familiesTero Ylisaukko-oja, Maricela Alarcón, Rita M Cantor, et al.
EMBO Molecular Medicine|April 9, 2014
Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3Nahid A Khan, Mari Auranen, Ilse Paetau, et al.
Frontiers in Neurology|March 7, 2022
Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular AtrophyJulius Järvilehto, Sandra Harjuhaahto, Edouard Palu, et al.
Neuromuscular Disorders : NMD|September 5, 2015
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D diseaseJohanna Palmio, Per Harald Jonson, Anni Evilä, et al.
Pageof 6

Showing results (21-30 of 51) with videos related to

Sort By:
Pageof 6
Neurogenetics|August 22, 2023
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament lightEdouard Palu, Julius Järvilehto, Jana Pennonen, et al.
Acta Neurologica Scandinavica|August 21, 2021
Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disordersMarkus T Sainio, Juho Aaltio, Virva Hyttinen, et al.
Neuromuscular Disorders : NMD|January 14, 2024
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertoniaCarina Wallgren-Pettersson, Manu Jokela, Vilma-Lotta Lehtokari, et al.
Journal of Community Genetics|April 6, 2020
Attitudes towards genetic testing and information: does parenthood shape the views?Antti Saastamoinen, Virva Hyttinen, Mika Kortelainen, et al.
Neurology. Genetics|April 12, 2016
PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistryMari Auranen, Johanna Palmio, Emil Ylikallio, et al.
Frontiers in Neurology|June 16, 2016
Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle DiseasePäivi Piirilä, Minna E Similä, Johanna Palmio, et al.
Annals of Neurology|November 17, 2005
Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish familiesTero Ylisaukko-oja, Maricela Alarcón, Rita M Cantor, et al.
EMBO Molecular Medicine|April 9, 2014
Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3Nahid A Khan, Mari Auranen, Ilse Paetau, et al.
Frontiers in Neurology|March 7, 2022
Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular AtrophyJulius Järvilehto, Sandra Harjuhaahto, Edouard Palu, et al.
Neuromuscular Disorders : NMD|September 5, 2015
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D diseaseJohanna Palmio, Per Harald Jonson, Anni Evilä, et al.
Pageof 6