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Mari Auranen

Showing results (31-40 of 51) with videos related to

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Neurology. Genetics|May 10, 2024
Homozygosity of a Founder Variant c.1508dupC in <i>DOK7</i> Causes Congenital Myasthenia With Variable SeverityJohanna Palmio, Panu Kiviranta, Päivi H Hartikainen, et al.
EMBO Molecular Medicine|September 21, 2016
Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patientsSofia Ahola, Mari Auranen, Pirjo Isohanni, et al.
Journal of Inherited Metabolic Disease|August 29, 2020
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial diseaseJenni M Lehtonen, Mari Auranen, Niklas Darin, et al.
Journal of Neuromuscular Diseases|December 3, 2016
Decreased Aerobic Capacity in ANO5-Muscular DystrophyEmil Ylikallio, Mari Auranen, Ibrahim Mahjneh, et al.
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.
European Journal of Human Genetics : EJHG|August 4, 2005
Analysis of four neuroligin genes as candidates for autismTero Ylisaukko-oja, Karola Rehnström, Mari Auranen, et al.
Neurology. Genetics|November 1, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> GenePeter Hackman, Salla M Rusanen, Mridul Johari, 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.
Pageof 6

Showing results (31-40 of 51) with videos related to

Sort By:
Pageof 6
Neurology. Genetics|May 10, 2024
Homozygosity of a Founder Variant c.1508dupC in <i>DOK7</i> Causes Congenital Myasthenia With Variable SeverityJohanna Palmio, Panu Kiviranta, Päivi H Hartikainen, et al.
EMBO Molecular Medicine|September 21, 2016
Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patientsSofia Ahola, Mari Auranen, Pirjo Isohanni, et al.
Journal of Inherited Metabolic Disease|August 29, 2020
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial diseaseJenni M Lehtonen, Mari Auranen, Niklas Darin, et al.
Journal of Neuromuscular Diseases|December 3, 2016
Decreased Aerobic Capacity in ANO5-Muscular DystrophyEmil Ylikallio, Mari Auranen, Ibrahim Mahjneh, et al.
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.
European Journal of Human Genetics : EJHG|August 4, 2005
Analysis of four neuroligin genes as candidates for autismTero Ylisaukko-oja, Karola Rehnström, Mari Auranen, et al.
Neurology. Genetics|November 1, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> GenePeter Hackman, Salla M Rusanen, Mridul Johari, 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.
Pageof 6