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Mari Auranen

Showing results (11-20 of 51) with videos related to

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Neurology. Genetics|April 12, 2016
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth diseaseMari Auranen, Emil Ylikallio, Maria Shcherbii, et al.
Frontiers in Neurology|November 29, 2023
Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle diseaseNadja Ratia, Edouard Palu, Hanna Lantto, et al.
Cold Spring Harbor Molecular Case Studies|October 19, 2017
Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1CMari Auranen, Jussi Toppila, Saranya Suriyanarayanan, et al.
Neurology. Genetics|June 12, 2018
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathyMarkus T Sainio, Emil Ylikallio, Laura Mäenpää, et al.
European Journal of Human Genetics : EJHG|July 26, 2021
IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorderAnna Kuukasjärvi, Juan C Landoni, Jyrki Kaukonen, et al.
European Journal of Human Genetics : EJHG|August 22, 2013
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1Emil Ylikallio, Mridul Johari, Svetlana Konovalova, et al.
Journal of Neuromuscular Diseases|February 20, 2025
Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot studyVilma-Lotta Lehtokari, Minna Similä, Marianne Tammepuu, et al.
American Journal of Human Genetics|August 23, 2002
A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27Mari Auranen, Raija Vanhala, Teppo Varilo, et al.
BBA Clinical|December 18, 2015
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stressEmil Ylikallio, Svetlana Konovalova, Yogesh Dhungana, et al.
Molecular Biology of the Cell|May 27, 2016
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasiaJohn J Kelly, Jessica L Esseltine, Qing Shao, et al.
Pageof 6

Showing results (11-20 of 51) with videos related to

Sort By:
Pageof 6
Neurology. Genetics|April 12, 2016
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth diseaseMari Auranen, Emil Ylikallio, Maria Shcherbii, et al.
Frontiers in Neurology|November 29, 2023
Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle diseaseNadja Ratia, Edouard Palu, Hanna Lantto, et al.
Cold Spring Harbor Molecular Case Studies|October 19, 2017
Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1CMari Auranen, Jussi Toppila, Saranya Suriyanarayanan, et al.
Neurology. Genetics|June 12, 2018
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathyMarkus T Sainio, Emil Ylikallio, Laura Mäenpää, et al.
European Journal of Human Genetics : EJHG|July 26, 2021
IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorderAnna Kuukasjärvi, Juan C Landoni, Jyrki Kaukonen, et al.
European Journal of Human Genetics : EJHG|August 22, 2013
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1Emil Ylikallio, Mridul Johari, Svetlana Konovalova, et al.
Journal of Neuromuscular Diseases|February 20, 2025
Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot studyVilma-Lotta Lehtokari, Minna Similä, Marianne Tammepuu, et al.
American Journal of Human Genetics|August 23, 2002
A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27Mari Auranen, Raija Vanhala, Teppo Varilo, et al.
BBA Clinical|December 18, 2015
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stressEmil Ylikallio, Svetlana Konovalova, Yogesh Dhungana, et al.
Molecular Biology of the Cell|May 27, 2016
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasiaJohn J Kelly, Jessica L Esseltine, Qing Shao, et al.
Pageof 6