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Cold Spring Harbor Molecular Case Studies
|
October 19, 2017
Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C
Mari 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 neuropathy
Markus T Sainio, Emil Ylikallio, Laura Mäenpää, et al.
Nucleic Acids Research
|
August 21, 2010
Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice
Emil Ylikallio, Jennifer L Page, Xia Xu, et al.
Human Molecular Genetics
|
April 9, 2013
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy
Emil Ylikallio, Rosanna Pöyhönen, Magdalena Zimon, et al.
Communications Biology
|
December 11, 2025
Metabolic costs and trade-offs of hypermetabolism in human motor neurons with ATP synthase deficiency
Rubén Torregrosa-Muñumer, Jeremi Turkia, Rumeysa Ermiş, et al.
BBA Clinical
|
December 18, 2015
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress
Emil Ylikallio, Svetlana Konovalova, Yogesh Dhungana, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 23, 2005
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
Henna Tyynismaa, Katja Peltola Mjosund, Sjoerd Wanrooij, et al.
Acta Neurologica Scandinavica
|
August 21, 2021
Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders
Markus T Sainio, Juho Aaltio, Virva Hyttinen, et al.
Neuromuscular Disorders : NMD
|
January 14, 2024
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia
Carina Wallgren-Pettersson, Manu Jokela, Vilma-Lotta Lehtokari, et al.
Neurogenetics
|
August 22, 2023
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Edouard Palu, Julius Järvilehto, Jana Pennonen, et al.
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Search research articles
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Showing results (11-20 of 43) with videos related to
Sort By:
Page
of 5
Cold Spring Harbor Molecular Case Studies
|
October 19, 2017
Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C
Mari 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 neuropathy
Markus T Sainio, Emil Ylikallio, Laura Mäenpää, et al.
Nucleic Acids Research
|
August 21, 2010
Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice
Emil Ylikallio, Jennifer L Page, Xia Xu, et al.
Human Molecular Genetics
|
April 9, 2013
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy
Emil Ylikallio, Rosanna Pöyhönen, Magdalena Zimon, et al.
Communications Biology
|
December 11, 2025
Metabolic costs and trade-offs of hypermetabolism in human motor neurons with ATP synthase deficiency
Rubén Torregrosa-Muñumer, Jeremi Turkia, Rumeysa Ermiş, et al.
BBA Clinical
|
December 18, 2015
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress
Emil Ylikallio, Svetlana Konovalova, Yogesh Dhungana, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 23, 2005
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
Henna Tyynismaa, Katja Peltola Mjosund, Sjoerd Wanrooij, et al.
Acta Neurologica Scandinavica
|
August 21, 2021
Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders
Markus T Sainio, Juho Aaltio, Virva Hyttinen, et al.
Neuromuscular Disorders : NMD
|
January 14, 2024
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia
Carina Wallgren-Pettersson, Manu Jokela, Vilma-Lotta Lehtokari, et al.
Neurogenetics
|
August 22, 2023
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Edouard Palu, Julius Järvilehto, Jana Pennonen, et al.
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of 5