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Disease Models & Mechanisms
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November 25, 2020
Impaired muscle morphology in a <i>Drosophila</i> model of myosin storage myopathy was supressed by overexpression of an E3 ubiquitin ligase
Martin Dahl-Halvarsson, Montse Olive, Malgorzata Pokrzywa, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 28, 2018
<i>Drosophila</i> model of myosin myopathy rescued by overexpression of a TRIM-protein family member
Martin Dahl-Halvarsson, Montse Olive, Malgorzata Pokrzywa, et al.
Neuromuscular Disorders : NMD
|
January 19, 2020
Cylindrical spirals in two families: Clinical and genetic investigations
Sarah J Beecroft, Montse Olive, Lidia Gonzalez Quereda, et al.
Annals of Clinical and Translational Neurology
|
September 28, 2019
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study
Maryam Sedghi, Ali-Reza Moslemi, Montse Olive, et al.
Free Radical Biology & Medicine
|
August 24, 2018
Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress
Fulvio Santacatterina, Laura Torresano, Alfonso Núñez-Salgado, et al.
Human Mutation
|
September 18, 2022
Mutation update for the ACTN2 gene
Johanna Ranta-Aho, Montse Olive, Marie Vandroux, et al.
Journal of the Neurological Sciences
|
December 21, 2004
A novel thymidine phosphorylase mutation in a Spanish MNGIE patient
Josep Gamez, Maria Carmen Lara, Fermin Mearin, et al.
Annals of Neurology
|
March 23, 2019
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations
Marco Savarese, Johanna Palmio, Juan José Poza, et al.
Frontiers in Aging Neuroscience
|
August 30, 2017
Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability
M A Rodríguez, Luís M Del Rio Barquero, Carlos I Ortez, et al.
Molecular Neurobiology
|
November 1, 2016
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy
Anni Evilä, Johanna Palmio, Anna Vihola, et al.
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Search research articles
Search
Showing results (1-10 of 17) with videos related to
Sort By:
Page
of 2
Disease Models & Mechanisms
|
November 25, 2020
Impaired muscle morphology in a <i>Drosophila</i> model of myosin storage myopathy was supressed by overexpression of an E3 ubiquitin ligase
Martin Dahl-Halvarsson, Montse Olive, Malgorzata Pokrzywa, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 28, 2018
<i>Drosophila</i> model of myosin myopathy rescued by overexpression of a TRIM-protein family member
Martin Dahl-Halvarsson, Montse Olive, Malgorzata Pokrzywa, et al.
Neuromuscular Disorders : NMD
|
January 19, 2020
Cylindrical spirals in two families: Clinical and genetic investigations
Sarah J Beecroft, Montse Olive, Lidia Gonzalez Quereda, et al.
Annals of Clinical and Translational Neurology
|
September 28, 2019
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study
Maryam Sedghi, Ali-Reza Moslemi, Montse Olive, et al.
Free Radical Biology & Medicine
|
August 24, 2018
Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress
Fulvio Santacatterina, Laura Torresano, Alfonso Núñez-Salgado, et al.
Human Mutation
|
September 18, 2022
Mutation update for the ACTN2 gene
Johanna Ranta-Aho, Montse Olive, Marie Vandroux, et al.
Journal of the Neurological Sciences
|
December 21, 2004
A novel thymidine phosphorylase mutation in a Spanish MNGIE patient
Josep Gamez, Maria Carmen Lara, Fermin Mearin, et al.
Annals of Neurology
|
March 23, 2019
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations
Marco Savarese, Johanna Palmio, Juan José Poza, et al.
Frontiers in Aging Neuroscience
|
August 30, 2017
Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability
M A Rodríguez, Luís M Del Rio Barquero, Carlos I Ortez, et al.
Molecular Neurobiology
|
November 1, 2016
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy
Anni Evilä, Johanna Palmio, Anna Vihola, et al.
Page
of 2