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Showing results (71-80 of 83) with videos related to

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Annals of Neurology|February 12, 2021
Assessing Dysferlinopathy Patients Over Three Years With a New Motor ScaleMarni B Jacobs, Meredoith K James, Linda P Lowes, et al.
Frontiers in Neurology|April 1, 2022
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis ApproachAnna G Mayhew, Meredith K James, Ursula Moore, et al.
Molecular Genetics and Metabolism|August 6, 2019
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERTEsther Fernández-Simón, Ana Carrasco-Rozas, Eduard Gallardo, et al.
Neurology. Genetics|August 17, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem ProteinopathyMarianela Schiava, Chiseko Ikenaga, Ana Topf, et al.
Neuromuscular Disorders : NMD|December 13, 2023
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registryRafael Jenaro Martinez-Marin, David Reyes-Leiva, Andrés Nascimento, et al.
Mitochondrion|July 5, 2016
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disordersDelia Yubero, Raquel Montero, Miguel A Martín, et al.
Human Mutation|September 1, 2012
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwideAlberto García-Redondo, Oriol Dols-Icardo, Ricard Rojas-García, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 12, 2018
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophyAlicia Alonso-Jimenez, Rosemarie H M J M Kroon, Aida Alejaldre-Monforte, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 9, 2018
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trialsJordi Diaz-Manera, Roberto Fernandez-Torron, Jaume LLauger, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2022
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre studyMarianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, et al.
Pageof 9

Showing results (71-80 of 83) with videos related to

Sort By:
Pageof 9
Annals of Neurology|February 12, 2021
Assessing Dysferlinopathy Patients Over Three Years With a New Motor ScaleMarni B Jacobs, Meredoith K James, Linda P Lowes, et al.
Frontiers in Neurology|April 1, 2022
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis ApproachAnna G Mayhew, Meredith K James, Ursula Moore, et al.
Molecular Genetics and Metabolism|August 6, 2019
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERTEsther Fernández-Simón, Ana Carrasco-Rozas, Eduard Gallardo, et al.
Neurology. Genetics|August 17, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem ProteinopathyMarianela Schiava, Chiseko Ikenaga, Ana Topf, et al.
Neuromuscular Disorders : NMD|December 13, 2023
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registryRafael Jenaro Martinez-Marin, David Reyes-Leiva, Andrés Nascimento, et al.
Mitochondrion|July 5, 2016
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disordersDelia Yubero, Raquel Montero, Miguel A Martín, et al.
Human Mutation|September 1, 2012
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwideAlberto García-Redondo, Oriol Dols-Icardo, Ricard Rojas-García, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 12, 2018
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophyAlicia Alonso-Jimenez, Rosemarie H M J M Kroon, Aida Alejaldre-Monforte, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 9, 2018
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trialsJordi Diaz-Manera, Roberto Fernandez-Torron, Jaume LLauger, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2022
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre studyMarianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, et al.
Pageof 9