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Eclinicalmedicine
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May 17, 2023
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies
Marika Pane, Beatrice Berti, Anna Capasso, et al.
Biochimica Et Biophysica Acta
|
April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
Anna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
Neuromuscular Disorders : NMD
|
July 17, 2010
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy
Elena Mazzone, Diego Martinelli, Angela Berardinelli, et al.
Journal of Neurology
|
March 27, 2015
Redefining phenotypes associated with mitochondrial DNA single deletion
Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Orphanet Journal of Rare Diseases
|
November 29, 2025
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm
Marco Spada, Serena Gasperini, Massimiliano Filosto, et al.
Plos One
|
January 18, 2013
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy
Elena Stacy Mazzone, Marika Pane, Maria Pia Sormani, et al.
Plos One
|
March 17, 2016
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study
Elena S Mazzone, Giorgia Coratti, Maria Pia Sormani, et al.
Journal of Clinical Medicine
|
June 2, 2021
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases
Chiara Ticci, Daniele Orsucci, Anna Ardissone, et al.
Plos One
|
October 2, 2014
Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes
Marika Pane, Elena Stacy Mazzone, Serena Sivo, et al.
Genes
|
February 25, 2023
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of <i>RYR1</i>-Related Myopathies
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, et al.
Page
of 9
Search research articles
Search
Showing results (71-80 of 82) with videos related to
Sort By:
Page
of 9
Eclinicalmedicine
|
May 17, 2023
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies
Marika Pane, Beatrice Berti, Anna Capasso, et al.
Biochimica Et Biophysica Acta
|
April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
Anna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
Neuromuscular Disorders : NMD
|
July 17, 2010
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy
Elena Mazzone, Diego Martinelli, Angela Berardinelli, et al.
Journal of Neurology
|
March 27, 2015
Redefining phenotypes associated with mitochondrial DNA single deletion
Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Orphanet Journal of Rare Diseases
|
November 29, 2025
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm
Marco Spada, Serena Gasperini, Massimiliano Filosto, et al.
Plos One
|
January 18, 2013
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy
Elena Stacy Mazzone, Marika Pane, Maria Pia Sormani, et al.
Plos One
|
March 17, 2016
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study
Elena S Mazzone, Giorgia Coratti, Maria Pia Sormani, et al.
Journal of Clinical Medicine
|
June 2, 2021
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases
Chiara Ticci, Daniele Orsucci, Anna Ardissone, et al.
Plos One
|
October 2, 2014
Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes
Marika Pane, Elena Stacy Mazzone, Serena Sivo, et al.
Genes
|
February 25, 2023
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of <i>RYR1</i>-Related Myopathies
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, et al.
Page
of 9