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C Angelini

Showing results (311-320 of 531) with videos related to

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Human Mutation|October 15, 2008
Transcriptional behavior of DMD gene duplications in DMD/BMD malesF Gualandi, M Neri, M Bovolenta, et al.
Revue Neurologique|June 1, 2025
French guidelines for the diagnosis and management of pure hereditary spastic paraplegiaL Mania-Pâris, C Ewenczyk, G Nicolas, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 25, 2009
Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variablesP Cudia, P Bernasconi, R Chiodelli, et al.
European Journal of Neurology|May 7, 2017
European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experienceA T van der Ploeg, M E Kruijshaar, A Toscano, et al.
Journal of Medical Genetics|September 6, 2005
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypesG Piluso, L Politano, S Aurino, et al.
Neurology|December 24, 2010
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophyE Pegoraro, E P Hoffman, L Piva, et al.
European Journal of Neurology|April 9, 2010
Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseasesV A Sansone, M Panzeri, M Montanari, et al.
Neurology|November 10, 2004
Correlating phenotype and genotype in the periodic paralysesT M Miller, M R Dias da Silva, H A Miller, et al.
Neurology|April 1, 1995
Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonucleiE Pegoraro, R N Schimke, C Garcia, et al.
Neuropathology and Applied Neurobiology|June 3, 2017
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)M Ripolone, R Violano, D Ronchi, et al.
Pageof 54

Showing results (311-320 of 531) with videos related to

Sort By:
Pageof 54
Human Mutation|October 15, 2008
Transcriptional behavior of DMD gene duplications in DMD/BMD malesF Gualandi, M Neri, M Bovolenta, et al.
Revue Neurologique|June 1, 2025
French guidelines for the diagnosis and management of pure hereditary spastic paraplegiaL Mania-Pâris, C Ewenczyk, G Nicolas, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 25, 2009
Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variablesP Cudia, P Bernasconi, R Chiodelli, et al.
European Journal of Neurology|May 7, 2017
European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experienceA T van der Ploeg, M E Kruijshaar, A Toscano, et al.
Journal of Medical Genetics|September 6, 2005
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypesG Piluso, L Politano, S Aurino, et al.
Neurology|December 24, 2010
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophyE Pegoraro, E P Hoffman, L Piva, et al.
European Journal of Neurology|April 9, 2010
Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseasesV A Sansone, M Panzeri, M Montanari, et al.
Neurology|November 10, 2004
Correlating phenotype and genotype in the periodic paralysesT M Miller, M R Dias da Silva, H A Miller, et al.
Neurology|April 1, 1995
Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonucleiE Pegoraro, R N Schimke, C Garcia, et al.
Neuropathology and Applied Neurobiology|June 3, 2017
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)M Ripolone, R Violano, D Ronchi, et al.
Pageof 54