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Alice Donati

Showing results (71-80 of 117) with videos related to

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Human Molecular Genetics|October 4, 2017
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndromeCaterina Garone, Aaron R D'Souza, Cristina Dallabona, et al.
Journal of Medical Genetics|June 17, 2021
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmissionDeborah Tolomeo, Anna Rubegni, Claudia Nesti, et al.
Frontiers in Neurology|October 22, 2021
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic OutcomeMarco Veneruso, Chiara Fiorillo, Paolo Broda, et al.
Human Gene Therapy|February 6, 2015
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trialRita Ferla, Pamela Claudiani, Marco Savarese, et al.
Human Mutation|May 26, 2017
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxiaAlessia Nasca, Chiara Scotton, Irina Zaharieva, et al.
Molecular Genetics and Metabolism|April 12, 2026
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burdenSabrina Malvagia, Marta Daniotti, Rodolfo Tonin, et al.
Orphanet Journal of Rare Diseases|February 10, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapyRossella Parini, Paola De Lorenzo, Andrea Dardis, et al.
Brain : a Journal of Neurology|August 23, 2015
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanismEmanuele Panza, Juan M Escamilla-Honrubia, Clara Marco-Marín, et al.
Human Mutation|May 18, 2004
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiencyMaria Pia Cosma, Stefano Pepe, Giancarlo Parenti, et al.
European Journal of Pediatrics|May 6, 2022
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screeningMarika Pane, Maria Alice Donati, Costanza Cutrona, et al.
Pageof 12

Showing results (71-80 of 117) with videos related to

Sort By:
Pageof 12
Human Molecular Genetics|October 4, 2017
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndromeCaterina Garone, Aaron R D'Souza, Cristina Dallabona, et al.
Journal of Medical Genetics|June 17, 2021
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmissionDeborah Tolomeo, Anna Rubegni, Claudia Nesti, et al.
Frontiers in Neurology|October 22, 2021
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic OutcomeMarco Veneruso, Chiara Fiorillo, Paolo Broda, et al.
Human Gene Therapy|February 6, 2015
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trialRita Ferla, Pamela Claudiani, Marco Savarese, et al.
Human Mutation|May 26, 2017
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxiaAlessia Nasca, Chiara Scotton, Irina Zaharieva, et al.
Molecular Genetics and Metabolism|April 12, 2026
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burdenSabrina Malvagia, Marta Daniotti, Rodolfo Tonin, et al.
Orphanet Journal of Rare Diseases|February 10, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapyRossella Parini, Paola De Lorenzo, Andrea Dardis, et al.
Brain : a Journal of Neurology|August 23, 2015
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanismEmanuele Panza, Juan M Escamilla-Honrubia, Clara Marco-Marín, et al.
Human Mutation|May 18, 2004
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiencyMaria Pia Cosma, Stefano Pepe, Giancarlo Parenti, et al.
European Journal of Pediatrics|May 6, 2022
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screeningMarika Pane, Maria Alice Donati, Costanza Cutrona, et al.
Pageof 12