Search research articles
Contact Us
Filters
Showing results (21-30 of 54) with videos related to
Page
of 6
Sort By:
JAMA Neurology
|
July 10, 2013
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9
Caterina Garone, Maria Alice Donati, Michele Sacchini, et al.
EMBO Molecular Medicine
|
June 28, 2014
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
Caterina Garone, Beatriz Garcia-Diaz, Valentina Emmanuele, et al.
Neuropsychiatric Disease and Treatment
|
June 27, 2009
SAFA: A new measure to evaluate psychiatric symptoms detected in a sample of children and adolescents affected by eating disorders. Correlations with risk factors
Emilo Franzoni, Morena Monti, Alessandro Pellicciari, et al.
Molecular Genetics and Metabolism
|
December 3, 2019
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement
Margherita Protasoni, Claudio Bruno, Maria Alice Donati, et al.
Developmental Medicine and Child Neurology
|
May 20, 2011
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype
Caterina Garone, Tommaso Pippucci, Duccio M Cordelli, et al.
Brain Communications
|
June 19, 2026
Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency
Michio Hirano, Caterina Garone, Richard Haas, et al.
Brain : a Journal of Neurology
|
April 15, 2014
Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy
Beatriz Garcia-Diaz, Caterina Garone, Emanuele Barca, et al.
Neurology. Genetics
|
January 18, 2024
Expanding the Clinical Spectrum of <i>UBTF</i>-Related Neurodevelopmental Disorder
Andrea Pietra, Flavia Palombo, Melania Giannotta, et al.
Journal of Neurology
|
July 15, 2009
Prospective study on long-term treatment with oxcarbazepine in pediatric epilepsy
Emilio Franzoni, Valentina Gentile, Alessandro Pellicciari, et al.
Annals of Neurology
|
March 21, 2017
Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency
Carlos Lopez-Gomez, Rebecca J Levy, Maria J Sanchez-Quintero, et al.
Page
of 6
Search research articles
Search
Showing results (21-30 of 54) with videos related to
Sort By:
Page
of 6
JAMA Neurology
|
July 10, 2013
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9
Caterina Garone, Maria Alice Donati, Michele Sacchini, et al.
EMBO Molecular Medicine
|
June 28, 2014
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
Caterina Garone, Beatriz Garcia-Diaz, Valentina Emmanuele, et al.
Neuropsychiatric Disease and Treatment
|
June 27, 2009
SAFA: A new measure to evaluate psychiatric symptoms detected in a sample of children and adolescents affected by eating disorders. Correlations with risk factors
Emilo Franzoni, Morena Monti, Alessandro Pellicciari, et al.
Molecular Genetics and Metabolism
|
December 3, 2019
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement
Margherita Protasoni, Claudio Bruno, Maria Alice Donati, et al.
Developmental Medicine and Child Neurology
|
May 20, 2011
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype
Caterina Garone, Tommaso Pippucci, Duccio M Cordelli, et al.
Brain Communications
|
June 19, 2026
Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency
Michio Hirano, Caterina Garone, Richard Haas, et al.
Brain : a Journal of Neurology
|
April 15, 2014
Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy
Beatriz Garcia-Diaz, Caterina Garone, Emanuele Barca, et al.
Neurology. Genetics
|
January 18, 2024
Expanding the Clinical Spectrum of <i>UBTF</i>-Related Neurodevelopmental Disorder
Andrea Pietra, Flavia Palombo, Melania Giannotta, et al.
Journal of Neurology
|
July 15, 2009
Prospective study on long-term treatment with oxcarbazepine in pediatric epilepsy
Emilio Franzoni, Valentina Gentile, Alessandro Pellicciari, et al.
Annals of Neurology
|
March 21, 2017
Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency
Carlos Lopez-Gomez, Rebecca J Levy, Maria J Sanchez-Quintero, et al.
Page
of 6