Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Carlo Minetti

Showing results (151-160 of 190) with videos related to

Pageof 19
Sort By:
Acta Neuropathologica|January 15, 2013
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathyNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.
Epilepsia|July 11, 2006
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 familiesPasquale Striano, Maria Luisa Lispi, Elena Gennaro, et al.
Cell|April 22, 2009
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidificationNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.
Epilepsia|March 27, 2007
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlationsPasquale Striano, Maria Margherita Mancardi, Roberta Biancheri, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2014
Myoclonus in mitochondrial disordersMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Epilepsia|September 17, 2013
Clinical dissection of early onset absence epilepsy in children and prognostic implicationsSergio Agostinelli, Patrizia Accorsi, Francesca Beccaria, et al.
Cancers|April 30, 2021
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort StudyMarcello Scala, Irene Schiavetti, Francesca Madia, et al.
Clinical Genetics|July 23, 2021
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteinsSmrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, et al.
Neuromuscular Disorders : NMD|June 9, 2018
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe diseaseMarco Savarese, Annalaura Torella, Olimpia Musumeci, et al.
Neurology|May 3, 2013
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutationMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Pageof 19

Showing results (151-160 of 190) with videos related to

Sort By:
Pageof 19
Acta Neuropathologica|January 15, 2013
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathyNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.
Epilepsia|July 11, 2006
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 familiesPasquale Striano, Maria Luisa Lispi, Elena Gennaro, et al.
Cell|April 22, 2009
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidificationNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.
Epilepsia|March 27, 2007
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlationsPasquale Striano, Maria Margherita Mancardi, Roberta Biancheri, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2014
Myoclonus in mitochondrial disordersMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Epilepsia|September 17, 2013
Clinical dissection of early onset absence epilepsy in children and prognostic implicationsSergio Agostinelli, Patrizia Accorsi, Francesca Beccaria, et al.
Cancers|April 30, 2021
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort StudyMarcello Scala, Irene Schiavetti, Francesca Madia, et al.
Clinical Genetics|July 23, 2021
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteinsSmrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, et al.
Neuromuscular Disorders : NMD|June 9, 2018
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe diseaseMarco Savarese, Annalaura Torella, Olimpia Musumeci, et al.
Neurology|May 3, 2013
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutationMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Pageof 19