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

Carla Battisti

Showing results (11-20 of 58) with videos related to

Pageof 6
Sort By:
Journal of Child Neurology|February 12, 2005
Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutationMaria Teresa Dotti, Francesca Guideri, Maurizio Acampa, et al.
Human Mutation|October 2, 2004
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C diseaseEnza Di Leo, Francesca Panico, Patrizia Tarugi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 17, 2023
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutationDiego Lopergolo, Simona Salvatore, Vincenzo Sorrentino, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 5, 2020
Eye movement changes in autosomal dominant spinocerebellar ataxiasFrancesca Rosini, Elena Pretegiani, Carla Battisti, et al.
Journal of Cellular Physiology|July 20, 2017
Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localizationIlaria Taglia, Patrizia Formichi, Carla Battisti, et al.
Brain & Development|July 28, 2004
Lymphoblastoid cell lines of Rett syndrome patients exposed to oxidative-stress-induced apoptosisCarla Battisti, Patrizia Formichi, Sergio Antonio Tripodi, et al.
Neurology. Genetics|January 19, 2024
<i>FOLR1</i> Gene Variation With Adult-Onset Cerebral Folate Deficiency and Stable Clinical and MRI Features up to 2 YearsCarlo Manco, Rosa Cortese, Manfredi Alberti, et al.
Journal of the Neurological Sciences|January 29, 2014
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemiaAnna Rubegni, Elena Cardaioli, Elena Chini, et al.
Archives of Neurology|June 24, 2004
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASILMaria Teresa Dotti, Nicola De Stefano, Silvia Bianchi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 11, 2012
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patientsPatrizia Formichi, Elena Radi, Carla Battisti, et al.
Pageof 6

Showing results (11-20 of 58) with videos related to

Sort By:
Pageof 6
Journal of Child Neurology|February 12, 2005
Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutationMaria Teresa Dotti, Francesca Guideri, Maurizio Acampa, et al.
Human Mutation|October 2, 2004
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C diseaseEnza Di Leo, Francesca Panico, Patrizia Tarugi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 17, 2023
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutationDiego Lopergolo, Simona Salvatore, Vincenzo Sorrentino, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 5, 2020
Eye movement changes in autosomal dominant spinocerebellar ataxiasFrancesca Rosini, Elena Pretegiani, Carla Battisti, et al.
Journal of Cellular Physiology|July 20, 2017
Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localizationIlaria Taglia, Patrizia Formichi, Carla Battisti, et al.
Brain & Development|July 28, 2004
Lymphoblastoid cell lines of Rett syndrome patients exposed to oxidative-stress-induced apoptosisCarla Battisti, Patrizia Formichi, Sergio Antonio Tripodi, et al.
Neurology. Genetics|January 19, 2024
<i>FOLR1</i> Gene Variation With Adult-Onset Cerebral Folate Deficiency and Stable Clinical and MRI Features up to 2 YearsCarlo Manco, Rosa Cortese, Manfredi Alberti, et al.
Journal of the Neurological Sciences|January 29, 2014
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemiaAnna Rubegni, Elena Cardaioli, Elena Chini, et al.
Archives of Neurology|June 24, 2004
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASILMaria Teresa Dotti, Nicola De Stefano, Silvia Bianchi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 11, 2012
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patientsPatrizia Formichi, Elena Radi, Carla Battisti, et al.
Pageof 6