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

Chiara Terracciano

Showing results (31-40 of 41) with videos related to

Pageof 5
Sort By:
Journal of Neurology|February 12, 2019
Thymomatous myasthenia gravis: novel association with HLA DQB1*05:01 and strengthened evidence of high clinical and serological severityRoberto Massa, Giulia Greco, Manuela Testi, et al.
Genes|July 27, 2022
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent <i>NF1</i> Gene Variants and Correlations with Neurocognitive PhenotypeFilomena Napolitano, Milena Dell'Aquila, Chiara Terracciano, et al.
International Journal of Molecular Sciences|April 3, 2021
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian FamiliesFilomena Napolitano, Giorgia Bruno, Chiara Terracciano, et al.
Neuropathology and Applied Neurobiology|January 4, 2021
Novel autophagic vacuolar myopathies: Phenotype and genotype featuresFilomena Napolitano, Chiara Terracciano, Giorgia Bruno, et al.
Journal of Neurology|January 8, 2016
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factorsMaria Laura Ester Bianchi, Emanuele Leoncini, Marcella Masciullo, et al.
Brain : a Journal of Neurology|November 12, 2015
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth diseaseCeleste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, et al.
Journal of Cellular Physiology|December 8, 2017
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagyAngelo Pascarella, Chiara Terracciano, Olimpia Farina, et al.
Neuroepidemiology|February 17, 2016
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, ItalyNicola Vanacore, Emanuele Rastelli, Giovanni Antonini, et al.
Acta Neuropathologica Communications|July 25, 2015
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathyAlessandra Ruggieri, Francesco Brancati, Simona Zanotti, et al.
Journal of Cardiovascular Medicine (Hagerstown, Md.)|July 31, 2024
Temporal implementation of a regional referral pathway in transthyretin cardiac amyloidosis: Emilia-Romagna experienceSimone Longhi, Elena Biagini, Pietro Guaraldi, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
Journal of Neurology|February 12, 2019
Thymomatous myasthenia gravis: novel association with HLA DQB1*05:01 and strengthened evidence of high clinical and serological severityRoberto Massa, Giulia Greco, Manuela Testi, et al.
Genes|July 27, 2022
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent <i>NF1</i> Gene Variants and Correlations with Neurocognitive PhenotypeFilomena Napolitano, Milena Dell'Aquila, Chiara Terracciano, et al.
International Journal of Molecular Sciences|April 3, 2021
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian FamiliesFilomena Napolitano, Giorgia Bruno, Chiara Terracciano, et al.
Neuropathology and Applied Neurobiology|January 4, 2021
Novel autophagic vacuolar myopathies: Phenotype and genotype featuresFilomena Napolitano, Chiara Terracciano, Giorgia Bruno, et al.
Journal of Neurology|January 8, 2016
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factorsMaria Laura Ester Bianchi, Emanuele Leoncini, Marcella Masciullo, et al.
Brain : a Journal of Neurology|November 12, 2015
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth diseaseCeleste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, et al.
Journal of Cellular Physiology|December 8, 2017
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagyAngelo Pascarella, Chiara Terracciano, Olimpia Farina, et al.
Neuroepidemiology|February 17, 2016
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, ItalyNicola Vanacore, Emanuele Rastelli, Giovanni Antonini, et al.
Acta Neuropathologica Communications|July 25, 2015
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathyAlessandra Ruggieri, Francesco Brancati, Simona Zanotti, et al.
Journal of Cardiovascular Medicine (Hagerstown, Md.)|July 31, 2024
Temporal implementation of a regional referral pathway in transthyretin cardiac amyloidosis: Emilia-Romagna experienceSimone Longhi, Elena Biagini, Pietro Guaraldi, et al.
Pageof 5