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 Fiorillo

Showing results (41-50 of 142) with videos related to

Pageof 15
Sort By:
Neurogenetics|July 4, 2019
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findingsMarcello Scala, Giorgia Brigati, Chiara Fiorillo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 9, 2018
Spinal motor neuron involvement in a patient with homozygous PRUNE mutationMichele Iacomino, Chiara Fiorillo, Annalaura Torella, et al.
HGG Advances|March 11, 2026
ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorderMarcello Scala, Ranjan K Sahu, Mariasavina Severino, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|July 17, 2019
Novel <i>TRIM32</i> mutation in sarcotubular myopathyChiara Panicucci, Monica Traverso, Serena Baratto, et al.
Clinical Neuropathology|July 20, 2021
Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathiesChiara Panicucci, Serena Baratto, Lizzia Raffaghello, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|June 14, 2016
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophyStefania Assereto, Rosanna Piccirillo, Serena Baratto, et al.
Biochemical and Biophysical Research Communications|February 15, 2015
Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutationGiacomo Brisca, Chiara Fiorillo, Claudia Nesti, et al.
JIMD Reports|May 1, 2017
Mutations in GMPPB Presenting with Pseudometabolic MyopathyChiara Panicucci, Chiara Fiorillo, Francesca Moro, et al.
Neuropediatrics|May 12, 2020
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic VariantThea Giacomini, Alessandra Gamucci, Livia Pisciotta, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|December 16, 2018
Muscle Expression of Type I and Type II Interferons Is Increased in Juvenile Dermatomyositis and Related to Clinical and Histologic FeaturesGian Marco Moneta, Denise Pires Marafon, Emiliano Marasco, et al.
Pageof 15

Showing results (41-50 of 142) with videos related to

Sort By:
Pageof 15
Neurogenetics|July 4, 2019
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findingsMarcello Scala, Giorgia Brigati, Chiara Fiorillo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 9, 2018
Spinal motor neuron involvement in a patient with homozygous PRUNE mutationMichele Iacomino, Chiara Fiorillo, Annalaura Torella, et al.
HGG Advances|March 11, 2026
ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorderMarcello Scala, Ranjan K Sahu, Mariasavina Severino, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|July 17, 2019
Novel <i>TRIM32</i> mutation in sarcotubular myopathyChiara Panicucci, Monica Traverso, Serena Baratto, et al.
Clinical Neuropathology|July 20, 2021
Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathiesChiara Panicucci, Serena Baratto, Lizzia Raffaghello, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|June 14, 2016
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophyStefania Assereto, Rosanna Piccirillo, Serena Baratto, et al.
Biochemical and Biophysical Research Communications|February 15, 2015
Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutationGiacomo Brisca, Chiara Fiorillo, Claudia Nesti, et al.
JIMD Reports|May 1, 2017
Mutations in GMPPB Presenting with Pseudometabolic MyopathyChiara Panicucci, Chiara Fiorillo, Francesca Moro, et al.
Neuropediatrics|May 12, 2020
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic VariantThea Giacomini, Alessandra Gamucci, Livia Pisciotta, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|December 16, 2018
Muscle Expression of Type I and Type II Interferons Is Increased in Juvenile Dermatomyositis and Related to Clinical and Histologic FeaturesGian Marco Moneta, Denise Pires Marafon, Emiliano Marasco, et al.
Pageof 15