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Chiara Fiorillo

Showing results (51-60 of 142) with videos related to

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Journal of Medical Genetics|January 6, 2012
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counsellingIsabella Scionti, Greta Fabbri, Chiara Fiorillo, et al.
Biochemical and Biophysical Research Communications|June 14, 2016
Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycanMaria Marchese, Andrea Pappalardo, Jacopo Baldacci, et al.
Developmental Medicine and Child Neurology|September 4, 2024
Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1Federica Trucco, Emilio Albamonte, Marika Pane, et al.
The American Journal of Pathology|October 15, 2015
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X AxisElisabetta Gazzerro, Simona Baldassari, Stefania Assereto, et al.
Mitochondrion|April 16, 2019
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB geneSilvia Marchet, Federica Invernizzi, Flavia Blasevich, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|April 19, 2016
Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipomaAndrea Accogli, Marco Pavanello, Patrizia Accorsi, et al.
Neuropediatrics|May 31, 2023
Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1Chiara Panicucci, Sara Casalini, Monica Traverso, et al.
JIMD Reports|April 10, 2015
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 MutationRoberta Biancheri, Eleonora Lamantea, Mariasavina Severino, et al.
Journal of the Neurological Sciences|January 28, 2019
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathyChiara Gemelli, Valeria Prada, Chiara Fiorillo, et al.
Brain & Development|February 16, 2023
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patientsChiara Panicucci, Sara Casalini, Beatrice M Damasio, et al.
Pageof 15

Showing results (51-60 of 142) with videos related to

Sort By:
Pageof 15
Journal of Medical Genetics|January 6, 2012
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counsellingIsabella Scionti, Greta Fabbri, Chiara Fiorillo, et al.
Biochemical and Biophysical Research Communications|June 14, 2016
Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycanMaria Marchese, Andrea Pappalardo, Jacopo Baldacci, et al.
Developmental Medicine and Child Neurology|September 4, 2024
Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1Federica Trucco, Emilio Albamonte, Marika Pane, et al.
The American Journal of Pathology|October 15, 2015
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X AxisElisabetta Gazzerro, Simona Baldassari, Stefania Assereto, et al.
Mitochondrion|April 16, 2019
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB geneSilvia Marchet, Federica Invernizzi, Flavia Blasevich, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|April 19, 2016
Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipomaAndrea Accogli, Marco Pavanello, Patrizia Accorsi, et al.
Neuropediatrics|May 31, 2023
Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1Chiara Panicucci, Sara Casalini, Monica Traverso, et al.
JIMD Reports|April 10, 2015
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 MutationRoberta Biancheri, Eleonora Lamantea, Mariasavina Severino, et al.
Journal of the Neurological Sciences|January 28, 2019
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathyChiara Gemelli, Valeria Prada, Chiara Fiorillo, et al.
Brain & Development|February 16, 2023
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patientsChiara Panicucci, Sara Casalini, Beatrice M Damasio, et al.
Pageof 15