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Marina Pedemonte

Showing results (21-30 of 71) with videos related to

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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.
European Journal of Pediatrics|November 17, 2025
Hand X-ray metrics for assessing bone health and fracture risk in Duchenne muscular dystrophy: a cross-sectional studyChiara Panicucci, Agnese Repetto, Alessia Angelelli, et al.
Biochemical and Biophysical Research Communications|October 10, 2007
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changesRoberta Biancheri, Antonio Falace, Alessandra Tessa, 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.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|April 19, 2021
Management of respiratory complications and rehabilitation in individuals with muscular dystrophies: 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Milan, January 25-26, 2019)Fabrizio Rao, Giancarlo Garuti, Michele Vitacca, 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.
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.
Frontiers in Pediatrics|April 24, 2025
Evaluating treatment and care outcomes for neuromuscular diseases in a pediatric intermediate care settingGiacomo Brisca, Marina F Strati, Francesca Canzoneri, et al.
Biochemical and Biophysical Research Communications|February 18, 2006
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmyDenise Cassandrini, Maria Grazia Calevo, Alessandra Tessa, et al.
Journal of Human Genetics|March 21, 2018
Clinical and molecular consequences of exon 78 deletion in DMD geneMonica Traverso, Stefania Assereto, Serena Baratto, et al.
Pageof 8

Showing results (21-30 of 71) with videos related to

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Pageof 8
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.
European Journal of Pediatrics|November 17, 2025
Hand X-ray metrics for assessing bone health and fracture risk in Duchenne muscular dystrophy: a cross-sectional studyChiara Panicucci, Agnese Repetto, Alessia Angelelli, et al.
Biochemical and Biophysical Research Communications|October 10, 2007
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changesRoberta Biancheri, Antonio Falace, Alessandra Tessa, 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.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|April 19, 2021
Management of respiratory complications and rehabilitation in individuals with muscular dystrophies: 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Milan, January 25-26, 2019)Fabrizio Rao, Giancarlo Garuti, Michele Vitacca, 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.
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.
Frontiers in Pediatrics|April 24, 2025
Evaluating treatment and care outcomes for neuromuscular diseases in a pediatric intermediate care settingGiacomo Brisca, Marina F Strati, Francesca Canzoneri, et al.
Biochemical and Biophysical Research Communications|February 18, 2006
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmyDenise Cassandrini, Maria Grazia Calevo, Alessandra Tessa, et al.
Journal of Human Genetics|March 21, 2018
Clinical and molecular consequences of exon 78 deletion in DMD geneMonica Traverso, Stefania Assereto, Serena Baratto, et al.
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