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Marina Pedemonte

Showing results (11-20 of 71) with videos related to

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Journal of Clinical Medicine|December 23, 2023
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1Noemi Brolatti, Federica Trucco, Marta Ferretti, et al.
Journal of Child Neurology|November 10, 2006
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidismDenise Cassandrini, Salvatore Savasta, Mauro Bozzola, et al.
Journal of Neurology|April 12, 2006
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal featuresRoberta Biancheri, Federico Zara, Pasquale Striano, et al.
Pediatric Neurology|January 1, 2016
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular DystrophyRiccardo Papa, Francesca Madia, Domenico Bartolomeo, et al.
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.
Neuromuscular Disorders : NMD|November 15, 2017
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experienceSonia Messina, Marika Pane, Valeria Sansone, 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.
Journal of Telemedicine and Telecare|June 6, 2018
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trialFederica Trucco, Marina Pedemonte, Fabrizio Racca, et al.
JIMD Reports|May 1, 2017
Mutations in GMPPB Presenting with Pseudometabolic MyopathyChiara Panicucci, Chiara Fiorillo, Francesca Moro, et al.
American Journal of Physiology. Cell Physiology|September 30, 2005
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatmentStefania Assereto, Silvia Stringara, Federica Sotgia, et al.
Pageof 8

Showing results (11-20 of 71) with videos related to

Sort By:
Pageof 8
Journal of Clinical Medicine|December 23, 2023
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1Noemi Brolatti, Federica Trucco, Marta Ferretti, et al.
Journal of Child Neurology|November 10, 2006
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidismDenise Cassandrini, Salvatore Savasta, Mauro Bozzola, et al.
Journal of Neurology|April 12, 2006
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal featuresRoberta Biancheri, Federico Zara, Pasquale Striano, et al.
Pediatric Neurology|January 1, 2016
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular DystrophyRiccardo Papa, Francesca Madia, Domenico Bartolomeo, et al.
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.
Neuromuscular Disorders : NMD|November 15, 2017
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experienceSonia Messina, Marika Pane, Valeria Sansone, 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.
Journal of Telemedicine and Telecare|June 6, 2018
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trialFederica Trucco, Marina Pedemonte, Fabrizio Racca, et al.
JIMD Reports|May 1, 2017
Mutations in GMPPB Presenting with Pseudometabolic MyopathyChiara Panicucci, Chiara Fiorillo, Francesca Moro, et al.
American Journal of Physiology. Cell Physiology|September 30, 2005
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatmentStefania Assereto, Silvia Stringara, Federica Sotgia, et al.
Pageof 8