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Journal of Child Neurology|April 13, 2011
Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parentsIlaria Baiardini, Carlo Minetti, Simona Bonifacino, et al.DNA and Cell Biology|November 3, 2018
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 GeneChiara Fiorillo, Maria Rosaria D'Apice, Federica Trucco, et al.Italian Journal of Pediatrics|October 13, 2021
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variantsMarcello Scala, Midas Anijs, Roberta Battini, et al.Cell Cycle (Georgetown, Tex.)|November 19, 2005
Loss of caveolin-1 causes the hyper-proliferation of intestinal crypt stem cells, with increased sensitivity to whole body gamma-radiationJiangwei Li, Ghada S Hassan, Terence M Williams, et al.The American Journal of Pathology|September 26, 2003
Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophin-associated proteinsGloria Bonuccelli, Federica Sotgia, William Schubert, 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.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.Neurogenetics|January 31, 2008
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian familiesFrancesca Madia, Pasquale Striano, Carlo Di Bonaventura, et al.Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|July 17, 2019
Novel TRIM32 mutation in sarcotubular myopathyChiara Panicucci, Monica Traverso, Serena Baratto, et al.Neurology. Genetics|May 27, 2016
White matter involvement in a family with a novel PDGFB mutationRoberta Biancheri, Mariasavina Severino, Angela Robbiano, et al.Pageof 20