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Italian Journal of Pediatrics|October 26, 2014
Inter-society consensus document on treatment and prevention of bronchiolitis in newborns and infantsEugenio Baraldi, Marcello Lanari, Paolo Manzoni, et al.
Annals of the Rheumatic Diseases|September 26, 2013
Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of diseaseHemlata Varsani, Susan C Charman, Charles K Li, et al.
Neuromuscular Disorders : NMD|February 27, 2016
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort studySonia Messina, Gian Luca Vita, Maria Sframeli, et al.
Neuromuscular Disorders : NMD|March 30, 2016
"Mitochondrial neuropathies": A survey from the large cohort of the Italian NetworkMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
Acta Neuropathologica|January 15, 2013
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathyNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.
Epilepsia|July 11, 2006
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 familiesPasquale Striano, Maria Luisa Lispi, Elena Gennaro, et al.
Cell|April 22, 2009
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidificationNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.
Epilepsia|March 27, 2007
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlationsPasquale Striano, Maria Margherita Mancardi, Roberta Biancheri, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2014
Myoclonus in mitochondrial disordersMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
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