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Neurology|August 27, 2003
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cystsC Patrono, G Di Giacinto, E Eymard-Pierre, et al.Clinical Genetics|June 21, 2008
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersF Brancati, L Travaglini, D Zablocka, et al.Journal of Virology|December 16, 2011
Structure of an antibody in complex with its mucin domain linear epitope that is protective against Ebola virusDaniel Olal, Ana I Kuehne, Shridhar Bale, et al.Cell|February 28, 2015
Structural basis for Marburg virus neutralization by a cross-reactive human antibodyTakao Hashiguchi, Marnie L Fusco, Zachary A Bornholdt, et al.Neuromuscular Disorders : NMD|August 30, 2001
Respiratory chain defects in hereditary spastic paraplegiasF Piemonte, C Casali, R Carrozzo, et al.Neurology|April 12, 2003
Cerebellar ataxia and coenzyme Q10 deficiencyC Lamperti, A Naini, M Hirano, et al.Neuromuscular Disorders : NMD|October 29, 2000
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndromeM Villanova, E Mercuri, E Bertini, et al.Neurology|January 14, 2004
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay typeG S Grieco, A Malandrini, G Comanducci, et al.Neurology|July 20, 2007
An open-label trial of levetiracetam in severe myoclonic epilepsy of infancyP Striano, A Coppola, M Pezzella, et al.Human Molecular Genetics|September 26, 1997
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular CenterJ Laporte, C Guiraud-Chaumeil, M C Vincent, et al.Pageof 29