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EMBO Molecular Medicine|June 13, 2014
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophiesBurcu Ayoglu, Amina Chaouch, Hanns Lochmüller, et al.Life Science Alliance|August 14, 2021
Dystrophin involvement in peripheral circadian SRF signallingCorinne A Betts, Aarti Jagannath, Tirsa LE van Westering, et al.Journal of Neurology, Neurosurgery, and Psychiatry|December 6, 2014
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variantsJanneke C van den Bergen, Monika Hiller, Stefan Böhringer, et al.Journal of Medical Genetics|June 28, 2019
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domainRichard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, et al.Neuromuscular Disorders : NMD|March 29, 2013
Early neurodevelopmental assessment in Duchenne muscular dystrophyMarika Pane, Roberta Scalise, Angela Berardinelli, et al.Nature Medicine|August 11, 2014
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and miceNicolas Wein, Adeline Vulin, Maria S Falzarano, et al.Journal of Cardiovascular Medicine (Hagerstown, Md.)|November 9, 2023
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG patternLaura Tonelli, Cristina Balla, Marianna Farnè, et al.Neuromuscular Disorders : NMD|March 28, 2021
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophyClaudia Brogna, Giorgia Coratti, Rachele Rossi, et al.Neurology|February 6, 2015
Prevalence of congenital muscular dystrophy in Italy: a population studyAlessandra Graziano, Flaviana Bianco, Adele D'Amico, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 1, 2026
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn SequencingLilian Downie, Julie Yeo, Thomas Minten, et al.Pageof 19