Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron s... by Jessica Lee, Philip Millington, Kavinda Dayasiri, Sithara Ramdas, Sandeep Jayawant, Geetha Anand

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Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protect... by John P Bourke, Gillian Watson, Francesco Muntoni, Stefan Spinty, Helen Roper, Michela Guglieri, Chris Speed, Elaine McColl, Ashish Chikermane, Sandeep Jayawant, Satish Adwani, Tracey Willis, Jennifer Wilkinson, Andrew Bryant, Thomas Chadwick, Ruth Wood, Kate Bushby

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Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. by Stefano Lise, Yvonne Clarkson, Emma Perkins, Alexandra Kwasniewska, Elham Sadighi Akha, Ricardo Parolin Schnekenberg, Daumante Suminaite, Jilly Hope, Ian Baker, Lorna Gregory, Angie Green, Chris Allan, Sarah Lamble, Sandeep Jayawant, Gerardine Quaghebeur, M Zameel Cader, Sarah Hughes, Richard J E Armstrong, Alexander Kanapin, Andrew Rimmer, Gerton Lunter, Iain Mathieson, Jean-Baptiste Cazier, David Buck, Jenny C Taylor, David Bentley, Gilean McVean, Peter Donnelly, Samantha J L Knight, Mandy Jackson, Jiannis Ragoussis, Andrea H Németh

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