Bone and Spinal Muscular Atrophy

D'Amico, 2011, Spinal muscular atrophy, Orphanet J Rare Dis, 6, 71, 10.1186/1750-1172-6-71 Lefebvre, 1995, Identification and characterization of a spinal muscular atrophy-determining gene, Cell, 80, 155, 10.1016/0092-8674(95)90460-3 Lorson, 2010, Spinal muscular atrophy: mechanisms and therapeutic strategies, Hum Mol Genet, 19, R111, 10.1093/hmg/ddq147 Hamilton, 2013, Spinal muscular atrophy: going beyond the motor neuron, Trends Mol Med, 19, 40, 10.1016/j.molmed.2012.11.002 Shababi, 2014, Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?, J Anat, 224, 15, 10.1111/joa.12083 Mercuri, 2012, Childhood spinal muscular atrophy: controversies and challenges, Lancet Neurol, 11, 443, 10.1016/S1474-4422(12)70061-3 Bianchi, 2011, Low bone density and bone metabolism alterations in Duchenne muscular dystrophy: response to calcium and vitamin D treatment, Osteoporos Int, 22, 529, 10.1007/s00198-010-1275-5 Rufo, 2011, Mechanisms inducing low bone density in Duchenne muscular dystrophy in mice and humans, J Bone Miner Res, 26, 1891, 10.1002/jbmr.410 Finbråten, 2015, Bone mineral density and vitamin D status in ambulatory and non-ambulatory children with cerebral palsy, Osteoporos Int, 26, 141, 10.1007/s00198-014-2840-0 Mughal, 2014, Fractures in children with cerebral palsy, Curr Osteoporos Rep, 12, 313, 10.1007/s11914-014-0224-1 Rizzoli, 2010, Maximizing bone mineral mass gain during growth for the prevention of fractures in the adolescents and the elderly, Bone, 46, 294, 10.1016/j.bone.2009.10.005 Ma, 2003, The association between bone mineral density, metacarpal morphometry and upper limb fractures in children: a population based case–control study, J Clin Endocrinol Metab, 88, 1486, 10.1210/jc.2002-021682 Ferrari, 2006, Childhood fractures are associated with decreased bone mass gain during puberty: an early maker of persistent bone fragility, J Bone Miner Res, 21, 502 Clark, 2006, Association between bone density and fractures in children: a systematic review and meta-analysis, Pediatrics, 117, 291, 10.1542/peds.2005-1404 Bogunovic, 2009, Measurement of bone density in the pediatric population, Curr Opin Pediatr, 21, 77, 10.1097/MOP.0b013e32831ec338 Gordon, 2014, Zemel BS; International Society for Clinical Densitometry. 2013 Pediatric Position Development Conference: executive summary and reflections, J Clin Densitom, 17, 219, 10.1016/j.jocd.2014.01.007 Pane, 2008, Daily salbutamol in young patients with SMA type II, Neuromuscul Disord, 18, 536, 10.1016/j.nmd.2008.05.004 Main, 2003, The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation, Eur J Paediatr Neurol, 7, 155, 10.1016/S1090-3798(03)00060-6 O'Hagen, 2007, An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients, Neuromuscul Disord, 17, 693, 10.1016/j.nmd.2007.05.009 Mazzone, 2011, Assessing upper limb function in nonambulant SMA patients: development of a new module, Neuromuscul Disord, 21, 406, 10.1016/j.nmd.2011.02.014 Vestergaard, 2001, Fracture risk in patients with muscular dystrophy and spinal muscular atrophy, J Rehabil Med, 33, 150, 10.1080/165019701750300609 Fujak, 2010, Fractures in proximal spinal muscular atrophy, Arch Orthop Trauma Surg, 130, 775, 10.1007/s00402-010-1096-1 Febrer, 2013, Fractures in spinal muscular atrophy, Rev Neurol, 57, 207 Ballestrazzi, 1989, Osteopenia in spinal muscular atrophy, 215 Khatri, 2008, Low bone mineral density in spinal muscular atrophy, J Clin Neuromuscular Dis, 10, 11, 10.1097/CND.0b013e318183e0fa Kinali, 2004, Bone mineral density in a paediatric spinal muscular atrophy population, Neuropediatrics, 35, 325, 10.1055/s-2004-830366 Jiang, 2006, Mechanisms of osteoporosis in spinal cord injury, Clin Endocrinol (Oxf), 65, 555, 10.1111/j.1365-2265.2006.02683.x Tilton, 1998, Nutrition and swallowing in pediatric neuromuscular patients, Semin Pediatr Neurol, 5, 106, 10.1016/S1071-9091(98)80026-0 Poruk, 2012, Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I, Neuromuscul Disord, 22, 966, 10.1016/j.nmd.2012.04.008 Shanmugarajan, 2009, Bone loss in survival motor neuron (Smn(−/−) SMN2) genetic mouse model of spinal muscular atrophy, J Pathol, 219, 52, 10.1002/path.2566 Kurihara, 2001, Osteoclast-stimulating factor interacts with the spinal muscular atrophy gene product to stimulate osteoclast formation, J Biol Chem, 276, 41035, 10.1074/jbc.M100233200