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Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study by Francesco Muntoni, Giovanni Baranello, Pinki Munot, Mariacristina Scoto, Adnan Manzur, Marion Main, Evelin Milev, Lianne Abbott, Victoria Selby, Amy Wolfe, Annemarie Rohwer, Catherine Rye, Sarah Gregson, Grainne NicFhirleinn, Rosanna Raab, Heather McMurchie, Angela Topping, Faye Mason, Jennie Sheehan, Felicity Vann, Steph Wadsworth, José Longatto, Lindsey Pallant, Nick Emery, Jenny Moustoukas, Sarah D’Urso, Kay White, Efthymia Panagiotopoulou
Published 2025-01-01Get full text
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Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants by Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer R. Friedman, Stephen R. Braddock, Sarah B. Neuhaus, Denise M. Malicki, Matthew N. Bainbridge, Shareef Nahas, David P. Dimmock, Stephen F. Kingsmore, Timothy E. Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann
Published 2025-03-01Get full text
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