Background: Infantile X-linked spinal muscular atrophy (SMAX2) is a rare type of spinal muscular atrophy associated with UBA1 variants. Methods: Clinical imaging and neurophysiological tests were performed on a Chinese patient with SMAX2. Further, focused panel sequencing of …

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ENTRY O2170 20161017 20170201 20170125 O059 SUBENT O2170001 20161017 20170201 20170125 O059 BIB 12 41 TITLE Double-differential fragmentation cross-section measurements of 95 MeV/nucleon 12C beams on thin targets for hadron therapy AUTHOR (J.Dudouet, D.Juliani, M.Labalme, D.Cussol, J.C.Angelique, ...