Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review. Boeri S, Piai M, Russo S, Alari V, Cogliati F, Simonetta D, Benke TA, Nobili L, Prato G Orphanet journal of rare diseases
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Korb M, Peck A, Alfano LN, Berger KI, James MK, Ghoshal N, Healzer E, Henchcliffe C, Khan S, Mammen PPA, Patel S, Pfeffer G, Ralston SH, Roy B, Seeley WW, Swenson A, Mozaffar T, Weihl C, Kimonis V, VCP Standards of Care Working Group Orphanet journal of rare diseases
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Mazzoni P, Krischer JP, Cuthbertson D, Holbert AR, Ferguson JH, Pulst SM, Subramony SH Orphanet journal of rare diseases