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Browsing by Author "Muntoni, F."
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Fukutin-related protein alters the deposition of laminin in the eye and brain
Ackroyd, M.R.; Whitmore, C.; Prior, S.; Kaluarachchi, M.; Nikolic, M.; Mayer, U.; Muntoni, F.; Brown, S.C. (2011-09-07)Mutations in fukutin-related protein (FKRP) are responsible for acommongroup of muscular dystrophies ranging from adult onset limb girdle muscular dystrophies to severe congenital forms with associated structural brain ... -
Revised Hammersmith scale for spinal muscular atrophy
Ramsey, D.; Scoto, M.; Mayhew, A.; Main, M.; Wilson, I.; Mazzone, E.; Montes, J.; Dunaway, S.; Pasternak, A.; Salazar, R.; Bushby, K.; Finkel, R.; Mercuri, E.; Muntoni, F. (2015-09-30) -
Revised Hammersmith scale for spinal muscular atrophy: Inter and intra-rater reliability and content validity from a patient perspective
Ramsey, D.; Scoto, M.; Mayhew, A.; Ramdharry, G.; Wallace, A.; Muntoni, F. (2015) -
Revised Hammersmith scale for spinal muscular atrophy: Longitudinal changes over six and twelve months in a large international cohort
Ramsey, D.; Scoto, M.; Mayhew, A.; Main, M.; Mazzone, E.; Montes, J.; Dunaway, S.; Salazar, R.; Glanzman, A.; Pasternak, A.; Duong, T.; Gee, R.; Civitello, M.; Bushby, K.; Day, J.; Darras, B.; De Vivo, D.; Finkel, R.; Mercuri, E.; Muntoni, F. (2016-10-04)The SMA field is advancing rapidly, with numerous drugs focused on different mechanisms for SMN upregulation now in clinical trials, and with encouraging early results, suggesting the distinct possibility that a clinical ...