Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998
Diagnosis and Management of Motor Neurone Disease
BMJ 336:658-662, McDermott,C.J. &Shaw,P.J., 2008
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Efficacy of Idebenone on Respiratory Function in Patients with Duchenne Muscular Dystrophy not using Glucocorticoids (DELOS): A Double-Blind Randomised Placebo-Controlled Phase 3 Trial
Lancet 385:1748-1757,1704, Buyse, G.M.,et al, 2015
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003
Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999