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Monique Ryan
Monique Ryan
Royal Children's Hospital, Melbourne
Verified email at rch.org.au
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Cited by
Cited by
Year
Nusinersen versus sham control in infantile-onset spinal muscular atrophy
DVDC Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J ...
N Engl J Med. 377, 2017
1984*2017
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
D De Vivo, E Bertini, K Swoboda, WL Hwu, T Crawford, R Finkel, ...
Neuromuscular Disorders 29 (11), 2019
5152019
Ataluren treatment of patients with nonsense mutation dystrophinopathy
K Bushby, R Finkel, B Wong, R Barohn, C Campbell, GP Comi, ...
Muscle & nerve 50 (4), 477-487, 2014
5022014
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
CM McDonald, C Campbell, RE Torricelli, RS Finkel, KM Flanigan, ...
The Lancet 390 (10101), 1489-1498, 2017
4462017
Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study
CM McDonald, EK Henricson, RT Abresch, T Duong, NC Joyce, F Hu, ...
The Lancet 391 (10119), 451-461, 2018
4132018
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ...
Genetics in medicine 18 (11), 1090-1096, 2016
3992016
Nemaline myopathy: a clinical study of 143 cases
MM Ryan, C Schnell, CD Strickland, LK Shield, G Morgan, ST Iannaccone, ...
Annals of Neurology: Official Journal of the American Neurological …, 2001
3242001
De novo LMNA mutations cause a new form of congenital muscular dystrophy
S Quijano‐Roy, B Mbieleu, CG Bönnemann, PY Jeannet, J Colomer, ...
Annals of Neurology: Official Journal of the American Neurological …, 2008
3062008
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
J Wan, M Yourshaw, H Mamsa, S Rudnik-Schöneborn, MP Menezes, ...
Nature genetics 44 (6), 704-708, 2012
2512012
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
MA Willemsen, MM Verbeek, EJ Kamsteeg, JF de Rijk-van Andel, A Aeby, ...
Brain 133 (6), 1810-1822, 2010
2352010
Effect of COVID-19 pandemic lockdowns on planned cancer surgery for 15 tumour types in 61 countries: an international, prospective, cohort study
J Glasbey, A Ademuyiwa, A Adisa, E AlAmeer, AP Arnaud, F Ayasra, ...
The Lancet Oncology 22 (11), 1507-1517, 2021
2342021
Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study
L Bello, H Gordish-Dressman, LP Morgenroth, EK Henricson, T Duong, ...
Neurology 85 (12), 1048-1055, 2015
2022015
Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy
DM Escolar, LP Hache, PR Clemens, A Cnaan, CM McDonald, ...
Neurology 77 (5), 444-452, 2011
1972011
Nemaline myopathy caused by mutations in the muscle α-skeletal-actin gene
B Ilkovski, ST Cooper, K Nowak, MM Ryan, N Yang, C Schnell, HJ Durling, ...
The American Journal of Human Genetics 68 (6), 1333-1343, 2001
1792001
Neuromuscular disorders of infancy, childhood, and adolescence: a clinician's approach
BT Darras, HR Jones Jr, MM Ryan, C Darryl
Elsevier, 2014
1742014
Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial
J Burns, RA Ouvrier, EM Yiu, PD Joseph, AJ Kornberg, MC Fahey, ...
The Lancet Neurology 8 (6), 537-544, 2009
1722009
Neurofilament as a potential biomarker for spinal muscular atrophy
BT Darras, TO Crawford, RS Finkel, E Mercuri, DC De Vivo, M Oskoui, ...
Annals of clinical and translational neurology 6 (5), 932-944, 2019
1632019
Heterogeneity of nemaline myopathy cases with skeletal muscle α‐actin gene mutations
PB Agrawal, CD Strickland, C Midgett, A Morales, DE Newburger, ...
Annals of neurology 56 (1), 86-96, 2004
1522004
Induced dystrophin exon skipping in human muscle explants
G Mcclorey, AM Fall, HM Moulton, PL Iversen, JE Rasko, M Ryan, ...
Neuromuscular Disorders 16 (9-10), 583-590, 2006
1492006
Outcome of noninvasive ventilation in children with neuromuscular disease
HK Young, A Lowe, DA Fitzgerald, C Seton, KA Waters, E Kenny, ...
Neurology 68 (3), 198-201, 2007
1462007
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