دنبال کردن
Basil T. Darras
Basil T. Darras
Professor of Neurology, Harvard Medical School
ایمیل تأیید شده در childrens.harvard.edu
عنوان
نقل شده توسط
نقل شده توسط
سال
Nusinersen versus sham control in infantile-onset spinal muscular atrophy
RS Finkel, E Mercuri, BT Darras, AM Connolly, NL Kuntz, J Kirschner, ...
New England Journal of Medicine 377 (18), 1723-1732, 2017
22862017
Nusinersen versus sham control in later-onset spinal muscular atrophy
E Mercuri, BT Darras, CA Chiriboga, JW Day, C Campbell, AM Connolly, ...
New England Journal of Medicine 378 (7), 625-635, 2018
14222018
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
M Koenig, AH Beggs, M Moyer, S Scherpf, K Heindrich, T Bettecken, ...
American journal of human genetics 45 (4), 498, 1989
13091989
Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy
CA Chiriboga, KJ Swoboda, BT Darras, ST Iannaccone, J Montes, ...
Neurology 86 (10), 890-897, 2016
7052016
Observational study of spinal muscular atrophy type I and implications for clinical trials
RS Finkel, MP McDermott, P Kaufmann, BT Darras, WK Chung, ...
Neurology 83 (9), 810-817, 2014
6232014
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
LM Kunkel, co-authors
Nature 322 (6074), 73-77, 1986
5911986
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
4752017
Dystrophinopathies
BT Darras, CC Menache-Starobinski, V Hinton, LM Kunkel
Neuromuscular disorders of Infancy, childhood, and adolescence, 551-592, 2015
434*2015
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm …
JW Day, RS Finkel, CA Chiriboga, AM Connolly, TO Crawford, BT Darras, ...
The Lancet Neurology 20 (4), 284-293, 2021
4272021
Natural history of infantile‐onset spinal muscular atrophy
SJ Kolb, CS Coffey, JW Yankey, K Krosschell, WD Arnold, SB Rutkove, ...
Annals of neurology 82 (6), 883-891, 2017
4052017
Risdiplam in type 1 spinal muscular atrophy
G Baranello, BT Darras, JW Day, N Deconinck, A Klein, R Masson, ...
New England Journal of Medicine 384 (10), 915-923, 2021
3762021
An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients
JM O’Hagen, AM Glanzman, MP McDermott, PA Ryan, J Flickinger, ...
Neuromuscular Disorders 17 (9-10), 693-697, 2007
3492007
Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1/2 studies
BT Darras, CA Chiriboga, ST Iannaccone, KJ Swoboda, J Montes, ...
Neurology 92 (21), e2492-e2506, 2019
2922019
Spinal muscular atrophies
BT Darras, JA Markowitz, UR Monani, C Darryl
Neuromuscular disorders of infancy, childhood, and adolescence, 117-145, 2015
2892015
Revised upper limb module for spinal muscular atrophy: development of a new module
ES Mazzone, A Mayhew, J Montes, D Ramsey, L Fanelli, SD Young, ...
Muscle & nerve 55 (6), 869-874, 2017
2802017
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin–binding protein, cofilin-2
PB Agrawal, RS Greenleaf, KK Tomczak, VL Lehtokari, ...
The American Journal of Human Genetics 80 (1), 162-167, 2007
2702007
Prospective cohort study of spinal muscular atrophy types 2 and 3
P Kaufmann, MP McDermott, BT Darras, RS Finkel, DM Sproule, PB Kang, ...
Neurology 79 (18), 1889-1897, 2012
2612012
Spinal muscular atrophy
E Mercuri, CJ Sumner, F Muntoni, BT Darras, RS Finkel
Nature Reviews Disease Primers 8 (1), 52, 2022
2562022
Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening
J Glascock, J Sampson, A Haidet-Phillips, A Connolly, B Darras, J Day, ...
Journal of neuromuscular diseases 5 (2), 145-158, 2018
2492018
Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls
BT Darras, R Masson, M Mazurkiewicz-Bełdzińska, K Rose, H Xiong, ...
New England Journal of Medicine 385 (5), 427-435, 2021
2402021
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مقاله‌ها 1–20