Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy
Montes, J, McDermott, M P, Martens, W B, Dunaway, S, Glanzman, A M, Riley, S, Quigley, J, Montgomery, M J, Sproule, D, Tawil, R, Chung, W K, Darras, B T, De Vivo, D C, Kaufmann, P, Finkel, R S
Published in Neurology (09.03.2010)
Published in Neurology (09.03.2010)
Get more information
Journal Article
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation
Anselm, I A, Sweadner, K J, Gollamudi, S, Ozelius, L J, Darras, B T
Published in Neurology (04.08.2009)
Published in Neurology (04.08.2009)
Get more information
Journal Article
Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation
Gorman, M P, Golomb, M R, Walsh, L E, Hobson, G M, Garbern, J Y, Kinkel, R P, Darras, B T, Urion, D K, Eksioglu, Y Z
Published in Neurology (17.04.2007)
Published in Neurology (17.04.2007)
Get more information
Journal Article
A novel mutation in two families with limb-girdle muscular dystrophy type 2C
Duncan, D R, Kang, P B, Rabbat, J C, Briggs, C E, Lidov, H G W, Darras, B T, Kunkel, L M
Published in Neurology (11.07.2006)
Published in Neurology (11.07.2006)
Get more information
Journal Article
S12 Onasemnogene abeparvovec gene therapy for spinal muscular atrophy type 1: phase 3 study (STR1VE-US)
Finkel, RS, Connolly, AM, Darras, BT, Iannaccone, ST, Kuntz, NL, Peña, LDM, Smith, EC, Chiriboga, CA, Crawford, TO, Shieh, PB, Kwon, JM, Zaidman, CM, Schultz, M, Kausar, I, Chand, D, Tauscher-Wisniewski, S, Ouyang, H, Macek, TA, Mendell, JR
Published in Thorax (01.02.2021)
Published in Thorax (01.02.2021)
Get full text
Journal Article
S61 Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): preliminary pulmonary and ventilatory findings from the phase 3 study (STR1VE)
Shell, R, Day, JW, Chiriboga, CA, Crawford, TO, Darras, BT, Finkel, RS, Connolly, AM, Iannaccone, ST, Kuntz, NL, Peña, LDM, Shieh, PB, Smith, EC, Kausar, I, Schultz, M, Feltner, DE, Ogrinc, FG, Macek, TA, Kernbauer, E, L’Italien, J, Sproule, DM, Kaspar, BK, Mendell, JR
Published in Thorax (01.12.2019)
Published in Thorax (01.12.2019)
Get full text
Journal Article
Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile
Bönnemann, C.G., Wong, J., Jones, K.J., Lidov, H.G.W., Feener, C.A., Shapiro, F., Darras, B.T., Kunkel, L.M., North, K.N.
Published in Neuromuscular disorders : NMD (01.03.2002)
Published in Neuromuscular disorders : NMD (01.03.2002)
Get full text
Journal Article
Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations
DARRAS, B. T, BLATTNER, P, HARPER, J. F, SPIRO, A. J, ALTER, S, FRANCKE, U
Published in American journal of human genetics (01.11.1988)
Get full text
Published in American journal of human genetics (01.11.1988)
Journal Article
B.01 AVXS-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update
Day, JW, Chiriboga, CA, Crawford, TO, Darras, BT, Finkel, RS, Connolly, AM, Iannaccone, ST, Kuntz, NL, Pena, LD, Schultz, M, Shieh, PB, Smith, EC, Feltner, DE, Ogrinc, FG, Macek, TA, Kernbauer, E, Muehring, LM, L’Italien, J, Sproule, DM, Kaspar, BK, Mendell, JR
Published in Canadian journal of neurological sciences (01.06.2019)
Published in Canadian journal of neurological sciences (01.06.2019)
Get full text
Journal Article