P915: Longitudinal motor unit number estimation in a spinal muscular atrophy cohort
Kaufmann, P, Kang, P.B, Gooch, C.L, McDermott, M.P, Darras, B.T, Finkel, R.S, Yang, M.L, Sproule, D.M, Chung, W.K, De Vivo, D.C, M.S.G. Pediatric Neuromuscular Clinical Research Network
Published in Clinical neurophysiology (01.06.2014)
Published in Clinical neurophysiology (01.06.2014)
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G.P.167
Connolly, A.M, Malkus, E.C, Schierbecker, J.R, Siener, C.A, Anand, P, Mendell, J.R, Flanigan, K.M, Golumbek, P.T, Zaidman, C.M, McDonald, C.M, Henricson, E, Johnson, L, Nicorici, A, Karachunski, P.I, Day, J.W, Kelecic, J.M, Lowes, L.P, Alfano, L.N, Darras, B.T, Kang, P.B, Florence, J.M
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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P.7.16 One year outcome assessment of young boys with DMD using the Bayley-III Scales of Infant and Toddler Development
Connolly, A.M, Florence, J.M, Cradock, M.M, Malkus, E.C, Schierbecker, J.R, Siener, C.A, Wulf, C.O, Anand, P, Golumbek, P.T, Zaidman, C.M, Lowes, L.P, Alfano, L.N, Viollet-Callendret, L, Flanigan, K.M, Mendell, J.R, McDonald, C.M, Goude, E, Johnson, L, Nicorici, A, Karachunski, P.I, Day, J.W, Dalton, J.C, Farber, J.M, Buser, K.K, Darras, B.T, Kang, P.B, Riley, S.O, Shriber, E, Parad, R, Bushby, K, Eagle, M, DMD, M.D.A
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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P1.33 Disease progression observed in clinical outcome measures in placebo-treated patients with nonsense mutation dystrophinopathy
Mercuri, E, Bushby, K, McDonald, C, Goemans, N, Muntoni, F, Darras, B.T, Elfring, G.L, Barth, J, Reha, A, Peltz, S.W
Published in Neuromuscular disorders : NMD (01.10.2011)
Published in Neuromuscular disorders : NMD (01.10.2011)
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M.P.4.05 Electrical impedance myography for non-invasive quantification of spinal muscular atrophy
Darras, B.T, Lin, C, Fogerson, P, Butler, H, Caracciolo, J, Rutkove, S.B
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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T.P.1.08 Validation of the Expanded Hammersmith Functional Motor Scale in SMA types II and III
Glanzman, A.M, O’Hagen, J.M, McDermott, M.P, Martens, W.F, Ryan, P.A, Flickinger, J.F, Quigley, J, Riley, S, Montes, J, Chung, W.K, Deng, L, Darras, B.T, De Vivo, D.C, Kaufmann, P, Finkel, R.S
Published in Neuromuscular disorders : NMD (01.10.2008)
Published in Neuromuscular disorders : NMD (01.10.2008)
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Phosphorylated neurofilament heavy chain (PNF-H) and motor function achievement in nusinersen-treated individuals with spinal muscular atrophy (SMA)
Sumner, C.J., Darras, B.T., Muntoni, F., Crawford, T.O., Finkel, R.S., Mercuri, E., De Vivo, D.C., Oskoui, M., Tizzano, E.F., Ryan, M.M., Liu, Y., Petrillo, M., Stebbins, C., Koenig, E., Fradette, S., Farwell, W.
Published in Journal of the neurological sciences (15.10.2019)
Published in Journal of the neurological sciences (15.10.2019)
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Interim report on the safety and efficacy of longer-term treatment with nusinersen in later-onset spinal muscular atrophy (SMA): Results from the shine study
Kirschner, J., Darras, B.T., Farrar, M.A., Mercuri, E., Chiriboga, C.A., Kuntz, N.L., Shieh, P.B., Tulinius, M., Montes, J., Reyna, S.P., Gambino, G., Foster, R., Bhan, I., Wong, J., Farwell, W.
Published in Journal of the neurological sciences (15.10.2019)
Published in Journal of the neurological sciences (15.10.2019)
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Intrathecal administration of AVXS-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 2 (SMA2): Phase 1/2A study (strong)
Finkel, R.S., Day, J.W., Darras, B.T., Kuntz, N.L., Connolly, A.M., Crawford, T.O., Butterfield, R.J., Shieh, P.B., Tennekoon, G., Iannaccone, S.T., Meriggioli, M., Ogrinc, F.G., Kavanagh, S., Kernbauer, E., Whittle, J., L'Italien, J., Kaspar, B., Sproule, D.M., Spector, S.A., Feltner, D.E., Mendell, J.R.
Published in Journal of the neurological sciences (15.10.2019)
Published in Journal of the neurological sciences (15.10.2019)
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Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): Global pivotal phase 3 study program (STR1VE-US, STR1VE-EU, STR1VE-AP)
Mercuri, E., Baranello, G., Day, J.W., Bruno, C., Corti, S., Chiriboga, C.A., Crawford, T.O., Darras, B.T., Finkel, R.S., Connolly, A.M., Iannaccone, S.T., Kuntz, N.L., Masson, R., Peña, L.D.M., Baldinetti, F., Schultz, M., Shieh, P.B., Smith, E.C., Saito, K., Scoto, M., Spector, S.A., Truncated, A. Authors, Sproule, D.M., Mendell, J.R., Muntoni, F.
Published in Journal of the neurological sciences (15.10.2019)
Published in Journal of the neurological sciences (15.10.2019)
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G.P.167: Clinical trial readiness for non-ambulatory boys and men with Duchenne muscular dystrophy: 12 and 24 month follow-up from the MDA–DMD Network
Connolly, A.M., Malkus, E.C., Schierbecker, J.R., Siener, C.A., Anand, P., Mendell, J.R., Flanigan, K.M., Golumbek, P.T., Zaidman, C.M., McDonald, C.M., Henricson, E., Johnson, L., Nicorici, A., Karachunski, P.I., Day, J.W., Kelecic, J.M., Lowes, L.P., Alfano, L.N., Darras, B.T., Kang, P.B., Florence, J.M.
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Atypical presentations of spinal muscular atrophy type III (Kugelberg–Welander disease)
Kang, P.B., Krishnamoorthy, K.S., Jones, R.M., Shapiro, F.D., Darras, B.T.
Published in Neuromuscular disorders : NMD (01.08.2006)
Published in Neuromuscular disorders : NMD (01.08.2006)
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G.P.1 05 The clinical spectrum of glycogen storage disease type IV (Andersen disease)
Raju, G.P., Li, S.-C., Bali, D.S., Anderson, J., McAlmon, K.R., Kim, H.B., Jonas, M.M., Smoot, L.B., Chen, Y.-T., Urion, D.K., Darras, B.T., Lidov, H.G.W., Kang, P.B.
Published in Neuromuscular disorders : NMD (01.10.2006)
Published in Neuromuscular disorders : NMD (01.10.2006)
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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)
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The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4
Hsieh, C.-L., Donlon, T.A., Darras, B.T., Chang, D.D., Topper, J.N., Clayton, D.A., Francke, U.
Published in Genomics (San Diego, Calif.) (01.03.1990)
Published in Genomics (San Diego, Calif.) (01.03.1990)
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