Publications

Professor of Neurology, of Pediatrics (Genetics) and, by Courtesy, of Pathology at the Stanford University Medical Center

Publications

  • Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease GENETICS IN MEDICINE Kishnani, P. S., Gibson, J. B., Gambello, M. J., Hillman, R., Stockton, D. W., Kronn, D., Leslie, N. D., Pena, L. M., Tanpaiboon, P., Day, J. W., Wang, R. Y., Goldstein, J. L., Haack, K., Sparks, S. E., Zhao, Y., Hahn, S., Pompe ADVANCE Study Consortium 2019; 21 (11): 2543–51
  • The revised Hammersmith scale (RHS) for spinal muscular atrophy: longitudinal trajectories in a large international cohort of patients with type 2 and 3 SMA Ramsey, D., Scoto, M., Mayhew, A., Lofra, R., Main, M., Milev, E., Mazzone, E., Montes, J., Glanzman, A., Pasternak, A., Duong, T., Civitello, M., Coratti, G., Straub, V., Day, J., Darras, B., De Vivo, D., Finkel, R., Mercuri, E., Muntoni, F. PERGAMON-ELSEVIER SCIENCE LTD. 2019: S131
  • RAINBOWFISH: A study of risdiplam (RG7916) in newborns with pre-symptomatic spinal muscular atrophy (SMA) Bertini, E., Day, J., Muhaizea, M., Xiong, H., Servais, L., Prufer, A., Tichy, M., Yeung, W., Gorni, K. PERGAMON-ELSEVIER SCIENCE LTD. 2019: S187
  • A clinical outcome study for dysferlinopathy: biobanking samples collected through a collaborative international multisite study Hilsden, H., Moore, U., Cox, D., Day, J., Jones, K., Bharucha-Goebel, D., Pestronk, A., Walter, M., Stojkovic, T., Bravver, E., Mendell, J., Rufibach, L., Paradas, C., Diaz-Manera, J., Pegoraro, E., Straub, V. PERGAMON-ELSEVIER SCIENCE LTD. 2019: S98
  • Intrathecal administration of onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 2 (SMA2): phase 1/2a study (STRONG) Finkel, R., Day, J., Darras, B., Kuntz, N., Connolly, A., Crawford, T., Butterfield, R., Shieh, P., Tennekoon, G., Iannaccone, S., Ogrinc, F., Kavanagh, S., Kernbauer, E., Whittle, J., L'Italien, J., Kaspar, B., Sproule, D., Spector, S., Feltner, D., Mendell, J. PERGAMON-ELSEVIER SCIENCE LTD. 2019: S207
  • JEWELFISH: safety and pharmacodynamic data in patients with spinal muscular atrophy (SMA) receiving treatment with risdiplam (RG7916) that have previously been treated with nusinersen Chiriboga, C., Mercuri, E., Fischer, D., Day, J., Kraus, D., Yeung, W., Kletzl, H., Gerber, M., Cleary, Y., Gorni, K. PERGAMON-ELSEVIER SCIENCE LTD. 2019: S187
  • The RESTORE registry: a resource for measuring and improving spinal muscular atrophy (SMA) outcomes Servais, L., Day, J., De Vivo, D., Kirschner, J., Mercuri, E., Muntoni, F., Shieh, P., Tizzano, E., Droege, M., Dabbous, O., Khan, F., Anderson, F., Finkel, R. PERGAMON-ELSEVIER SCIENCE LTD. 2019: S195
  • Trajectories of disease progression in ambulant and non ambulant SMA: 12 month follow-up Mercuri, E., Coratti, G., Pera, M., Scoto, M., Goemans, N., Pane, M., D'amico, A., Sansone, V., Messina, S., Nascimiento, A., Bertini, E., Finkel, R., Darras, B., De Vivo, D., Day, J., Muntoni, F. PERGAMON-ELSEVIER SCIENCE LTD. 2019: S131
  • Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy Type 1 (SMA1): Pivotal phase 3 study (STR1VE) update Day, J., Chiriboga, C., Crawford, T., Darras, B., Finkel, R., Connolly, A., Iannaccone, S., Kuntz, N., Pena, L., Schultz, M., Shieh, P., Smith, E., Feltner, D., Ogrinc, F., Ouyang, H., Macek, T., Kernbauer, E., Sproule, D., Mendell, J. PERGAMON-ELSEVIER SCIENCE LTD. 2019: S183
  • FIREFISH Part 1: 16-month safety and exploratory outcomes of risdiplam (RG7916) treatment in infants with type 1 spinal muscular atrophy Baranello, G., Servais, L., Day, J., Deconinck, N., Mercuri, E., Klein, A., Darras, B., Masson, R., Kletzl, H., Cleary, Y., El-Khairi, M., Seabrook, T., Czech, C., Gerber, M., Nguyen, C., Gelblin, K., Gorni, K. PERGAMON-ELSEVIER SCIENCE LTD. 2019: S184
  • Nusinersen experience in teenagers and young adults with spinal muscular atrophy (SMA): Results from CS2/CS12 and SHINE Deconinck, N., Darras, B. T., Day, J. W., Chiriboga, C. A., Iannaccone, S. T., Swoboda, K. J., Finkel, R. S., Tulinius, M., Saito, K., Montes, J., Mignon, L., Sun, P., Bhan, I., Gheuens, S., Bevernage, S. P., Farwell, W., De Vivo, D. C. WILEY. 2019: 143–44
  • FIREFISH Part 1: survival, ventilation and swallowing ability in infants with type 1 spinal muscular atrophy (SMA) treated with risdiplam (RG7916) Vlodavets, D., Servais, L., Baranello, G., Day, J. W., Deconinck, N., Mercuri, E., Klein, A., Darras, B., Masson, R., Kletzl, H., Cleary, Y., El-Khairi, M., Seabrook, T., Czech, C., Gerber, M., Nguyen, C., Gelblin, K., Gorni, K., Khwaja, O. WILEY. 2019: 310–11
  • The RESTORE Registry: a resource for measuring and improving Spinal Muscular Atrophy (SMA) outcomes Servais, L., Day, J. W., De Vivo, D. C., Kirschner, J., Mercuri, E., Muntoni, F., Shieh, P. B., Tizzano, E., Droege, M., Dabbous, O., Khan, F., Anderson, F. A., Finkel, R. S. WILEY. 2019: 437
  • RAINBOWFISH: a study of risdiplam (RG7916) in infants with pre-symptomatic spinal muscular atrophy (SMA) Bertini, E., Day, J. W., Al Muhaizea, M., Xiong, H., Servais, L., Prufer, A., Buchbjerg, J., Yeung, W. Y., Gorni, K., Khwaja, O. WILEY. 2019: 445
  • AVXS-101 gene replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal studies clinical update (STR1VE-EU and STR1VE) 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., Pena, L. D., Schultz, M., Shieh, P. B., Smith, E. C., Feltner, D. E., Ouyang, H., Lavrov, A., Truncated, A., L'italien, J., Sproule, D. M., Mendell, J. R., Muntoni, F. WILEY. 2019: 224–25
  • Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy. Journal of pharmacokinetics and pharmacodynamics Conrado, D. J., Larkindale, J., Berg, A., Hill, M., Burton, J., Abrams, K. R., Abresch, R. T., Bronson, A., Chapman, D., Crowther, M., Duong, T., Gordish-Dressman, H., Harnisch, L., Henricson, E., Kim, S., McDonald, C. M., Schmidt, S., Vong, C., Wang, X., Wong, B. L., Yong, F., Romero, K., Duchenne Muscular Dystrophy Regulatory Science Consortium (D-RSC), Vishwanathan, V., Chidambaranathan, S., Douglas Biggar, W., McAdam, L. C., Mah, J. K., Tulinius, M., Cnaan, A., Morgenroth, L. P., Leshner, R., Tesi-Rocha, C., Thangarajh, M., Duong, T., Kornberg, A., Ryan, M., Nevo, Y., Dubrovsky, A., Clemens, P. R., Abdel-Hamid, H., Connolly, A. M., Pestronk, A., Teasley, J., Bertorini, T. E., Webster, R., Kolski, H., Kuntz, N., Driscoll, S., Bodensteiner, J. B., Gorni, K., Lotze, T., Day, J. W., Karachunski, P., Henricson, E. K., Abresch, R. T., Joyce, N. C., McDonald, C. M., McDonald, C. M., Campbell, C., Torricelli, R. E., Finkel, R. S., Flanigan, K. M., Goemans, N., Heydemann, P., Kaminska, A., Kirschner, J., Muntoni, F., Osorio, A. N., Schara, U., Sejersen, T., Shieh, P. B., Sweeney, H. L., Topaloglu, H., Tulinius, M., Vilchez, J. J., Voit, T., Wong, B., Alfano, L. N., Eagle, M., James, M. K., Lowes, L., Mayhew, A., Mazzone, E. S., Nelson, L., Rose, K. J., Abdel-Hamid, H. Z., Apkon, S. D., Barohn, R. J., Bertini, E., Bloetzer, C., deVaud, L. C., Butterfield, R. J., Chabrol, B., Chae, J. H., Jongno-Gu, D. R., Comi, G. P., Darras, B. T., Dastgir, J., Desguerre, I., Escobar, R. G., Finanger, E., Guglieri, M., Hughes, I., Iannaccone, S. T., Jones, K. J., Karachunski, P., Kudr, M., Lotze, T., Mah, J. K., Mathews, K., Nevo, Y., Parsons, J., Pereon, Y., de Queiroz Campos Araujo, A. P., Renfroe, J. B., de Resende, M. B., Ryan, M., Selby, K., Tennekoon, G., Vita, G., Abdel-Hamid, H., Apkon, S., Barohn, R., Belousova, E., Bertini, E., Brandsema, J., Bruno, C., Burnette, W., Butterfield, R., Byrne, B., Campbell, C., Carlo, J., Chae, J. H., Chandratre, S., Comi, G., Connolly, A., De Groot I, I., Deconinck, N., Dooley, J., Dubrovsky, A., Durigneux, J., Finanger, E., Finkel, R., Frank, L. M., Goemans, N., Harper, A., Hattori, A., Herguner, O., Iannaccone, S., Janas, J., Jong, Y. J., Kirschner, J., Komaki, H., Kuntz, N., Lee, W. T., Leung, E., Mah, J., Mathews, K., McDonald, C. M., Mercuri, E., McMillan, H., Mueller-Felber, W., de Munain A, L., Nakamura, A., Niks, E., Ogata, K., Pascual, S., Pegoraro, E., Pereon, Y., Renfroe, B., Sanka, R. B., Schallner, J., Schara, U., Selby, K., Sendra, I. I., Servais, L., Smith, E., Sparks, S., Topaloglu, H., Victor, R., Vilchez, J. J., Wicklund, M., Wilichoswki, E., Wong, B., Abresch, R. T., Carter, G. T., Henricson, E., McDonald, C. M. 2019

    Abstract

    Drug development for rare diseases is challenged by small populations and limited data. This makes development of clinical trial protocols difficult and contributes to the uncertainty around whether or not a potential therapy is efficacious. The use of data standards to aggregate data from multiple sources, and the use of such integrated databases to develop statistical models can inform protocol development and reduce the risks in developing new therapies. Achieving regulatory endorsement of such models through defined pathways at the US Food and Drug Administration and European Medicines Authority allows such tools to be used by the drug development community for defined contexts of use without further need for discussion of the underlying model(s). The Duchenne Regulatory Science Consortium (D-RSC) has brought together multiple stakeholders to develop a clinical trial simulation tool for Duchenne muscular dystrophy using such an approach. Here we describe the work of D-RSC as an example of how such an approach may be effective at reducing uncertainty in drug development for rare diseases, and thus bringing effective therapies to patients faster.

    View details for DOI 10.1007/s10928-019-09642-7

    View details for PubMedID 31127458

  • Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. Genetics in medicine : official journal of the American College of Medical Genetics Kishnani, P. S., Gibson, J. B., Gambello, M. J., Hillman, R., Stockton, D. W., Kronn, D., Leslie, N. D., Pena, L. D., Tanpaiboon, P., Day, J. W., Wang, R. Y., Goldstein, J. L., An Haack, K., Sparks, S. E., Zhao, Y., Hahn, S. H., Pompe ADVANCE Study Consortium 2019

    Abstract

    PURPOSE: To characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000L-scale alglucosidase alfa (NCT01526785), the largest prospective United States Pompe disease cohort to date.METHODS: Patients aged ≥1 year with confirmed Pompe disease previously receiving 160L alglucosidase alfa were eligible. GAA genotypes were determined before/at enrollment. Baseline assessments included histories/physical exams, Gross Motor Function Measure-88 (GMFM-88), pulmonary function tests, and cardiac assessments.RESULTS: Of 113 enrollees (60 male/53 female) aged 1-18 years, 87 had infantile-onset Pompe disease (IOPD) and 26 late-onset (LOPD). One hundred eight enrollees with GAA genotypes had 215 pathogenic variants (220 including combinations): 118 missense (4 combinations), 23 splice, 35 nonsense, 34 insertions/deletions, 9 duplications (1 combination), 6 other; c.2560C>T (n=23), c.-32-13T>G (n=13), and c.525delT (n=12) were most common. Four patients had previously unpublished variants, and 14/83 (17%) genotyped IOPD patients were cross-reactive immunological material-negative. All IOPD and 6/26 LOPD patients had cardiac involvement, all without c.-32-13T>G. Thirty-two (26 IOPD, 6 LOPD) were invasively ventilated. GMFM-88 total %scores (mean±SD, median, range): overall 46.3±33.0% (47.9%, 0.0-100.0%), IOPD 41.6±31.64% (38.9%, 0.0-99.7%), LOPD: 61.8±33.2 (70.9%, 0.0-100.0%).CONCLUSION: ADVANCE, a uniformly assessed cohort comprising most US children and adolescents with treated Pompe disease, expands understanding of the phenotype and observed variants in the United States.

    View details for PubMedID 31086307

  • Transcriptome alterations in myotonic dystrophy skeletal muscle and heart HUMAN MOLECULAR GENETICS Wang, E. T., Treacy, D., Eichinger, K., Struck, A., Estabrook, J., Olafson, H., Wang, T. T., Bhatt, K., Westbrook, T., Sedehizadeh, S., Ward, A., Day, J., Brook, D., Berglund, J., Cooper, T., Housman, D., Thornton, C., Burge, C. 2019; 28 (8): 1312–21

    View details for DOI 10.1093/hmg/ddy432

    View details for Web of Science ID 000467482600007

  • Nusinersen Efficacy in Adults with Spinal Muscular Atrophy Day, J., Wolford, C., MacPherson, C., Martens, W., McDermott, M., Darras, B., De Vivo, D., Cunningham, Z., Finkel, R., Zeineh, M., Sampson, J., Hagerman, K., Duong, T. LIPPINCOTT WILLIAMS & WILKINS. 2019
  • Phase 1 Study of Intrathecal Administration of AVXS-101 Gene-Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 2 (SMA2) (STRONG) Finkel, R. S., Day, J. W., Darras, B. T., Kuntz, N. L., Connolly, A. M., Crawford, T., Butterfield, R. J., Shieh, P. B., Tennekoon, G., Iannaccone, S. T., Meriggioli, M., Spector, S. A., Ogrinc, F. G., L'Italien, J., Wells, C., Kaspar, B., Sproule, D. M., Feltner, D. E., Mendell, J. R. LIPPINCOTT WILLIAMS & WILKINS. 2019
  • Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy Through Newborn Screening Glascock, J., Sampson, J., Haidet-Phillips, A., Connolly, A., Darras, B., Day, J., Finkel, R., Howell, R., Klinger, K., Kuntz, N., Prior, T., Shieh, P., Crawford, T., Kerr, D., Jarecki, J. LIPPINCOTT WILLIAMS & WILKINS. 2019
  • AVXS-101 Gene-Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update Day, J. W., Chiriboga, C. A., Crawford, T. O., Darras, B. T., Finkel, R. S., Connolly, A. M., Iannaccone, S. T., Kuntz, N. L., Pena, L. M., Schultz, M., Shieh, P. B., Smith, E. C., Feltner, D. E., Ogrinc, F. G., Macek, T. A., Wells, C., Muehring, L. M., L'Italien, J., Sproule, D. M., Kaspar, B. K., Mendell, J. R. LIPPINCOTT WILLIAMS & WILKINS. 2019
  • FIREFISH Part 1: Survival, Ventilation and Swallowing Ability in Infants with Type 1 SMA Receiving Risdiplam (RG7916) Servais, L., Baranello, G., Day, J. W., Deconinck, N., Mercuri, E., Klein, A., Darras, B., Masson, R., Kletzl, H., Cleary, Y., El-Khairi, M., Seabrook, T., Czech, C., Gerber, M., Nguyen, C., Gelblin, K., Gorni, K., Khwaja, O. LIPPINCOTT WILLIAMS & WILKINS. 2019
  • FIREFISH Part 1: 1-Year Results on Motor Function in Babies with Type 1 SMA Baranello, G., Servais, L., Day, J. W., Deconinck, N., Mercuri, E., Klein, A., Darras, B., Masson, R., Kletzl, H., Cleary, Y., El-Khairi, M., Seabrook, T., Czech, C., Gerber, M., Nguyen, C., Gelblin, K., Gorni, K., Khwaja, O. LIPPINCOTT WILLIAMS & WILKINS. 2019
  • Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. Journal of neuromuscular diseases Tao, F., Beecham, G. W., Rebelo, A. P., Blanton, S. H., Moran, J. J., Lopez-Anido, C., Svaren, J., Abreu, L., Rizzo, D., Kirk, C. A., Wu, X., Feely, S., Verhamme, C., Saporta, M. A., Herrmann, D. N., Day, J. W., Sumner, C. J., Lloyd, T. E., Li, J., Yum, S. W., Taroni, F., Baas, F., Choi, B., Pareyson, D., Scherer, S. S., Reilly, M. M., Shy, M. E., Zuchner, S., Inherited Neuropathy Consortium 2019

    Abstract

    BACKGROUND: Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a uniform 1.5-Mb duplication on chromosome 17p, which includes the PMP22 gene. Patients often present the classic neuropathy phenotype, but also with high clinical variability.OBJECTIVE: We aimed to identify genetic variants that are potentially associated with specific clinical outcomes in CMT1A.METHODS: We genotyped over 600,000 genomic markers using DNA samples from 971 CMT1A patients and performed a case-only genome-wide association study (GWAS) to identify potential genetic association in a subset of 644 individuals of European ancestry. A total of 14 clinical outcomes were analyzed in this study.RESULTS: The analyses yielded suggestive association signals in four clinical outcomes: difficulty with eating utensils (lead SNP rs4713376, chr6 : 30773314, P = 9.91*10-7, odds ratio = 3.288), hearing loss (lead SNP rs7720606, chr5 : 126551732, P = 2.08*10-7, odds ratio = 3.439), decreased ability to feel (lead SNP rs17629990, chr4 : 171224046, P = 1.63*10-7, odds ratio = 0.336), and CMT neuropathy score (lead SNP rs12137595, chr1 : 4094068, P = 1.14*10-7, beta = 3.014).CONCLUSIONS: While the results require validation in future genetic and functional studies, the detected association signals may point to novel genetic modifiers in CMT1A.

    View details for PubMedID 30958311

  • Revised upper limb module for spinal muscular atrophy: 12 month changes MUSCLE & NERVE Pera, M., Coratti, G., Mazzone, E. S., Montes, J., Scoto, M., De Sanctis, R., Main, M., Mayhew, A., Lofra, R., Young, S., Glanzman, A. M., Duong, T., Pasternak, A., Ramsey, D., Darras, B., Day, J. W., Finkel, R. S., De Vivo, D. C., Sormani, M., Bovis, F., Straub, V., Muntoni, F., Pane, M., Mercuri, E., Bettolo, C., Civitiello, M., Mirek, E., Salazar, R., Forcina, N., Norcia, G., Carnicella, S., Antonaci, L., ISMAC Consortium Grp 2019; 59 (4): 426–30

    View details for DOI 10.1002/mus.26419

    View details for Web of Science ID 000461232700011

  • Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A ANNALS OF NEUROLOGY Tao, F., Beecham, G. W., Rebelo, A. P., Svaren, J., Blanton, S. H., Moran, J. J., Lopez-Anido, C., Morrow, J. M., Abreu, L., Rizzo, D., Kirk, C. A., Wu, X., Feely, S., Verhamme, C., Saporta, M. A., Herrmann, D. N., Day, J. W., Sumner, C. J., Lloyd, T. E., Li, J., Yum, S. W., Taroni, F., Baas, F., Choi, B., Pareyson, D., Scherer, S. S., Reilly, M. M., Shy, M. E., Zuechner, S., Lewis, R., Acsadi, G., Finkel, R., Fridman, V., Ramchandren, S., Walk, D., Logigian, E., Stanton, M., Eichinger, K., Guntrum, D., Gibson, C., Burns, J., Moroni, I., Pisciotta, C., Laura, M., Muntoni, F., Sowden, J. E., Mountain, J., Bai, Y., Bacon, C., Gutmann, L., Grider, T., Phetteplace, J., Seyedsadjadi, R., Houlden, H., Cortese, A., Pandraud, A., Calabrese, D., Saveri, P., Richardson, J., Dankwa, L., Lee, D., Siskind, C., Maciel, R., Bis, D., Inherited Neuropathy Consortium 2019; 85 (3): 316–30

    View details for DOI 10.1002/ana.25426

    View details for Web of Science ID 000459920600003

  • Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A. Annals of neurology Tao, F., Beecham, G. W., Rebelo, A. P., Blanton, S. H., Moran, J. J., Lopez-Anido, C., Svaren, J., Morrow, J. M., Abreu, L., Rizzo, D., Kirk, C. A., Wu, X., Feely, S., Verhamme, C., Saporta, M. A., Herrmann, D. N., Day, J. W., Sumner, C. J., Lloyd, T. E., Li, J., Yum, S. W., Taroni, F., Baas, F., Choi, B., Pareyson, D., Scherer, S. S., Reilly, M. M., Shy, M. E., Zuchner, S., Inherited Neuropathy Consortium 2019

    Abstract

    OBJECTIVE: Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot-Marie-Tooth disease type 1A (CMT1A). To address this question the Inherited Neuropathy Consortium collected a large standardized sample of such rare CMT1A patients over a period of eight years. CMT1A is caused in most patients by a uniformly sized 1.5Mb duplication event involving the gene PMP22.METHODS: We genotyped DNA samples from 971 CMT1A patients on Illumina beadchips. Genome-wide analysis was performed in a subset of 330 of these patients, who expressed the extremes of a hallmark symptom: mild and severe foot dorsiflexion strength impairment. SIPA1L2 (signal induced proliferation associated 1 like 2), the top identified candidate modifier gene, was expressed in the peripheral nerve and our functional studies identified and confirmed interacting proteins using co-immunoprecipitation analysis, mass spectrometry, and immunocytochemistry. Chromatin immunoprecipitation and in vitro siRNA experiments were used to analyze gene regulation.RESULTS: We identified significant association of four SNPs (rs10910527, rs7536385, rs4649265, rs1547740) in SIPA1L2 with foot dorsiflexion strength (P < 1*10-7 ). Co-immunoprecipitation and mass-spectroscopy studies identified beta-actin and MYH9 as SIPA1L2 binding partners. Further, we show that SIPA1L2 is part of a myelination-associated co-expressed network regulated by the master transcription factor SOX10. Importantly, in vitro knock-down of SIPA1L2 in Schwannoma cells lead to a significant reduction of PMP22 expression, hinting at a potential strategy for drug development.INTERPRETATION: offers a new pathway to therapeutic interventions. This article is protected by copyright. All rights reserved.

    View details for PubMedID 30706531

  • Assessment of disease progression in dysferlinopathy: A 1-year cohort study NEUROLOGY Moore, U., Jacobs, M., James, M. K., Mayhew, A. G., Fernandez-Torron, R., Feng, J., Cnaan, A., Eagle, M., Bettinson, K., Rufibach, L. E., Lofra, R., Blamire, A. M., Carlier, P. G., Mittal, P., Lowes, L., Alfano, L., Rose, K., Duong, T., Berry, K. M., Montiel-Morillo, E., Pedrosa-Hernandez, I., Holsten, S., Sanjak, M., Ashida, A., Sakamoto, C., Tateishi, T., Yajima, H., Canal, A., Ollivier, G., Decostre, V., Mendez, J., Praxedes, N., Thiele, S., Siener, C., Shierbecker, J., Florence, J. M., Vandevelde, B., DeWolf, B., Hutchence, M., Gee, R., Pruegel, J., Maron, E., Hilsden, H., Lochmueller, H., Grieben, U., Spuler, S., Rocha, C., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, E., Harms, M., Pestronk, A., Krause, S., Schreiber-Katz, O., Walter, M. C., Paradas, C., Hogrel, J., Stojkovic, T., Takeda, S., Mori-Yoshimura, M., Bravver, E., Sparks, S., Diaz-Manera, J., Bello, L., Semplicini, C., Pegoraro, E., Mendell, J. R., Bushby, K., Straub, V., Arrieta, A., Hwang, E., Lee, E., Illa, I., Gallardo, E., Belmonte Jimeno, I., Llauger Rossello, J., Harwick, B., Sykes, J., Yetter, B., Smith, M., Lapeyssonie, B., Bendahan, D., Le Fur, Y., Shahram, A., Albane, T., Coppenrath, E. M., Harris, E., Guglieri, M., Evangelista, T., Murphy, A., Moat, D., Hodgson, T., Wallace, D., Ward, L., Galley, D., Calore, C., Stramare, R., Rampado, A., Gidaro, T., Turk, S., Servais, L., Theis, C., Diabate, O., Schimmoeller, L., Foster, G., Carbonell, P., Cabrera, M., Morgado, Y., Gala, S., Perez, J., Sawyer, A., Clarke, N. F., Sandaradura, S., Ghaoui, R., Cornett, K., Miller, C., Foster, S., Peduto, A., Sato, N., Tamaru, T., Kobayashi, Y., Ashida, A., Nakayama, T., Segawa, K., Ohtaguro, S., Nakamura, H., Ohhata, M., Kimura, E., Endo, M., Brody, N., Leach, M. E., Toles, A., Fricke, S. T., Otero, H. J., Jain COS Consortium 2019; 92 (5): E461–E474
  • Revised Upper Limb Module for Spinal Muscular Atrophy: 12 month changes. Muscle & nerve Pera, M. C., Coratti, G., Mazzone, E. S., Montes, J., Scoto, M., De Sanctis, R., Main, M., Mayhew, A., Muni Lofra, R., Dunaway Young, S., Glanzman, A. M., Duong, T., Pasternak, A., Ramsey, D., Darras, B., Day, J. W., Finkel, R. S., De Vivo, D. C., Sormani, M. P., Bovis, F., Straub, V., Muntoni, F., Pane, M., Mercuri, E., iSMAC Consortium Group 2019

    Abstract

    INTRODUCTION: The aim of the study was to assess 12 month changes in upper limb function in patients affected by spinal muscular atrophy type 2 and 3.METHODS: Longitudinal 12 month data was collected in 114 patients, 60 type 2 and 54 type 3, using the Revised Upper Limb Module.RESULTS: The 12 month changes ranged between -7 and 9 (mean: -0.41; SD: 2.93). The mean changes were not significantly different between the three spinal muscular atrophy groups (-0.45 in type 2, -0.23 in non-ambulant type 3 and -0.34 in ambulant type 3, p=0.96) and the relationship between 12 month change and age classes was not significantly different among the three types of SMA patients.DISCUSSION: Our results confirm that the Module explores a wide range of functional abilities and can be used in ambulant and non-ambulant patients of different ages in conjunction with other functional scales. This article is protected by copyright. All rights reserved.

    View details for PubMedID 30677148

  • Assessment of disease progression in dysferlinopathy: A 1-year cohort study. Neurology Moore, U., Jacobs, M., James, M. K., Mayhew, A. G., Fernandez-Torron, R., Feng, J., Cnaan, A., Eagle, M., Bettinson, K., Rufibach, L. E., Lofra, R. M., Blamire, A. M., Carlier, P. G., Mittal, P., Lowes, L. P., Alfano, L., Rose, K., Duong, T., Berry, K. M., Montiel-Morillo, E., Pedrosa-Hernandez, I., Holsten, S., Sanjak, M., Ashida, A., Sakamoto, C., Tateishi, T., Yajima, H., Canal, A., Ollivier, G., Decostre, V., Mendez, J. B., Sanchez-Aguilera Praxedes, N., Thiele, S., Siener, C., Shierbecker, J., Florence, J. M., Vandevelde, B., DeWolf, B., Hutchence, M., Gee, R., Prugel, J., Maron, E., Hilsden, H., Lochmuller, H., Grieben, U., Spuler, S., Tesi Rocha, C., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, E., Harms, M., Pestronk, A., Krause, S., Schreiber-Katz, O., Walter, M. C., Paradas, C., Hogrel, J., Stojkovic, T., Takeda, S., Mori-Yoshimura, M., Bravver, E., Sparks, S., Diaz-Manera, J., Bello, L., Semplicini, C., Pegoraro, E., Mendell, J. R., Bushby, K., Straub, V., Jain COS Consortium 2019

    Abstract

    OBJECTIVE: To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.METHODS: One hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical Outcome Study for Dysferlinopathy. Baseline, 6-month, and 1-year assessments included adapted North Star Ambulatory Assessment (a-NSAA), Motor Function Measure (MFM-20), timed function tests, 6-minute walk test (6MWT), Brooke scale, Jebsen test, manual muscle testing, and hand-held dynamometry. Patients also completed the ACTIVLIM questionnaire. Change in each measure over 6 months and 1 year was calculated and compared between disease severity (ambulant [mild, moderate, or severe based on a-NSAA score] or nonambulant [unable to complete a 10-meter walk]) and clinical diagnosis.RESULTS: The functional a-NSAA test was the most sensitive to deterioration for ambulant patients overall. The a-NSAA score was the most sensitive test in the mild and moderate groups, while the 6MWT was most sensitive in the severe group. The 10-meter walk test was the only test showing significant change across all ambulant severity groups. In nonambulant patients, the MFM domain 3, wrist flexion strength, and pinch grip were most sensitive. Progression rates did not differ by clinical diagnosis. Power calculations determined that 46 moderately affected patients are required to determine clinical effectiveness for a hypothetical 1-year clinical trial based on the a-NSAA as a clinical endpoint.CONCLUSION: Certain functional outcome measures can detect changes over 6 months and 1 year in dysferlinopathy and potentially be useful in monitoring progression in clinical trials.CLINICALTRIALSGOV IDENTIFIER: NCT01676077.

    View details for PubMedID 30626655

  • AVXS-101 Gene Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update Shell, R., Day, J., Chiriboga, C., Crawford, T. O., Darras, B. T., Finkel, R., Connolly, A. M., Iannaccone, S. T., Kuntz, N. L., Pena, L. M., Schultz, M., Shieh, P. B., Smith, E. C., Feltner, D. E., Ogrinc, F. G., Macek, T. A., Wells, C., Muehring, L. M., L'Italien, J., Sproule, D. M., Kaspar, B. K., Mendell, J. R. AMER THORACIC SOC. 2019
  • Perspectives on Spinraza (Nusinersen) Treatment Study: Views of Individuals and Parents of Children Diagnosed with Spinal Muscular Atrophy. Journal of neuromuscular diseases Pacione, M., Siskind, C. E., Day, J. W., Tabor, H. K. 2018

    Abstract

    BACKGROUND: Spinal muscular atrophy (SMA) is a genetic disorder characterized by muscle loss. In December 2016 the FDA approved the first and only treatment drug for SMA: Spinraza (nusinersen). Despite excitement and optimism, there are no published data on the perceptions of individuals with SMA and their families about the benefits, risks, and challenges associated with treatment.OBJECTIVE: This qualitative interview study sought to characterize the perspectives of patients/families with SMA who did not want, or were unsure about, receiving this new innovative treatment for a previously untreatable and often fatal condition.METHODS: Individuals and families were recruited via advertisements on Facebook groups related to SMA and through the Stanford Neuromuscular Contact Registry. Participants completed a demographic questionnaire and participated in a semi-structured interview via voice conferencing. Interview questions focused on: 1) experiences with SMA, 2) opinions about Spinraza treatment, and 3) factors considered in decisions regarding treatment.RESULTS: Thirteen people were interviewed: ten adults with SMA (ages 27- 48, nine with Type II) and three parents of minor children with SMA (one each of Types I, II and III). Qualitative content analysis identified a range of opinions about Spinraza treatment: five were uninterested (2 adults, 3 parents), four adults were still deciding whether to pursue treatment, three adults were interested or in the process of pursuing treatment, and one adult was currently receiving the drug after overcoming significant reluctance. Participants described several key factors influencing their treatment decisions, including: concerns about risk factors and side effects, high cost, insurance coverage, time involvement, and lack of data about efficacy. Participants reported learning about most of these factors through parent/patient testimonials on SMA-specific social media groups.CONCLUSIONS: Participants reported basing decisions about pursuing Spinraza on a variety of practical and value-based considerations. They described carefully weighing the perceived potential benefits and risks of treatment through the lens of their current quality of life and prognosis. These findings suggest that providers should be aware that some patients and parents, especially those with Types II-IV, may approach treatment decisions differently than parents of children with SMA I. Informed treatment decisions can be supported through: 1) the collection and dissemination of better data on Spinraza treatment in these populations; 2) clear communication about risks, side effects and eligibility; 3) improved access to payment and treatment facilities; and 4) facilitation of discussions between providers and patients/families about identity and disability in the context of goals of care and other life and support challenges.

    View details for PubMedID 30594933

  • Consensus-based care recommendations for adults with myotonic dystrophy type 1 NEUROLOGY-CLINICAL PRACTICE Ashizawa, T., Gagnon, C., Groh, W. J., Gutmann, L., Johnson, N. E., Meola, G., Moxley, R., Pandya, S., Rogers, M. T., Simpson, E., Angeard, N., Bassez, G., Berggren, K. N., Bhakta, D., Bozzali, M., Broderick, A., Byrne, J. B., Campbell, C., Cup, E., Day, J. W., De Mattia, E., Duboc, D., Duong, T., Eichinger, K., Ekstrom, A., van Engelen, B., Esparis, B., Eymard, B., Ferschl, M., Gadalla, S. M., Gallais, B., Goodglick, T., Heatwole, C., Hilbert, J., Holland, V., Kierkegaard, M., Koopman, W. J., Lane, K., Maas, D., Mankodi, A., Mathews, K. D., Monckton, D. G., Moser, D., Nazarian, S., Nguyen, L., Nopoulos, P., Petty, R., Phetteplace, J., Puymirat, J., Raman, S., Richer, L., Roma, E., Sampson, J., Sansone, V., Schoser, B., Sterling, L., Statland, J., Subramony, S. H., Tian, C., Trujillo, C., Tomaselli, G., Turner, C., Venance, S., Verma, A., White, M., Winblad, S., Myotonic Dystrophy Fdn 2018; 8 (6): 507–20

    Abstract

    Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit.The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations.The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments.

    View details for DOI 10.1212/CPJ.0000000000000531

    View details for Web of Science ID 000456290100016

    View details for PubMedID 30588381

    View details for PubMedCentralID PMC6294540

  • Zero incidence of adeno-associated virus serotype 9 (AAV9) antibodies in a cohort of spinal muscular atrophy (SMA) type 1 patients screened in STR1VE, a pivotal phase 3 study of AVXS-101 Day, J. W., Chiriboga-Klein, C. A., Crawford, T., Darras, B. T., Finkel, R. S., Connolly, A. M., Iannaccone, S. T., Kuntz, N. L., Pena, L. M., Schultz, M., Shieh, P. B., Smith, E. C., Ogrinc, F., Wells, C., Feltner, D., Sproule, D., Mendell, J. R. MARY ANN LIEBERT, INC. 2018: A82–A83
  • Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY Moore, U. R., Jacobs, M., Fernandez-Torron, R., Jang, J., James, M. K., Mayhew, A., Rufibach, L., Mittal, P., Eagle, M., Cnaan, A., Carlier, P. G., Blamire, A., Hilsden, H., Lochmueller, H., Grieben, U., Spuler, S., Rocha, C., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, E., Harms, M., Pestronk, A., Krause, S., Schreiber-Katz, O., Walter, M. C., Paradas, C., Hogrel, J., Stojkovic, T., Takeda, S., Mori-Yoshimura, M., Bravver, E., Sparks, S., Diaz-Manera, J., Bello, L., Semplicini, C., Pegoraro, E., Mendell, J. R., Bushby, K., Straub, V. 2018; 89 (11): 1224-+
  • Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids. Neuromuscular disorders : NMD McDonald, C. M., Gordish-Dressman, H., Henricson, E. K., Duong, T., Joyce, N. C., Jhawar, S., Leinonen, M., Hsu, F., Connolly, A. M., Cnaan, A., Abresch, R. T., CINRG investigators for PubMed, Dubrovsky, A., Kornberg, A., Ryan, M., Webster, R., Biggar, W. D., McAdam, L. C., Mah, J. K., Kolski, H., Vishwanathan, V., Chidambaranathan, S., Nevo, Y., Gorni, K., Carlo, J., Tulinius, M., Lotze, T., Bertorini, T. E., Day, J. W., Karachunski, P., Clemens, P. R., Abdel-Hamid, H., Teasley, J., Kuntz, N., Driscoll, S., Bodensteiner, J. B., Connolly, A. M., Pestronk, A., Abresch, R. T., Henricson, E. K., Joyce, N. C., McDonald, C. M., Cnaan, A., Morgenroth, L. P., Leshner, R., Tesi-Rocha, C., Thangarajh, M., Duong, T. 2018; 28 (11): 897–909

    Abstract

    We describe changes in pulmonary function measures across time in Duchenne muscular dystrophy patients treated with glucocorticoids (GCs) > 1 year compared to GC naive patients in the Cooperative International Research Group Duchenne Natural History Study, a multicenter prospective cohort study. 397 participants underwent 2799 pulmonary function assessments over a period up to 10 years. Fifty-three GC naive participants (< 1 month exposure) were compared to 322 subjects with > 1 year cumulative GC treatment. Forced vital capacity (FVC), peak expiratory flow rate (PEFr), maximal inspiratory and expiratory pressures were performed and calculated as a percent predicted (%p). GC treatment slowed the rate of pulmonary decline as measured by FVC%p, in patients aged 7-9.9 years. GC treatment slowed 12 and 24-month progression of percent predicted spirometry to a greater degree in those with baseline FVC%p from < 80-34%. GC treatment resulted in higher peak absolute FVC and PEFr values with later onset of decline. Progression to an absolute FVC < 1 liter was delayed by GC treatment. Patients who reached a FVC below 1L were 4.1 times more likely to die (p = 0.017). Long-term glucocorticoid treatment slows pulmonary disease progression in Duchenne dystrophy throughout the lifespan.

    View details for DOI 10.1016/j.nmd.2018.07.004

    View details for PubMedID 30336970

  • Experience using Spinraza to treat adults with spinal muscular atrophy Day, J., Wolford, C., Macpherson, C., Hagerman, K., Paulose, S., Zeineh, M., Martens, W., McDermott, M., Darras, B., De Vivo, D., Cunningham, Z., Finkel, R., Sampson, J., Duong, T. PERGAMON-ELSEVIER SCIENCE LTD. 2018: S81
  • Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study GENETICS IN MEDICINE Hahn, S., Kronn, D., Leslie, N. D., Pena, L. M., Tanpaiboon, P., Gambello, M. J., Gibson, J. B., Hillman, R., Stockton, D. W., Day, J. W., Wang, R. Y., Haack, K., Shafi, R., Sparks, S., Zhao, Y., Wilson, C., Kishnani, P. S., Pompe ADV Study Consortium 2018; 20 (10): 1284–94

    Abstract

    PurposePompe disease results from lysosomal acid α-glucosidase (GAA) deficiency and its associated glycogen accumulation and muscle damage. Alglucosidase alfa (recombinant human GAA (rhGAA)) received approval in 2006 as a treatment for Pompe disease at the 160 L production scale. In 2010, larger-scale rhGAA was approved for patients up to 8 years old without cardiomyopathy. NCT01526785 evaluated 4,000 L rhGAA efficacy/safety in US infantile- or late-onset Pompe disease (IOPD, LOPD) patients up to 1 year old transitioned from 160 L rhGAA.MethodsA total of 113 patients (87 with IOPD; 26 with LOPD) received 4,000 L rhGAA for 52 weeks dosed the same as previous 160 L rhGAA. Efficacy was calculated as the percentage of patients stable/improved at week 52 (without death, new requirement for invasive ventilation, left ventricular mass z-score increase >1 if baseline was >2, upright forced vital capacity decrease ≥15% predicted, or Gross Motor Function Measure-88 decrease ≥8 percentage points). Safety evaluation included an extension ≤20 months.ResultsWeek 52 data was available for 104 patients, 100 of whom entered the extension. At week 52, 87/104 (83.7%) were stable/improved. Overall survival was 98.1% overall, 97.6% IOPD, 100% LOPD; 92.4% remained invasive ventilator-free (93.4% IOPD, 88.7% LOPD). Thirty-five patients had infusion-associated reactions. Eight IOPD patients died of drug-unrelated causes.ConclusionsMost Pompe disease patients were clinically stable/improved after transitioning to 4,000 L rhGAA. Safety profiles of both rhGAA forms were consistent.Genetics in Medicine advance online publication, 22 March 2018; doi:10.1038/gim.2018.2.

    View details for PubMedID 29565424

  • Rasch analysis of the individualised neuromuscular Quality of Life Questionnaire administered to patients with dysferlinopathy James, M., Mayhew, A., Jacobs, M., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., Salort-Campana, E., Pestronk, A., Walter, M., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz Manera, J., Pegoraro, E., Mendell, J., Bushby, K., Straub, V. PERGAMON-ELSEVIER SCIENCE LTD. 2018: S35
  • Clinical outcome study in dysferlinopathy: random forest approach to assess the relationship between baseline muscle MRI and longitudinal functional outcome measures Diaz-Manera, J., Fernandez-Torron, R., James, M., Mayhew, A., Jacobs, M., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., Salort-Campana, E., Pestronk, A., Walter, M., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Pegoraro, E., Mendell, J., Bushby, K., Straub, V. PERGAMON-ELSEVIER SCIENCE LTD. 2018: S34–S35
  • Clinical outcome study in dysferlinopathy: medical comorbidities and polytherapy in a large population of dysferlinopathy patients Fernandez-Torron, R., Diaz-Manera, J., James, M., Mayhew, A., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., Salort-Campana, E., Pestronk, A., Walter, M., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Pegoraro, E., Mendell, J., Bushby, K., Straub, V., Jain Consortium PERGAMON-ELSEVIER SCIENCE LTD. 2018: S35
  • FIREFISH Part 1: early clinical results following a significant increase of SMN protein in SMA type 1 babies treated with RG7916 Baranello, G., Servais, L., Day, J., Deconinck, N., Mercuri, E., Klein, A., Darras, B., Masson, R., Kletzl, H., Cleary, Y., Armstrong, G., Seabrook, T., Czech, C., Gerber, M., Gelblin, K., Gorni, K., Khwaja, O. PERGAMON-ELSEVIER SCIENCE LTD. 2018: S109
  • A study of RG7916 in infants with pre-symptomatic spinal muscular atrophy Bertini, E., Day, J., Al Muhaizea, M., Xiong, H., Servais, L., Prufer, A., Buchbjerg, J., Armstrong, G., Gorni, K., Khwaja, O. PERGAMON-ELSEVIER SCIENCE LTD. 2018: S108–S109
  • AVXS-101 gene replacement therapy for spinal muscular atrophy type 1: pivotal study (STRIVE) update Day, J., Feltner, D., Ogrinc, F., Macek, T., Wells, C., Muehring, L., Italien, J. L., Sproule, D., Nagendran, S., Kaspar, B., Mendell, J. PERGAMON-ELSEVIER SCIENCE LTD. 2018: S82–S83
  • SMN protein levels before and after treatment with RG7916 in type 1, 2 and 3 SMA patients compared to healthy subjects Kletzl, H., Czech, C., Cleary, Y., Sturm, S., Gunther, A., Baranello, G., Mercuri, E., Servais, L., Day, J., Deconinck, N., Klein, A., Darras, B., Masson, R., Kirschner, J., Goemans, N., Pera, M., Chiriboga, C., Fischer, D., Gorni, K., Khwaja, O. PERGAMON-ELSEVIER SCIENCE LTD. 2018: S109–S110
  • Myelin Abnormality in Charcot-Marie-Tooth Type 4J Recapitulates Features of Acquired Demyelination Hu, B., McCollum, M., Ravi, V., Arpag, S., Moiseev, D., Castoro, R., Mobley, B., Burnette, B., Siskind, C., Day, J., Yawn, R., Feely, S., Li, Y., Yan, Q., Shy, M., Li, J. WILEY. 2018: S113
  • Telomere shortening is a hallmark of genetic cardiomyopathies PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA Chang, A. Y., Chang, A. H., Kirillova, A., Sasagawa, K., Su, W., Weber, G., Lin, J., Termglinchan, V., Karakikes, I., Seeger, T., Dainis, A. M., Hinson, J. T., Seidman, J., Seidman, C. E., Day, J. W., Ashley, E., Wu, J. C., Blau, H. M. 2018; 115 (37): 9276–81
  • RASCH ANALYSIS OF THE INDIVIDUALIZED NEUROMUSCULAR QUALITY OF LIFE QUESTIONNAIRE ADMINISTERED TO PATIENTS WITH DYSFERLINOPATHY Mayhew, A. G., James, M. K., Jacobs, M., Feng, J., Spuler, S., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, E., Pestronk, A., Walter, M. C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Manera, J., Pegoraro, E., Mendell, J. R., Bushby, K., Straub, V., Jain COS Consortium WILEY. 2018: S20
  • A PHASE 2 CLINICAL TRIAL OF RELDESEMTIV, A FAST SKELETAL MUSCLE TROPONIN ACTIVATOR, FOR THE POTENTIAL TREATMENT OF SPINAL MUSCULAR ATROPHY (SMA) Rudnicki, S. A., Andrews, J. A., Malik, F. I., Meng, L., Wei, J., Wolff, A. A., Day, J. W. WILEY. 2018: S14