Search Results - "Darras, Basil"

Poly(lactic acid) (PLA) and polyhydroxyalkanoates (PHAs), green alternatives to petroleum-based plastics: a review by Naser, Ahmed Z, Deiab, I, Darras, Basil M

“…In spite of the fact that petroleum-based plastics are convenient in terms of fulfilling the performance requirements of many applications, they contribute…”
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Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease by Yeo, Crystal Jing Jing, Darras, Basil T.

“…Spinal muscular atrophy is typically characterized as a motor neuron disease. Untreated patients with the most severe form, spinal muscular atrophy type 1, die…”
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Spinal Muscular Atrophies by Darras, Basil T., MD

“…Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. Proximal…”
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Challenges and opportunities in spinal muscular atrophy therapeutics by Yeo, Crystal J J, Tizzano, Eduardo F, Darras, Basil T

“…Spinal muscular atrophy was the most common inherited cause of infant death until 2016, when three therapies became available: the antisense oligonucleotide…”
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Risdiplam in Type 1 Spinal Muscular Atrophy by Baranello, Giovanni, Darras, Basil T, Day, John W, Deconinck, Nicolas, Klein, Andrea, Masson, Riccardo, Mercuri, Eugenio, Rose, Kristy, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Seabrook, Timothy, Fontoura, Paulo, Servais, Laurent

“…The small molecule risdiplam increased the expression of SMN protein in blood in 21 infants with type 1 spinal muscular atrophy. Post hoc clinical features of…”
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Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls by Darras, Basil T, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Vlodavets, Dmitry, Wang, Yi, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Fontoura, Paulo, Servais, Laurent

“…The pre-mRNA SMN2 splicing modifier risdiplam was administered orally to 41 infants with type 1 spinal muscular atrophy. After 12 months of treatment, 12…”
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Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy by Chiriboga, Claudia A, Swoboda, Kathryn J, Darras, Basil T, Iannaccone, Susan T, Montes, Jacqueline, De Vivo, Darryl C, Norris, Daniel A, Bennett, C Frank, Bishop, Kathie M

“…OBJECTIVE:To examine safety, tolerability, pharmacokinetics, and preliminary clinical efficacy of intrathecal nusinersen (previously ISIS-SMNRx), an antisense…”
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Systemic nature of spinal muscular atrophy revealed by studying insurance claims by Lipnick, Scott L, Agniel, Denis M, Aggarwal, Rahul, Makhortova, Nina R, Finlayson, Samuel G, Brocato, Alexandra, Palmer, Nathan, Darras, Basil T, Kohane, Isaac, Rubin, Lee L

“…We investigated the presence of non-neuromuscular phenotypes in patients affected by Spinal Muscular Atrophy (SMA), a disorder caused by a mutation in the…”
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Spinal muscular atrophy by Mercuri, Eugenio, Sumner, Charlotte J., Muntoni, Francesco, Darras, Basil T., Finkel, Richard S.

“…Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of…”
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Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial by Day, John W, Finkel, Richard S, Chiriboga, Claudia A, Connolly, Anne M, Crawford, Thomas O, Darras, Basil T, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren D M, Shieh, Perry B, Smith, Edward C, Kwon, Jennifer M, Zaidman, Craig M, Schultz, Meredith, Feltner, Douglas E, Tauscher-Wisniewski, Sitra, Ouyang, Haojun, Chand, Deepa H, Sproule, Douglas M, Macek, Thomas A, Mendell, Jerry R

“…Spinal muscular atrophy type 1 is a motor neuron disorder resulting in death or the need for permanent ventilation by age 2 years. We aimed to evaluate the…”
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Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies by Darras, Basil T, Chiriboga, Claudia A, Iannaccone, Susan T, Swoboda, Kathryn J, Montes, Jacqueline, Mignon, Laurence, Xia, Shuting, Bennett, C Frank, Bishop, Kathie M, Shefner, Jeremy M, Green, Allison M, Sun, Peng, Bhan, Ishir, Gheuens, Sarah, Schneider, Eugene, Farwell, Wildon, De Vivo, Darryl C

“…OBJECTIVETo report results of intrathecal nusinersen in children with later-onset spinal muscular atrophy (SMA). METHODSAnalyses included children from a phase…”
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Yeo and Darras: Extraneuronal Phenotypes of Spinal Muscular Atrophy by Yeo, Crystal Jing Jing, Darras, Basil T.

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Observational study of spinal muscular atrophy type I and implications for clinical trials by Finkel, Richard S, McDermott, Michael P, Kaufmann, Petra, Darras, Basil T, Chung, Wendy K, Sproule, Douglas M, Kang, Peter B, Foley, A Reghan, Yang, Michelle L, Martens, William B, Oskoui, Maryam, Glanzman, Allan M, Flickinger, Jean, Montes, Jacqueline, Dunaway, Sally, OʼHagen, Jessica, Quigley, Janet, Riley, Susan, Benton, Maryjane, Ryan, Patricia A, Montgomery, Megan, Marra, Jonathan, Gooch, Clifton, De Vivo, Darryl C

“…OBJECTIVES:Prospective cohort study to characterize the clinical features and course of spinal muscular atrophy type I (SMA-I). METHODS:Patients were enrolled…”
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Revised upper limb module for spinal muscular atrophy: Development of a new module by Mazzone, Elena S., Mayhew, Anna, Montes, Jacqueline, Ramsey, Danielle, Fanelli, Lavinia, Young, Sally Dunaway, Salazar, Rachel, De Sanctis, Roberto, Pasternak, Amy, Glanzman, Allan, Coratti, Giorgia, Civitello, Matthew, Forcina, Nicola, Gee, Richard, Duong, Tina, Pane, Marika, Scoto, Mariacristina, Pera, Maria Carmela, Messina, Sonia, Tennekoon, Gihan, Day, John W., Darras, Basil T., Vivo, Darryl C., Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio

“…ABSTRACT Introduction There is a growing need for a robust clinical measure to assess upper limb motor function in spinal muscular atrophy (SMA), as the…”
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Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool by Ramsey, Danielle, Scoto, Mariacristina, Mayhew, Anna, Main, Marion, Mazzone, Elena S, Montes, Jacqueline, de Sanctis, Roberto, Dunaway Young, Sally, Salazar, Rachel, Glanzman, Allan M, Pasternak, Amy, Quigley, Janet, Mirek, Elizabeth, Duong, Tina, Gee, Richard, Civitello, Matthew, Tennekoon, Gihan, Pane, Marika, Pera, Maria Carmela, Bushby, Kate, Day, John, Darras, Basil T, De Vivo, Darryl, Finkel, Richard, Mercuri, Eugenio, Muntoni, Francesco

“…Recent translational research developments in Spinal Muscular Atrophy (SMA), outcome measure design and demands from regulatory authorities require that…”
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An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials by Darras, Basil T., Farrar, Michelle A., Mercuri, Eugenio, Finkel, Richard S., Foster, Richard, Hughes, Steven G., Bhan, Ishir, Farwell, Wildon, Gheuens, Sarah

“…Background Treatment with nusinersen has demonstrated significant and clinically meaningful benefits in clinical trials in infants and children with spinal…”
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Dystrophinopathies by Brandsema, John F, Darras, Basil T

“…The dystrophinopathies fall along a spectrum of muscular dystrophy phenotypes, with variable involvement of skeletal and cardiac muscle. The diagnosis of…”
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Cyber-Physical Systems as an Enabler of Circular Economy to Achieve Sustainable Development Goals: A Comprehensive Review by Ahmed, Aser Alaa, Nazzal, Mohammad A., Darras, Basil M.

“…Industrialization has brought wealth, prosperity, and abundance to many nations. However, it has had many drawbacks on people’s health and the environment…”
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Precious SMA natural history data: A benchmark to measure future treatment successes by Darras, Basil T, De Vivo, Darryl C

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Non-5q spinal muscular atrophies: the alphanumeric soup thickens by Darras, Basil T

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