Search Results - "Ryan, Monique M."

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study by De Vivo, Darryl C., Bertini, Enrico, Swoboda, Kathryn J., Hwu, Wuh-Liang, Crawford, Thomas O., Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Parsons, Julie A., Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben-Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh-Jyh, Shu, Francy, Staropoli, John F., Kerr, Douglas, Sandrock, Alfred W., Stebbins, Christopher, Petrillo, Marco, Braley, Gabriel, Johnson, Kristina, Foster, Richard, Gheuens, Sarah, Bhan, Ishir, Reyna, Sandra P., Fradette, Stephanie, Farwell, Wildon

“…•NURTURE is an ongoing study of nusinersen started in a presymptomatic stage of SMA.•All infants were ≥25 months old, and alive without permanent…”
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Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study by Crawford, Thomas O., Swoboda, Kathryn J., De Vivo, Darryl C., Bertini, Enrico, Hwu, Wuh‐Liang, Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Nazario, Aledie Navas, Parsons, Julie A., Pechmann, Astrid, Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben‐Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh‐Jyh, Shu, Francy, Zhu, Cong, Raynaud, Stephanie, Lago, Tiffany R., Paradis, Angela D., Foster, Richard, Chin, Russell, Berger, Zdenek

“…Introduction/Aims NURTURE (NCT02386553) is an open‐label study of nusinersen in children (two SMN2 copies, n = 15; three SMN2 copies, n = 10) who initiated…”
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Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia by Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B, McLean, Catriona A, Kornberg, Andrew J, Joseph, Jörg, Lockhart, Paul J, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Koehler, Carla M, Jen, Joanna C

“…Disturbed mitochondrial fusion and fission have been linked to various neurodegenerative disorders. In siblings from two unrelated families who died soon after…”
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Neurofilament as a potential biomarker for spinal muscular atrophy by Darras, Basil T., Crawford, Thomas O., Finkel, Richard S., Mercuri, Eugenio, De Vivo, Darryl C., Oskoui, Maryam, Tizzano, Eduardo F., Ryan, Monique M., Muntoni, Francesco, Zhao, Guolin, Staropoli, John, McCampbell, Alexander, Petrillo, Marco, Stebbins, Christopher, Fradette, Stephanie, Farwell, Wildon, Sumner, Charlotte J.

“…Objective To evaluate plasma phosphorylated neurofilament heavy chain (pNF‐H) as a biomarker in spinal muscular atrophy (SMA). Methods Levels of pNF‐H were…”
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Fracture risk and impact in boys with Duchenne muscular dystrophy: A retrospective cohort study by Liaw, Joshua, Billich, Natassja, Carroll, Kate, Adams, Justine, Ryan, Monique M., Yiu, Eppie M., Zacharin, Margaret, Simm, Peter, Davidson, Zoe E.

“…Introduction/Aims Boys with Duchenne muscular dystrophy (DMD) are at increased risk of fracture. This study investigated the incidence of fractures, factors…”
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Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy by Kariyawasam, Didu S T, D'Silva, Arlene, Lin, Cindy, Ryan, Monique M, Farrar, Michelle A

“…Recent unprecedented advances in treatment for spinal muscular atrophy (SMA) enabled patients to access the first approved disease modifying therapy for the…”
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The Relationship between Obesity and Clinical Outcomes in Young People with Duchenne Muscular Dystrophy by Billich, Natassja, Adams, Justine, Carroll, Kate, Truby, Helen, Evans, Maureen, Ryan, Monique M, Davidson, Zoe E

“…Background: Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder. Young people with DMD have high rates of obesity. There is emerging…”
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Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study by Smith, Edward C., Conklin, Laurie S., Hoffman, Eric P., Clemens, Paula R., Mah, Jean K., Finkel, Richard S., Guglieri, Michela, Tulinius, Mar, Nevo, Yoram, Ryan, Monique M., Webster, Richard, Castro, Diana, Kuntz, Nancy L., Kerchner, Laurie, Morgenroth, Lauren P., Arrieta, Adrienne, Shimony, Maya, Jaros, Mark, Shale, Phil, Gordish-Dressman, Heather, Hagerty, Laura, Dang, Utkarsh J., Damsker, Jesse M., Schwartz, Benjamin D., Mengle-Gaw, Laurel J., McDonald, Craig M.

“…The differential mechanism of action of vamorolone compared to traditional corticosteroid anti-inflammatory drugs is attributed to the loss of gene…”
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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration by Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P, Hong, Ji Eun, Leong, Derek W, Senderek, Jan, Salman, Michael S, Chitayat, David, Seeman, Pavel, von Moers, Arpad, Graul-Neumann, Luitgard, Kornberg, Andrew J, Castro-Gago, Manuel, Sobrido, María-Jesús, Sanefuji, Masafumi, Shieh, Perry B, Salamon, Noriko, Kim, Ronald C, Vinters, Harry V, Chen, Zugen, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Jen, Joanna C

“…Jaonna Jen and colleagues identify mutations in EXOSC3 , encoding a core RNA exosome component, causing pontocerebellar hypoplasia type 1 (PCH1), a recessive…”
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A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice by Woodcock, Ian R, Tachas, George, Desem, Nuket, Houweling, Peter J, Kean, Michael, Emmanuel, Jaiman, Kennedy, Rachel, Carroll, Kate, de Valle, Katy, Adams, Justine, Lamandé, Shireen R, Coles, Chantal, Tiong, Chrystal, Burton, Matthew, Villano, Daniella, Button, Peter, Hogrel, Jean-Yves, Catling-Seyffer, Sarah, Ryan, Monique M, Delatycki, Martin B, Yiu, Eppie M

“…ATL1102 is a 2'MOE gapmer antisense oligonucleotide to the CD49d alpha subunit of VLA-4, inhibiting expression of CD49d on lymphocytes, reducing survival,…”
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Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study by Kennedy, Rachel A, Carroll, Kate, Paterson, Kade L, Ryan, Monique M, Burns, Joshua, Rose, Kristy, McGinley, Jennifer L

“…Disability related to the progressive and degenerative neuropathies known collectively as Charcot-Marie-Tooth disease (CMT) affects gait and function,…”
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Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A by Yiu, Eppie M, Brockley, Cain R, Lee, Katherine J, Carroll, Kate, de Valle, Katy, Kennedy, Rachel, Rao, Padma, Delatycki, Martin B, Ryan, Monique M

“…OBJECTIVE:To investigate differences in nerve cross-sectional area (CSA) as measured by peripheral nerve ultrasound in children with Charcot-Marie-Tooth…”
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Natural history of pulmonary function in collagen VI-related myopathies by FOLEY, A. Reghan, QUIJANO-ROY, Susana, NORTH, Kathryn, RYAN, Monique M, RICHARD, Pascale, ALLAMAND, Valérie, HICKS, Debbie, LAMANDE, Shireen, YING HU, GUALANDI, Francesca, SUNGYOUNG AUH, MUNTONI, Francesco, COLLINS, James, BÖNNEMANN, Carsten G, STRAUB, Volker, MCCALLUM, Michelle, DECONINCK, Nicolas, MERCURI, Eugenio, PANE, Marika, D'AMICO, Adele, BERTINI, Enrico

“…The spectrum of clinical phenotypes associated with a deficiency or dysfunction of collagen VI in the extracellular matrix of muscle are collectively termed…”
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Neuronal ceroid lipofuscinosis type 2: an Australian case series by Johnson, Alexandra M, Mandelstam, Simone, Andrews, Ian, Boysen, Katja, Yaplito‐Lee, Joy, Fietz, Michael, Nagarajan, Lakshmi, Rodriguez‐Casero, Victoria, Ryan, Monique M, Smith, Nicholas, Scheffer, Ingrid E, Ellaway, Carolyn

“…Aim Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder presenting in children aged 2–4 years with…”
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Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy by D'Silva, Arlene M., Holland, Sandra, Kariyawasam, Didu, Herbert, Karen, Barclay, Peter, Cairns, Anita, MacLennan, Suzanna C., Ryan, Monique M., Sampaio, Hugo, Smith, Nicholas, Woodcock, Ian R., Yiu, Eppie M., Alexander, Ian E., Farrar, Michelle A.

“…Objective To provide a greater understanding of the tolerability, safety and clinical outcomes of onasemnogene abeparvovec in real‐world practice, in a broad…”
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Describing nutrition in spinal muscular atrophy: A systematic review by Moore, Georgia E, Lindenmayer, Amara W, McConchie, Grace A, Ryan, Monique M, Davidson, Zoe E

“…Highlights • Thirty-nine studies relating to nutrition in spinal muscular atrophy (SMA) were retrieved. • Nutritional management practices vary…”
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A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy by Wong, Siaw H, McClaren, Belinda J, Archibald, Alison Dalton, Weeks, Alice, Langmaid, Tess, Ryan, Monique M, Kornberg, Andrew, Metcalfe, Sylvia A

“…The delayed diagnosis of Duchenne muscular dystrophy (DMD) may be an ongoing problem internationally. We aimed to ascertain age at diagnosis and explore…”
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MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability by Ylikallio, Emil, Woldegebriel, Rosa, Tumiati, Manuela, Isohanni, Pirjo, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Sawyer, Sarah L, Bell, Katrina M, Oshlack, Alicia, Lockhart, Paul J, Shcherbii, Mariia, Estrada-Cuzcano, Alejandro, Atkinson, Derek, Hartley, Taila, Tetreault, Martine, Cuppen, Inge, van der Pol, W Ludo, Candayan, Ayse, Battaloglu, Esra, Parman, Yesim, van Gassen, Koen L I, van den Boogaard, Marie-José H, Boycott, Kym M, Kauppi, Liisa, Jordanova, Albena, Lönnqvist, Tuula, Tyynismaa, Henna

“…Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal…”
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Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial by Burns, Joshua, PhD, Ouvrier, Robert A, MD, Yiu, Eppie M, MBBS, Joseph, Pathma D, MPharm, Kornberg, Andrew J, MBBS, Fahey, Michael C, PhD, Ryan, Monique M, MMed

“…Summary Background Charcot–Marie–Tooth disease type 1A (CMT1A) is the most common inherited nerve disorder. CMT1A is characterised by peripheral nerve…”
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Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function by Van Bergen, Nicole J, Hock, Daniella H, Spencer, Lucy, Massey, Sean, Stait, Tegan, Stark, Zornitza, Lunke, Sebastian, Roesley, Ain, Peters, Heidi, Lee, Joy Yaplito, Le Fevre, Anna, Heath, Oliver, Mignone, Cristina, Yang, Joseph Yuan-Mou, Ryan, Monique M, D'Arcy, Colleen, Nash, Margot, Smith, Sile, Caruana, Nikeisha J, Thorburn, David R, Stroud, David A, White, Susan M, Christodoulou, John, Brown, Natasha J

“…Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 ( ; previously called ) is a mitochondrial inner membrane/matrix-residing protein and is reported to…”
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