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Bone and Spinal Muscular Atrophy
Vai, Silvia, Bianchi, Maria Luisa, Moroni, Isabella, Mastella, Chiara, Broggi, Francesca, Morandi, Lucia, Arnoldi, Maria Teresa, Bussolino, Chiara, Baranello, Giovanni
Published in Bone (New York, N.Y.) (01.10.2015)
Published in Bone (New York, N.Y.) (01.10.2015)
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Observational study of spinal muscular atrophy type I and implications for clinical trials
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, O'Hagen, Jessica, Quigley, Janet, Riley, Susan, Benton, Maryjane, Ryan, Patricia A, Montgomery, Megan, Marra, Jonathan, Gooch, Clifton, De Vivo, Darryl C
Published in Neurology (26.08.2014)
Published in Neurology (26.08.2014)
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Safety of risdiplam in spinal muscular atrophy patients after short‐term treatment with nusinersen
Yan, Yue, Feng, Yijie, Jiang, Liya, Jin, Jianing, Mao, Shanshan
Published in Muscle & nerve (01.11.2024)
Published in Muscle & nerve (01.11.2024)
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Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review
Landfeldt, Erik, Abner, Sophia, Pechmann, Astrid, Sejersen, Thomas, McMillan, Hugh J., Lochmüller, Hanns, Kirschner, Janbernd
Published in PharmacoEconomics (01.03.2023)
Published in PharmacoEconomics (01.03.2023)
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Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
Crawford, Thomas O., Paushkin, Sergey V., Kobayashi, Dione T., Forrest, Suzanne J., Joyce, Cynthia L., Finkel, Richard S., Kaufmann, Petra, Swoboda, Kathryn J., Tiziano, Danilo, Lomastro, Rosa, Li, Rebecca H., Trachtenberg, Felicia L., Plasterer, Thomas, Chen, Karen S.
Published in PloS one (27.04.2012)
Published in PloS one (27.04.2012)
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Carrier frequency of SMN1‐related spinal muscular atrophy in north Indian population: The need for population based screening program
Nilay, Mayank, Moirangthem, Amita, Saxena, Deepti, Mandal, Kausik, Phadke, Shubha R.
Published in American journal of medical genetics. Part A (01.01.2021)
Published in American journal of medical genetics. Part A (01.01.2021)
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Spectrum of sleep‐disordered breathing and quality of sleep in adolescent and adult patients with spinal muscular atrophy
Crescimanno, Grazia, Lupica, Antonino, Tommasello, Vito, Di Stefano, Vincenzo, Brighina, Filippo, Marrone, Oreste
Published in Journal of sleep research (01.12.2024)
Published in Journal of sleep research (01.12.2024)
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Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study
Chabanon, Aurélie, Seferian, Andreea Mihaela, Daron, Aurore, Péréon, Yann, Cances, Claude, Vuillerot, Carole, De Waele, Liesbeth, Cuisset, Jean-Marie, Laugel, Vincent, Schara, Ulrike, Gidaro, Teresa, Gilabert, Stéphanie, Hogrel, Jean-Yves, Baudin, Pierre-Yves, Carlier, Pierre, Fournier, Emmanuel, Lowes, Linda Pax, Hellbach, Nicole, Seabrook, Timothy, Toledano, Elie, Annoussamy, Mélanie, Servais, Laurent
Published in PloS one (26.07.2018)
Published in PloS one (26.07.2018)
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Systemic nature of spinal muscular atrophy revealed by studying insurance claims
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.
Published in PloS one (14.03.2019)
Published in PloS one (14.03.2019)
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Cerebrospinal Fluid and Clinical Profiles in Adult Type 2–3 Spinal Muscular Atrophy Patients Treated with Nusinersen: An 18-Month Single-Centre Experience
Milella, Giammarco, Introna, Alessandro, D’Errico, Eustachio, Fraddosio, Angela, Scaglione, Gaspare, Morea, Antonella, Ucci, Maria, Ruggieri, Maddalena, Mastrapasqua, Mariangela, Megna, Marisa, Puntillo, Filomena, Simone, Isabella Laura
Published in Clinical drug investigation (01.09.2021)
Published in Clinical drug investigation (01.09.2021)
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Age‐related sensory neuropathy in patients with spinal muscular atrophy type 1
Pro, Stefano, Tozzi, Alberto Eugenio, D'Amico, Adele, Catteruccia, Michela, Cherchi, Claudio, De Luca, Massimiliano, Nicita, Francesco, Diodato, Daria, Cutrera, Renato, Bertini, Enrico, Valeriani, Massimiliano
Published in Muscle & nerve (01.11.2021)
Published in Muscle & nerve (01.11.2021)
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Magnetic resonance reveals mitochondrial dysfunction and muscle remodelling in spinal muscular atrophy
Habets, Laura E, Bartels, Bart, Asselman, Fay-Lynn, Hooijmans, Melissa T, van den Berg, Sandra, Nederveen, Aart J, van der Pol, W Ludo, Jeneson, Jeroen A L
Published in Brain (London, England : 1878) (24.05.2022)
Published in Brain (London, England : 1878) (24.05.2022)
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Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1–3 patients treated with nusinersen
Šimić, Goran, Vukić, Vana, Babić, Marija, Banović, Maria, Berečić, Ivana, Španić, Ena, Zubčić, Klara, Golubić, Anja Tea, Barišić Kutija, Marija, Merkler Šorgić, Ana, Vogrinc, Željka, Lehman, Ivan, Hof, Patrick R., Sertić, Jadranka, Barišić, Nina
Published in CNS neuroscience & therapeutics (01.03.2024)
Published in CNS neuroscience & therapeutics (01.03.2024)
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The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophy
Querin, Giorgia, Lenglet, Timothée, Debs, Rabab, Stojkovic, Tanya, Behin, Anthony, Salachas, François, Le Forestier, Nadine, Amador, Maria del Mar, Lacomblez, Lucette, Meininger, Vincent, Bruneteau, Gaelle, Laforêt, Pascal, Blancho, Sophie, Marchand-Pauvert, Véronique, Bede, Peter, Hogrel, Jean-Yves, Pradat, Pierre-François
Published in Clinical neurophysiology (01.11.2018)
Published in Clinical neurophysiology (01.11.2018)
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Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy
Buchignani, Bianca, Coratti, Giorgia, Cutrì, Chiara, Scattoni, Maria Luisa, Pane, Marika, Palermo, Concetta, Leone, Daniela, De Sanctis, Roberto, Stanca, Giulia, Antonaci, Laura, Cutrona, Costanza, Pera, Maria Carmela, Brogna, Claudia, Cristofani, Paola, Fulceri, Francesca, Baranello, Giovanni, Mercuri, Eugenio
Published in Scientific reports (24.07.2025)
Published in Scientific reports (24.07.2025)
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Preserved eye movements in adults with spinal muscular atrophy
Anagnostou, Evangelos, Xirou, Sophia, Kararizou, Evangelia, Stefanis, Leonidas, Papadopoulos, Constantinos, Papadimas, George
Published in Muscle & nerve (01.05.2021)
Published in Muscle & nerve (01.05.2021)
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Functional and structural analysis of SITTER patients with spinal muscular atrophy
Bieniaszewska, Aleksandra, Sobieska, Magdalena, Gajewska, Ewa
Published in Scientific reports (28.03.2025)
Published in Scientific reports (28.03.2025)
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