Neuroscience & Behavior


  Listando 11 trabajos del autor/autora 38
Lista de trabajos en el área Neuroscience & Behavior
Mentions   7   Wikipedia   39   News   3   Policy
Article Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy Finkel, R. S.; Mercuri, E.; Darras, B. T.; Connolly, A. M.; Kuntz, N. L.; Kirschner, J.; Chiriboga, C. A.; Saito, K.; Servais, L.; Tizzano, E.; Topaloglu, H.; Tulinius, M.; Montes, J.; Glanzman, A. M.; Bishop, K.; Zhong, Z. J.; Gheuens, S.; Bennett, C. F.; NEW ENGLAND JOURNAL OF MEDICINE 0028-4793 (2017) DOI / 10.1056/nejmoa1702752 Green published
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Article European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy Kirschner, Janbernd; Butoianu, Nina; Goemans, Nathalie; Haberlova, Jana; Kostera-Pruszczyk, Anna; Mercuri, Eugenio; van der Pol, W. Ludo; Quijano-Roy, Susana; Sejersen, Thomas; Tizzano, Eduardo F.; Ziegler, Andreas; Servais, Laurent; Muntoni, Francesco EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY 1090-3798 (2020) DOI / 10.1016/j.ejpn.2020.07.001 Green published, Bronze
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Article Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases Calucho, Maite; Bernal, Sara; Alias, Laura; March, Francesca; Vencesla, Adoracion; Rodriguez-Alvarez, Francisco J.; Aller, Elena; Fernandez, Raquel M.; Borrego, Salud; Milian, Jose M.; Hernandez-Chico, Concepcion; Cusco, Ivon; Fuentes-Prior, Pablo; Tizzano NEUROMUSCULAR DISORDERS 0960-8966 (2018) DOI / 10.1016/j.nmd.2018.01.003
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Letter Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0" Mendonca, Rodrigo H.; Rocha, Antonio J.; Lozano-Arango, Andres; Diaz, Astry B.; Castiglioni, Claudia; Silva, Andre M. S.; Reed, Umbertina C.; Kulikowski, Leslie; Paramonov, Ida; Cusco, Ivon; Tizzano, Eduardo F.; Zanoteli, Edmar ANNALS OF NEUROLOGY 0364-5134 (2019) DOI / 10.1002/ana.25597
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Article Neurofilament as a potential biomarker for spinal muscular atrophy 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, Chr ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY 2328-9503 (2019) DOI / 10.1002/acn3.779 Gold DOAJ, Green published
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Article Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy Cusco, Ivon; Bernal, Sara; Blasco-Perez, Laura; Calucho, Maite; Alias, Laura; Fuentes-Prior, Pablo; Tizzano, Eduardo F. NEUROLOGY-GENETICS 2376-7839 (2020) DOI / 10.1212/nxg.0000000000000530 Gold DOAJ, Green published
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Article 244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands Dangouloff, Tamara; Burghes, Arthur; Tizzano, Eduardo F.; Servais, Laurent NEUROMUSCULAR DISORDERS 0960-8966 (2020) DOI / 10.1016/j.nmd.2019.11.002 Bronze, Green published
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Article Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia Pinto, Miguel M.; Monges, Soledad; Malfatti, Edoardo; Lubieniecki, Fabiana; Lornage, Xaviere; Alias, Laura; Labasse, Clemence; Madelaine, Angeline; Fardeau, Michel; Laporte, Jocelyn; Tizzano, Eduardo F.; Romero, Norma B. MUSCLE & NERVE 0148-639X (2019) DOI / 10.1002/mus.26305
Mentions   0   Wikipedia   0   News   0   Policy
Article RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design Finkel, Richard S.; Day, John W.; De Vivo, Darryl C.; Kirschner, Janbernd; Mercuri, Eugenio; Muntoni, Francesco; Shieh, Perry B.; Tizzano, Eduardo; Desguerre, Isabelle; Quijano-Roy, Susana; Saito, Kayoko; Droege, Marcus; Dabbous, Omar; Khan, Farid; Renault JOURNAL OF NEUROMUSCULAR DISEASES 2214-3599 (2020) DOI / 10.3233/jnd-190451 Hybrid, Green published
Mentions   0   Wikipedia   0   News   0   Policy
Editorial Material Advanced therapies in rare diseases: the example of spinal muscular atrophy Tizzano, Eduardo F. MEDICINA CLINICA 0025-7753 (2018) DOI / 10.1016/j.medcli.2018.03.001
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Article Severe brain involvement in 5q spinal muscular atrophy type 0 Mendonca, Rodrigo H.; Rocha, Antonio J.; Lozano-Arango, Andres; Diaz, Astry B.; Castiglioni, Claudia; Silva, Andre M. S.; Reed, Umbertina C.; Kulikowski, Leslie; Paramonov, Ida; Cusco, Ivon; Tizzano, Eduardo F.; Zanoteli, Edmar ANNALS OF NEUROLOGY 0364-5134 (2019) DOI / 10.1002/ana.25549

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