نتائج البحث - "De Vivo, Darryl C."

1

دورية أكاديمية

Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study

المؤلفون: De Giorgis, Valentina, Bhatia, Kailash P, Boespflug-Tanguy, Odile, Gras, Domitille, Marina, Adela Della, Desurkar, Archana, Toledo, Manuel, Miller, Ian, Rotstein, Michael, Schneider, Susanne A, Tarquinio, Daniel C, Weber, Yvonne, Brandabur, Melanie, Mayhew, Jill, Koutsoukos, Tony, De Vivo, Darryl C

المصدر: Movement Disorders (2024) (In press).

مصطلحات موضوعية: UX007, glucose transporter type 1 deficiency syndrome, paroxysmal movement disorder, phase 3, triheptanoin

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10192415/1/Triheptanoin%20Did%20Not%20Show%20Benefit%20versus%20Placebo%20for%20the%20Treatment%20of%20Paroxysmal.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10192415Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10192415/1/Triheptanoin%20Did%20Not%20Show%20Benefit%20versus%20Placebo%20for%20the%20Treatment%20of%20Paroxysmal.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10192415Test/

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2

دورية أكاديمية

Disease trajectories in the Revised Hammersmith Scale in a cohort of untreated patients with spinal muscular atrophy types 2 and 3.

مصطلحات موضوعية: R Medicine (General)

وصف الملف: text

العلاقة: https://oars.uos.ac.uk/3651/1/Disease%20Trajectories%20in%20the%20Revised%20Hammersmith%20Scale.pdfTest; Wolfe, Amy, Stimpson, Georgia, Ramsey, Danielle, Coratti, Giorgia, Dunaway Young, Sally, Mayhew, Anna, Pane, Marika, Rohwer, Annemarie, Muni Lofra, Robert, Duong, Tina, O'Reilly, Emer, Milev, Evelin, Civitello, Matthew, Sansone, Valeria A, D'Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena, Main, Marion, Montes, Jacqueline, Glanzman, Allan M, Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Marini-Bettolo, Chiara, Day, John W, Darras, Basil T, De Vivo, Darryl C, Baranello, Giovanni, Scoto, Mariacristina, Finkel, Richard S, Mercuri, Eugenio and Muntoni, Francesco (2024) Disease trajectories in the Revised Hammersmith Scale in a cohort of untreated patients with spinal muscular atrophy types 2 and 3. Journal of neuromuscular diseases. ISSN 2214-3602

الإتاحة: https://doi.org/10.3233/JND-230211Test
http://oars.uos.ac.uk/3651Test/
https://oars.uos.ac.uk/3651/1/Disease%20Trajectories%20in%20the%20Revised%20Hammersmith%20Scale.pdfTest
https://content.iospress.com/articles/journal-of-neuromuscular-diseases/jnd230211Test

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3

دورية أكاديمية

Real-world outcomes in patients with spinal muscular atrophy treated with onasemnogene abeparvovec monotherapy: findings from the RESTORE Registry

المؤلفون: Servais, Laurent, Day, John W., De Vivo, Darryl C., Kirschner, Janbernd, Mercuri, Eugenio, Muntoni, Francesco, Proud, Crystal M., Shieh, Perry B., Tizzano, Eduardo F., Quijano‐Roy, Susana, Desguerre, Isabelle, Saito, Kayoko, Faulkner, Eric, Benguerba, Kamal, Raju, Dheeraj, LaMarca, Nicole, Sun, Rui, Anderson, Frederick A., Finkel, Richard S.

المصدر: Journal of neuromuscular diseases. - 11, 2 (2024) , 425-442, ISSN: 2214-3602

وصف الملف: pdf

العلاقة: https://freidok.uni-freiburgTest.de/data/244066

الإتاحة: https://doi.org/10.3233/jnd-230122Test
https://freidok.uni-freiburgTest.de/data/244066
https://nbn-resolving.org/urn:nbnTest:de:bsz:25-freidok-2440667
https://freidok.uni-freiburgTest.de/dnb/download/244066

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4

دورية أكاديمية

Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study

المساهمون: Ministero della Salute, Roche Italia, Novartis, Biogen

المصدر: European Journal of Neurology ; ISSN 1351-5101 1468-1331

الإتاحة: https://doi.org/10.1111/ene.16309Test

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5

دورية أكاديمية

2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

المساهمون: Stimpson, Georgia, Ramsey, Danielle, Wolfe, Amy, Mayhew, Anna, Scoto, Mariacristina, Baranello, Giovanni, Muni Lofra, Robert, Main, Marion, Milev, Evelin, Coratti, Giorgia, Pane, Marika, Sansone, Valeria, D'Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena Stacy, Montes, Jacqueline, Glanzman, Allan M, Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Duong, Tina, Dunaway Young, Sally, Civitello, Matthew, Marini-Bettolo, Chiara, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard S, Mercuri, Eugenio, Muntoni, Francesco

مصطلحات موضوعية: motor function, natural history, spinal muscular atrophy

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36902710; info:eu-repo/semantics/altIdentifier/wos/WOS:000948301500001; volume:12; issue:5; firstpage:1; lastpage:19; numberofpages:19; journal:JOURNAL OF CLINICAL MEDICINE; https://hdl.handle.net/11570/3270593Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85150222769; https://www.mdpi.com/2077-0383/12/5/1920Test

الإتاحة: https://doi.org/10.3390/jcm12051920Test
https://hdl.handle.net/11570/3270593Test
https://www.mdpi.com/2077-0383/12/5/1920Test

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6

دورية أكاديمية

Combination disease‐modifying treatment in spinal muscular atrophy: a proposed classification

المؤلفون: Proud, Crystal M., Mercuri, Eugenio, Finkel, Richard S., Kirschner, Janbernd, De Vivo, Darryl C., Muntoni, Francesco, Saito, Kayoko, Tizzano, Eduardo F., Desguerre, Isabelle, Quijano‐Roy, Susana, Benguerba, Kamal, Raju, Dheeraj, Faulkner, Eric, Servais, Laurent

المصدر: Annals of Clinical and Translational Neurology. - 10, 11 (2023) , 2155-2160, ISSN: 2328-9503

وصف الملف: pdf

العلاقة: https://freidok.uni-freiburgTest.de/data/239565

الإتاحة: https://doi.org/10.1002/acn3.51889Test
https://freidok.uni-freiburgTest.de/data/239565
https://nbn-resolving.org/urn:nbnTest:de:bsz:25-freidok-2395653
https://freidok.uni-freiburgTest.de/dnb/download/239565

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7

دورية أكاديمية

Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome

المؤلفون: Mochel, Fanny, Gras, Domitille, Luton, Marie-Pierre, Nizou, Manon, Giovannini, Donatella, Delattre, Caroline, Aubart, Mélodie, Barth, Magalie, de Saint-Martin, Anne, Doummar, Diane, Essid, Nouha, Garros, Alexa, Le Camus, Caroline Hachon, Hoebeke, Celia, The Tich, Sylvie Nguyen, Perivier, Maximilien, Rivera, Serge, Rolland, Anne, Roubertie, Agathe, Sarret, Catherine, Sevin, Caroline, Ville, Dorothee, Sitbon, Marc, Costa, Jean-Marc, Pons, Roser, Garcia-Cazorla, Angels, Vuillaumier, Sandrine, Petit, Vincent, Boespflug-Tanguy, Odile, de Vivo, Darryl, C, An, Isabelle, Bailly, Laurent, Bendetowicz, David, Charles, Perrine, Delorme, Cécile, Demeret, Sophie, Giron, Camille, Heide, Solveig, Heinzmann, Anna, Lalaude, Mathilde, Méneret, Aurélie, Mezouar, Nicolas, Monin, Marie-Lorraine, Mouthon, Linda, Roze, Emmanuel, Tarrano, Clément, Villain, Nicolas, Yazbeck, Elise, Auvin, Stéphane, Da Costa, Lydie, Dozières, Blandine, Portes, Vincent Des, Gokce-Samar, Zeynep, Panagiotakaki, Eleni, Souci, Sabrine, Toulouse, Joseph, Bellesme, Céline, Maurey, Hélène, Salah, Lucie, de Villemeur, Thierry Billette, Garzon, Pauline, Héron, Bénédicte, Isapof, Arnaud, Nougues, Marie-Christine, Ravelli, Claudia, Renaldo, Florence, Rodriguez, Diana, Valence, Stéphanie, Dangles, Marie-Thérèse, de Lonlay, Pascale, Desguerre, Isabelle, Durrleman, Chloé, Hully, Marie, Albertini, Francesca, Cano, Aline, Chabrol, Brigitte, Chavany, Julie, Kaphan, Elsa, Lagarde, Stanislas, Villeneuve, Nathalie, Avez-Couturier, Justine, Chaton, Laurence, Cuvellier, Jean-Christophe, Dehak, Rabha, Ballay, Florence Flamein, Floret, Valentine, Remérand, Ganaëlle, Abi Warde, Marie-Thérèse, Anheim, Mathieu, de Feraudy, Yvan, Gebus, Odile, Perriard, Caroline, Spitz, Marie-Aude, Khalil, Mirna, Tosi, Cécilia Marelli, Alvarez, Blanca Mercedes, Meyer, Pierre, Valle, Sarai Urtiaga, Canon, Mathilde, Ioos, Christine, Espil, Caroline, Husson, Marie, Goizet, Cyril, Michaud, Vincent, Pedespan, Jean-Michel, Damaj, Léna, Hadjadj, Sarah, Lavillaureix, Alinoë, Lepage, Jean-Marie, Ugolin, Mélissa, Froget, Rachel, Laroche, Cécile, Cancès, Claude, Salel, Yu Jin, Viguier, Agnès, Mazzola, Laure, Perrin, Laurine, Besson, Gérard, Dubois, Fanny, Lametery, Elodie, Jacquet, Coralie, de Pontual, Loïc, Castelnau, Pierre, Lagrue, Emmanuelle, Gibaud, Marc, Chouchane, Mondher, Darmency, Véronique, Fatus, Clémence Fauconnier, Bilbault, Claire, Cullier, Anne Charlotte, Mekary, Jacinthe, Touhami, Jawida, Baer, Marie-Elodie, Litou, Nadine, Samaan, Simon, Béesau, Christophe, Bitaudeau, Floriane, Cousin, Christelle, Desport, Elodie, Djouadi, Lynda, Hamadi, Yasmine, Lebreton, Emeline, Moriceau, Sandra

المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP

المصدر: ISSN: 0028-3878.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37076312; hal-04347222; https://hal.science/hal-04347222Test; https://hal.science/hal-04347222/documentTest; https://hal.science/hal-04347222/file/WNL-2023-000173.pdfTest; PUBMED: 37076312; PUBMEDCENTRAL: PMC10256121

الإتاحة: https://doi.org/10.1212/WNL.0000000000207296Test
https://hal.science/hal-04347222Test
https://hal.science/hal-04347222/documentTest
https://hal.science/hal-04347222/file/WNL-2023-000173.pdfTest

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8

دورية أكاديمية

Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTUREstudy

المساهمون: Biogen

المصدر: Muscle & Nerve ; volume 68, issue 2, page 157-170 ; ISSN 0148-639X 1097-4598

الإتاحة: https://doi.org/10.1002/mus.27853Test

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9

دورية أكاديمية

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome

المؤلفون: Tayebi, Naeimeh, Leon‐Ricardo, Brian, McCall, Kevin, Mehinovic, Elvisa, Engelstad, Kristin, Huynh, Vincent, Turner, Tychele N., Weisenberg, Judy, Thio, Liu L., Hruz, Paul, Williams, Robin S. B., De Vivo, Darryl C., Petit, Vincent, Haller, Gabe, Gurnett, Christina A.

المساهمون: Glut1 Deficiency Foundation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, National Center for Advancing Translational Sciences

المصدر: Annals of Clinical and Translational Neurology ; volume 10, issue 5, page 787-801 ; ISSN 2328-9503 2328-9503

الإتاحة: https://doi.org/10.1002/acn3.51767Test

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10

دورية أكاديمية

Systemic Reduction of Glut1 Normalizes Retinal Dysfunction, Inflammation, and Oxidative Stress in the Retina of Spontaneous Type 2 Diabetic Mice

المؤلفون: Aiello, Jacob J., Bogart, Maislin C., Chan, Wai-Ting, Holoman, Nicholas C., Trobenter, Timothy D., Relf, Chloe E., Kleinman, Dana M., De Vivo, Darryl C., Samuels, Ivy S.

المصدر: The American Journal of Pathology ; volume 193, issue 7, page 927-938 ; ISSN 0002-9440

مصطلحات موضوعية: Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1016/j.ajpath.2023.04.003Test
https://api.elsevier.com/content/article/PII:S0002944023001293?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002944023001293?httpAccept=text/plainTest

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