Publicaciones
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Coratti G, Bovis F, Pera MC, Civitello M, Rohwer A, Salmin F, Glanzman AM, Montes J, Pasternak A, De Sanctis R, Dunaway Young S, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, Albamonte E, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Exposito-Escudero JM, De Waele L, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Nascimento-Osorio A, Bruno C, Goemans N, Sansone VA, Day J, Baranello G, Muntoni F, Finkel R and Mercuri E.
Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.
EUROPEAN JOURNAL OF NEUROLOGY . 31(12): . Nº de citas: 2
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Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.
Clinical Response of Levodopa in CTNNB1 -Related Dystonia
Journal of Pediatric Neurology . 22(06): 466-469.
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Servais L, Strijbos P, Poleur M, Mirea A, Butoianu N, Sansone VA, Vuillerot C, Schara-Schmidt U, Scoto M, Seferian AM, Previtali SC, Tulinius M, Nascimento-Osorio A, Furlong P, Singh T, Dreghici RD, Goemans N, Mercuri E, Straub V, Ormazabal MG, Braid J, Muntoni F, Tricot A, Annoussamy M and Eggenspieler D.
Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint
SCIENTIFIC REPORTS . 14(1): 29681-29681. Nº de citas: 2
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Di Feo MF, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, Malfatti E, Castiglioni C, Krey I, Gomez Andres D, Brady AF, Iascone M, Cereda A, Pezzani L, Natera-de Benito D, Nascimento-Osorio A, Estévez-Arias B, Kurbatov SA, Attie-Bitach T, Nampoothiri S, Ryan E, Morrow M, Gorokhova S, Chabrol B, Sinisalo J, Tolppanen H, Tolva J, Munell F, Camacho Soriano J, Sanchez Duran MA, Johari M, Tajsharghi H, Hackman P, Udd B and Savarese M.
Inferring disease course from differential exon usage in the wide titinopathy spectrum.
Annals of Clinical and Translational Neurology . 11(10): 2745-2755. Nº de citas: 2
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Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication
CLINICAL CHEMISTRY . 70(12): 1443-1451.
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Llansó L, Segarra-Casas A, Domínguez-González C, Malfatti E, Kapetanovic S, Rodríguez-Santiago B, de la Calle O, Blanco R, Dobrescu A, Nascimento-Osorio A, Paipa A, Hernandez-Lain A, Jou-Munoz C, Mariscal A, González-Mera L, Arteche A, Lleixà C, Caballero-Ávila M, Carbayo Á, Vesperinas A, Querol L, Gallardo E and Olivé M.
Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naive Early-Onset Anti-HMGCR Necrotizing Myopathy
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION . 11(5): .
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Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez-Gonzalez CI, Martorell-Sampol L, Estévez-Arias B, Matalonga L, Laurie S, Jou-Munoz C, Lau J, Thompson R, Shen X, Engel AG, Nascimento-Osorio A, Lochmüller H and Selcen D.
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
PEDIATRIC NEUROLOGY . 157: 5-13.
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Crawford TO, Day JW, De Vivo DC, Krueger JM, Mercuri E, Nascimento-Osorio A, Pasternak A, Mazzone ES, Duong T, Song G, Marantz JL, Baver S, Yu D, Liu L and Darras BT.
Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study
FRONTIERS IN NEUROLOGY . 15: 1419791-1419791. Nº de citas: 5
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Fernandez-Simon, Esther, Pinol-Jurado, Patricia, Gokul-Nath, Rasya, Unsworth, Adrienne, Alonso-Perez, Jorge, Schiava, Marianela, Nascimento-Osorio A, Tasca, Giorgio, Queen, Rachel, Cox, Dan, Suarez-Calvet, Xavier and Diaz-Manera, Jordi.
Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy
Frontiers in Cell and Developmental Biology . 12: . Nº de citas: 1
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Cao X, Lake M, Van der Hoeven G, Claes Z, Del Pino García J, Lemaire S, Greiner EC, Karamanou S, Van Eynde A, Kettenbach AN, Natera-de Benito D, Carrera-García L, Hernando-Davalillo C, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R and Bollen M.
SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1
NATURE COMMUNICATIONS . 15(1): 5359-5359. Nº de citas: 3