Publicaciones
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Zwartkruis MM, Elferink MG, Gommers D, Signoria I, Blasco-Pérez L, Costa-Roger M, van der Sel J, Renkens IJ, Green JW, Kortooms JV, Vermeulen C, Straver R, van Deutekom HWM, Veldink JH, Asselman F, Tizzano E, Wadman RI, van der Pol WL, van Haaften GW and Groen EJN.
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.
GENOME MEDICINE . 17(1): 26-26.
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Favata A, Gallart-Agut R, van Noort L, Exposito-Escudero JM, Medina J, Torras C, Natera-de Benito D, Font-Llagunes JM and Pàmies R.
Imu-based kinematic analysis to enhance upper limb motor function assessment in neuromuscular diseases.
JOURNAL OF NEUROENGINEERING AND REHABILITATION . 22(1): 63-63.
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White, Tom, López-Marquez A, Badosa, Carmen, Jimenez-Mallebrera C, Samitier, Josep, Giannotti, Marina Ines and Lagunas, Anna.
Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies
JOURNAL OF THE ROYAL SOCIETY INTERFACE . 22(224): .
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Cavazza A, Molina-Estévez FJ, Plaza-Reyes A, Ronco V, Naseem A, Malensek S, Pecan P, Santini A, Heredia P, Aguilar-González A, Boulaiz H, NI Q, Cortijo-Gutierrez M, Pavlovic K, Herrera I, de la Cerda B, García-Tenorio EM, Richard E, Granados-Principal S, López-Marquez A, Kober M, Stojanovic M, Vidakovic M, Santos-Garcia I, Blazquez L, Haugthon E, Yan D, Sanchez-Martin RM, Mazini L, Gonzalez-Aseguinolaza G, Miccio A, Rio P, Desviat LR, Gonçalves M, Peng L, Jimenez-Mallebrera C, Martin-Molina F, Gupta D, Lainscek D, Luo Y and Benabdellah K.
Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group
MOLECULAR THERAPY NUCLEIC ACIDS . 36(1): 102457.
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Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
EUROPEAN JOURNAL OF HUMAN GENETICS . 33(2): 239-247. Nº de citas: 2
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Della Marina A, Koutsoulidou A, Natera-de Benito D, Tykocinski LO, Tomazou M, Georgiou K, Laner A, Kölbel H, Nascimento-Osorio A, Ortez-Gonzalez CI, Abicht A, Thakur BK, Lochmüller H, Phylactou LA, Ruck T, Schara-Schmidt U, Kale D, Hentschel A and Roos A.
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
Acta neuropathologica communications . 13(1): 29-29.
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Henzi BC, Putananickal N, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, Amthor H, Childs AM, Deconinck N, Horrocks I, Houwen-van Opstal S, Laugel V, Lobato ML, Nascimento-Osorio A, Schara-Schmidt U, Spinty S, von Moers A, Lawrence F, Hafner P, Dorchies OM and Fischer D.
Safety and efficacy of tamoxifen in non-ambulant patients with Duchenne muscular dystrophy: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial (TAMDMD Group B)
NEUROMUSCULAR DISORDERS . 47: 105275-105275. Nº de citas: 1
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Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento-Osorio A, Natera-de Benito D, Draper I, Bruels CC, Pacak CA and Kang PB.
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development
FEBS JOURNAL . : .
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Mendell JR, Muntoni F, McDonald CM, Mercuri EM, Ciafaloni E, Komaki H, Leon-Astudillo C, Nascimento-Osorio A, Proud C, Schara-Schmidt U, Veerapandiyan A, Zaidman CM, Guridi M, Murphy AP, Reid C, Wandel C, Asher DR, Darton E, Mason S, Potter RA, Singh T, Zhang W, Fontoura P, Elkins JS and Rodino-Klapac LR.
AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial
NATURE MEDICINE . 31(1): 332-341. Nº de citas: 11
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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: 1