Publicaciones
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Cattinari MG, Pascual-Pascual SI, de Lemus M, Medina J, Dumont M, Rebollo P and Vázquez-Costa JF.
Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers.
ORPHANET JOURNAL OF RARE DISEASES . 20(1): 274-274.
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Madrigal I, Villar-Vera C, Arca G, Exposito-Escudero JM, Rodríguez-Revenga L, Piolatti-Luna A, Muelas N, Vilchez R, Ciutad Celdran M, Codina-Bergadà A, Estévez-Arias B, Carrera-García L, Ortez-Gonzalez CI, Rodriguez-Carunchio L, Sebastiani G, Azorin I, Nascimento-Osorio A, Jou-Munoz C, Vilchez JJ and Natera-de Benito D.
MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY . 51(3): .
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Osegui-Barcenilla N, Sendino M, Martín-González S, González-Moro I, Benito-Agustino A, Torres-Conde N, López-Martínez A, Jimenez-Mallebrera C, López-Marquez A and Arechavala-Gomeza V.
Collablots: Quantification of Collagen VI Levels and Its Structural Disorganisation in Cell Cultures From Patients With Collagen VI-Related Dystrophies.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY . 51(3): .
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Trujillano L, Valenzuela I, Costa-Roger M, Cuscó I, Fernandez-Alvarez P, Cueto-González A, Lasa-Aranzasti A, Masotto B, Abulí A, Codina-Solà M, Del Campo M, Ruiz Moreno JA, Pardo Domínguez C, Palma Milla C, Pérez de la Fuente R, Quesada-Espinosa JF, Núñez-Enamorado N, Gener B, Ballesta-Martínez MJ, Brea-Fernández AJ, Fernández-Prieto M, Trujillo-Quintero JP, Ruiz A, Santos-Simarro F, Rosello M, Orellana C, Martinez F, Martinez-Monseny T, Casas-Alba D, Serrano M, Palomares-Bralo M, Rikeros-Orozco E, Gómez-Cano MÁ, Tirado-Requero P, Pié Juste J, Ramos FJ, García-Arumí E and Tizzano E.
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome
CLINICAL GENETICS . 107(6): 646-662.
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Pérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero-Siles D, Codina-Bergadà A, Ortez-Gonzalez CI, Medina J, De Sena-De Cabo L, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Tizzano E, Nascimento-Osorio A and Natera-de Benito D.
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum
Annals of Clinical and Translational Neurology . : .
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Segarra-Casas A, Domínguez-González C, Natera-de Benito D, Kapetanovic S, Hernández-Laín A, Estévez-Arias B, Llansó L, Ortez-Gonzalez CI, Jou-Munoz C, Martí-Carrera I, López-Marquez A, Rodríguez MJ, González-Mera L, Nedkova V, Fernández-Torrón R, Rodríguez-Santiago B, Jimenez-Mallebrera C, Juntas-Morales R, López-de Munain A, Surrallés J, Nascimento-Osorio A, Gallardo E, Olive-Valls M, Gallano P and González-Quereda L.
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology . : .
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Carrera-García L, Exposito-Escudero JM, Ñungo Garzón NC, Pareja A, Fernández-García MA, Ortez-Gonzalez CI, Medina J, Martínez-Salcedo E, Urbano M, Grimalt MA, Munell F, García-Campos Ó, Roca S, Obdulia Moya Arcos, Estévez-Arias B, Balsells S, Frongia AL, Borràs A, Puig-Ram C, García Romero M, Calvo R, López-Lobato M, Pitarch-Castellano I, Natera-de Benito D and Nascimento-Osorio A.
Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies
JOURNAL OF NEUROLOGY . 272(5): 331-331.
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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. Nº de citas: 1
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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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Moreno, CAM, Artilheiro, MC, Fonseca, ATQSM, da Silva, AMS, Fernandes, TR, Camelo, CG, Paiva, MA, di Pace, FT, Pessoa, ALS, Braga, VLL, Mariano, TC, Estephan, ED, Morita, MD, Covaleski, APPM, van der Linden, V, Tomaselli, PJ, Scarpellini, GR, Gurgel-Giannetti, J, Sobrinho, LMF, de Oliveira, TM, Mendonca, RH, Lucas, ELS, Cruzeiro, MM, Junior, CWP, Junior, WM, Sobreira, CFD, Oliveira, ASB, Kok, F, Hirano, M, Nascimento-Osorio A, Schlesinger, D and Zanoteli, E.
Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort
SCIENTIFIC REPORTS . 15(1): .