Publicaciones
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Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento-Osorio A, Ortez-Gonzalez CI, Benito DN, Olive-Valls M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M and Gallano P.
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
GENES . 11(5): . Nº de citas: 19
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Garrido-Pérez N, Vela-Sebastián A, López-Gallardo E, Emperador S, Iglesias-Jimenez E, Meade P, Jimenez-Mallebrera C, Montoya C, Bayona-Bafaluy MP and Ruiz-Pesini E.
Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(9): . Nº de citas: 6
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Trifunov S, Natera-de Benito D, Exposito Escudero JM, Ortez-Gonzalez CI, Medina J, Cuadras-Palleja D, Badosa C, Carrera L, Nascimento-Osorio A and Jimenez-Mallebrera C.
Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
FRONTIERS IN NEUROLOGY . 11: 304-304. Nº de citas: 12
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Natera-de Benito D, Muchart-Lopez J, Debora Coritza Itzep Perez, Ortez-Gonzalez CI, González-Quereda L, Gallano P, Ramírez-Camacho A, Aparicio J, Domínguez-Carral J, Carrera-García L, Exposito-Escudero JM, Pardo Cardozo N, Cuadras-Palleja D, Codina-Bergadà A, Jou-Munoz C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento-Osorio A and San Antonio-Arce MV.
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization
Epilepsia . 61(5): 971-983. Nº de citas: 11
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Mercuri E, Muntoni F, Nascimento-Osorio A, Tulinius M, Buccella F, Morgenroth LP, Gordish-Dressman H, Jiang J, Trifillis P, Zhu J, Kristensen A, Santos CL, Henricson EK, McDonald CM, Desguerre I, STRIDE and CINRG Duchenne Natural History Investigators.
Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study
JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH . 9(5): 341-360. Nº de citas: 59
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Casas-Alba D, Clotet J, Inarejos E, Jou-Munoz C, Fons-Estupina C and Molera C.
Broadening the spectrum of neonatal hemochromatosis
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE . 33(6): 1024-1026. Nº de citas: 5
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Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Leigh W, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero-Siles D, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Garcia-Cazorla A, Gross C, O'Callaghan-Gordo M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero-Sanchez R, Sarquella-Brugada G, Lochmüller H, Jimenez-Mallebrera C, Taylor RW, Artuch-Iriberri R, Kirschner J, Grünert SC, Roos A and Horvath R.
Clinical presentation and proteomic signature of patients with TANGO2 mutations
JOURNAL OF INHERITED METABOLIC DISEASE . 43(2): 297-308. Nº de citas: 32
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Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E and Balcells S.
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
ORPHANET JOURNAL OF RARE DISEASES . 15(1): 44-44. Nº de citas: 16
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Milisenda JC, García AM, Jou-Munoz C, Pinal-Fernandez I, O'Callaghan AS and Grau JM.
Sporadic inclusion body myositis: Diagnostic value of p62 immunostaining.
MEDICINA CLINICA . 153(11): 437-440. Nº de citas: 1
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Girabent-Farrés M, Bagur-Calafat C, Amor-Barbosa M, Natera-de Benito D, Medina-Rincón A and Fagoaga J.
Spanish translation and validation of the Neuromuscular Module of the Pediatric Quality of Life Inventory (PedsQL): evaluation of the quality of life perceived by 5-7 years old children with neuromuscular disorders and by their parents
REVISTA DE NEUROLOGIA . 69(11): 442-452. Nº de citas: 2