Publicacions
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Villar-Quiles RN, Foley AR, Metay C, Orbach R, Donkervoort S, Labella B, Natera-de Benito D, Nascimento-Osorio A, Estévez-Arias B, Jimenez-Mallebrera C, Ortez-Gonzalez CI, Domínguez-González C, Horga A, Marti Carrera MI, Fernandez Torron R, Kurbatov S, Chausova P, Murtazina A, Subbotin D, Kuchina A, Frezzati R, Carvalho A, Waschbisch A, Allamand V, Zou Y, Richard P, Bönnemann CG and Stojkovic T.
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G
Journal of Neuromuscular Diseases . : .
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Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell PD, Millard J, Lee R, Cohen A, Ahmad R, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Hove HB, Mancini GMS, Schot R, Barakat TS, Richmond CM, Lauzon J, Ibrahim AIE, Nava C, Héron D, van Aalst MMA, Atemin S, Sleptsova M, Aleksandrova I, Todorova A, Watkins DL, Kozenko MA, Natera-de Benito D, Ortez-Gonzalez CI, Estévez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G and Korb E.
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
BRAIN . 149(1): 343-359. Nº de cites: 5
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Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease
ANNALS OF NEUROLOGY . 98(6): 1335-1351. Nº de cites: 2
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Yépez VA, Demidov G, Ellwanger K, Laurie S, Luknárová R, Joseph Maran MI, Hentrich T, Sagath L, van der Sanden B, Astuti G, Neveling K, Batlle-Masó L, Beijer D, Brechtmann F, Caballero-Oteyza A, Dabad M, Denommé-Pichon AS, Doornbos C, Eddafir Z, Estévez-Arias B, Kilicarslan OA, Kolen IHM, Kraß L, Lohmann K, Londhe S, López-Martín E, Maassen K, Macken W, Martínez-Delgado B, Mei D, Mertes C, Minardi R, Morsy H, Mueller JS, Natera-de Benito D, Nelson I, Oud MM, Paramonov I, Picó D, Piscia D, Polavarapu K, Raineri E, Savarese M, Smal N, Steehouwer M, Steyaert W, Swertz MA, Thomsen M, Töpf A, Van de Vondel L, van der Vries G, Vitobello A, Wilke C, Zurek B, T' Hoen PB, Matalonga L, Vissers LELM, Gilissen C, Schulze-Hentrich J, Beltran S, Esteve-Codina A, Hoischen A, Gagneur J and Graessner H.
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
NATURE GENETICS . 57(10): 2361-2370. Nº de cites: 4
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Nascimento-Osorio A, Ortez-Gonzalez CI, Exposito-Escudero JM, Carrera-García L, Cerezo, S, Lotz, S, Zschaeck-Luzardo I, Alejandro Luján Feliu-Pacual, Gatnau, C, Estévez-Arias B, Tizzano E and Natera-de Benito D.
Neuromuscular diseases in pediatrics with specific treatments
MEDICINA-BUENOS AIRES . 85: 34-40.
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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 . 12(8): 1528-1547. Nº de cites: 5
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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 . 12(7): 1465-1479. Nº de cites: 1
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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): . Nº de cites: 4
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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. Nº de cites: 2
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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 cites: 12
