Zobrazeno 1 - 10 of 134 pro vyhledávání: '"VILCHEZ, JJ"'
1
Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta‐analysis of disease progression rates in recent multicenter clinical trials
Autor: McDonald CM, A238., Sajeev, G, Yao, Z, Mcdonnell, E, Elfring, G, Souza, M, Peltz, Sw, Darras, Bt, Shieh, Pb, Cox, Da, Landry, J, Signorovitch, J, Campbell, C, Torricelli, Re, Finkel, Rs, Flanigan, Km, Goemans, N, Heydemann, P, Kaminska, A, Kirschner, J, Muntoni, F, Osorio, An, Schara, U, Sejersen, T, Sweeney, Hl, Topaloglu, H, Tulinius, M, Vilchez, Jj, Voit, T, Wong, B, Alfano, Ln, Eagle, M, James, Mk, Lowes, L, Mayhew, A, Mazzone, Es, Nelson, L, Rose, Kj, Abdel-Hamid, Hz, Apkon, Sd, Barohn, Rj, Bertini, E, Bloetzer, C, de Vaud LC, Butterfield, Rj, Chabrol, B, Chae, Jh, Jongno-Gu, Dr, Comi, Gp, Dastgir, J, Desguerre, I, Escobar, Rg, Finanger, E, Guglieri, M, Hughes, I, Iannaccone, St, Jones, Kj, Karachunski, P, Kudr, M, Lotze, T, Mah, Jk, Mathews, K, Nevo, Y, Parsons, J, Péréon, Y, de Queiroz Campos Araujo AP, Renfroe, Jb, de Mbd, R, Ryan, M, Selby, K, Tennekoon, G, Vita, G, Abdel-Hamid, H, Apkon, S, Barohn, R, Belousova, E, Brandsema, J, Bruno, C, Burnette, W, Butterfield, R, Byrne, B, Carlo, J, Chandratre, S, Comi, G, Connolly, A, De Groot, I, Deconinck, N, Dooley, J, Dubrovsky, A, Durigneux, J, Finkel, R, Frank, Lm, Harper, A, Hattori, A, Herguner, O, Iannaccone, S, Janas, J, Jong, Yj, Komaki, H, Kuntz, N, Lee, Wt, Leung, E, Mah, J, Cm, M, Mercuri, E, Mcmillan, H, Mueller-Felber, W, Lopez de Munain, A, Nakamura, A, Niks, E, Ogata, K, Pascual, S, Pegoraro, E, Pereon, Y, Renfroe, B, Sanka, Rb, Schallner, J, Sendra, Ii, Servais, L, Smith, E, Sparks, S, Victor, R, Wicklund, M, Wilichoswki, E, Wong, B.
Publikováno v: Muscle & Nerve
Introduction In this study we characterized disease progression over 48 weeks among boys receiving deflazacort vs prednisone/prednisolone placebo arm treatment in two recent Duchenne muscular dystrophy (DMD) clinical trials. Methods Ambulatory boys w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226b242305b42902003713d1980f97f5
https://doi.org/10.1002/mus.26736
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2
A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging
Autor: Muelas N, Frasquet M, Más-Estellés F, Martí P, Martínez-Vicente L, Sevilla T, Azorín I, Poyatos-García J, Argente-Escrig H, Vílchez R, Vázquez-Costa JF, Bataller L, Vilchez JJ
Publikováno v: EUROPEAN JOURNAL OF NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Laing myopathy is characterized by a broad clinical and pathological variability. Muscle imaging studies are limited. We aim to delineate muscle imaging profiles and validate imaging analysis as an outcome measure.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::2f2297fb750d83a64cc69de5762132da
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13150
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3
Clinical and genetic spectrum of a large cohort of patients with delta-sarcoglycan muscular dystrophy
Autor: Alonso-Perez, J, Gonzalez-Quereda, L, Bruno, C, Panicucci, C, Alavi, A, Nafissi, S, Nilipour, Y, Zanoteli, E, Isihi, LMD, Melegh, B, Hadzsiev, K, Muelas, N, Vilchez, JJ, Dourado, ME, Kadem, N, Kutluk, G, Umair, M, Younus, M, Pegorano, E, Bello, L, Crawford, TO, Suarez-Calvet, X, Topf, A, Guglieri, M, Marini-Bettolo, C, Gallano, P, Straub, V, Diaz-Manera, J
Publikováno v: BRAIN
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. Delta-sarcoglycanopathy (LGMDR6)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a4396d1fc624ed7326fcf78619b2e9c1
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=14931
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4
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy
Autor: Campbell, C, Barohn, RJ, Bertini, E, Chabrol, B, Comi, GP, Darras, BT, Finkel, RS, Flanigan, KM, Goemans, N, Iannaccone, ST, Jones, KJ, Kirschner, J, Mah, JK, Mathews, KD, McDonald, CM, Mercuri, E, Nevo, Y, Pereon, Y, Ben Renfroe, J, Ryan, MM, Sampson, JB, Schara, U, Sejersen, T, Selby, K, Tulinius, M, VILCHEZ, JJ, Voit, T, Wei, LJ, Wong, BL, Elfring, G, Souza, M, McIntosh, J, Trifillis, P, Peltz, SW, Muntoni, F, PTC124-GD-007-Study Grp, ACT DMD Study Grp, Clinical Evaluator Training Grp
Publikováno v: Journal of Comparative Effectiveness Research
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Aim:Assess the totality of efficacy evidence for ataluren in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD).Materials & methods:Data from the two completed randomized controlled trials (ClinicalTrials.gov: NCT00592553; NCT0182648
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::edd110e20c23be981bc90e66cf3ae59c
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=12630
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5
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
Autor: Lupo, V, Frasquet, M, Sanchez-Monteagudo, A, Pelayo-Negro, AL, Garcia-Sobrino, T, Sedano, MJ, Pardo, J, Misiego, M, Garcia-Garcia, J, Sobrido, MJ, Martinez-Rubio, MD, Chumillas, MJ, Vilchez, JJ, Vazquez-Costa, JF, Espinos, C, SEVILLA, T
Publikováno v: JOURNAL OF MEDICAL GENETICS
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Background Mutations in the metalloendopeptidase (MME) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in MME were linked to other late-onset autosomal dominant polyne
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::714a5c14d8011f9ec6736bc489d9b82b
https://fundanet.cipf.es/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=2247
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6
Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia
Autor: Vázquez-Costa JF, Beltrán E, Sopena P, Sabater A, Cardona F, Vilchez JJ, Pérez-Tur J, Sevilla T
Publikováno v: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::549da35cd3686cb45da1d70cc6466a8d
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=4551
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7
Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model
Autor: Bargiela A, Cerro-Herreros E, Fernandez-Costa JM, Vilchez JJ, Llamusi B, Artero R
Publikováno v: DISEASE MODELS & MECHANISMS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Muscle mass wasting is one of the most debilitating symptoms of myotonic dystrophy type 1 (DM1) disease, ultimately leading to immobility, respiratory defects, dysarthria, dysphagia and death in advanced stages of the disease. In order to study the m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::cf1232559fbcfe104325d001ae9d8208
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1743
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8
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/-Cardiac Myosin (MYH7) Distal Myopathy
Autor: Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG
Publikováno v: HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/-cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy. The mechanisms by which
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::434359635dd96e0d98098c4d42de53f2
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1753
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9
Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients
Autor: Fernandez-Costa JM, Garcia-Lopez A, Zuñiga S, Fernandez-Pedrosa V, Felipo-Benavent A, Mata M, Jaka O, Aiastui A, Hernandez-Torres F, Aguado B, Perez-Alonso M, Vilchez JJ, Lopez de Munain A, Artero RD
Publikováno v: HUMAN MOLECULAR GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Myotonic dystrophy type 1 (DM1) is caused by the expansion of CTG repeats in the 3' untranslated region of the DMPK gene. Several missplicing events and transcriptional alterations have been described in DM1 patients. A large number of these defects
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::5053b73f324c8f991c2bf29247991b46
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1742
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10
Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease
Autor: Berciano, J, Sevilla, T, Casasnovas, C, Sivera, R, Vilchez, JJ, Infante, J, Ramon, C, Pelayo-Negro, AL, Illa, I
Publikováno v: NEUROLOGIA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Introduction: Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance with the inheritance pattern and degree of slowing of motor conduction velocity (MCV) of the median nerve, CMT encompasses five main form
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::09e26ccc48dcb336d111d72496db1f1a
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11397
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