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A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
Jakkula E, Lohiniva J, Capone A, Bonafe L, Marti M, Schuster V, Giedion A, Eich G, Boltshauser E, Ala-Kokko L, Superti-Furga A. Jakkula E, et al. Among authors: marti m. J Med Genet. 2003 Dec;40(12):942-8. doi: 10.1136/jmg.40.12.942. J Med Genet. 2003. PMID: 14684695 Free PMC article. No abstract available.
Knockout mice with pituitary malformations help identify human cases of hypopituitarism.
Martinez-Mayer J, Brinkmeier ML, O'Connell SP, Ukagwu A, Marti MA, Miras M, Forclaz MV, Benzrihen MG, Cheung LYM, Camper SA, Ellsworth BS, Raetzman LT, Pérez-Millán MI, Davis SW. Martinez-Mayer J, et al. Among authors: marti ma. Genome Med. 2024 May 31;16(1):75. doi: 10.1186/s13073-024-01347-y. Genome Med. 2024. PMID: 38822427 Free PMC article.
Genome-wide DNA methylome and transcriptome profiling reveals key genes involved in the dysregulation of adipose-stem cells in Crohn's disease.
Monfort-Ferré D, Boronat-Toscano A, Sánchez-Herrero JF, Caro A, Menacho M, Vañó-Segarra I, Martí M, Espina B, Pluvinet R, Cabrinety L, Abadia C, Ejarque M, Nuñez-Roa C, Maymo-Masip E, Sumoy L, Vendrell J, Fernández-Veledo S, Serena C. Monfort-Ferré D, et al. Among authors: marti m. J Crohns Colitis. 2024 May 15:jjae072. doi: 10.1093/ecco-jcc/jjae072. Online ahead of print. J Crohns Colitis. 2024. PMID: 38747506
Levodopa-Induced Dyskinesias are Frequent and Impact Quality of Life in Parkinson's Disease: A 5-Year Follow-Up Study.
Santos-García D, de Deus T, Cores C, Feal Painceiras MJ, Íñiguez Alvarado MC, Samaniego LB, López Maside A, Jesús S, Cosgaya M, García Caldentey J, Caballol N, Legarda I, Hernández-Vara J, Cabo López I, López Manzanares L, González-Aramburu I, Ávila A, Gómez-Mayordomo V, Nogueira V, Dotor García-Soto J, Borrué-Fernández C, Solano B, Álvarez Sauco M, Vela L, Escalante S, Cubo E, Mendoza Z, Pareés I, Sánchez Alonso P, Alonso Losada MG, López-Ariztegui N, Gastón I, Kulisevsky J, Seijo M, Valero C, Alonso Redondo R, Buongiorno MT, Ordás C, Menéndez-González M, McAfee D, Martinez-Martin P, Mir P; COPPADIS Study Group. Santos-García D, et al. Mov Disord Clin Pract. 2024 May 15. doi: 10.1002/mdc3.14056. Online ahead of print. Mov Disord Clin Pract. 2024. PMID: 38747234
Pilot therapeutic education program in multiple system atrophy: Safety, quality of life and satisfaction from a national registry based longitudinal study.
Cámara A, Compta Y, Baixauli M, Maragall L, Pérez-Soriano A, Montagut N, Ahuir M, Ludeña E, Peri L, Fernández N, Villote S, Lopez de Los Reyes JC, Navarro-Otano J, Zaro I, Muñoz E, Buongiorno M, Caballol N, Pont-Sunyer C, Puente V, Giraldo D, Valldeoriola F, Lombraña M, Martí MJ. Cámara A, et al. Among authors: marti mj. Parkinsonism Relat Disord. 2024 May 3;124:106993. doi: 10.1016/j.parkreldis.2024.106993. Online ahead of print. Parkinsonism Relat Disord. 2024. PMID: 38735163
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes.
Martinez-Mayer J, Vishnopolska S, Perticarari C, Garcia LI, Hackbartt M, Martinez M, Zaiat J, Jacome-Alvarado A, Braslavsky D, Keselman A, Bergadá I, Marino R, Ramírez P, Garrido NP, Ciaccio M, Di Palma MI, Belgorosky A, Forclaz MV, Benzrihen G, D'Amato S, Cirigliano ML, Miras M, Nuñez AP, Castro L, Mallea-Gil MS, Ballarino C, Latorre-Villacorta L, Casiello AC, Hernandez C, Figueroa V, Alonso G, Morin A, Guntsche Z, Lee H, Lee E, Song Y, Marti MA, Perez-Millan MI. Martinez-Mayer J, et al. Among authors: marti ma. J Clin Endocrinol Metab. 2024 May 8:dgae320. doi: 10.1210/clinem/dgae320. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38717911
1,325 results