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Page 1
Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity.
Yupanqui-Lozno H, Bastarrachea RA, Yupanqui-Velazco ME, Alvarez-Jaramillo M, Medina-Méndez E, Giraldo-Peña AP, Arias-Serrano A, Torres-Forero C, Garcia-Ordoñez AM, Mastronardi CA, Restrepo CM, Rodriguez-Ayala E, Nava-Gonzalez EJ, Arcos-Burgos M, Kent JW Jr, Cole SA, Licinio J, Celis-Regalado LG. Yupanqui-Lozno H, et al. Among authors: restrepo cm. Genes (Basel). 2019 May 7;10(5):342. doi: 10.3390/genes10050342. Genes (Basel). 2019. PMID: 31067764 Free PMC article.
Uveitis and Multiple Sclerosis: Potential Common Causal Mutations.
de-la-Torre A, Silva-Aldana CT, Muñoz-Ortiz J, Piñeros-Hernández LB, Otero O, Domínguez A, Faciolince LA, Arcos-Holzinger M, Mastronardi C, Contreras-Bravo NC, Restrepo CM, Arcos-Burgos M. de-la-Torre A, et al. Among authors: restrepo cm. Mol Neurobiol. 2019 Dec;56(12):8008-8017. doi: 10.1007/s12035-019-1630-2. Epub 2019 Jun 3. Mol Neurobiol. 2019. PMID: 31161422 Free PMC article.
Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.
Triana-Fonseca P, Parada-Márquez JF, Silva-Aldana CT, Zambrano-Arenas D, Arias-Gomez LL, Morales-Fonseca N, Medina-Méndez E, Restrepo CM, Silgado-Guzmán DF, Fonseca-Mendoza DJ. Triana-Fonseca P, et al. Among authors: restrepo cm. Appl Clin Genet. 2021 Oct 1;14:399-408. doi: 10.2147/TACG.S317721. eCollection 2021. Appl Clin Genet. 2021. PMID: 34629887 Free PMC article.
Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings.
Aguillon D, Vasquez D, Madrigal L, Moreno S, Hernández D, Isaza-Ruget M, Lopez JJ, Landires I, Nuñez-Samudio V, Restrepo CM, Vidal OM, Vélez JI, Arcos-Holzinger M, Lopera F, Arcos-Burgos M. Aguillon D, et al. Among authors: restrepo cm. Mol Neurobiol. 2022 Jun;59(6):3845-3858. doi: 10.1007/s12035-022-02821-7. Epub 2022 Apr 14. Mol Neurobiol. 2022. PMID: 35420381
Correction to: Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings.
Aguillon D, Vasquez D, Madrigal L, Moreno S, Hernández D, Isaza-Ruget M, Lopez JJ, Landires I, Nunez-Samudio V, Restrepo CM, Vidal OM, Vélez JI, Arcos-Holzinger M, Lopera F, Arcos-Burgos M. Aguillon D, et al. Among authors: restrepo cm. Mol Neurobiol. 2022 Jun;59(6):3859. doi: 10.1007/s12035-022-02874-8. Mol Neurobiol. 2022. PMID: 35585447 No abstract available.
Correction: Uveitis and Multiple Sclerosis: Potential Common Causal Mutations.
de-la-Torre A, Silva-Aldana CT, Muñoz-Ortiz J, Piñeros-Hernández LB, Otero-Marquez O, Domínguez A, Faciolince LA, Arcos-Holzinger M, Mastronardi C, Contreras-Bravo NC, Restrepo CM, Arcos-Burgos M. de-la-Torre A, et al. Among authors: restrepo cm. Mol Neurobiol. 2023 May;60(5):2969. doi: 10.1007/s12035-023-03265-3. Mol Neurobiol. 2023. PMID: 36781740 Free PMC article. No abstract available.
76 results