Výsledky vyhledávání - "Jose Miguel Lezana-Rosales"

Akademický článek

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

Publikováno v: International Journal of Molecular Sciences, Vol 23, Iss 8, p 4230 (2022)

In the last few years, the SORL1 gene has been strongly implicated in the development of Alzheimer’s disease (AD). We performed whole-exome sequencing on 37 patients with early-onset dementia or family history suggestive of autosomal dominant demen

Externí odkaz: https://doaj.org/article/fc0b0cbd907349918ab1ecb68b3326b7

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New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene

Autor: Ana Arteche‐López, Almudena Avila‐Fernandez, Alejandra Damian, Emma Soengas‐Gonda, Rubén Pérez de la Fuente, Patricia Ramos Gómez, Jesús Gallego Merlo, Laura Horcajada Burgos, Carlos Cemillán Fernández, Jose Miguel Lezana Rosales, Juan Francisco González Martínez, Juan Francisco Quesada‐Espinosa, Marta Corton, Maria Paz Guerrero‐Molina

Publikováno v: Clinical Genetics. 103:236-241

The biallelic pathogenic repeat (AAGGG)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c4e13b922bf2a0416589dcc09c8c7e6
https://doi.org/10.1111/cge.14249

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Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling

Autor: Irene Hidalgo Mayoral, Antonio Martínez-Salio, Sara Llamas-Velasco, Irene Gómez-Majón, Ana Arteche-López, Juan Francisco Quesada-Espinosa, Carmen Palma Milla, Jose Miguel Lezana Rosales, Rubén Pérez de la Fuente, Alexandra Juárez Rufián, Olalla Sierra Tomillo, Maria Teresa Sánchez Calvín, Maria José Gómez Rodríguez, Patricia Ramos Gómez, Alberto Villarejo-Galende, Jaime Díaz-Guzmán, Maria Ángeles Ortega-Casarrubios, Patricia Calleja-Castaño, Marta Moreno-García

Publikováno v: European journal of medical genetics. 65(8)

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an autosomal recessive vascular disorder caused by biallellic variants in HTRA1. Recently, it has been reported that several heterozygous mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec6a1269ad393a3e1b5f5bfd100822ad
https://pubmed.ncbi.nlm.nih.gov/35705147

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Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review

Autor: Maria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, Ana Arteche-López, Maria Teresa Sánchez-Calvín, Juan Francisco Quesada-Espinosa, Irene Gómez-Manjón, Carmen Palma-Milla, Jose Miguel Lezana-Rosales, Ruben Pérez de la Fuente, Maria-Luisa Martin-Ramos, Manuela Fernández-Guijarro, Marta Moreno-García, Maria Isabel Alvarez-Mora

Publikováno v: Genes. 13:1609

Fragile X syndrome (FXS) is caused by an abnormal expansion of the number of trinucleotide CGG repeats located in the 5′ UTR in the first exon of the FMR1 gene. Size and methylation mosaicisms are commonly observed in FXS patients. Both types of mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b3efd01202f51828b24e06894e418439
https://doi.org/10.3390/genes13091609

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Expanding the clinical and genetic spectrum of

Autor: Sara, Llamas-Velasco, Ana, Arteche-López, Antonio, Méndez-Guerrero, Verónica, Puertas Martín, Juan Francisco, Quesada Espinosa, Jose Miguel, Lezana Rosales, Marta, González-Sánchez, Victor Antonio, Blanco-Palmero, Carmen, Palma Milla, Alejandro, Herrero-San Martín, Daniel, Borrego-Hernández, Alberto, García-Redondo, David Andrés, Pérez-Martínez, Alberto, Villarejo-Galende

Publikováno v: Amyotrophic lateral sclerosisfrontotemporal degeneration. 22(7-8)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3e267219b5881e868a1ace232958d69d
https://pubmed.ncbi.nlm.nih.gov/34009082

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