Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Edmar O. Benítez‐Alonso"'
Autor:
Larissa López-Rodríguez, Yevgeniya Svyryd, Edmar O. Benítez-Alonso, Pamela Rivero-García, Leonora Luna-Muñoz, Osvaldo M. Mutchinick
Publikováno v:
Revista de Investigación Clínica, Vol 74, Iss 6 (2022)
Background: Severe congenital neutropenia type 4 (SCN4) is a rare autosomal recessive granulopoiesis disorder caused by G6PC3 gene pathogenic variants. The estimated prevalence is 1/10,000,000 people. Over 90% of patients present a syndromic form wit
Externí odkaz:
https://doaj.org/article/3bd1e3a06b7c4177848c8b2ea782ca72
Autor:
Adriana PerezGrovas‐Saltijeral, Adriana Ochoa‐Morales, Aurelio Jara‐Prado, Rafael Velázquez‐Cruz, Berenice Rivera‐Paredez, David Dávila‐OrtizdeMontellano, Edmar O. Benítez‐Alonso, Mónica Santamaría‐Olmedo, Rosalba Sevilla‐Montoya, Ernesto Marfil‐Marín, Margarita Valdés‐Flores, Leticia Martínez‐Ruano, Alejandra Camacho‐Molina, Alberto Hidalgo‐Bravo
Publikováno v:
European Journal of Neurology. 30:612-621
Juvenile-onset Huntington disease (JHD) is defined when symptoms initiate before 20 years of age. Mechanisms explaining differences between juvenile and adult onset are not fully understood. Our aim was to analyze the distribution of initial symptoms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2115593f24b57e360362b65d56e0a95
https://doi.org/10.1111/ene.15644
https://doi.org/10.1111/ene.15644
Autor:
Edmar O Benítez-Alonso, Juan C López-Hernández, Javier A Galnares-Olalde, Raúl E Alcalá, Edwin S Vargas-Cañas
Publikováno v:
Cureus. 14(4)
Several clinical phenotypes have been described related to the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d3edb37ca95661f0094a7a5c3c3e10f
https://pubmed.ncbi.nlm.nih.gov/35509735
https://pubmed.ncbi.nlm.nih.gov/35509735
Autor:
PerezGrovas‐Saltijeral, Adriana, Ochoa‐Morales, Adriana, Jara‐Prado, Aurelio, Velázquez‐Cruz, Rafael, Rivera‐Paredez, Berenice, Dávila‐OrtizdeMontellano, David, Benítez‐Alonso, Edmar O., Santamaría‐Olmedo, Mónica, Sevilla‐Montoya, Rosalba, Marfil‐Marín, Ernesto, Valdés‐Flores, Margarita, Martínez‐Ruano, Leticia, Camacho‐Molina, Alejandra, Hidalgo‐Bravo, Alberto
Publikováno v:
European Journal of Neurology; Mar2023, Vol. 30 Issue 3, p612-621, 10p
Autor:
McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E., Bristow, Sara L., Bonkowsky, Joshua L., Perry, Michael Scott, Berg, Anne T., Borlot, Felippe, Esplin, Edward D., Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L., Aradhya, Swaroop, Haldeman-Englert, Chad R., Levy, Rebecca J., Parachuri, Venu G., Lay-Son, Guillermo, de Montellano, David J. Dávila-Ortiz, Ramirez-Garcia, Miguel Angel
Publikováno v:
JAMA Neurology; Dec2022, Vol. 79 Issue 12, p1267-1276, 10p
Autor:
López-Rodríguez, Larissa, Svyryd, Yevgeniya, Benítez-Alonso, Edmar O., Rivero-García, Pamela, Luna-Muñoz, Leonora, Mutchinick, Osvaldo M.
Publikováno v:
Clinical & Translational Investigation / Revista de Investigación Clínica; Nov/Dec2022, Vol. 74 Issue 6, p328-339, 12p