Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Karin Kleinsteuber"'
Autor:
Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo, Yves Mathieu, Alejandra Trangulao, Nicholas Earle, Claudia Castiglioni, Jorge Díaz, Mario Campero, Ricardo Hughes, Carmen Vargas, Rocío Cortés, Karin Kleinsteuber, Ignacio Acosta, J. Andoni Urtizberea, Nicolas Lévy, Marc Bartoli, Martin Krahn, Lilian Jara, Pablo Caviedes, Svetlana Gorokhova, Jorge A. Bevilacqua
Publikováno v:
Genes, Vol 13, Iss 6, p 1076 (2022)
Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We now report the genetic findings of a series of Ch
Externí odkaz:
https://doaj.org/article/b6d4a30088a545e0b6883988fde21b16
Publikováno v:
Revista Médica Clínica Las Condes, Vol 29, Iss 6, Pp 622-635 (2018)
RESUMEN: Las miopatías metabólicas son enfermedades que afectan el músculo esquelético. Son causadas por deficiencias enzimáticas genéticamente determinadas, que afectan el metabolismo del glicógeno, de los lípidos, de la cadena respiratoria
Externí odkaz:
https://doaj.org/article/db451078fdc94b7796db6d9763b7f70e
Publikováno v:
Revista Médica Clínica Las Condes, Vol 29, Iss 5, Pp 553-559 (2018)
RESUMEN: La rabdomiólisis resulta de la destrucción del tejido muscular con liberación de sus componentes a la circulación sistémica, lo que puede ser potencialmente grave. Sus causas pueden ser adquiridas o hereditarias (genéticas-metabólicas
Externí odkaz:
https://doaj.org/article/328da1aec01e4769b957574c3344293e
Autor:
Susan V. Smalley, Yudith Preiss, José Suazo, Javier Andrés Vega, Isidora Angellotti, Carlos F. Lagos, Enzo Rivera, Karin Kleinsteuber, Javier Campion, J. Alfredo Martínez, Alberto Maiz, José Luis Santos
Publikováno v:
Genetics and Molecular Biology, Vol 38, Iss 1, Pp 30-36 (2015)
Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol
Externí odkaz:
https://doaj.org/article/8c4aa20bed8740f3b713e55ad5915b7d
Autor:
Carolina González, Alina Ahtamon, Walter Brokering, María Catalina Budge, María José Cadagan, Pamela Jofre, Nadia Muñoz, Ximena Ocampo, Felipe Pizarro, Nakita Reyes, Pamela San-Martín, María Paz Silva, María Gabriela Ugarte, Ernesto Vega, Loreto Vergara, Francisca Yuri, Karin Kleinsteuber, María de Los Ángeles Avaria, Arnoldo Riquelme
Publikováno v:
Revista médica de Chile. 150:381-390
Autor:
Bevilacqua, Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo, Yves Mathieu, Alejandra Trangulao, Nicholas Earle, Claudia Castiglioni, Jorge Díaz, Mario Campero, Ricardo Hughes, Carmen Vargas, Rocío Cortés, Karin Kleinsteuber, Ignacio Acosta, J. Andoni Urtizberea, Nicolas Lévy, Marc Bartoli, Martin Krahn, Lilian Jara, Pablo Caviedes, Svetlana Gorokhova, Jorge A.
Publikováno v:
Genes; Volume 13; Issue 6; Pages: 1076
Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We now report the genetic findings of a series of Ch
Autor:
Gabriele Siciliano, Sonia Messina, David Gómez-Andrés, A. Reghan Foley, Luisa Politano, Pascal Sabouraud, Hirofumi Komaki, Rachel Alvarez, Adele D'Amico, Sandra Donkervoort, Pomi Yun, Vincent Laugel, Gina Norato, Hui Xiong, Lorenzo Maggi, Edmar Zanoteli, Susana Quijano-Roy, Monique M. Ryan, Thomas Voit, Gisèle Bonne, Ulrike Schara, Claudia Castiglioni, Ricardo Erazo-Torricelli, Carsten G. Bönnemann, Karin Kleinsteuber, Rabah Ben Yaou, Chiara Marini-Bettolo, Emmanuelle Lagrue, M. Mayer, Tyler Mark Pierson, Anna Sarkozy, Isabelle Desguerre, Sandra Mercier, Ivana Dabaj, Andrés Nascimento, Marta Bertoli, Nicolas Deconinck, Francesco Muntoni, Liliana Vercelli, Eugenio Mercuri, Akihiko Ishiyama, Soledad Monges, Grace Yoon, Juliana Gurgel-Giannetti
Publikováno v:
Scientia
Brain communications, vol 3, iss 3
Brain communications, vol 3, iss 3
Laminopaties; Distròfia muscular; Múscul estriat Laminopatías; Distrofia muscular; Músculo estriado Laminopathies; Muscular dystrophy; Striated muscle Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e9472afd51351be970c9b9d192e60a7
https://www.ncbi.nlm.nih.gov/pubmed/34240052
https://www.ncbi.nlm.nih.gov/pubmed/34240052
Autor:
Carmen Paz Vargas Leal, Raul G. Escobar, María de Los Angeles Beytía Reyes, Juan Carlos Casar Leturia, Marcela Lagos Lucero, Rocío Cortés Zepeda, Damien Sternberg, María de los Angeles Avaria Benapres, Karin Kleinsteuber Saa, Daniela Avila-Smirnow, Oslando Padilla Pérez, Cecilia Mellado Sagredo
Publikováno v:
Neuromuscular disorders : NMD. 30(7)
Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1. Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A, is a relatively less frequent but more severe form. Most reports of
Autor:
Francisco Javier Aguirre‐Rodríguez, Susana G. Kalko, Elena Martín-Hernández, Fabiola Mavillard, Michio Hirano, Javier Torres-Torronteras, Bruce Levin, Marcos Madruga-Garrido, Cecilia Jimenez-Mallebrera, Yuqi Tu, Juan P. Morealejo‐Aycinena, Yuelin Long, Karin Kleinsteuber, Ramon Martí, Itxaso Marti, Jasim Uddin, Olga Serrano, Caterina Garone, Concepcion Álvarez del Vayo, M. Alice Donati, Francina Munell, John L.P. Thompson, Carmen Paradas, Cristina Domínguez-González, Andrés Nascimento, M. Dolores Sardina, Kristen Engelstad
Publikováno v:
ANNALS OF NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Digital.CSIC. Repositorio Institucional del CSIC
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Ann Neurol
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Digital.CSIC. Repositorio Institucional del CSIC
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Ann Neurol
[Objective] Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and multiple deletions of mtDNA that manifest predominantly as a myopathy usually beginn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cba628f1aa18bfad416c5dc37015aa45
https://hdl.handle.net/10668/14012
https://hdl.handle.net/10668/14012
Autor:
Ximena Varela E, Carmen Paz Vargas L, María de los Ángeles Avaria B, Karin Kleinsteuber S., Rocío Cortés Z
Publikováno v:
Revista médica de Chile v.144 n.1 2016
SciELO Chile
CONICYT Chile
instacron:CONICYT
SciELO Chile
CONICYT Chile
instacron:CONICYT
Pediatric Status Epilepticus (SE) is an emergency situation with high morbidity and mortality that requires early and aggressive management. The minimum time criterion to define SE was reduced from 30 to 5 minutes, defined as continuous seizure activ