Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Joaquin Navascues"'
Autor:
Nuria T. Villagra, Joaquin Navascues, Iñigo Casafont, J. Fernando Val-Bernal, Miguel Lafarga, Maria T. Berciano
Publikováno v:
Neurobiology of Disease, Vol 21, Iss 1, Pp 181-193 (2006)
It is well known that the cell nucleus is organized in structural and functional compartments involved in transcription, RNA processing and protein modifications such as conjugation with SUMO-1 and proteolysis. Promyelocytic leukaemia (PML) bodies ar
Externí odkaz:
https://doaj.org/article/63d6e55f15fc48b7b828987dad2f92bf
Autor:
Francisco España, Vanesa Andreu, Miguel Pocovi, José C. Rodríguez-Rey, Joaquin Navascues, Alfonso Bolado-Carrancio, Pilar Giraldo, Pilar Irún, Pilar Alfonso, Silvia Navarro, Pilar Medina
Publikováno v:
Human mutation. 34(10)
The extreme phenotypic variability of patients with Gaucher disease (GD) is not completely explained by glucocerebrosidase gene mutations. It has been proposed that genetic modifiers might influence GD phenotype. We examined seven polymorphisms of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4269d141fcfe79514f8d09a04d9f03
https://pubmed.ncbi.nlm.nih.gov/23913449
https://pubmed.ncbi.nlm.nih.gov/23913449
Autor:
Vanesa Andreu, Francisca Sánchez-Jiménez, Carmen Ortiz-Mellet, Javier Gervas, Pilar Giraldo, Miguel Pocovi, Joaquin Navascues, Jose Manuel Garcia-Fernandez, Pilar Alfonso
Publikováno v:
Blood. 120:3270-3270
Abstract 3270 Introduction: Many of the mutations of the lysosomal acid b-glucosidase (b-glucocerebrosidase) associated with Gaucher disease (GD) translate into enzymes that retain partial catalytic activity in vitro but exhibit impaired cellular tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b3eabeb53579fc8f02c379a118904fb
https://doi.org/10.1182/blood.v120.21.3270.3270
https://doi.org/10.1182/blood.v120.21.3270.3270
Autor:
Nuria T Villagrá, José Berciano, Marcos Altable, Joaquı́n Navascués, Iñigo Casafont, Miguel Lafarga, Marı́a T Berciano
Publikováno v:
Neurobiology of Disease, Vol 16, Iss 1, Pp 158-168 (2004)
Acute inflammatory demyelinating polyneuropathy (AIDP) is a type of Guillain–Barré syndrome (GBS) characterized by primary nerve demyelination sometimes with secondary axonal degeneration. Studies on the fine structure of dorsal root ganglia in AI
Externí odkaz:
https://doaj.org/article/dac1c8243c8f4f14bf7330386eb0defc