Zobrazeno 1 - 10 of 29 pro vyhledávání: '"Ortez-Gonzalez CI"'
1
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases
Autor: Pijuan J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent-Huguet A, Díaz-Osorio Y, Carrera-García L, Expósito-Escudero J, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J, Palau F
Publikováno v: FRONTIERS IN NEUROSCIENCE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Mitochondrial network is constantly in a dynamic and regulated balance of fusion and fission processes, which is known as mitochondrial dynamics. Mitochondria make physical contacts with almost every other membrane in the cell thus impacting cellular
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::bdaa50c325153c7e1b40089d64e02593
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20827
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2
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts
Autor: López-Márquez A, Morín M, Fernández-Peñalver S, Badosa-Gallego MC, Hernández-Delgado A, Natera-de Benito D, Ortez-Gonzalez CI, Nascimento-Osorio A, Grinberg-Vaisman DR, Balcells S, Roldán M, Moreno-Pelayo MÁ, Jimenez-Mallebrera C
Publikováno v: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Collagen VI-related disorders are the second most common congenital muscular dystrophies for which no treatments are presently available. They are mostly caused by dominant-negative pathogenic variants in the genes encoding alpha chains of collagen V
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::d0fbf29e60080615cda513c205c93bf8
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21426
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3
Sleep breathing disorders in pediatric patients with spinal muscular atrophy 2
Autor: Bertrán K, Sans-Capdevila O, ANDRES EDUARDO NASCIMIENTO OSORIO, Ortez-Gonzalez CI, Natera-de Benito D, Iranzo de Riquer A
Publikováno v: SLEEP MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Objectives: The study is aimed to analyze both sleep architecture and prevalence of sleep-disordered breathing (SDB), in a group of patients with type 2 spinal muscular atrophy (SMA), considering motor dysfunction, and compare them with age-matched c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::167611a2b20caee73b33a9b262c6cc4e
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20412
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5
Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen
Autor: Carrera-García L, Muchart-Lopez J, Lazaro JJ, Expósito-Escudero J, Cuadras-Palleja D, Medina J, Bosch de Basea M, Colomer J, Jimenez-Mallebrera C, Ortez-Gonzalez CI, Natera-de Benito D, Nascimento-Osorio A
Publikováno v: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The approval of nusinersen for the treatment of spinal muscular atrophy (SMA) has significantly changed the natural history of the disease. Nevertheless, scoliosis secondary to axial muscle weakness occurs at some point in most of patients with SMA a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5bb491bdc38e0b29f62fa4ea7349d3fe
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19266
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6
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
Autor: Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM, Serrano M
Publikováno v: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The CACNA1A gene encodes the pore-forming a(1A) subunit of the voltage-gated Ca(V)2.1 Ca(2+) channel, essential in neurotransmission, especially in Purkinje cells. Mutations in CACNA1A result in great clinical heterogeneity with progressive symptoms,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8c5ddb056bae8efd0c5e2056ab95d27b
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19670
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7
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases
Autor: Yubero-Siles D, Natera-de Benito D, Pijuan J, Armstrong-Moron J, Martorell-Sampol L, Fernàndez G, Joan Maynou Fernández, Jou-Munoz C, Roldan M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J, Palau F
Publikováno v: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The diagnosis of neuromuscular diseases (NMDs) has been progressively evolving from the grouping of clinical symptoms and signs towards the molecular definition. Optimal clinical, biochemical, electrophysiological, electrophysiological, and histopath
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::3c91137b738a4518ce9b19b066a13f79
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19453
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10
Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases
Autor: Pijuan J, Rodríguez-Sanz M, Natera-de Benito D, Ortez-Gonzalez CI, Altimir A, Osuna-Lopez M, Roura-Llerda M, Ugalde M, Van de Vondel L, Reina-Castillon J, Fons-Estupina C, Benítez R, Nascimento-Osorio A, Hoenicka J, Palau F
Publikováno v: JOURNAL OF MOLECULAR DIAGNOSTICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Diagnosis is essential for the management and treatment of patients with rare diseases. In a group of patients, the genetic study identifies variants of uncertain significance or inconsistent with the phenotype; therefore, it is urgent to develop nov
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::489b9038d112db2f1a9a3439a5d99060
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18451
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