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Articles, 18 registres trobats
Documents de recerca, 2 registres trobats
Articles 18 registres trobats  1 - 10següent  anar al registre:
1.
19 p, 4.3 MB Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1 / Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Arbex, Andrea (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Chojnacki, Jakub (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Vázquez-Manrique, Rafael P. (Instituto de Salud Carlos III) ; Gómez-Escribano, Ana Pilar (Instituto de Salud Carlos III) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Suelves Esteban, Mònica (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
Myotonic Dystrophy type 1 (DM1) is a muscular dystrophy with a multi-systemic nature. It was one of the first diseases in which repeat associated non-ATG (RAN) translation was described in 2011, but has not been further explored since. [...]
2021 - 10.3390/jcm10235520
Journal of clinical medicine, Vol. 10 (november 2021)  
2.
18 p, 2.3 MB Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up / Carnicer-Cáceres, Clara (Hospital Universitari Vall d'Hebron) ; Arranz-Amo, Jose Antonio (Hospital Universitari Vall d'Hebron) ; Cea-Arestin, Cristina (Hospital Universitari Vall d'Hebron) ; Camprodon-Gomez, Maria (Hospital Universitari Vall d'Hebron) ; Moreno-Martinez, David (Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London WC1E 6BT, UK) ; Lucas-Del-Pozo, Sara (UCL Institute of Neurology (Regne Unit)) ; Moltó Abad, Marc (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ; Tigri-Santiña, Ariadna (Hospital Universitari Vall d'Hebron) ; Agraz Pamplona, Irene (Hospital Universitari Vall d'Hebron) ; Rodriguez-Palomares, Jose F.. (Hospital Universitari Vall d'Hebron) ; Hernández-Vara, Jorge (Hospital Universitari Vall d'Hebron) ; Armengol-Bellapart, Mar (Hospital Universitari Vall d'Hebron) ; Del Toro, Mireia (Hospital Universitari Vall d'Hebron) ; Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Fabry disease (FD) is a lysosomal storage disorder caused by deficient alpha-galactosidase A activity in the lysosome due to mutations in the GLA gene, resulting in gradual accumulation of globotriaosylceramide and other derivatives in different tissues. [...]
2021 - 10.3390/jcm10081664
Journal of clinical medicine, Vol. 10 (april 2021)  
3.
14 p, 1.2 MB Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders / Seras-Franzoso, Joaquin (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ; Díaz Riascos, Zamira Vanessa (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Corchero Nieto, José Luis (Universitat Autònoma de Barcelona) ; González, Patricia (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ; García Aranda, Natalia (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Mandaña, Mònica (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Riera, Roger (Institut de Bioenginyeria de Catalunya) ; Boullosa, Ana (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Mancilla, Sandra (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Grayston, Alba (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Moltó-Abad, Marc (Hospital Universitari Vall d'Hebron) ; Garcia-Fruitos, Elena (Universitat Autònoma de Barcelona) ; Mendoza, Rosa (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron) ; Albertazzi, Lorenzo (Institut de Bioenginyeria de Catalunya) ; Rosell Novel, Anna (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Casas, Josefina (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Villaverde Corrales, Antonio (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Schwartz, Simó (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ; Abasolo, Ibane (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
In the present study the use of extracellular vesicles (EVs) as vehicles for therapeutic enzymes in lysosomal storage disorders was explored. EVs were isolated from mammalian cells overexpressing alpha-galactosidase A (GLA) or N-sulfoglucosamine sulfohydrolase (SGSH) enzymes, defective in Fabry and Sanfilippo A diseases, respectively. [...]
2021 - 10.1002/jev2.12058
Journal of extracellular vesicles, Vol. 10 (march 2021)  
4.
9 p, 279.8 KB Genotypic and phenotypic features of all Spanish patients with McArdle disease : a 2016 update / Santalla, Alfredo (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Encinar, Alberto Blázquez (Hospital Universitario 12 de Octubre (Madrid)) ; Vieitez, Irene (Hospitalario Universitario de Vigo) ; González-Quintana, Adrian (Instituto de Salud Carlos III) ; Serrano-Lorenzo, Pablo (Instituto de Salud Carlos III) ; Consuegra-García, Inés (Hospital Universitario 12 de Octubre (Madrid)) ; Asensio, Sara (Instituto de Salud Carlos III) ; Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pareja-Galeano, Helios (Universidad Europea de Madrid) ; Díez-Bermejo, Jorge (Universidad Europea de Madrid) ; Pérez Ruiz, Margarita (Universidad Europea de Madrid) ; Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Arenas, Joaquín (Instituto de Salud Carlos III) ; Martín, Miguel A. (Hospital Universitario 12 de Octubre (Madrid)) ; Lucia, Alejandro (Universidad Europea de Madrid)
We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). [...]
2017 - 10.1186/s12864-017-4188-2
BMC genomics, Vol. 18 (november 2017)  
5.
8 p, 946.1 KB Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1 / Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Linares-Pardo, Ian (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Arbex, Andrea (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Puente-Alonso, Carles (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Monckton, Darren G. (Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK) ; Cumming, Sarah A. (Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, UK) ; Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron) ; Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona. Departament de Medicina
Myotonic Dystrophy type 1 (DM1) is characterized by a high genetic and clinical variability. Determination of the genetic variability in DM1 might help to determine whether there is an association between CTG (Cytosine-Thymine-Guanine) expansion and the clinical manifestations of this condition. [...]
2020 - 10.3390/genes11111321
Genes, Vol. 11 (november 2020)  
6.
9 p, 816.6 KB The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1 / Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Linares-Pardo, Ian (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron) ; Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Arbex, Andrea (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Magaña, Jonathan J. (National Rehabilitation Institute (Mèxic)) ; Murillo-Melo, Nadia M. (National Rehabilitation Institute (Mèxic)) ; Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Monckton, Darren G. (University of Glasgow) ; Cumming, Sarah A. (University of Glasgow) ; Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
The number of cytosine-thymine-guanine (CTG) repeats ('CTG expansion size') in the 3'untranslated region (UTR) region of the dystrophia myotonica -protein kinase (DMPK) gene is a hallmark of myotonic dystrophy type 1 (DM1), which has been related to age of disease onset and clinical severity. [...]
2020 - 10.3390/genes11070757
Genes, Vol. 11 (july 2020)  
7.
10 p, 2.0 MB Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age / Parini, Rossella (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Hennermann, Julia B. (University Medical Center) ; Hsu, Ting-Rong (Taipei Veterans General Hospital) ; Karabul, Nesrin (University Children's Hospital and Centre for Rare Diseases) ; Kalampoki, Vasiliki (Shire (Suïssa)) ; Gurevich, Andrey (Shire (Suïssa)) ; Ramaswami, Uma (Royal Free London NHS Foundation Trust) ; Universitat Autònoma de Barcelona
To determine the impact of initiating enzyme replacement therapy (ERT) with agalsidase alfa early in the course of Fabry disease, we evaluated renal and cardiac outcomes for ≤10 years after ERT initiation in males from the Fabry Outcome Survey (FOS). [...]
2020 - 10.2147/DDDT.S249433
Drug Design, Development and Therapy, Vol. 14 (june 2020) , p. 2149-2158  
8.
9 p, 439.8 KB Three-dimensional imaging in myotonic dystrophy type 1 / Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Núñez-Manchón, Judit (Institut Germans Trias i Pujol) ; Koehorst, Emma (Institut Germans Trias i Pujol) ; Linares-Pardo, Ian (Institut Germans Trias i Pujol) ; Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Guanyabens i Giral, Nicolau (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lopez-Osias, Marta (Institut Germans Trias i Pujol) ; Suárez-Mesa, Adrián (Institut Germans Trias i Pujol) ; Hanick, Shaliza Ann (Institut Germans Trias i Pujol) ; Chojnacki, Jakub (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol) ; Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Nogales, Gisela (Institut Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
We aimed to determine whether 3D imaging reconstruction allows identifying molecular:clinical associations in myotonic dystrophy type 1 (DM1). We obtained myoblasts from 6 patients with DM1 and 6 controls. [...]
2020 - 10.1212/NXG.0000000000000484
Neurology: Genetics, Vol. 6 (july 2020)  
9.
5 p, 250.5 KB Elosulfase alfa for mucopolysaccharidosis type IVA : Real-world experience in 7 patients from the Spanish Morquio-A early access program / Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Blasco Alonso, Javier (Hospital Regional Universitario de Málaga) ; Couce, Maria Luz (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; González Gutiérrez-Solana, Luis (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Guillén-Navarro, Encarnación (IMIB - Arrixaca, Murcia) ; O'Callaghan, Maria del Mar (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Del Toro, Mireia (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. [...]
2018 - 10.1016/j.ymgmr.2018.03.009
Molecular Genetics and Metabolism Reports, Vol. 15 (april 2018) , p. 116-120  
10.
11 p, 6.0 MB Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy : A 10-year fabry outcome survey (FOS) analysis / Ramaswami, Uma (Royal Free London NHS Foundation Trust. Lysosomal Disorders Unit. Institute of Immunity and Transplantation) ; Beck, Michael (Centre for Paediatric and Adolescent Medicine. University Medical Centre. University of Mainz) ; Hughes, D. (Royal Free London NHS Foundation Trust. Lysosomal Disorders Unit. Institute of Immunity and Transplantation) ; Kampmann, C. (Centre for Paediatric and Adolescent Medicine. University Medical Centre. University of Mainz) ; Botha, J. (Department of Biostatistics and Programming. Takeda) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; West, M. L. (Department of Medicine. Dalhousie University) ; Niu, D. M. (Department of Paediatrics. Taipei Veterans General Hospital) ; Nicholls, K. (Royal Melbourne Hospital (Melbourne, Austràlia)) ; Giugliani, R. (Medical Genetics Service HCPA. Department of Genetics. UFRGS. INAGEMP) ; Universitat Autònoma de Barcelona
Purpose: Following the publication of 5-year agalsidase alfa enzyme replacement therapy (ERT) outcomes data from the Fabry Outcome Survey (FOS), 10-year data were analyzed. Patients and methods: FOS (ClinicalTrials. [...]
2019 - 10.2147/DDDT.S207856
Drug Design, Development and Therapy, Vol. 13 (2019) , p. 3705-3715  

Articles : 18 registres trobats   1 - 10següent  anar al registre:
Documents de recerca 2 registres trobats  
1.
190 p, 1.1 MB Mitochondrial disorders in childhood : from general characteristics to new aspects / García-Cazorla, Angels ; Pintos-Morell, Guillem, dir. (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública)
Las enfermedades mitocondriales pueden ser englobadas dentro de las enfermedades raras de la edad pediátrica. Esta tesis recoge aspectos clínicos, bioquímicos y genéticos de 241 pacientes con enfermedades mitocondriales diagnosticados en el hospital «Necker-Enfants Malades, Paris», en el período comprendido entre los años 1977 al 2002. [...]
Mitochondrial disorders are rare causes of disease in childhood. This thesis reports clinical, biochemical and genetic aspects of 241 paediatric patients with mitochondrial disorders diagnosed in the «Hôpital Necker-Enfants Malades, Paris» from 1977 to 2002. [...]

Bellaterra : Universitat Autònoma de Barcelona, 2007  
2.
111 p, 1.9 MB El Sistema TNF-[alfa] i els seus receptors : implicació en la infecció perinatal i en el desencadenament del part / Sàrries i Gené, Carme ; Pintos-Morell, Guillem, dir. (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública)
Aquest treball aprofundeix en el coneixement de les funcions que el sistema TNF-TNFR desenvolupa en la unitat materno-fetal en el part normal i en el part amb risc o signes d'infecció. D'una banda s'analitzen els perfils d'expressió dels receptors del TNF-a p55 i p75 presents en els diferents compartiments de la unitat materno-fetal i de l'altre es determina la concentració plasmàtica del TNF-a i també dels dos receptors en nounats amb signes d'infecció, analitzant si la determinació d'aquestes citocines pot ser utilitzada com a marcador de la sèpsia neonatal precoç i factor pronòstic de l'evolució clínica. [...]
The aim of this study was to analyze the role of the TNF-TNFR system in the materno-fetal unit during both, the normal labor and the labor with risk or signs of infection. The first objective was to analyze TNFR-p55 and p75 expression profiles in the different materno-fetal compartments. [...]

Bellaterra : Universitat Autònoma de Barcelona, 2004
2 documents

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1 Pintos, Guillem
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