Resultats globals: 13 registres trobats en 0.02 segons.
Articles, 7 registres trobats
Documents de recerca, 6 registres trobats
Articles 7 registres trobats  
1.
13 p, 1.2 MB Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2 / Blasco-Pérez, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Costa-Roger, Mar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Leno Colorado, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Bernal, Sara (Institut d'Investigació Biomèdica Sant Pau) ; Alías, Laura (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Codina Solà, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martínez-Cruz, Desirée (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Castiglioni, Claudia (Departamento de Neurología Pediátrica. Clínica Las Condes) ; Bertini, Enrico (Unit of Neuromuscular and Neurodegenerative Disease. Ospedale Pediatrico Bambino Gesu. IRCCS) ; Travaglini, Lorena (Unit of Neuromuscular and Neurodegenerative Disease. Ospedale Pediatrico Bambino Gesu. IRCCS) ; Millán, José (Instituto de Investigación Sanitaria La Fe) ; Aller, Elena (Instituto de Investigación Sanitaria La Fe) ; Sotoca Fernández, Javier (Hospital Universitari Vall d'Hebron) ; Juntas, Raúl (Hospital Universitari Vall d'Hebron) ; Hoei-Hansen, Christina Engel (University of Copenhagen. Department of Clinical Medicine) ; Moreno-Escribano, Antonio (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Guillén-Navarro, E. (Clínico Universitario Virgen de la Arrixaca. IMIB-Arrixaca. Universidad de Murcia) ; Costa-Comellas, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Boronat, Susanna (Institut d'Investigació Biomèdica Sant Pau) ; Rojas-García, Ricardo (Institut d'Investigació Biomèdica Sant Pau) ; Povedano, Mónica (Unidad Funcional de Enfermedad de Motoneurona. Servicio de Neurología. Hospital Universitario de Bellvitge) ; Cusco, Ivon (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Tizzano, Eduardo F. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the SMN1 gene. Copy number and modifier intragenic variants in SMN2, an almost identical paralog gene of SMN1, are known to influence the amount of complete SMN proteins. [...]
2022 - 10.3390/ijms23158289
International journal of molecular sciences, Vol. 23 Núm. 15 (august 2022) , p. 8289  
2.
9 p, 2.5 MB Collaborative model for diagnosis and treatment of very rare diseases : experience in Spain with thymidine kinase 2 deficiency / Domínguez-González, C (Instituto de Salud Carlos III) ; Madruga-Garrido, Marcos (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Hirano, Michio (Columbia University Medical Center) ; Martí, Itxaso (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Martín, Miguel A. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron) ; Nascimento, Andrés (Institut de Recerca Sant Joan de Déu) ; Olive, Montse (Institut d'Investigació Biomèdica Sant Pau) ; Quan, Joanne (Zogenix. Inc.) ; Sardina, Maria Dolores (Complejo Hospitalario Universitario de Badajoz) ; Martí, Ramon A (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Paradas, Carmen (Instituto de Salud Carlos III) ; Universitat Autònoma de Barcelona
Background: Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondrial disease typically experience delays in diagnosis and treatment. [...]
2021 - 10.1186/s13023-021-02030-w
Orphanet Journal of Rare Diseases, Vol. 16 Núm. 1 (december 2021) , p. 407  
3.
12 p, 11.3 MB Diabetes Protects from Prostate Cancer by Downregulating Androgen Receptor : New Insights from LNCaP Cells and PAC120 Mouse Model / Barbosa-Desongles, Anna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Hernández, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; de Torres, Inés (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Poupon, Marie-France (Institut Curie) ; Simó Canonge, Rafael (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martínez Selva, David (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Type 2 diabetes has been associated with decreased risk of prostate cancer in observational studies, and this inverse association has been recently confirmed in several large cohort studies. However the mechanisms involved in this protective effect remain to be elucidated. [...]
2013 - 10.1371/journal.pone.0074179
PloS one, Vol. 8 (september 2013)  
4.
16 p, 3.4 MB AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders / Salpietro, Vincenzo (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Dixon, Christine L. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Guo, Hui (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Bello, Oscar D. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Vandrovcova, Jana (UCL Queen Square Institute of Neurology (Regne Unit)) ; Efthymiou, Stephanie (University College London) ; Maroofian, Reza (UCL Queen Square Institute of Neurology (Regne Unit)) ; Heimer, Gali (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Burglen, Lydie (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Département de Génétique et Embryologie Médicale. APHP. Hôpital Trousseau) ; Valence, Stephanie (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Service de Neurologie Pédiatrique. APHP. Hôpital Trousseau) ; Torti, Erin (GeneDx) ; Hacke, Moritz (Biochemistry Center. Heidelberg University) ; Rankin, Julia (Royal Devon and Exeter NHS Foundation Trust) ; Tariq, Huma (UCL Queen Square Institute of Neurology (Regne Unit)) ; Colin, Estelle (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Procaccio, Vincent (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Striano, Pasquale (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Mankad, Kshitij (Great Ormond Street Hospital for Children (Londres)) ; Lieb, Andreas (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Chen, Sharon (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ; Pisani, Laura (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ; Bettencourt, Conceição (UCL Institute of Neurology (Regne Unit)) ; Männikkö, Roope (UCL Queen Square Institute of Neurology (Regne Unit)) ; Manole, Andreea (UCL Queen Square Institute of Neurology (Regne Unit)) ; Brusco, Alfredo (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ; Grosso, Enrico (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ; Ferrero, Giovanni Battista (Department of Public Health and Pediatrics. University of Torino) ; Armstrong, Judith (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Gueden, Sophie (Unit of Neuropediatrics. University Hospital) ; Bar-Yosef, Omer (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Tzadok, Michal (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Monaghan, Kristin G. (GeneDx) ; Santiago-Sim, Teresa (GeneDx) ; Person, Richard E. (GeneDx) ; Cho, Megan T. (GeneDx) ; Willaert, Rebecca (GeneDx) ; Yoo, Kristin (Department of Biomedical Sciences. Seoul National University) ; Chae, Jong-Hee (Department of Pediatrics. Seoul National University) ; Quan, Yingting (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Wu, Huidan (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Wang, Tianyun (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Bernier, Raphael A. (Department of Psychiatry. University of Washington) ; Xia, Kun (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Blesson, Alyssa (Center for Autism and Related Disorders. Kennedy Krieger Institute) ; Jain, Mahim (Center for Autism and Related Disorders. Kennedy Krieger Institute) ; Motazacker, Mohammad M. (Department of Clinical Genetics. University of Amsterdam) ; Jaeger, Bregje (Department of Pediatric Neurology. Amsterdam UMC) ; Schneider, Amy L. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Boysen, Katja (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Muir, Alison M. (Department of Pediatrics. University of Washington) ; Myers, Candance T. (Department of Pediatrics. Division of Genetic Medicine. University of Washington) ; Gavrilova, Ralitza H. (Department of Clinical Genomics. Mayo Clinic) ; Gunderson, Lauren (Department of Clinical Genomics. Mayo Clinic) ; Schultz-Rogers, Laura (Department of Clinical Genomics. Mayo Clinic) ; Klee, Eric W. (Department of Clinical Genomics. Mayo Clinic) ; Dyment, David (Children's Hospital of Eastern Ontario Research Institute. University of Ottawa) ; Osmond, Matthew (Genome Québec Innovation Center) ; Parellada, Mara (Hospital General Universitario Gregorio Marañón) ; Llorente, Cloe (Hospital General Universitario Gregorio Marañón) ; González-Peñas, Javier (Hospital General Universitario Gregorio Marañón) ; Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica) ; Van Haeringen, Arie (Department of Clinical Genetics. Leiden University Medical Center) ; Ruivenkamp, Claudia (Department of Clinical Genetics. Leiden University Medical Center) ; Nava, Caroline (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Heron, Delphine (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Nardello, Rosaria (Department of Health Promotion,Mother and Child Care. Internal Medicine and Medical Specialities "G. D'Alessandro". University of Palermo) ; Iacomino, Michele (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Minetti, Carlo (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Skabar, Aldo (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ; Fabretto, Antonella (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ; Hanna, Michael (UCL Queen Square Institute of Neurology (Regne Unit)) ; Bugiardini, Enrico (UCL Queen Square Institute of Neurology (Regne Unit)) ; Hostettler, Isabel Charlotte (UCL Queen Square Institute of Neurology (Regne Unit)) ; O'Callaghan, Benjamin (UCL Queen Square Institute of Neurology (Regne Unit)) ; Khan, Alaa (UCL Queen Square Institute of Neurology (Regne Unit)) ; Cortese, Andrea (UCL Queen Square Institute of Neurology (Regne Unit)) ; O'Connor, Emer (UCL Queen Square Institute of Neurology (Regne Unit)) ; Yau, Wai Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Bourinaris, Thomas (UCL Queen Square Institute of Neurology (Regne Unit)) ; Kaiyrzhanov, Rauan (UCL Queen Square Institute of Neurology (Regne Unit)) ; Chelban, Viorica (UCL Queen Square Institute of Neurology (Regne Unit)) ; Madej, Monika (UCL Queen Square Institute of Neurology (Regne Unit)) ; Diana, Maria C. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Vari, Maria S. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Pedemonte, Marina (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Bruno, Claudio (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Balagura, Ganna (University of Genoa. Department of Neurosciences) ; Scala, Marcello (University of Genoa. Department of Neurosciences) ; Fiorillo, Chiara (University of Genoa. Department of Neurosciences) ; Nobili, Lino (University of Genoa. Department of Neurosciences) ; Malintan, Nancy T. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Zanetti, Maria N. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Krishnakumar, Shyam S. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Lignani, Gabriele (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Jepson, James E. C. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Broda, Paolo (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Baldassari, Simona (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Rossi, Pia (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Fruscione, Floriana (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Madia, Francesca (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Traverso, Monica (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; De-Marco, Patrizia (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron) ; Kriouile, Yamna (Children's Hospital of Rabat. University of Rabat) ; El-Khorassani, Mohamed (Children's Hospital of Rabat. University of Rabat) ; Karashova, Blagovesta (Department of Paediatrics. Medical University of Sofia) ; Avdjieva, Daniela (Department of Paediatrics. Medical University of Sofia) ; Kathom, Hadil (Department of Paediatrics. Medical University of Sofia) ; Tincheva, Radka (Department of Paediatrics. Medical University of Sofia) ; Van-Maldergem, Lionel (Centre of Human Genetics. University Hospital Liege) ; Nachbauer, Wolfgang (Department of Neurology. Medical University Innsbruck) ; Boesch, Sylvia (Department of Neurology. Medical University Innsbruck) ; Gagliano, Antonella (Ospedale Pediatrico "A. Cao". Department of Biomedical Sciences. University of Cagliari) ; Amadori, Elisabetta (Child and Adolescent Neuropsychiatry. University of Campania "Luigi Vanvitelli") ; Goraya, Jatinder S. (Division of Paediatric Neurology. Dayanand Medical College & Hospital) ; Sultan, Tipu (Department of Paediatric Neurology. Children's Hospital of Lahore) ; Kirmani, Salman (Department of Medical Genetics. Aga Khan University Hospital. Karachi) ; Ibrahim, Shahnaz (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ; Jan, Farida (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ; Mine, Jun (Department of Pediatrics. Shimane University School of Medicine) ; Banu, Selina (Institute of Child Health and Shishu Shastho Foundation Hospital) ; Veggiotti, Pierangelo (Vittore Buzzi Children's Hospital) ; Zuccotti, Gian V. (Vittore Buzzi Children's Hospital) ; Ferrari, Michel D.. (Leiden University Medical Center) ; Van Den Maagdenberg, Arn M. J. (Leiden University Medical Center) ; Verrotti, Alberto (Paediatric Department. San Salvatore Hospital. University of L'Aquila) ; Marseglia, Gian Luigi (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ; Savasta, Salvatore (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ; Soler, Miguel A. (Computational Modelling of Nanoscale and Biophysical systems Laboratory. Italian Institute of Technology) ; Scuderi, Carmela (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ; Borgione, Eugenia (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ; Chimenz, Roberto (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Gitto, Eloisa (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Dipasquale, Valeria (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Sallemi, Alessia (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Fusco, Monica (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Cuppari, Caterina (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Cutrupi, Maria C. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Ruggieri, Martino (Department of Clinical and Experimental Medicine. Section of Pediatrics and Child Neuropsychiatry. University of Catania) ; Cama, Armando (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ; Capra, Valeria (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ; Mencacci, Niccolò Emanuele (Department of Neurology. Northwestern University Feinberg School of Medicine) ; Boles, Richard (Courtagen Life Sciences) ; Gupta, Neerja (All India Institute of Medical Sciences (Nova Delhi, Índia)) ; Kabra, Madhulika (All India Institute of Medical Sciences (Nova Delhi, Índia)) ; Papacostas, Savvas (The Cyprus Institute of Neurology and Genetics) ; Zamba-Papanicolaou, Eleni (The Cyprus Institute of Neurology and Genetics) ; Dardiotis, Efthimios (General University Hospital of Larissa (Grècia)) ; Maqbool, Shazia (Department of Developmental and Behavioral Pediatrics. Children Hospital Complex and Institute of Child Health) ; Rana, Nuzhat (Department of Pediatric Neurology. Children Hospital Complex and Institute of Child Health) ; Atawneh, Osama (Hilal Pediatric Hospital Hebron. Hebron. West Bank) ; Lim, Shen Y. (Department of Biomedical Science. Faculty of Medicine. University of Malaysia) ; Shaikh, Mohmad Farooq (Jeffrey Cheah School of Medicine and Health Sciences. Monash University Malaysia) ; Koutsis, George (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ; Breza, Marianthi (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ; Coviello, Domenico (Laboratorio di Genetica Umana. IRCCS Istituto Giannina Gaslini) ; Dauvilliers, Yves (University Hospital of Montpellier (França)) ; AlKhawaja, Issam (Albashir University Hospital) ; AlKhawaja, Mariam (Prince Hamzah Hospital. Ministry of Health) ; Al-Mutairi, Fuad (King Saud University) ; Stojkovic, Tanya (Institute of Myology. Hôpital La Pitié Salpêtrière) ; Ferrucci, Veronica (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ; Zollo, Massimo (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ; Alkuraya, Fowzan S (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ; Kinali, Maria (The Portland Hospital) ; Sherifa, Hamed (Assiut University Hospital) ; Benrhouma, Hanene (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ; Turki, Ilhem B. Y. (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ; Tazir, Meriem (Laboratoire de Recherche en Neurosciences. Service de Neurologie) ; Obeid, Makram (Department of Anatomy. Cell Biology and Physiology. American University of Beirut Medical Center) ; Bakhtadze, Sophia (Department of Child Neurology. Tbilisi State Medical University) ; Saadi, Marianthi W. (Baghdad College of Medicine. Children Welfare Teaching Hospital) ; Zaki, Maha (Human Genetics and Genome Research Division. National Research Centre) ; Triki, Chahnez C. (Child Neurology Department. Hedi Chaker hospital- Sfax Tunisia) ; Benfenati, Fabio (Istituto Italiano di Tecnologia) ; Gustincich, Stefano (Istituto Italiano di Tecnologia) ; Kara, Majdi (Paediatric Neurology Unit. Department of Pediatrics. University of Tripoli) ; Belcastro, Vincenzo (Neurology Unit. S. Anna Hospital) ; Specchio, Nicola (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ; Capovilla, Giuseppe (Child Neuropsychiatry Department. Epilepsy Center. C. Poma Hospital) ; Karimiani, Ehsan G. (Genetics Research Centre. Molecular and Clinical Sciences Institute. St George's. University of London. Cranmer Terrace) ; Salih, Ahmed M. (Medical University of Duhok) ; Okubadejo, Njideka (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Ojo, Oluwadamilola (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Oshinaike, Olajumoke O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Oguntunde, Olapeju (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Wahab, Kolawole Wasiu (University of Ilorin Teaching Hospital (UITH)) ; Bello, Abiodun H. (University of Ilorin Teaching Hospital (UITH)) ; Abubakar, Sanni (Ahmadu Bello University) ; Obiabo, Yahaya (Delta State University Teaching Hospital) ; Nwazor, Ernest (Federal Medical Centre) ; Ekenze, Oluchi (University of Nigeria Teaching Hospital) ; Williams, Uduak (University of Calabar Teaching Hospital) ; Iyagba, Alagoma (University of Port Harcourt Teaching Hospital) ; Taiwo, Lolade (Babcock University. Ilishan. Remo & Federal Medical Centre) ; Komolafe, Morenikeji (Obafemi Awolowo University Teaching Hospital (OAUTH)) ; Senkevich, Konstantin (Pavlov First Saint Petersburg State Medical University) ; Shashkin, Chingiz (Kazakh National State University) ; Zharkynbekova, Nazira (Shymkent Medical Academy) ; Koneyev, Kairgali (Kazakh National State University) ; Manizha, Ganieva (Avicenna Tajik State Medical University) ; Isrofilov, Maksud (Avicenna Tajik State Medical University) ; Guliyeva, Ulviyya (Mediclub clinic) ; Salayev, Kamran (Azerbaijan State Medical University) ; Khachatryan, Samson G. ("Somnus" Neurology Clinic Sleep and Movement Disorders Center) ; Rossi, Salvatore (Department of Neurology. Università Cattolica del Sacro Cuore) ; Silvestri, Gabriella (Department of Neurology. Università Cattolica del Sacro Cuore) ; Haridy, Nourelhoda A. (Department of Neurology and Psychiatry. Assuit University Hospital) ; Ramenghi, Luca A. (Neonatal Intensive Care Unit. Istituto Giannina Gaslini) ; Xiromerisiou, Georgia (Department of Neurology. Medical School. University of Thessaly) ; David, Emanuele (Radiology Unit. Papardo Hospital. Viale Ferdinando Stagno d'Alcontres. Contrada Papardo) ; Aguennouz, M'hammed (Unit of Neurology and Neuromuscular Diseases. Department of Clinical and Experimental Medicine. University of Messina) ; Fidani, Lliana (Department of Biology. Medical School. Aristotle University) ; Spanaki, Cleanthe (Department of Neurology. Medical School. University of Crete) ; Tucci, Arianna (William Harvey Research Institute. The NIHR Biomedical Research Centre at Barts. Queen Mary University London) ; Raspall-Chaure, Miquel (Hospital Universitari Vall d'Hebron) ; Chez, Michael (Neuroscience Medical Group. 1625 Stockton Boulevard. Suite 104) ; Tsai, Anne (Department of Genetics and Inherited Metabolic diseases. Children's Hospital Colorado) ; Fassi, Emily (Department of Pediatrics. Washington University School of Medicine) ; Shinawi, Marwan (Department of Pediatrics. Washington University School of Medicine) ; Constantino, John N. (William Greenleaf Eliot Division of Child & Adolescent Psychiatry. Department of Psychiatry. Washington University School of Medicine) ; De Zorzi, Rita (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ; Fortuna, Sara (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ; Kok, Fernando (Mendelics Genomic Analysis) ; Keren, Boris (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Bonneau, Dominique (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Choi, Murim (Department of Biomedical Sciences. Seoul National University) ; Benzeev, Bruria (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Zara, Federico (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Mefford, Heather C. (Department of Pediatrics. University of Washington) ; Scheffer, Ingrid E. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Clayton-Smith, Jill (Division of Evolution and Genomic Sciences. School of Biological Sciences. University of Manchester) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ; Rothman, James E. (Department of Cell Biology. Yale University School of Medicine) ; Eichler, Evan E (Howard Hughes Medical Institute. University of Washington) ; Kullmann, Dimitri M. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Houlden, Henry (UCL Queen Square Institute of Neurology (Regne Unit)) ; Universitat Autònoma de Barcelona
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca-impermeable, with a linear relationship between current and trans-membrane voltage. [...]
2019 - 10.1038/s41467-019-10910-w
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 3094  
5.
14 p, 2.3 MB eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics / Bosio, Mattia (Barcelona Supercomputing Center) ; Drechsel, Oliver (Robert Koch Institute) ; Rahman, Rubayte (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ; Muyas, Francesc (Universitat Pompeu Fabra) ; Rabionet, Raquel (Institut de Recerca Sant Joan de Déu) ; Bezdan, Daniela (Universitat Pompeu Fabra) ; Domenech Salgado, Laura (Universitat Pompeu Fabra) ; Hor, Hyun (University Hospital Zurich (Suïssa)) ; Schott, Jean-Jacques (Service de Cardiologie. L'institut du thorax. CHU Nantes) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Estivill, Xavier (Women's Health Dexeus) ; Ossowski, Stephan (Institute of Medical Genetics and Applied Genomics. University of Tübingen) ; Universitat Autònoma de Barcelona
Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes and for elucidating the function of genes. Whole-exome sequencing (WES) accelerated the study of rare Mendelian diseases in families, allowing for directly pinpointing rare causal mutations in genic regions without the need for linkage analysis. [...]
2019 - 10.1002/humu.23772
Human mutation, Vol. 40 Núm. 7 (july 2019) , p. 865-878  
6.
9 p, 359.6 KB The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations / Rodríguez Cruz, Pedro M. (John Radcliffe Hospital (Oxford, Regne Unit)) ; Cossins, Judith (Neurosciences Group. Nuffield Department of Clinical Neurosciences. Weatherall Institute of Molecular Medicine. University of Oxford) ; De Paula Estephan, Eduardo (Departamento de Neurologia. Faculdade de Medicina. Universidade de São Paulo (FMUSP)) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Selby, KKathryn (University of British Columbia) ; Hirano, Michio (Department of Neurology. H. Houston Merritt Neuromuscular Research Center. Columbia University Medical Center) ; Maroofin, Reza (Molecular and Clinical Sciences Institute. St. George's. University of London) ; Mehrjardi, Mohammad Yahya Vahid (Medical Genetics Research Centre. Shahid Sadoughi University of Medical Sciences) ; Chow, Gabriel (Nottingham University Hospitals NHS Trust (Regne Unit)) ; Carr, Aislin (MRC Centre for Neuromuscular Diseases. National Hospital for Neurology and Neurosurgery) ; Manzur, Adnan (Dubowitz Neuromuscular Centre. MRC Centre for Neuromuscular Diseases. UCL Great Ormond Street Institute of Child Health) ; Robb, Stephanie (Dubowitz Neuromuscular Centre. MRC Centre for Neuromuscular Diseases. UCL Great Ormond Street Institute of Child Health) ; Munot, Pinki (Dubowitz Neuromuscular Centre. MRC Centre for Neuromuscular Diseases. UCL Great Ormond Street Institute of Child Health) ; Wei Liu, Wei (Neurosciences Group. Nuffield Department of Clinical Neurosciences. Weatherall Institute of Molecular Medicine. University of Oxford) ; Banka, Siddharth (Manchester Centre for Genomic Medicine. St Mary's Hospital. Manchester University NHS Foundation Trust. Health Innovation Manchester) ; Fraser, Harry (Manchester Centre for Genomic Medicine. St Mary's Hospital. Manchester University NHS Foundation Trust. Health Innovation Manchester) ; De Goede, Christian (Department of Paediatric Neurology. Royal Preston Hospital) ; Zanoteli, Edmar (Departamento de Neurologia. Faculdade de Medicina. Universidade de São Paulo (FMUSP)) ; Conti Reed, Umbertina (Departamento de Neurologia. Faculdade de Medicina. Universidade de São Paulo (FMUSP)) ; Sage, Abigail (Department of Neurology. H. Houston Merritt Neuromuscular Research Center. Columbia University Medical Center) ; Gratacòs-Viñola, Margarida (Hospital Universitari Vall d'Hebron) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Dusl, Marina (Friedrich-Baur-Institute. Department of Neurology. University Hospital LMU Munich) ; Senderek, Jan (Friedrich-Baur-Institute. Department of Neurology. University Hospital LMU Munich) ; Töpf, Ana (Institute of Genetic Medicine) ; Hofer, Monika (John Radcliffe Hospital (Oxford, Regne Unit)) ; Knight, Ravi (John Radcliffe Hospital (Oxford, Regne Unit)) ; Ramdas, Sithara (Department of Paediatric Neurology. John Radcliffe Hospital NHS Foundation Trust) ; Jayawant, Sandeep (Department of Paediatric Neurology. John Radcliffe Hospital NHS Foundation Trust) ; Lochmüller, Hans (Division of Neurology. Department of Medicine. Ottawa Hospital) ; Palace, Jacqueline (John Radcliffe Hospital (Oxford, Regne Unit)) ; Beeson, David (Neurosciences Group. Nuffield Department of Clinical Neurosciences. Weatherall Institute of Molecular Medicine. University of Oxford) ; Universitat Autònoma de Barcelona
Next generation sequencing techniques were recently used to show mutations in COL13A1 cause synaptic basal lamina-associated congenital myasthenic syndrome type 19. Animal studies showed COL13A1, a synaptic extracellular-matrix protein, is involved in the formation and maintenance of the neuromuscular synapse that appears independent of the Agrin-LRP4-MuSK-DOK7 acetylcholine receptor clustering pathway. [...]
2019 - 10.1093/brain/awz107
Brain, Vol. 142 Núm. 6 (january 2019) , p. 1547-1560  
7.
21 p, 6.7 MB Identification and characterization of new isoforms of human fas apoptotic inhibitory molecule (FAIM) / Coccia, Elena (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Calleja Yagüe, Isabel (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Planells Ferrer, Laura (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Sanuy, Blanca (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Sanz, Belen (Centro Nacional de Investigaciones Oncológicas) ; López-Soriano, Joaquín (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Moubarak, Rana S. (Department of Pathology. NYU Langone Medical Center) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Barneda Zahonero, Bruna (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Comella i Carnicé, Joan Xavier 1963- (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Pérez-García, M. Jose (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
Fas Apoptosis Inhibitory Molecule (FAIM) is an evolutionarily highly conserved death receptor antagonist, widely expressed and known to participate in physiological and pathological processes. Two FAIM transcript variants have been characterized to date, namely FAIM short (FAIM-S) and FAIM long (FAIM-L). [...]
2017 - 10.1371/journal.pone.0185327
PloS one, Vol. 12 Núm. 10 (october 2017) , p. e0185327  

Documents de recerca 6 registres trobats  
1.
98 p, 3.7 MB Desenvolupament de noves estratègies terapèutiques per les distròfies musculars / Romero Duque, Penélope ; Barquinero, Jordi, dir. ; Munell Casadesus, Francina, dir. ; Aguilera, José, dir.
La Distròfia Muscular de Duchenne és una malaltia devastadors y progressiva que actualment no disposa de cap tractament curatiu i només es poden oferir teràpies pal·liatives. En els últims anys s'han desenvolupat noves teràpies destinades a restablir l'expressió de la Distrofina, entre elles les dirigides a corregir les mutacions sense sentit amb fàrmacs amb activitat read through com son PTC124 (ataluren) i RTC3 i RTC14. [...]
La Distrofia Muscular de Duchenne es una enfermedad devastadora y progresiva que actualmente no dispone de ningún tratamiento curativo y sólo se pueden ofrecer terapias paliativas. En los últimos años se han desarrollado nuevas terapias destinadas a restablecer la expresión de la Distrofina, entre ellas las dirigidas a corregir las mutaciones sin sentido con fármacos con actividad read through como son PTC124 (ataluren) y RTC3 y RTC14. [...]
Duchenne Muscular Dystrophy is a devastating and progressive disease that currently has no curative treatment and only palliative therapies can be offered. In recent years, new therapies have been developed to restore dystrophin expression, including those aimed at correcting nonsense mutations with read-through drugs such as PTC124 (ataluren) and RTC3 and RTC14. [...]

2022  
2.
306 p, 2.9 MB Expressió i funció del receptor d'andrògens i de les seves unitats de transcripció alternatives en el càncer de pròstata i en la diabetis / Barbosa-Desongles, Anna ; Munell Casadesus, Francina, dir. ; Reventós i Puigjaner, Jaume, dir. (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Martinez, David, dir. ; Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular
El càncer de pròstata és el segon tumor més freqüent i la segona causa de mort per malaltia oncològica en els homes del món occidental. Per a créixer, les cèl·lules epitelials del tumor necessiten els andrògens, les accions dels quals són mediades pel receptor d'andrògens, l'AR, un factor de transcripció que pertany a la família dels receptors hormonals esteroïdals. [...]
Prostate cancer is the second most common tumour and the second cause of cancer death in men in western world. To grow, tumour epithelial cells need androgens whose actions are mediated by androgen receptor, a transcription factor that belong to the family of hormonal receptors. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2013  
3.
40 p, 261.5 KB Accions alternatives de la proteïna transportadora d'esteroids sexuals (SHBG/ABP) a l'espermatogènesi i al càncer de pròstata / Martínez Selva, David ; Munell Casadesus, Francina, dir. ; Reventós i Puigjaner, Jaume, dir. (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
La finalitat d'aquesta tesi ha estat la d'estudiar les funcions alternatives de la proteïna transportadora d'esteroids sexuals (SHBG/ABP) a l'espermatogènesi i al càncer de pròstata. 1) A l'espermatogènesi s'ha treballat amb dos models diferents, un és el ratolí transgènic que sobreexpressa la SHBG/ABP de rata i l'altre el ratolí transgènic que sobreexpressa la SHBG/ABP humana. [...]
The aim of this thesis is to study the alternative funcions of the sex hormone-binding globulin / androgen-binding protein (SHBG/ABP) during the espermatogenesis and prostate cancer. 1) In the study of the espermatogenesis we have used two different models: the transgenic mice overexpressing the rat SHBG/ABP, and the transgenic mice overexpressing the human SHBG/ABP. [...]

Bellaterra : Universitat Autònoma de Barcelona, 2002
3 documents
4.
154 p, 2.5 MB Anàlisi de l'expressió i dels mecanismes d'acció del receptor d'estrògens beta en el càncer de próstata / Hurtado Rodríguez, Antoni ; Munell Casadesus, Francina, dir. ; Reventós i Puigjaner, Jaume, dir. (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Els estrògens poden regular la progressió del cicle cel·lular, tot i que la contribució concreta i els mecanismes d'acció del receptor d'estrògens beta (ER?) no s'ha descobert encara. En aquest treball s'ha analitzat els nivells d'ER?1 i d'ER?2 a través del cicle cel·lular, com també els mecanismes d'acció i les conseqüències de la sobrexpressió d'ER?1 en la línia cel·lular humana de càncer de pròstata LNCaP. [...]
It is well known that estrogens regulate cell cycle progression, but the specific contributions and mechanisms of action of the estrogen receptor beta (ER?) remain elusive. In this work has been analyzed the levels of ER?1 and ER?2 throughout the cell cycle, as well as the mechanisms of action and the consequences of the over-expression of ER?1 in the human prostate cancer LNCaP cell line. [...]

Bellaterra : Universitat Autònoma de Barcelona, 2007  
5.
40 p, 472.9 KB Estudi de l'expressió de gens reguladors de l'apoptosi durant l'espermatogènesi de la rata adulta / Martínez Tirado, Òscar ; Munell Casadesus, Francina, dir. (Hospital Universitari Vall d'Hebron) ; Reventós i Puigjaner, Jaume, dir. (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Per a que el desenvolupament i la maduració testicular tinguin lloc d'una manera correcta, es fa necessari que existeixi un equilibri entre els fenomens de proliferació, diferenciació i mort cel·lular. [...]
To reach a correct testicular development and maduration, it is necessary a balance between proliferation, differentiation and cell death. Since severals years ago it is known, that apoptosis is important to eliminate damaged cells during mammal spermatogenesis, including humans. [...]

Bellaterra : Universitat Autònoma de Barcelona, 2002
6 documents
6.
77 p, 788.4 KB Identificació i caracterització de factors implicats en la protecció i en la regeneració del múscul esquelètic de ratolí sotmès a necrosi-regeneració crònica / Roma Castañé, Josep ; Roig Quilis, Manuel, dir. (Universitat Autònoma de Barcelona. Departament de Pediatria, d'Obstetrícia i Ginecologia i de Medicina Preventiva) ; Munell Casadesus, Francina, dir.
La distròfia muscular de Duchenne (DMD) és una de les malalaties recessives lligades al cromosoma X més comuns essent la seva causa primària el dèficit de distrofina, proteïna localitzada en la cara interna del sarcolema. [...]
Duchenne Muscular Dystrophy (DMD) is one of the most common X-linked diseases. DMD is due to mutations in the DMD gene, which results in lack or dysfunction of dystrophin, a 427 KDa protein localised at the inner face of the sarcolemma. [...]

Bellaterra : Universitat Autònoma de Barcelona, 2004
4 documents

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