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Articles, 2 records found
Articles 2 records found  
1.
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  
2.
5 p, 238.9 KB Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3) : a two-case report / Bettencourt, Conceição (Universidade dos Açores. Center of Research in Natural Resources) ; Pereira dos Santos, Cristina Maria (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ; Coutinho, Paula (Universidade do Porto. Institute for Molecular and Cell Biology) ; Rizzu, P. (Amsterdam UMC. University Medical Center) ; Vasconcelos, João (Hospital of Divino Espirito Santo. Department of Neurology) ; Kay, Teresa (Hospital of D. Estefania. Department of Clinical Genetics (Lisboa, Portugal)) ; Cymbron, Teresa (Universidade dos Açores. Center of Research in Natural Resources) ; Raposo, Mafalda (Universidade dos Açores. Center of Research in Natural Resources) ; Heutink, Peter (Amsterdam UMC. University Medical Center) ; Lima, Manuela (Universidade dos Açores. Center of Research in Natural Resources)
Background: Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene. [...]
2011 - 10.1186/1471-2377-11-131
BMC Neurology, Vol. 11, N. 131 (October 2011) , p. 1-5  

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