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المؤلفون: Maia Farrugia Wismayer, Andrew Farrugia Wismayer, Rebecca Borg, Karl Bonavia, André Abela, Charmaine Chircop, Josanne Aquilina, Doriette Soler, Adrian Pace, Malcolm Vella, Neville Vassallo, Ruben J. Cauchi
مصطلحات موضوعية: Aging, Neuromuscular diseases, Motor neurons -- Diseases, General Neuroscience, Neurology (clinical), Geriatrics and Gerontology, Amyotrophic lateral sclerosis -- Patients -- Malta, Nervous system -- Degeneration, Genetics -- Malta, Developmental Biology
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2Academic Journal
المؤلفون: Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompsom R, Horvath R, Pèrez-Jurado L, Riess O, van Ommen GJ, Lochmüller A, Beltran S, RD-Connect GPAP and URD-Cat data contributors Alessandra Renieri, Ali Dursun, Antoni Matilla- Duenas, Bru Cormand, Carlo Rivolta, Carmen Ayuso, Carmen Espinós, Christian Scerri, Dilek Yalnizoglu, Doriette Soler, Eva Morava, Fabrizio Barbetti, Francesca Forzano, Francesca Mari, Francesco Muntoni, Frederic Tort, Henry James Houlden, Isabel Tejada, Jan Senderek, Javier Benitez, Javier Corral De La Calle, Jordi Serra, José Mª Millán, Jose segovia, Juan Ramon Gimeno Blanes, Judith Armstrong, Koksal Ozgul, Laura Vilarinho, Lluis Montoliu, Manuel Posada, Maria Antonietta Mencarelli, Marina Mora, Paola Bianchi, Pavel Seeman, Perry M. Elliott, Alessandra Ferlini, Alexis Brice, Brunhilde Wirth, Mike Hanna, Sarah Tabrizi, Thomas Klockgether, Vincent Timmerman, Volker Straub, Semra Hiz Kurul, Yavuz Oktay, Serdal Gungor, Ahmet Yaramis, Uluc Yis, Alfons Macaya, Antonia Ribes, Aurora Pujol, Conxi Lázaro, Daniel Grinberg, Eduardo Tizzano, Francesc Cardellach, Francesc Palau, Montse Milà, Pia Gallano, Rafael Artuch, Ramon Martí Seves, Gonzalo Villanueva, Silvia Vidal, Gloria Garrabou, Susanna Balcells, Roser Urreizti, Estrella López, Ivon Cuscó, Irene Valenzuela, Maria Sabater.
المساهمون: L, M, S, L, A, P, D, P, E, M, G, B, R, T, R, H, L, P, O, R, Ommen GJ, V, A, L, S, B, GPAP and URD-Cat data contributors Alessandra Renieri, R, Dursun, A, Matilla- Duenas, A, Cormand, B, Rivolta, C, Ayuso, C, Espinós, C, Scerri, C, Yalnizoglu, D, Soler, D, Morava, E, Barbetti, F, Forzano, F, Mari, F, Muntoni, F, Tort, F, James Houlden, H, Tejada, I, Senderek, J, Benitez, J, Corral De La Calle, J, Serra, J, Mª Millán, J, Segovia, J, Ramon Gimeno Blanes, J, Armstrong, J, Ozgul, K, Vilarinho, L, Montoliu, L, Posada, M, Antonietta Mencarelli, M, Mora, M, Bianchi, P, Seeman, P, Elliott, Pm, Ferlini, A, Brice, A, Wirth, B, Hanna, M, Tabrizi, S, Klockgether, T, Timmerman, V, Straub, V, Hiz Kurul, S, Oktay, Y, Gungor, S, Yaramis, A, Yis, U, Macaya, A, Ribes, A, Pujol, A, Lázaro, C, Grinberg, D, Tizzano, E, Cardellach, F, Palau, F, Milà, M, Gallano, P, Artuch, R, Martí Seves, R, Villanueva, G, Vidal, S, Garrabou, G, Balcells, S, Urreizti, R, López, E, Cuscó, I, Valenzuela, I, Sabater., M
مصطلحات موضوعية: Settore MED/03 - GENETICA MEDICA
Relation: info:eu-repo/semantics/altIdentifier/pmid/32619640; info:eu-repo/semantics/altIdentifier/wos/WOS:000569911300011; volume:22; issue:9; firstpage:1205; lastpage:1215; numberofpages:11; journal:THE JOURNAL OF MOLECULAR DIAGNOSTICS; http://hdl.handle.net/2108/258095; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85087791154
الاتاحة: http://hdl.handle.net/2108/258095
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المؤلفون: Daniela T. Pilz, Katrien Stouffs, Orly Reiner, Anna Jansen, Eleonora Aronica, Edith Said, Renske Oegema, WB Dobyns, Richard J. Leventer, David Gomez Andres, Nadia Bahi-Buisson, Martina Wilke, Ivana Pogledic, Dina Amrom, Ute Hehr, Ghayda Mirzaa, Elena Parrini, Luis M Valor, Renzo Guerrini, Valerio Conti, Andrew E. Fry, Doriette Soler, Tahsin Stefan Barakat, Grazia M.S. Mancini, Nataliya Di Donato, Maha S. Zaki, T. Geis
المساهمون: Clinical Genetics, Clinical sciences, Medical Genetics, Reproduction and Genetics, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Pathology, APH - Aging & Later Life, APH - Mental Health, ANS - Cellular & Molecular Mechanisms
المصدر: Nature reviews. Neurology
Nature Reviews Neurology, 16(11), 618-635. Nature Publishing Group
Nature Reviews. Neurology
Nature reviews. Neurology, 16(11), 618-635. Nature Publishing Groupمصطلحات موضوعية: medicine.medical_specialty, Consensus, Internationality, Delphi Technique, MEDLINE, Cerebral palsy, Cellular and Molecular Neuroscience, Epilepsy, Neurologie, Intellectual disability, medicine, Humans, Epilepsy surgery, Intensive care medicine, Diagnostic Tests, Routine, business.industry, Neurodevelopmental disorders, Consensus Statement, medicine.disease, Work-up, Paediatric neurological disorders, Malformations of Cortical Development, Workflow, Practice Guidelines as Topic, Etiology, Neurology (clinical), business, Sciences cognitives
وصف الملف: 2 full-text file(s): application/pdf; application/pdf
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المؤلفون: David Beeson, Hanns Lochmüller, Doriette Soler, Ariana Kariminejad, J. P. Sieb, Janbernd Kirschner, Beate Schlotter, Yalda Nilipour, Andoni Urtizberea, Nuria Muelas, Amina Chaouch, Ortrud K. Steinlein, Jaume Colomer, Bita Bozorgmehr, Jacqueline Palace, Carmelo Rodolico, Volker Straub, Juan J. Vílchez, Jan Senderek, Ralf Herrmann, Anders Oldfors, Hossein Najmabadi, Francesco Muntoni, Kate Bushby, Angela Abicht, Christopher Lindbergh, Shahriar Nafissi, Susan Maxwell, Benedikt Schoser, Andrés Nascimento, Marina Dusl, Cecilia Jimenez Mallebrera, Velina Guergueltcheva, Thomas Voit, Michael G. Hanna, Abdolhamid Najafi, Juliane S. Müller
المصدر: JOURNAL OF NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Weakness, Proximal muscle weakness, Positional cloning, Adolescent, DNA Mutational Analysis, Medizin, Neuromuscular transmission, Context (language use), Severity of Illness Index, Young Adult, Medicine, Humans, Child, health care economics and organizations, Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing), Myasthenic Syndromes, Congenital, Muscle biopsy, biology, medicine.diagnostic_test, business.industry, Congenital myasthenic syndromes, Dok-7, GFPT1, Limb-girdle myasthenia, Tubular aggregates, Congenital myasthenic syndrome, Middle Aged, medicine.disease, Neurology, Mutation, biology.protein, Neurology (clinical), medicine.symptom, business, Dok-7, Myopathies, Structural, Congenital
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المؤلفون: Rie Miyata, Hans H. Goebel, Miguel Del Campo, Salwa Al-Kaabi, Caroline Sewry, Georg F. Hoffmann, Peter M. Kroisel, Michael A. Simpson, Enrico Bertini, Stephen Abbs, Heinz Jungbluth, Birgit Brandmeier, Doriette Soler, Jozef Hertecant, Masaharu Hayashi, Carlo Dionisi-Vici, Stefan Koelker, Frances Smith, Shehla Mohammed, Verity M Mcclelland, Christian Koerner, David K. Manchester, Amber E. ten Hoedt, Mohammed Al-Owain, Dragana Josifova, Christian Windpassinger, Shu Yau, Mathias Gautel, Stefan Buk, Francis Filloux, Ay Lin Kho, Istvan Bodi, R. Curtis Rogers, Zoe Urry, Elizabeth Said, Thomas Cullup, Frits A. Wijburg
المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases
المصدر: Nature genetics
Nature genetics, 45(1), 83-87. Nature Publishing Groupمصطلحات موضوعية: Biopsy, Vesicular Transport Proteins, Autophagy-Related Proteins, Genes, Recessive, Consanguinity, Biology, medicine.disease_cause, Article, Cataract, 03 medical and health sciences, 0302 clinical medicine, Cataracts, Antigens, Neoplasm, Genetics, medicine, Autophagy, Humans, Vici syndrome, Exome, Family, Muscle, Skeletal, Immunodeficiency, 030304 developmental biology, 0303 health sciences, Mutation, Intracellular Signaling Peptides and Proteins, Lysosome-Associated Membrane Glycoproteins, Proteins, medicine.disease, Autophagy Protein 5, Agenesis of Corpus Callosum, Lysosomes, 030217 neurology & neurosurgery
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المؤلفون: Edith Said, Doriette Soler, Caroline Sewry
المصدر: American Journal of Medical Genetics Part A. :440-444
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Biopsy, Cataract, Muscular Diseases, Internal medicine, Genetics, medicine, Humans, Vici syndrome, Agenesis of the corpus callosum, Myopathy, Genetics (clinical), Immunodeficiency, Hypopigmentation, Muscle biopsy, medicine.diagnostic_test, business.industry, Immunologic Deficiency Syndromes, Infant, Neurodegenerative Diseases, medicine.disease, Endocrinology, Agenesis, Failure to thrive, Disease Progression, Female, Agenesis of Corpus Callosum, medicine.symptom, business
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المؤلفون: Andrew Amato-Gauci, Doriette Soler, Dennis Baldacchino
المصدر: Journal of Public Health. 15:199-209
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, medicine.diagnostic_test, Referral, business.industry, media_common.quotation_subject, Public health, Public Health, Environmental and Occupational Health, Physical examination, Troubleshooting, medicine.disease, Test (assessment), Epidemiology, medicine, Clinical data management, Quality (business), Medical emergency, business, media_common
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المؤلفون: Colin D. Ferrie, Johannes S H Vles, Cyril Goizet, Dominique Roland, Alec Aeby, Simon Attard Montalto, Bruce E. Hayward, Yanick J. Crow, Pierre Landrieu, Yong-hui Jiang, Stavit A. Shalev, John P McClure, Willam S Benko, Carlos A. Bacino, Kevin Rostasy, Pam Tomlin, John Dean, Andrew P. Jackson, Catherine Dery, Helen Cox, Peter Corry, John Tolmie, Daniel R. Carvalho, Sameer M. Zuberi, Sunita Seal, Bruno Barroso, Federica Vagnarelli, Margo L. Whiteford, Sally Ann Lynch, Giovanni Lanzi, Hans-Jurgen Christen, Enrico Bertini, Suzanna G.M. Frints, Gyan P Sinha, Bernhard Weschke, Amy Kao, Ken K. Nischal, Kate Chandler, Raphael Schiffmann, Ben C.J. Hamel, Simona Orcesi, Andrew Green, Blanca Gener, Pierre Lebon, Daphna Marom, R. Curtis Rogers, Gillian I. Rice, Ian M. Carr, Agnes Guet, C Sierra Corcoles, Raoul C.M. Hennekam, Sabine Scholl-Bürgi, Teresa Patrick, Claire F Taylor, Dieter Kotzot, Mary D. King, Evangeline Wassmer, Claudine De Praeter, Nathalie Van der Aa, Christopher J. Burke, Edward Blair, Wilfried Kratzer, Han G. Brunner, Marianne Till, Marie-Laure Moutard, Lieven Lagae, Adeline Vanderver, Frances M. Cowan, Andrea Leitch, Julie S. Prendiville, Didier Lacombe, Michèl A.A.P. Willemsen, E G Hermione Lyall, Thomas Voit, Rekha Parmar, John R. Østergaard, Tracy A Briggs, John H. Livingston, Doriette Soler, Andrew J. Kornberg, Marie Husson, Marjo S. van der Knaap, Francoise Goutieres, Enza Maria Valente, Arvid Heiberg, Helen Kingston, John B.P. Stephenson, Joerg Klepper, Serge B. Melançon, Peter Baxter, Amparo Sanchis, Louise Brueton, Andreas Zankl, Elisa Fazzi, Rasieka Jayatunga, David T. Bonthron, Michael J. Lyons, Stefano D'Arrigo, Uta Tacke, Elisabeth Rosser, Carsten Bergmann, Agathe Roubertie, Kim Flintoff, Ronen Spiegel, Rudy Van Coster, Roberta Biancheri, Tiong Yang Tan, Corinne De Laet, Jean Aicardi, Sarina G. Kant, Magnhild Rasmussen, Robert McWilliam, Charles Marques Lourenço, Leena D Mewasingh, Angels García-Cazorla, Rafael Artuch, Nenad Blau, Ming K. Lim
المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatric Genetics, Pediatric surgery, Leeds Institute of Molecular Medicine, St. James's University Hospital, Mutation Detection Facility, Leeds General Infirmary, Erasme Hospital, Children's Hospital Queen Fabiola, Hôpital Trousseau, Hôpital Bicêtre, Groupe Hospitalier Pitié-Salpêtrière, Hôpital Cochin-St. Vincent de Paul, Hospital Sant Joan de Déu-Ciberer, St. Luke's Hospital, Baylor College of Medicine, Centre Hospitalier, Children's Hospital, National Institutes of Health, RWTH Aachen University, Bambino Gesù Children's Research Hospital, Mendel Institute, G. Gaslini Institute, Churchill Hospital, University Children's Hospital, Birmingham Women's Hospital, Sandwell and West Birmingham NHS Trust, Birmingham Children's Hospital, Radboud University, Royal Children's Hospital, Universidade Estadual Paulista (Unesp), St. Mary's Hospital, Kinderkrankenhaus Auf der Bult, Bradford National Health Service (NHS) Trust, Fondazione Istituto Neurologico C. Besta, Grampian Clinical Genetics Centre, University Hospital, Maastricht University Hospital, Great Ormond Street Hospital, Guy's and St. Thomas' NHS Trust, Université Laval Medical School, Hospital de Cruces, Centre Hospitalier Universitaire Pellegrin Enfants, Our Lady's Hospital, Children's University Hospital, Rikshospitalet-Radiumhospitalet, Academic Medical Center, Vrije Universiteit Medical Center, Western General Hospital, Leiden University Medical Center, Oregon Health and Science University, Klinikum Aschaffenburg, Medical University Innsbruck, Children's Hospital Innsbruck, Klinik für Kinder und Jugendliche, University Hospitals of Gasthuisberg, IRCCS Casimiro Mondino Institute of Neurology, Universidade de São Paulo (USP), Greenwood Genetic Center, Rabin Medical Center, Crosshouse Hospital, Royal Hospital for Sick Children, Montreal Children's Hospital, University Hospitals of Leicester NHS Trust, University Hospital of Aarhus, British Columbia's Children's Hospital, Institut de Pathologie et de Génétique, Guide Chauliac Hospital, Hospital Universitario Doctor Peset, Ha'Emek Medical Center, Technion, Complejo Hospitalario de Jean, Manor Hospital, Hôpital Debrousse, Lancashire Teaching Hospitals Trust, Arcispedale Santa Maria Nuova, Center for Medical Genetics, Children's National Medical Center, Humboldt University, Wellcome Trust Brenner Building
المصدر: American journal of human genetics, 81(4), 713-725. Cell Press
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
American Journal of Human Genetics, 81, 713-25
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H-J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Dery, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutieres, F, Green, A J, Guet, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y-H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, van der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M-L, Nischal, K K, Ostergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Burgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tan, T Y, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutieres syndrome ', American Journal of Human Genetics, vol. 81, no. 4, pp. 713-25 . https://doi.org/10.1086/521373
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Déry, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutières, F, Green, A J, Guët, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, Van Der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M L, Nischal, K K, Østergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Bürgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tiong, Y T, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van Der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutières syndrome ', American journal of human genetics, vol. 81, no. 4, pp. 713-725 . https://doi.org/10.1086/521373
American Journal of Human Genetics, 81, 4, pp. 713-25
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H-J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Dery, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutieres, F, Green, A J, Guet, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y-H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, van der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M-L, Nischal, K K, Østergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Burgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tan, T Y, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutieres syndrome. ', American Journal of Human Genetics, vol. 81, no. 4, pp. 713-25 . https://doi.org/10.1086/521373
The American journal of human geneticsمصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], genotype, DNA Mutational Analysis, Medizin, medicine.disease_cause, Locus heterogeneity, mutator gene, Genotype, Missense mutation, Genetics(clinical), Child, Genetics (clinical), Ribonuclease H, Calf Thymus, Genetics, Mutation, Brain, Calcinosis, genetic screening, Syndrome, humanities, Aicardi Goutieres syndrome, Chilblains, Phenotype, priority journal, Child, Preschool, RNASEH2A gene, TREX1 gene, Female, Functional Neurogenomics [DCN 2], Adult, RNASEH2B gene, Adolescent, phenotype, Ribonuclease H, Molecular Sequence Data, Lymphocytosis, Biology, gene frequency, Article, Aicardi syndrome, Genomic disorders and inherited multi-system disorders [IGMD 3], pedigree analysis, Basal Ganglia Diseases, RNASEH2C gene, medicine, Humans, controlled study, human, Allele frequency, gene identification, missense mutation, Infant, Newborn, Infant, nucleotide sequence, medicine.disease, Phosphoproteins, major clinical study, mortality, Neuromuscular development and genetic disorders [UMCN 3.1], congenital infection, Exodeoxyribonucleases, Genetic defects of metabolism [UMCN 5.1], Immunology, Endonuclease complex, Aicardi–Goutières syndrome, Human medicine
وصف الملف: application/pdf; pdf
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المؤلفون: Stanley Zammit, Doriette Soler, Sheila Wolfendale
المصدر: DECP Debate. 1:9-13
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المؤلفون: Marlène Rio, Vincent Laugel, Christine Barnerias, Vijay Aswani, Guillermo Agosta, Rachel Straussberg, Diana Chase, Maja Di Rocco, Mohamed S. Abdel-Hamid, Daniel R. Carvalho, Montse Arellano, Maya Thomas, Yanick J. Crow, Giovanni Crichiutti, Lyvia Dabydeen, Miriam Bloom, Kathryn J. Swoboda, Bertrand Isidor, Kevin J. Murray, Nasaim Khan, Agathe Roubertie, Kathryn Bailey, Johanna Lowenstein Schmidt, Noemi Nunez-Enamorado, Venkateswaran Ramesh, Simona Orcesi, Michael C Fahey, Keng Wee Teik, Ram L. Kumar, Gabriella Forte, Roberta Battini, Alec Aeby, Flore Rozenberg, Nadia Bahi-Buisson, Eileen Baildam, Sam Ackroyd, Magnhild Rasmussen, Doriette Soler, Diana Rodriguez, Marjo S. van der Knaap, Sheela Nampoothiri, Bülent Kara, Ivana Olivieri, Julie Vogt, Julie S. Prendiville, Ghada M H Abdel-Salam, Thierry Billette de Villemeur, Ronen Spiegel, Tommy Stödberg, Rudy Van Coster, Marianne Till, Alberto B. Burlina, Enza Maria Valente, Patrick J. Oades, Gyanranjan P. Sinha, Beverley Anderson, William P Whitehouse, Raymon Vijzelaar, Liesbeth De Waele, Cristina Cereda, Hannah J. Webb, Gillian I. Rice, Geneviève Bernard, Anthony Oojageer, Stefano D'Arrigo, Ming K. Lim, Donncha Hanrahan, Nuno Cordeiro, Adeline Vanderver, Hannah Gornall, Manuel Castro-Gago, Johann te Water Naude, Grace Vassallo, Stavit Allon-Shalev, Belén Pérez-Dueñas, Charles Marques Lourenço, Sameer M. Zuberi, Magalie Barth, Lieven Lagae, Cyril Goizet, Christian de Goede, Tiong Yang Tan, Jenny Morton, Riyana Babul-Hirji, Mark T Mackay, Geoffrey Wallace, Elisabetta Salvatici, Heinz Lauffer, Corinne De Laet, Federica Ricci, Russell C. Dale, Maria Luisa Carpanelli, Catherine Albin, Elisa Fazzi, Michael W. Beresford, Pierre Lebon, Abigail Collins, Roberta La Piana, Amy Pizzino, Edward Blair, Nirmala Rani Gowrinathan, Mohnish Suri, Rima Nabbout, Guy Helman, Luc Régal, Karin Segers, John H. Livingston, Davide Tonduti, Uta Tacke, António Figueiredo, Robyn Whitney, Blanca Gener, John R. Østergaard, David Chitayat, Kalpana Gowrishankar, Tarja Linnankivi, Edwin P. Kirk, Jean-Pierre Lin, Pierre Landrieu, Isabella Moroni, Mary D. King, Colin D. Ferrie, Koenraad Devriendt, Anna Cavallini, Shane McKee, Marika Bianchi, Daphna Marom, Marcin Szynkiewicz, Isabelle Desguerre, Evangeline Wassmer, Kate Chandler, Maha S. Zaki, Inés Denzler, Giada Ariaudo, Marie Laure Moutard, Concepcion Sierra Corcoles
المساهمون: Pediatric surgery, NCA - Brain mechanisms in health and disease, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Other departments
المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Crow, Y J, Chase, D S, Schmidt, J L, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, de Villemeur, T B, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Corcoles, C S, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, de Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, L, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J P S M, Linnankivi, T, Mackay, M T, Marom, D R, Lourenco, C M, McKee, S A, Moroni, I, Morton, J E V, Moutard, M L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Perez-Duenas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Regal, L, Ricci, F, Rio, M, Knaap, M, Orcesi, S & Rice, G I 2015, ' Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 ', American Journal of Medical Genetics Part A, vol. 167, no. 2, pp. 296-312 . https://doi.org/10.1002/ajmg.a.36887
Crow, Y J, Chase, D S, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, Billette de Villemeur, T, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Sierra Corcoles, C, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, De Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, B, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J-P S-M, Linnankivi, T, Mackay, M T, Marom, D R, Marques Lourenço, C, McKee, S A, Moroni, I, Morton, J E V, Moutard, M-L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Pérez-Dueñas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Régal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, K A, Sinha, G P, Soler, D, Spiegel, R, Stödberg, T I, Straussberg, R, Swoboda, K J, Suri, M, Tacke, U, Tan, T Y, te Water Naude, J, Wee Teik, K, Thomas, M M, Till, M, Tonduti, D, Valente, E M, Van Coster, R N, van der Knaap, M S, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, G B, Wassmer, E, Webb, H J, Whitehouse, W P, Whitney, R N, Zaki, M S, Zuberi, S M, Livingston, J H, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S & Rice, G I 2015, ' Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 ', American Journal of Medical Genetics. Part A, vol. 167A, no. 2, pp. 296-312 . https://doi.org/10.1002/ajmg.a.36887
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
American Journal of Medical Genetics Part A, 167(2), 296-312. Wiley-Liss Inc.
American journal of medical genetics. Part A, 167(2), 296-312. Wiley-Liss Inc.
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: Interferon-Induced Helicase, IFIH1, Adenosine Deaminase, Autoimmune diseases, Fenótipo, Disease, Aicardi–Goutieres syndrome, Aicardi-Goutières syndrome, Bilateral striatal necrosis, DEAD-box RNA Helicases, 0302 clinical medicine, Genetics (clinical), 0303 health sciences, Doenças auto-imunes do sistema nervoso, 3. Good health, Phenotype, Spastic paraparesis, Biomarker (medicine), Vasculitis, bilateral striatal necrosis, spastic paraparesis, type I interferon, interferon signature, Genotype, Encephalopathy, Ribonuclease H, Alpha interferon, Biology, Nervous System Malformations, Article, SAM Domain and HD Domain-Containing Protein 1, 03 medical and health sciences, Autoimmune Diseases of the Nervous System, SDG 3 - Good Health and Well-being, Interferon signature, Type I interferon, Exodeoxyribonucleases, Genetic Association Studies, Humans, Interferons, Monomeric GTP-Binding Proteins, Phosphoproteins, Pterins, Mutation, Genetics, medicine, Chilblains, 030304 developmental biology, Aicardi-Goutieres syndromebilateral striatal necrosisspastic paraparesistype I interferoninterferon signature, medicine.disease, Peripheral neuropathy, Immunology, Aicardi–Goutières syndrome, 030217 neurology & neurosurgery
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11
المؤلفون: Sinéad M. Murphy, Henry Houlden, Michael P. Lunn, Mary M. Reilly, Doriette Soler, Michael Donaghy, Mark Roberts, Nicola Foulds, Sebastian Brandner, Hadi Manji, Francesco Muntoni, James M. Polke, Gita Ramdharry, Rita Horvath, Gabrielle L. Davidson, NP Davies, S. Price, Julian Blake, M. A. Mohamed Salih, Matilde Laura, Mary B. Davis
المصدر: Journal of neurology. 259(8)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Mutation rate, Adolescent, Population, Serine C-Palmitoyltransferase, medicine.disease_cause, Article, Cohort Studies, Young Adult, Mutation Rate, Hereditary sensory and autonomic neuropathy, HSN2, Medicine, Humans, SPTLC1, Mutation frequency, Hereditary Sensory and Autonomic Neuropathies, education, Child, Genetics, Mutation, education.field_of_study, business.industry, Genetic heterogeneity, Infant, Newborn, Middle Aged, medicine.disease, United Kingdom, Pedigree, Neurology, Child, Preschool, Female, Neurology (clinical), business
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المؤلفون: Stavit A. Shalev, Iain W. Manfield, Tracy A Briggs, Manir Ali, Richard M. Jackson, Elisa Fazzi, Peter Corry, Adeline Vanderver, Simona Orcesi, Daphna Marom, Angels Garcia Cazorla, Simon Attard-Montalto, Marwan Shinawi, Louise Brueton, Isabelle Desguerre, Ian M. Carr, Lieven Lagae, Charles Marques Lourenço, Tiong Yang Tan, Lydia R Couthard, Pierre Landrieu, Jonathan C. Fuller, Ben C.J. Hamel, Evangeline Wassmer, Rebecca L. Brunette, Pierre Lebon, Jacquelyn Bond, William G. Van Der Merwe, Emma Wakeling, Elizabeth Whittaker, Matthew F. Hunter, Ronen Spiegel, Enrico Bertini, Daniel B. Stetson, Ram L. Kumar, Blanca Gener, Gillian I. Rice, Julie S. Prendiville, Christine Bodemer, Doriette Soler, Arvid Heiberg, Marjo S. van der Knaap, Teresa Lamb, Knut Brockmann, Hannah Gornall, Magnhild Rasmussen, David T. Bonthron, Alec Aeby, Michael F. McDermott, Aruna Asipu, Yanick J. Crow
المساهمون: Other departments, University of Groningen, Pediatric surgery, NCA - Childhood White Matter Diseases
المصدر: Nature genetics, 41(7), 829-U89. Nature Publishing Group
Nature Genetics, 41(7), 829-U89. Nature Publishing Group
Rice, G I, Bond, J, Asipu, A, Brunette, R L, Manfield, I W, Carr, I M, Fuller, J H, Jackson, R B, Lamb, T, Briggs, T A, Ali, M, Gornall, H, Couthard, L R, Aeby, A, Attard-Montalto, S P, Bertini, E, Bodemer, C, Brockmann, K, Brueton, L A, Corry, P C, Desguerre, I, Fazzi, E, Cazorla, A G, Gener, B, Hamel, B C, Heiberg, A, Hunter, M, van der Knaap, M S, Kumar, R, Lagae, L, Landrieu, P G, Lourenco, C M, Marom, D, McDermott, M F, van der Merwe, W, Orcesi, S, Prendiville, J S, Rasmussen, M, Shalev, S A, Soler, D M, Shinawi, M, Spiegel, R, Tan, T Y, Vanderver, A, Wakeling, E L, Wassmer, E, Whittaker, E, Lebon, P, Stetson, D B, Bonthron, D T & Crow, Y J 2009, ' Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response ', Nature Genetics, vol. 41, no. 7, pp. 829-832 . https://doi.org/10.1038/ng.373
Nature Genetics, 41(7), 829-832. Nature Publishing Groupمصطلحات موضوعية: INTERFERON, GENES, AUTOIMMUNITY, Ribonucleotide excision repair, Regulator, VIRUS-INFECTION, Biology, medicine.disease_cause, Article, Aicardi syndrome, Autoimmunity, SAM Domain and HD Domain-Containing Protein 1, 03 medical and health sciences, 0302 clinical medicine, Immune system, DOMAIN, GAMMA-INDUCED PROTEIN, EXONUCLEASE TREX1, Genetics, medicine, Humans, CONGENITAL INFECTION, SYSTEMIC-LUPUS-ERYTHEMATOSUS, Gene, 030304 developmental biology, Monomeric GTP-Binding Proteins, 0303 health sciences, Innate immune system, Brain Diseases, Metabolic, Inborn, medicine.disease, Immunity, Innate, 3. Good health, Amino Acid Substitution, Immunology, Aicardi–Goutières syndrome, 030217 neurology & neurosurgery
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13Academic Journal
المؤلفون: Gillian Rice, Teresa Patrick, Rekha Parmar, Claire F. Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward M. Blair, Nenad Blau, David T. Bonthron, Tracy Briggs, Louise A. Brueton, Han G. Brunner, Christopher J. Burke, Ian M. Carr, Daniel R. Carvalho, Kate E. Ch, Peter C. Corry, Frances M. Cowan, Helen Cox, John Dean, Corinne De Laet, Claudine De Praeter, Colin D. Ferrie, Kim Flintoff, Suzanna G. M. Frints, Angels Garcia-cazorla, Blanca Gener, Cyril Goizet, Andrew J. Green, Ben C. J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. Hennekam, Mary D. King, Helen M. Kingston, Marjo S. Van Der Knaap, Andrew J. Kornberg, Giovanni Lanzi, Andrea Leitch, Ming J. Lim, John H. Livingston, Charles M. Lourenco, E. G. Hermione Lyall, Sally A. Lynch, Michael J. Lyons, Daphna Marom, John P. Mcclure, Robert Mcwilliam, Serge B. Melancon, Leena D. Mewasingh, Marie-laure Moutard, Ken K. Nischal, John R. Østergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers, Dominique Rol, Elisabeth M. Rosser, Kevin Rostasy, Agathe Roubertie, Amparo Sanchis, Raphael Schiffmann, Sunita Seal, Stavit A. Shalev, C. Sierra Corcoles, Gyan P. Sinha, Doriette Soler, Ronen Spiegel, John B. P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John L. Tolmie, Pam Tomlin, Federica Vagnarelli, Enza Maria Valente, Rudy N. A. Van Coster, Nathalie Van Der Aa, Adeline V, Johannes S. H. Vles, Thomas Voit, Evangeline Wassmer, Bernhard Weschke, Margo L. Whiteford, Michel A. A. Willemsen, Andreas Zankl, Sameer M. Zuberi, Simona Orcesi, Elisa Fazzi, Pierre Lebon, Yanick J. Crow
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: http://biblioteca.asmn.re.it/pubblicazioni/Am J Hum Genet 2007.pdf.
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.537.1184; http://biblioteca.asmn.re.it/pubblicazioni/Am J Hum Genet 2007.pdf
الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.537.1184
http://biblioteca.asmn.re.it/pubblicazioni/Am J Hum Genet 2007.pdf