-
1
المؤلفون: Samuel F. Berkovic, Andrew Bleasel, Hadassa Goldberg-Stern, Bronwyn E. Grinton, Sara Kivity, Leanne M. Dibbens, Elizabeth K. Ruzzo, John A. Damiano, Lata Vadlamudi, Zaid Afawi, Georgie C. Glubb, Jodie P. Malone, Rosemary Burgess, Padraic Grattan-Smith, Yue-Hua Zhang, Danya F. Vears, Katherine L. Helbig, Amos D. Korczyn, Ingrid E. Scheffer, Susannah T. Bellows, Michael S. Hildebrand
المصدر: Neurology. 89:1210-1219
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Seizures, Febrile, Genetic epilepsy, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Childhood absence epilepsy, medicine, Humans, Age of Onset, Focal Epilepsies, Generalized epilepsy, Child, business.industry, Infant, Genetic data, Middle Aged, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Child, Preschool, Immunology, Epilepsy, Generalized, Female, Epilepsies, Partial, Neurology (clinical), Age of onset, business, Generalized epilepsy with febrile seizures plus, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18390db2eb361bf30fba2f9cd97e9d43Test
https://doi.org/10.1212/wnl.0000000000004384Test -
2
المصدر: Journal of Paediatrics and Child Health. 51:1235-1238
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Neurology, biology, business.industry, Treatment outcome, Sydenham's chorea, Acute rheumatic fever, Chorea, Neurological disorder, medicine.disease, mental disorders, Pediatrics, Perinatology and Child Health, Immunology, biology.protein, Medicine, Rheumatic fever, Antibody, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b72f97971df59c6a2909302b0551fe6aTest
https://doi.org/10.1111/jpc.12915Test -
3
المؤلفون: Sarah A. Sandaradura, Yiran Guo, Hakon Hakonarson, Jim Lagopoulos, Victor S.C. Fung, John Christodoulou, Nigel Wolfe, Amali Mallawaarachchi, Florence C.F. Chang, Padraic Grattan-Smith, Chong Wong, Renata Pellegrino da Silva, Hugo Morales-Briceño
المصدر: Neurology. 92(2)
مصطلحات موضوعية: Adult, Ataxia, 03 medical and health sciences, 0302 clinical medicine, Thalamus, Chorea, medicine, Humans, Ictal, 030212 general & internal medicine, Amino Acid Metabolism, Inborn Errors, Clinical/Scientific Notes, Drowning, business.industry, Paroxysmal dyskinesia, medicine.disease, Magnetic Resonance Imaging, Hypotonia, Absence seizure, Ethosuximide, Anesthesia, 4-Aminobutyrate Transaminase, Female, Neurology (clinical), Liver function, medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9e9430b5954cd8aa165e61da59b3757Test
https://pubmed.ncbi.nlm.nih.gov/30617166Test -
4
المؤلفون: Victor S.C. Fung, Sudarshini Ramanathan, Sekhar Pillai, Padraic Grattan-Smith, Fabienne Brilot, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale
المصدر: Movement Disorders. 29:1539-1542
مصطلحات موضوعية: Dystonia, medicine.medical_specialty, Movement disorders, business.industry, musculoskeletal, neural, and ocular physiology, Perseveration, Chorea, medicine.disease, Virology, Gastroenterology, nervous system diseases, nervous system, Neurology, Stereotypy, Internal medicine, mental disorders, Basal ganglia, medicine, NMDA receptor, Neurology (clinical), medicine.symptom, business, Encephalitis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bc87c7fa74df53aa192516cbda0211baTest
https://doi.org/10.1002/mds.25999Test -
5
المؤلفون: Junya Kobayashi, Padraic Grattan-Smith, Geoff W. Birrell, Jason K. Cullen, Thilo Dörk, Nuri Gueven, Olivier J. Becherel, Michael T. Ryan, Nor Azian Abdul Murad, Martin F. Lavin, David R. Thorburn, Jiang Yang, Matthew McKenzie
المصدر: Mitochondrion. 13:235-245
مصطلحات موضوعية: Mitochondrial DNA, Mitochondrial Diseases, Ataxia, DNA damage, DNA Mutational Analysis, Mutation, Missense, Chromosome Disorders, Biology, Mitochondrion, medicine.disease_cause, DNA, Mitochondrial, Electron Transport, medicine, Animals, Humans, Oculomotor apraxia, Molecular Biology, Gene, Membrane Potential, Mitochondrial, Mutation, Protein Stability, Cell Biology, Cytochromes b, medicine.disease, Mitochondria, Cell biology, Oxidative Stress, Amino Acid Substitution, Biochemistry, Molecular Medicine, Tumor Suppressor Protein p53, medicine.symptom, Reactive Oxygen Species, Oxidative stress
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08eb7afbcf2d4ce5f1cf2622c05daaebTest
https://doi.org/10.1016/j.mito.2012.11.006Test -
6
المؤلفون: Padraic Grattan-Smith, Russell C. Dale
مصطلحات موضوعية: medicine.medical_specialty, Hysteria, Affect (psychology), medicine.disease, Motor function, 030227 psychiatry, Social life, 03 medical and health sciences, Lethargy, 0302 clinical medicine, medicine, Psychogenic disease, Psychology, Psychiatry, Conversion disorder, 030217 neurology & neurosurgery, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a7681b62998220442381f36a6bc47b15Test
https://doi.org/10.1016/b978-0-12-801772-2.00040-0Test -
7
المصدر: Developmental Medicine & Child Neurology. 54:618-623
مصطلحات موضوعية: Dystonia, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Movement disorders, business.industry, Chorea, Paroxysmal dyskinesia, medicine.disease, nervous system diseases, Benign hereditary chorea, Developmental Neuroscience, SGCE, Dyskinesia, mental disorders, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, business, PRRT2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5427218dcaf68f639b4a94480ead67cbTest
https://doi.org/10.1111/j.1469-8749.2012.04287.xTest -
8
المؤلفون: Mary O'Regan, Jean-Pierre Lin, Shekeeb S. Mohammad, Lisa Copeland, Russell C. Dale, Michaela Waak, Joseph D. Symonds, K. Sinclair, Terry Coyne, David Coman, Peter A. Silburn, Jim McGill, Stephen M. Malone, Richard Selway, Padraic Grattan-Smith
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 89:221-222
مصطلحات موضوعية: 0301 basic medicine, Pediatric intensive care unit, Dystonia, medicine.medical_specialty, Pediatrics, Neurology, Deep brain stimulation, business.industry, medicine.medical_treatment, Splenium, Chorea, 030105 genetics & heredity, Corpus callosum, medicine.disease, 03 medical and health sciences, Psychiatry and Mental health, 0302 clinical medicine, medicine, Physical therapy, Surgery, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Dyskinetic cerebral palsy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1fb09c9a256faf1423588b9faf3f69a0Test
https://doi.org/10.1136/jnnp-2017-315653Test -
9
المؤلفون: John Pereira, Nicholas Smith, Padraic Grattan-Smith
المصدر: Journal of Paediatrics and Child Health. 50:E72-E76
مصطلحات موضوعية: medicine.medical_specialty, Retrospective review, Guillain-Barre syndrome, medicine.diagnostic_test, Nerve root, business.industry, Gadolinium, chemistry.chemical_element, Magnetic resonance imaging, Gold standard (test), medicine.disease, Surgery, Cerebrospinal fluid, chemistry, Clinical diagnosis, Pediatrics, Perinatology and Child Health, Medicine, Radiology, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::866e8634de3d326c83cf8b93720c820bTest
https://doi.org/10.1111/j.1440-1754.2010.01802.xTest -
10
المؤلفون: S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi
المساهمون: IANNICELLI M, BRANCATI F, MOUGOU-ZERELLI S, MAZZOTTA A, THOMAS S, ELKHARTOUFI N, TRAVAGLINI L, GOMES C, ARDISSINO GL, BERTINI E, BOLTSHAUSER E, CASTORINA P, D'ARRIGO S, FISCHETTO R, LEROY B, LOGET P, BONNIÈRE M, STARCK L, TANTAU J, GENTILIN B, MAJORE S, SWISTUN D, FLORI E, LALATTA F, PANTALEONI C, PENZIEN J, GRAMMATICO P, INTERNATIONAL JSRD STUDY GROUP, DALLAPICCOLA B, GLEESON JG, ATTIE-BITACH T, VALENTE EM. COLLABORATORS: ALI PACHA L, TAZIR M, ZANKL A, LEVENTER R, GRATTAN-SMITH P, JANECKE A, D'HOOGHE M, SZNAJER Y, VAN COSTER R, DEMERLEIR L, DIAS K, MOCO C, MOREIRA A, AE KIM C, MAEGAWA G, LONCAREVIC D, MEJASKI-BOSNJAK V, PETKOVIC D, ABDEL-SALAM GM, ABDEL-ALEEM A, ZAKI MS, MARTI I, QUIJANO-ROY S, SIGAUDY S, DE LONLAY P, ROMANO S, VERLOES A, TOURAINE R, KOENIG M, LAGIER-TOURENNE C, MESSER J, COLLIGNON P, WOLF N, PHILIPPI H, LEMKE J, DACOU-VOUTETAKIS C, KITSIOU TZELI S, PONS R, SZTRIHA L, HALLDORSSON S, JOHANNSDOTTIR J, LUDVIGSSON P, PHADKE SR, UDANI V, STUART B, MAGEE A, LEV D, MICHELSON M, BEN-ZEEV B, DI GIACOMO M, GENTILE M, GUANTI G, D'ADDATO O, PAPADIA F, SPANO M, BERNARDI F, SERI M, BENEDICENTI F, STANZIAL F, BORGATTI R, ACCORSI P, BATTAGLIA S, FAZZI E, GIORDANO L, IZZI C, PINELLI L, BOCCONE L, GUANCIALI P, ROMOLI R, BIGONI S, FERLINI A, ANDREUCCI E, DONATI MA, GENUARDI M, CARIDI G, DIVIZIA MT, FARAVELLI F, GHIGGERI G, PESSAGNO, AMORINI M, BRIGUGLIO M, BRIUGLIA S, RIGOLI L, SALPIETRO C, TORTORELLA G, ADAMI A, MARRA G, RIVA D, SCELSA B, SPACCINI L, UZIEL G, COPPOLA G, DEL GIUDICE E, VITIELLO G, LAVERDA AM, LUDWIG K, PERMUNIAN A, SUPPIEJ A, MACALUSO C, SIGNORINI S, UGGETTI C, BATTINI R, PRIOLO M, CILIO MR, D'AMICO A, DI SABATO ML, EMMA F, LEUZZI V, PARISI P, STRINGINI G, ZANNI G, POLLAZZON M, RENIERI A, VASCOTTO M, SILENGO M, DE VESCOVI R, GRECO D, ROMANO C, CAZZAGON M, SIMONATI A, AL-TAWARI AA, BASTAKI L, MÉGARBANÉ A, MATULEVICIENE A, SABOLIC AVRAMOVSKA V, SAID E, DE JONG MM, PRESCOTT T, STROMME P, VON DER LIPPE C, KOUL R, RAJAB A, AZAM M, BARBOT C, JOCIC-JAKUBI B, GENER QUEROL B, MARTORELL SAMPOL L, RODRIGUEZ B, PASCUAL-CASTROVIEJO I, STROZZI S, FLUSS J, TEBER S, TOPCU M, ANLAR B, COMU S, KARACA E, KAYSERILI H, YÜKSEL A, AKGUL M, AKCAKUS M, AL GAZALI L, NICHOLL D, WOODS CG, BENNETT C, HURST J, SHERIDAN E, BARNICOAT A, CARR L, HENNEKAM R, LEES M, MCKAY F, YATES L, BLAIR E, BERNES S, SANCHEZ H, CLARK AE, DEMARCO E, DONAHUE C, SHERR E, HAHN J, SANGER TD, GALLAGER TE, DOBYNS WB, DAUGHERTY C, KRISHNAMOORTHY KS, SARCO D, WALSH CA, MCKANNA T, MILISA J, CJUNG WK, DE VIVO DC, RAYNES H, SCHUBERT R, SEWARD A, BROOKS DG, GOLDSTEIN A, CALDWELL J, FINSECKE E, MARIA BL, HOLDEN K, CRUSE RP, SWOBODA KJ, VISKOCHIL D., Pediatric surgery, NCA - Childhood White Matter Diseases, Iannicelli, M, Brancati, F, Mougou Zerelli, S, Mazzotta, A, Thomas, S, Elkhartoufi, N, Travaglini, L, Gomes, C, Ardissino, Gl, Bertini, E, Boltshauser, E, Castorina, P, D'Arrigo, S, Fischetto, R, Leroy, B, Loget, P, Bonnière, M, Starck, L, Tantau, J, Gentilin, B, Majore, S, Swistun, D, Flori, E, Lalatta, F, Pantaleoni, C, Penzien, J, Grammatico, P, Dallapiccola, B, Gleeson, Jg, Attie Bitach, T, Valente, Em, International JSRD Study, Group, DEL GIUDICE, Ennio, University of Zurich, Attie-Bitach, T
المصدر: International JSRD Study Group 2010, ' Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies ', Human Mutation, vol. 31, no. 5, pp. E1319-E1331 . https://doi.org/10.1002/humu.21239Test
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.مصطلحات موضوعية: Liver Cirrhosis, 2716 Genetics (clinical), meckelin, Ciliopathies, Joubert syndrome, Genotype, congenital hepatic fibrosis, coach syndrome, mks3, meckel syndrome, joubert syndrome, tmem67, TMEM67, Meckel syndrome, DNA Mutational Analysis, 610 Medicine & health, Biology, medicine.disease_cause, MKS3, COACH syndrome, Article, NO, 1311 Genetics, Nephronophthisis, Pregnancy, Prenatal Diagnosis, Genetics, medicine, COACH syndrome, Congenital hepatic fibrosis, Joubert syndrome, Meckel syndrome, MKS3, TMEM67, Missense mutation, Humans, Abnormalities, Multiple, Genetics (clinical), Mutation, Cilium, Membrane Proteins, Kidney Diseases, Cystic, medicine.disease, Phenotype, 10036 Medical Clinic, Female
وصف الملف: ELETTRONICO; IannicelliM,_2010.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f64992e7a2eb93dc8f809d7d786fcfTest
https://doi.org/10.1002/humu.21239Test