المؤلفون: Heidari, M, Johnstone, DM, Bassett, B, Graham, RM, Chua, AC, House, MJ, Collingwood, JF, Bettencourt, C, Houlden, H, Ryten, M, Olynyk, JK, Trinder, D, Milward, EA

المصدر: Molecular Psychiatry , 21 pp. 1599-1607. (2016)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1476769/1/mp2015192a.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1476769Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1476769/1/mp2015192a.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1476769Test/

المؤلفون: Bettencourt, C, Forabosco, P, Wiethoff, S, Heidari, M, Johnstone, DM, Botía, JA, Collingwood, JF, Hardy, J, UK Brain Expression Consortium (UKBEC), Milward, EA, Ryten, M, Houlden, H

المصدر: Neurobiology of Disease , 87 pp. 59-68. (2016)

مصطلحات موضوعية: Human brain, Iron metabolism, NBIA, WGCNA, Whole-transcriptome analysis

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1476646/1/1-s2.0-S0969996115301066-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1476646Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1476646/1/1-s2.0-S0969996115301066-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1476646Test/

المؤلفون: Gonçalo-Marques, J, Cunha, F, Bettencourt, C, Lavado, D, Grupo de estudo da doença invasiva a Haemophilus influenzae na criança

مصطلحات موضوعية: Haemophilus influenzae/isolamento & purificação, Infeções por Haemophilus, Criança

العلاقة: Acta Pediatr Port 2016;47:21-9; http://hdl.handle.net/10400.26/12716Test

الإتاحة: http://hdl.handle.net/10400.26/12716Test

المؤلفون: Bressan, M. C., Almeida, J., Santos Silva, J., Bettencourt, C., Francisco, A., Gama, L. T.

المساهمون: FCT, Instituto Nacional de Investigação Agrária e Veterinária, Direcção Regional de Agricultura e Pescas do Alentejo, Escola Superior Agrária de Santarém, Instituto Superior de Agronomia

المصدر: Journal of Animal Science ; volume 94, issue 6, page 2592-2602 ; ISSN 0021-8812 1525-3163

مصطلحات موضوعية: Genetics, Animal Science and Zoology, General Medicine, Food Science

الإتاحة: https://doi.org/10.2527/jas.2016-0276Test
http://academic.oup.com/jas/article-pdf/94/6/2592/23766914/2592.pdfTest

المؤلفون: Bressan, M. C., Almeida, J., Amaral, A., Bettencourt, C., Santos-Silva, J., Moreira, O., Bessa, R., Gama, L. T.

المصدر: Advances in Animal Health, Medicine and Production ; page 69-86 ; ISBN 9783030619800 9783030619817

الإتاحة: https://doi.org/10.1007/978-3-030-61981-7_4Test

المؤلفون: Lima, M., Costa, M.C., Montiel, R., Ferro, A., Santos, C., Silva, C., Bettencourt, C., Sousa, A., Sequeiros, J., Coutinho, P., Maciel, P.

المصدر: Human Heredity, 2005 Jan 01. 60(3), 156-163.

الوصول الحر: https://www.jstor.org/stable/48506667Test

المؤلفون: Gami, P, Murray, C, Schottlaender, L, Bettencourt, C, De Pablo Fernandez, E, Mudanohwo, E, Mizielinska, S, Polke, JM, Holton, JL, Isaacs, AM, Houlden, H, Revesz, T, Lashley, T

المصدر: Acta Neuropathologica , 130 (4) pp. 599-601. (2015)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1483223/1/Gami_A%2030-unit%20hexanucleotide%20repeat%20expansion%20in%20C9orf72%20induces%20pathological%20lesions.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1483223Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1483223/1/Gami_A%2030-unit%20hexanucleotide%20repeat%20expansion%20in%20C9orf72%20induces%20pathological%20lesions.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1483223Test/

المؤلفون: Mencacci, NE, Rubio-Agusti, I, Zdebik, A, Asmus, F, Ludtmann, MH, Ryten, M, Plagnol, V, Hauser, AK, Bandres-Ciga, S, Bettencourt, C, Forabosco, P, Hughes, D, Soutar, MM, Peall, K, Morris, HR, Trabzuni, D, Tekman, M, Stanescu, HC, Kleta, R, Carecchio, M, Zorzi, G, Nardocci, N, Garavaglia, B, Lohmann, E, Weissbach, A, Klein, C, Hardy, J, Pittman, AM, Foltynie, T, Abramov, AY, Gasser, T, Bhatia, KP, Wood, NW

المصدر: Am J Hum Genet , 96 (6) pp. 938-947. (2015)

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing, Base Sequence, Brain, Chromosome Mapping, Dystonic Disorders, Exome, Female, Gene Regulatory Networks, Genes, Dominant, Germany, Great Britain, Humans, Male, Molecular Sequence Data, Mutation, Missense, Pedigree, Potassium Channels, Sequence Analysis, DNA, Synaptic Transmission

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1469061/1/1-s2.0-S0002929715001457-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1469061Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1469061/1/1-s2.0-S0002929715001457-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1469061Test/

المؤلفون: Efthymiou, S., Salpietro, V., Malintan, N., Poncelet, M., Kriouile, Y., Fortuna, S., Zorzi, R. de, Payne, K., Henderson, L.B., Cortese, A., Maddirevula, S., Alhashmi, N., Wiethoff, S., Ryten, M., Botia, J.A., Provitera, V., Schuelke, M., Vandrovcova, J., Groppa, S., Karashova, B.M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Goraya, J.S., Sultan, T., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M.D., Maagdenberg, A.M.J.M. van den, Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A.M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B.M., Boles, R., Papacostas, S., Vikelis, M., Rothman, J., Kullmann, D., Papanicolaou, E.Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N.N., Atawneh, O., Lim, S.Y., Shaikh, F., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y.A., Minetti, C., Al-Khawaja, I., Al-Mutairi, F., Hamed, S., Pipis, M., Bettencourt, C., Rinaldi, S., Walsh, L., Torti, E., Iodice, V., Najafi, M., Karimiani, E.G., Maroofian, R., Siquier-Pernet, K., Boddaert, N., Lonlay, P. de, Cantagrel, V., Aguennouz, M., Khorassani, M. el, Schmidts, M., Alkuraya, F.S., Edvardson, S., Nolano, M., Devaux, J., Houlden, H., SYNAPS Study Grp

المساهمون: Efthymiou, S., Salpietro, V., Malintan, N., Poncelet, M., Kriouile, Y., Fortuna, S., De Zorzi, R., Payne, K., Henderson, L. B., Cortese, A., Maddirevula, S., Alhashmi, N., Wiethoff, S., Ryten, M., Botia, J. A., Provitera, V., Schuelke, M., Vandrovcova, J., Walsh, L., Torti, E., Iodice, V., Najafi, M., Karimiani, E. G., Maroofian, R., Siquier-Pernet, K., Boddaert, N., De Lonlay, P., Cantagrel, V., Aguennouz, M., El Khorassani, M., Schmidts, M., Alkuraya, F. S., Edvardson, S., Nolano, M., Devaux, J., Houlden, H., Groppa, S., Karashova, B. M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Goraya, J. S., Sultan, T., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., Van Den Maagdenberg, A. M. J. M., Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A. M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B. M., Boles, R., Papacostas, S., Vikelis, M., Rothman, J., Kullmann, D., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Lim, S. -Y., Shaikh, F., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y. A., Minetti, C., Al-Khawaja, I., Al-Mutairi, F., Hamed, S., Pipis, M., Bettencourt, C., Rinaldi, S., Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Laboratory of Molecular Biophysics, Department of Biochemistry, Department of Biochemistry, Hertie Institute for Clinical Brain Research and Center for Neurology, University of Tübingen, Department of Medical and Molecular Genetics, King‘s College London, Department of Human Genetics, Ruhr University Bochum (RUB), Universitat de Barcelona (UB), Fondazione, Leiden University Medical Center (LUMC), Department of Physiology and Cellular Biophysics [New York, NY, USA], Columbia University College of Physicians and Surgeons, Department of Microbiology, Università degli studi di Catania [Catania], Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Ceinge, centro di Ingegneria Genetica e Biotecnologie Avanzate, Unité des troubles du sommeil, Centre de référence national sur les maladies rares (narcolepsie, hypersomnie idiopathique, syndrome de Kleine-Levin)-Hôpital Gui-de-Chauliac, Muscular and Neurodegenerative Disease Unit, University of Genoa (UNIGE), Department of Molecular Neuroscience, University College of London [London] (UCL)-Institute of Neurology, Indiana University, Indiana University [Bloomington], Indiana University System-Indiana University System, Molecular and Clinical Sciences Institute - St George’s [London, UK] (Genetics Research Centre), University of London [London], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service métabolisme, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-CHU Necker - Enfants Malades [AP-HP], Department of Genetics and Metabolic Diseases and the Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center [Jerusalem], Centre de recherche en neurobiologie - neurophysiologie de Marseille (CRN2M), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Efthymiou S., Salpietro V., Malintan N., Poncelet M., Kriouile Y., Fortuna S., De Zorzi R., Payne K., Henderson L.B., Cortese A., Maddirevula S., Alhashmi N., Wiethoff S., Ryten M., Botia J.A., Provitera V., Schuelke M., Vandrovcova J., Walsh L., Torti E., Iodice V., Najafi M., Karimiani E.G., Maroofian R., Siquier-Pernet K., Boddaert N., De Lonlay P., Cantagrel V., Aguennouz M., El Khorassani M., Schmidts M., Alkuraya F.S., Edvardson S., Nolano M., Devaux J., Houlden H., Groppa S., Karashova B.M., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Goraya J.S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M.D., Van Den Maagdenberg A.M.J.M., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A.M., Garavaglia B., Borgione E., Portaro S., Sanchez B.M., Boles R., Papacostas S., Vikelis M., Rothman J., Kullmann D., Papanicolaou E.Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N.N., Atawneh O., Lim S.-Y., Shaikh F., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Zollo M., Heimer G., Dauvilliers Y.A., Minetti C., Al-Khawaja I., Al-Mutairi F., Hamed S., Pipis M., Bettencourt C., Rinaldi S., Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Marku, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-CHU Necker - Enfants Malades [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11)

المصدر: Brain
Brain, 142, 2948-2964. OXFORD UNIV PRESS
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (10), pp.2948-2964. ⟨10.1093/brain/awz248⟩
Web of Science

مصطلحات موضوعية: Male, [SDV]Life Sciences [q-bio], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Nerve Fibers, Myelinated, Gene Frequency, Neurodevelopmental Disorder, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], Nerve Growth Factor, Protein Isoforms, Child, ComputingMilieux_MISCELLANEOUS, Myelin Sheath, neurofascin, neurodevelopment, peripheral demyelination, Allele, Demyelinating Disease, Genomics, neurodevelopment, neurofascin, peripheral demyelination, Settore MED/39 - Neuropsichiatria Infantile, Pedigree, [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, Child, Preschool, Peripheral Nerve, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Neuroglia, Human, Adult, Adolescent, Nervous System Malformations, Guillain-Barre Syndrome, Axon, Nervous System Malformation, Ranvier's Nodes, Humans, Nerve Growth Factors, Peripheral Nerves, Alleles, Autoantibodies, Infant, Protein Isoform, Original Articles, Axons, nervous system, Neurodevelopmental Disorders, Cell Adhesion Molecule, Mutation, Cell Adhesion Molecules, Demyelinating Diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c7c064194867fb9fae777523d58b32c6Test
http://hdl.handle.net/11570/3144286Test

المؤلفون: Bensimon Etzol, J, Rizzi, Y, Gateau, T, Guersen, J, Pereira, B, Gouzou, E, Lanaret, M, Grand, O, Bettencourt, C, Bouvet, S, Ugolin, N, Chevillard, S, Boyer, Louis

المساهمون: Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), ANR-11-RSNR-0011,INDIRA,Tests rapides pour l'évaluation de la radiosensibilité individuelle : application à une cohorte de volontaires sains(2011)

المصدر: ISSN: 0938-7994.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: hal-03667201; https://uca.hal.science/hal-03667201Test

الإتاحة: https://doi.org/10.1007/s00330-021-07885-yTest
https://uca.hal.science/hal-03667201Test