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1دورية أكاديمية
المؤلفون: 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.
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.
مصطلحات موضوعية: Neurodevelopment, Neurofascin, Peripheral demyelination, Adolescent, Adult, Allele, Axon, Cell Adhesion Molecule, Child, Preschool, Demyelinating Disease, Female, Gene Frequency, Human, Infant, Male, Mutation, Myelin Sheath, Nerve Fibers, Myelinated, Nerve Growth Factor, Nervous System Malformation, Neurodevelopmental Disorder, Neuroglia, Pedigree, Peripheral Nerve, Protein Isoform, Ranvier's Nodes
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000504322300013; volume:142; issue:10; firstpage:2948; lastpage:2964; numberofpages:17; journal:BRAIN; http://hdl.handle.net/11588/829221Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072849162
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2دورية أكاديمية
المؤلفون: Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H, Hanna MG, Bugiardini E, Hostettler I, O'Callaghan B, Khan A, Cortese A, O'Connor E, Yau WY, Bourinaris T, Kaiyrzhanov R, Chelban V, Madej M, Diana MC, Vari MS, Pedemonte M, Bruno C, Balagura G, Scala M, Fiorillo C, Nobili L, Malintan NT, Zanetti MN, Krishnakumar SS, Lignani G, Jepson JEC, Broda P, Baldassari S, Rossi P, Fruscione F, Madia F, Traverso M, De-Marco P, Pérez-Dueñas B, Munell F, Kriouile Y, El-Khorassani M, Karashova B, Avdjieva D, Kathom H, Tincheva R, Van-Maldergem L, Nachbauer W, Boesch S, Gagliano A, Amadori E, Goraya JS, Sultan T, Kirmani S, Ibrahim S, Jan F, Mine J, Banu S, Veggiotti P, Zuccotti GV, Ferrari MD, Van Den Maagdenberg AMJ, Verrotti A, Marseglia GL, Savasta S, Soler MA, Scuderi C, Borgione E, Chimenz R, Gitto E, Dipasquale V, Sallemi A, Fusco M, Cuppari C, Cutrupi MC, Ruggieri M, Cama A, Capra V, Mencacci NE, Boles R, Gupta N, Kabra M, Papacostas S, Zamba-Papanicolaou E, Dardiotis E, Maqbool S, Rana N, Atawneh O, Lim SY, Shaikh F, Koutsis G, Breza M, Coviello DA, Dauvilliers YA, AlKhawaja I, AlKhawaja M, Al-Mutairi F, Stojkovic T, Ferrucci V, Zollo M, Alkuraya FS, Kinali M, Sherifa H, Benrhouma H, Turki IBY, Tazir M, Obeid M, Bakhtadze S, Saadi NW, Zaki MS, Triki CC, Benfenati F, Gustincich S, Kara M, Belcastro V, Specchio N, Capovilla G, Karimiani EG, Salih AM, Okubadejo NU, Ojo OO, Oshinaike OO, Oguntunde O, Wahab K, Bello AH, Abubakar S, Obiabo Y, Nwazor E, Ekenze O, Williams U, Iyagba A, Taiwo L, Komolafe M, Senkevich K, Shashkin C, Zharkynbekova N, Koneyev K, Manizha G, Isrofilov M, Guliyeva U, Salayev K, Khachatryan S, Rossi S, Silvestri G, Haridy N, Ramenghi LA, Xiromerisiou G, David E, Aguennouz M, Fidani L, Spanaki C, Tucci A.
المساهمون: Salpietro, V, Dixon, Cl, Guo, H, Bello, Od, Vandrovcova, J, Efthymiou, S, Maroofian, R, Heimer, G, Burglen, L, Valence, S, Torti, E, Hacke, M, Rankin, J, Tariq, H, Colin, E, Procaccio, V, Striano, P, Mankad, K, Lieb, A, Chen, S, Pisani, L, Bettencourt, C, Männikkö, R, Manole, A, Brusco, A, Grosso, E, Ferrero, Gb, Armstrong-Moron, J, Gueden, S, Bar-Yosef, O, Tzadok, M, Monaghan, Kg, Santiago-Sim, T, Person, Re, Cho, Mt, Willaert, R, Yoo, Y, Chae, Jh, Quan, Y, Wu, H, Wang, T, Bernier, Ra, Xia, K, Blesson, A, Jain, M, Motazacker, Mm, Jaeger, B, Schneider, Al, Boysen, K, Muir, Am, Myers, Ct, Gavrilova, Rh, Gunderson, L, Schultz-Rogers, L, Klee, Ew, Dyment, D, Osmond, M, Parellada, M, Llorente, C, Gonzalez-Peñas, J, Carracedo, A, Van Haeringen, A, Ruivenkamp, C, Nava, C, Heron, D, Nardello, R, Iacomino, M, Minetti, C, Skabar, A, Fabretto, A, SYNAPS Study, Group, Raspall-Chaure, M, Chez, M, Tsai, A, Fassi, E, Shinawi, M, Constantino, Jn, De Zorzi, R, Fortuna, S, Kok, F, Keren, B, Bonneau, D, Choi, M, Benzeev, B, Zara, F, Mefford, Hc, Scheffer, Ie, Clayton-Smith, J, Macaya, A, Rothman, Je, Eichler, Ee, Kullmann, Dm, Houlden, H, Hanna, Mg, Bugiardini, E, Hostettler, I, O'Callaghan, B, Khan, A, Cortese, A, O'Connor, E
مصطلحات موضوعية: Adolescent, Adult, Brain, Child, Preschool, Cohort Studie, Female, Heterozygote, Human, Infant, Intellectual Disability, Loss of Function Mutation, Magnetic Resonance Imaging, Male, Neurodevelopmental Disorder, Receptors, AMPA, Young Adult
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31300657; info:eu-repo/semantics/altIdentifier/wos/WOS:000475295700001; volume:10; firstpage:1; lastpage:16; numberofpages:16; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11567/973820Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068965744
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3دورية أكاديمية
المؤلفون: Salpietro V., Perez-Duenas B., Nakashima K., San Antonio-Arce V., Manole A., Efthymiou S., Vandrovcova J., Bettencourt C., Mencacci N. E., Klein C., Kelly M. P., Davies C. H., Kimura H., Macaya A., Houlden H.
المساهمون: Salpietro, V., Perez-Duenas, B., Nakashima, K., San Antonio-Arce, V., Manole, A., Efthymiou, S., Vandrovcova, J., Bettencourt, C., Mencacci, N. E., Klein, C., Kelly, M. P., Davies, C. H., Kimura, H., Macaya, A., Houlden, H.
مصطلحات موضوعية: chorea, movement disorder, PDE2A, phosphodiesterase, striatum, Animal, Cyclic AMP, Cyclic GMP, Cyclic Nucleotide Phosphodiesterases, Type 2, Family Health, Genetic Testing, Human, Male, Mutation, Phosphoric Diester Hydrolase, RNA, Messenger
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29392776; info:eu-repo/semantics/altIdentifier/wos/WOS:000426736900020; volume:33; firstpage:482; lastpage:488; numberofpages:7; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11567/981551Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041332116
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4دورية أكاديمية
المؤلفون: Salpietro V., Efthymiou S., Manole A., Maurya B., Wiethoff S., Ashokkumar B., Cutrupi M. C., Dipasquale V., Manti S., Botia J. A., Ryten M., Vandrovcova J., Bello O. D., Bettencourt C., Mankad K., Mukherjee A., Mutsuddi M., Houlden H.
المساهمون: Salpietro, V., Efthymiou, S., Manole, A., Maurya, B., Wiethoff, S., Ashokkumar, B., Cutrupi, M. C., Dipasquale, V., Manti, S., Botia, J. A., Ryten, M., Vandrovcova, J., Bello, O. D., Bettencourt, C., Mankad, K., Mukherjee, A., Mutsuddi, M., Houlden, H.
مصطلحات موضوعية: DDX59, DEAD-box RNA Helicase, leukoencephalopathy, mahe, NOTCH signaling, Sonic Hedgehog signaling, Adult, Amino Acid Sequence, Animal, Central Nervous System, Child, Preschool, Drosophila, Female, Frameshift Mutation, Homozygote, Human, Male, Molecular Sequence Data, Mutation, RNA Helicase, Young Adult
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29127725; info:eu-repo/semantics/altIdentifier/wos/WOS:000419711500002; volume:39; firstpage:187; lastpage:192; numberofpages:6; journal:HUMAN MUTATION; http://hdl.handle.net/11567/969532Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85040374077
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5دورية أكاديمية
المؤلفون: Bettencourt C., SALPIETRO DAMIANO, VINCENZO, Efthymiou S., Chelban V., Hughes D., Pittman A. M., Federoff M., Bourinaris T., Spilioti M., Deretzi G., Kalantzakou T., Houlden H., Singleton A. B., Xiromerisiou G.
المساهمون: Bettencourt, C., SALPIETRO DAMIANO, Vincenzo, Efthymiou, S., Chelban, V., Hughes, D., Pittman, A. M., Federoff, M., Bourinaris, T., Spilioti, M., Deretzi, G., Kalantzakou, T., Houlden, H., Singleton, A. B., Xiromerisiou, G.
مصطلحات موضوعية: AP4 complex, Cerebellar hypoplasia, Epilepsy, Hereditary spastic paraplegia, Whole exome sequencing, Basic Helix-Loop-Helix Leucine Zipper Transcription Factor, Female, Genetic Association Studie, Human, Male, Mutation, Pedigree, Spastic Paraplegia, Hereditary
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29096665; info:eu-repo/semantics/altIdentifier/wos/WOS:000414536700002; volume:12 (1), 172; firstpage:1; lastpage:7; numberofpages:7; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11567/981511Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85032747659
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6دورية أكاديمية
المؤلفون: Kara, E, Tucci, A, Manzoni, C, Lynch, DS, Elpidorou, M, Bettencourt, C, Chelban, V, Manole, A, Hamed, SA, Haridy, NA, Federoff, M, Preza, E, Hughes, D, Pittman, A, Jaunmuktane, Z, Brandner, S, Xiromerisiou, G, Wiethoff, S, Schottlaender, L, Proukakis, C, Morris, H, Warner, T, Bhatia, KP, Korlipara, LVP, Singleton, AB, Hardy, J, Wood, NW, Lewis, PA, Houlden, H
مصطلحات موضوعية: Parkinson’s disease, SPG11, gene, hereditary spastic paraplegia, mutation, Adolescent, Adult, Cell Line, Child, Preschool, Cohort Studies, Female, Fibroblasts, Humans, Male, Pedigree, Phenotype, Proteins, Spastic Paraplegia, Hereditary, United Kingdom, Young Adult
وصف الملف: 1904 - 1918
العلاقة: Brain; https://qmro.qmul.ac.uk/xmlui/handle/123456789/67318Test
الإتاحة: https://doi.org/10.1093/brain/aww111Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/67318Test -
7دورية أكاديمية
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/
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8
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 Scienceمصطلحات 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 -
9دورية أكاديمية
المؤلفون: Wiethoff, S, Xiromerisiou, G, Bettencourt, C, Kioumi, A, Tsiptsios, I, Tychalas, A, Evaggelia, M, George, K, Makris, V, Hardy, J, Houlden, H
المصدر: Journal of the Neurological Sciences , 339 (1-2) pp. 220-222. (2014)
مصطلحات موضوعية: Acanthocytosis, Chorea, Frameshift deletion, McLeod syndromes, Non-CGD, Novel mutation, XK gene, Aged, Amino Acid Sequence, Amino Acid Transport Systems, Neutral, Base Pairing, Exons, Gene Deletion, Hemolysis, Humans, Male, Molecular Sequence Data, Muscular Atrophy, Neuroacanthocytosis, Pedigree, Peripheral Nervous System Diseases
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1419868/1/1-s2.0-S0022510X14000586-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1419868Test/
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10
المؤلفون: Salpietro V, Pérez-Dueñas B, Nakashima K, San Antonio-Arce V, Manole A, Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H, Macaya A, Houlden H
المصدر: Movement Disorders
MOVEMENT DISORDERS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: Cyclic Nucleotide Phosphodiesterases, Male, striatum, PDE2A, Messenger, chorea, movement disorders, phosphodiesterase, Animals, Chorea, Cyclic AMP, Cyclic GMP, Cyclic Nucleotide Phosphodiesterases, Type 2, Family Health, Genetic Testing, Humans, Mutation, Phosphoric Diester Hydrolases, RNA, Messenger, Brief Report, RNA, Brief Reports, Type 2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::35e6932131b27ec87b0f3bee455d05f0Test
https://pubmed.ncbi.nlm.nih.gov/29392776Test