-
1دورية أكاديمية
المؤلفون: Wirth, T., Garone, G., Kurian, M.A., Piton, A., Millan, F., Telegrafi, A., Drouot, N., Rudolf, G., Chelly, J., Marks, W., Burglen, L., Demailly, D., Coubes, P., Castro-Jimenez, M., Joriot, S., Ghoumid, J., Belin, J., Faucheux, J.M., Blumkin, L., Hull, M., Parnes, M., Ravelli, C., Poulen, G., Calmels, N., Nemeth, A.H., Smith, M., Barnicoat, A., Ewenczyk, C., Méneret, A., Roze, E., Keren, B., Mignot, C., Beroud, C., Acosta, F., Nowak, C., Wilson, W.G., Steel, D., Capuano, A., Vidailhet, M., Lin, J.P., Tranchant, C., Cif, L., Doummar, D., Anheim, M.
المصدر: Movement disorders, vol. 37, no. 7, pp. 1547-1554
مصطلحات موضوعية: Dystonia/genetics, Dystonic Disorders/genetics, GTP-Binding Protein alpha Subunits, Gi-Go/genetics, Humans, Movement Disorders/genetics, Parkinsonian Disorders/genetics, Phenotype, GNAO1, dystonia, mutation, phenotypes
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35722775; info:eu-repo/semantics/altIdentifier/eissn/1531-8257; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_7700259238450; https://serval.unil.ch/notice/serval:BIB_770025923845Test; urn:issn:0885-3185; https://serval.unil.ch/resource/serval:BIB_770025923845.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7700259238450Test
الإتاحة: https://doi.org/10.1002/mds.29074Test
https://serval.unil.ch/notice/serval:BIB_770025923845Test
https://serval.unil.ch/resource/serval:BIB_770025923845.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7700259238450Test -
2دورية أكاديمية
المؤلفون: Stamberger, Hannah, Crosiers, David, Balagura, Ganna, Bonardi, Claudia M, Basu, Anna, Cantalupo, Gaetano, Chiesa, Valentina, Christensen, Jakob, Dalla Bernardina, Bernardo, Ellis, Colin A, Furia, Francesca, Gardiner, Fiona, Giron, Camille, Guerrini, Renzo, Klein, Karl Martin, Korff, Christian, Krijtova, Hana, Leffler, Melanie, Lerche, Holger, Lesca, Gaetan, Lewis-Smith, David, Marini, Carla, Marjanovic, Dragan, Mazzola, Laure, McKeown Ruggiero, Sarah, Mochel, Fanny, Ramond, Francis, Reif, Philipp S, Richard-Mornas, Aurélie, Rosenow, Felix, Schropp, Christian, Thomas, Rhys H, Vignoli, Aglaia, Weber, Yvonne, Palmer, Elizabeth, Helbig, Ingo, Scheffer, Ingrid E, Striano, Pasquale, Møller, Rikke S, Gardella, Elena, Weckhuysen, Sarah
المصدر: ISSN: 0028-3878 ; Neurology, vol. 99, no. 3 (2022) p. e221-e233.
مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Activities of Daily Living, Adolescent, Adult, Electroencephalography, Epilepsy, Humans, Infant, Middle Aged, Movement Disorders / genetics, Munc18 Proteins / genetics, Mutation, Seizures / genetics, Young Adult
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35851549; https://archive-ouverte.unige.ch/unige:176913Test; unige:176913
-
3دورية أكاديمية
المؤلفون: Melland, Holly, Bumbak, Fabian, Kolesnik-Taylor, Anna, Ng-Cordell, Elise, John, Abinayah, Constantinou, Panayiotis, Joss, Shelagh, Larsen, Martin, Fagerberg, Christina, Laulund, Lone Walentin, Thies, Jenny, Emslie, Frances, Willemsen, Marjolein, Kleefstra, Tjitske, Pfundt, Rolf, Barrick, Rebekah, Chang, Richard, Loong, Lucy, Alfadhel, Majid, van der Smagt, Jasper, Nizon, Mathilde, Kurian, Manju, Scott, Daniel J, Ziarek, Joshua J, Gordon, Sarah L, Baker, Kate
المصدر: Melland , H , Bumbak , F , Kolesnik-Taylor , A , Ng-Cordell , E , John , A , Constantinou , P , Joss , S , Larsen , M , Fagerberg , C , Laulund , L W , Thies , J , Emslie , F , Willemsen , M , Kleefstra , T , Pfundt , R , Barrick , R , Chang , R , Loong , L , Alfadhel , M , van der Smagt , J , Nizon , M , Kurian , M , Scott , D J , Ziarek , J ....
مصطلحات موضوعية: Intellectual disability, Neurotransmission, Synapse, Synaptic vesicle, Synaptotagmin, Movement Disorders/genetics, Humans, Genotype, Calcium/metabolism, Intellectual Disability/genetics, Phenotype, Neurodevelopmental Disorders/genetics, Synaptotagmin I/genetics
وصف الملف: application/pdf
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/86a56958-8543-48cb-8dc5-2b9c3b64a4a5Test
الإتاحة: https://doi.org/10.1016/j.gim.2021.12.002Test
https://portal.findresearcher.sdu.dk/da/publications/86a56958-8543-48cb-8dc5-2b9c3b64a4a5Test
https://findresearcher.sdu.dk/ws/files/201013847/1_s2.0_S1098360021054216_main.pdfTest -
4دورية أكاديمية
المؤلفون: François‐Heude, Marie‐Céline, Lebigot, Elise, Roze, Emmanuel, Warde, Marie Thérèse Abi, Cances, Claude, Damaj, Lena, Espil, Caroline, Fluss, Joel Victor, de Lonlay, Pascale, Kern, Ilse, Lenaers, Guy, Munnich, Arnold, Meyer, Pierre, Spitz, Marie‐Aude, Torre, Stéphanie, Doummar, Diane, Touati, Guy, Leboucq, Nicolas, Roubertie, Agathe
المصدر: ISSN: 1351-5101 ; European journal of neurology, vol. 29, no. 11 (2022) p. 3229-3242.
مصطلحات موضوعية: info:eu-repo/classification/ddc/618, ECHS1, HIBCH, Dystonia, Inherited metabolic disease, Abnormalities, Multiple, Amino Acid Metabolism, Inborn Errors, Chorea, Coenzyme A, Dystonic Disorders / genetics, Enoyl-CoA Hydratase / metabolism, Humans, Leigh Disease / diagnosis, Leigh Disease / genetics, Movement Disorders / genetics, Thiolester Hydrolases / deficiency, Valine / metabolism
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36200804; https://archive-ouverte.unige.ch/unige:172014Test; unige:172014
-
5دورية أكاديمية
المساهمون: College of Medicine, Dept. of Ophthalmology, Hyun Goo Kang, Min Kim, Sung Chul Lee, Kim, Min, Lee, Sung Chul
مصطلحات موضوعية: Ceruloplasmin/deficiency, Ceruloplasmin/genetics, DNA Mutational Analysis, Female, Fluorescein Angiography, Humans, Iron Metabolism Disorders/diagnosis, Iron Metabolism Disorders/genetics, Middle Aged, Movement Disorders/genetics, Mutation, Neurodegenerative Diseases/diagnosis, Neurodegenerative Diseases/genetics, Retinal Diseases/diagnosis, Retinal Diseases/genetics, Retinal Pigment Epithelium/pathology, Tomography, Optical Coherence
العلاقة: JAMA OPHTHALMOLOGY; J01200; 2013~; ~2012 Archives of Ophthalmology; OAK-2016-08684; https://ir.ymlib.yonsei.ac.kr/handle/22282913/153172Test; http://jamanetwork.com/journals/jamaophthalmology/fullarticle/2531420Test; T201606183; JAMA OPHTHALMOLOGY, Vol.134(7) : 160816, 2016
الإتاحة: https://doi.org/10.1001/jamaophthalmol.2016.0816Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/153172Test
http://jamanetwork.com/journals/jamaophthalmology/fullarticle/2531420Test -
6دورية أكاديمية
المؤلفون: Son, Woo-Young, Lee, Heon-Jeong, Yoon, Ho-Kyoung, Kang, Seung-Gul, Park, Young-Min, Yang, Hee Jung, Choi, Jung-Eun, An, Hyonggin, Seo, Han-Kyu, Kim, Leen
المصدر: Nordic Journal of Psychiatry. 68(2):123
-
7دورية أكاديمية
المؤلفون: Kang, Seung-Gul, Lee, Heon-Jeong, Yoon, Ho-Kyoung, Cho, Sung Nam, Park, Young-Min, Kim, Leen
المصدر: Nordic Journal of Psychiatry. 67(3):214
-
8دورية أكاديمية
المؤلفون: Johannesen, Katrine M, Gardella, Elena, Encinas, Alejandra C, Lehesjoki, Anna-Elina, Linnankivi, Tarja, Petersen, Michael B, Lund, Ida Charlotte Bay, Blichfeldt, Susanne, Miranda, Maria J, Pal, Deb K, Lascelles, Karine, Procopis, Peter, Orsini, Alessandro, Bonuccelli, Alice, Giacomini, Thea, Helbig, Ingo, Fenger, Christina D, Sisodiya, Sanjay M, Hernandez-Hernandez, Laura, Krithika, Sundararaman, Rumple, Melissa, Masnada, Silvia, Valente, Marialuisa, Cereda, Cristina, Giordano, Lucio, Accorsi, Patrizia, Bürki, Sarah E, Mancardi, Margherita, Korff, Christian, Guerrini, Renzo, von Spiczak, Sarah, Hoffman-Zacharska, Dorota, Mazurczak, Tomasz, Coppola, Antonietta, Buono, Salvatore, Vecchi, Marilena, Hammer, Michael F, Varesio, Costanza, Veggiotti, Pierangelo, Lal, Dennis, Brünger, Tobias, Zara, Federico, Striano, Pasquale, Rubboli, Guido, Møller, Rikke S
المصدر: ISSN: 0013-9580 ; Epilepsia, vol. 60, no. 5 (2019) p. 830-844.
مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Anticonvulsants/therapeutic use, Ataxia/genetics, Child, Preschool, Cognitive Dysfunction/genetics, Electroencephalography, Epilepsy/drug therapy/genetics/physiopathology, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Infant, Intellectual Disability/genetics, Language Development Disorders/genetics, Movement Disorders/genetics, Muscle Hypotonia/genetics, Mutation, Missense, NAV1.6 Voltage-Gated Sodium Channel/genetics, Pedigree, Severity of Illness Index
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30968951; https://archive-ouverte.unige.ch/unige:146004Test; unige:146004
-
9دورية أكاديمية
المؤلفون: Traschuetz, Andreas, van Gaalen, Judith, van de Warrenburg, Bart P, Synofzik, Matthis, Oosterloo, Mayke, Vreeburg, Maaike, Kamsteeg, Erik-Jan, Deininger, Natalie, Rieß, Olaf, Reimold, Matthias, Haack, Tobias, Schöls, Ludger
المصدر: Parkinsonism & related disorders 62, 215-220 (2019). doi:10.1016/j.parkreldis.2018.11.027
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adolescent, Adult, Child, Preschool, Female, Humans, Male, Middle Aged, Movement Disorders: diagnostic imaging, Movement Disorders: genetics, Pedigree, Spinocerebellar Degenerations: diagnostic imaging, Spinocerebellar Degenerations: genetics, psy, socio
جغرافية الموضوع: DE
-
10دورية أكاديمية
المؤلفون: Traschuetz, Andreas, Hayer, Stefanie N, Bender, Benjamin, Schöls, Ludger, Biskup, Saskia, Synofzik, Matthis
المصدر: Parkinsonism & related disorders 60, 176-178 (2019). doi:10.1016/j.parkreldis.2018.09.031
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Cannabinoid Receptor Agonists: administration & dosage, Cannabinoid Receptor Agonists: pharmacology, Consanguinity, Dronabinol: administration & dosage, Dronabinol: pharmacology, Humans, Hyperkinesis: drug therapy, Hyperkinesis: genetics, Hyperkinesis: pathology, Hyperkinesis: physiopathology, Magnetic Resonance Imaging, Male, Medical Marijuana: administration & dosage, Medical Marijuana: pharmacology, Mitochondrial Proteins: genetics, Movement Disorders: drug therapy, Movement Disorders: genetics, Movement Disorders: pathology, Movement Disorders: physiopathology, Peptide Elongation Factors: genetics, Subthalamic Nucleus: diagnostic imaging, Subthalamic Nucleus: pathology, Young Adult
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:30297209; info:eu-repo/semantics/altIdentifier/issn/1873-5126; info:eu-repo/semantics/altIdentifier/issn/1353-8020; https://pub.dzne.de/record/140663Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-06985%22Test
