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1دورية أكاديمية
المؤلفون: Materna, M, Delmonte, OM, Bosticardo, M, Momenilandi, M, Conrey, PE, Charmeteau-De Muylder, B, Bravetti, C, Bellworthy, R, Cederholm, A, Staels, F, Ganoza, CA, Darko, S, Sayed, S, Le Floc'h, C, Ogishi, M, Rinchai, D, Guenoun, A, Bolze, A, Khan, T, Gervais, A, Krüger, R, Völler, M, Palterer, B, Sadeghi-Shabestari, M, Langlois de Septenville, A, Schramm, CA, Shah, S, Tello-Cajiao, JJ, Pala, F, Amini, K, Campos, JS, Lima, NS, Eriksson, D, Lévy, R, Seeleuthner, Y, Jyonouchi, S, Ata, M, Al Ali, F, Stittrich, A, Deswarte, C, Pereira, A, Mégret, J, Le Voyer, T, Bastard, P, Berteloot, L, Dussiot, M, Vladikine, N, Cardenas, PP, Jouanguy, E, Alqahtani, M, Hasan, A, Thanaraj, TA, Rosain, J, Al Qureshah, F, Sabato, V, Alyanakian, MA, Leruez-Ville, M, Rozenberg, F, Haddad, E, Regueiro, JR, Toribio, ML, Kelsen, JR, Salehi, M, Nasiri, S, Torabizadeh, M, Rokni-Zadeh, H, Changi-Ashtiani, M, Vatandoost, N, Moravej, H, Akrami, SM, Mazloomrezaei, M, Cobat, A, Meyts, I, Toyofuku, E, Nishimura, M, Moriya, K, Mizukami, T, Imai, K, Abel, L, Malissen, B, Al-Mulla, F, Alkuraya, FS, Parvaneh, N, von Bernuth, H, Beetz, C, Davi, F, Douek, DC, Cheynier, R, Langlais, D, Landegren, N, Marr, N, Morio, T, Shahrooei, M, Schrijvers, R, Henrickson, SE, Luche, H, Notarangelo, LD, Casanova, JL, Béziat, V
المصدر: Science (New York, N.Y.). 383(6686)
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Wiessner, M, Maroofian, R, Ni, MY, Pedroni, A, Muller, JS, Stucka, R, Beetz, C, Efthymiou, S, Santorelli, FM, Alfares, AA, Zhu, CL, Meszarosova, AU, Alehabib, E, Bakhtiari, S, Janecke, AR, Otero, MG, Chen, JYH, Peterson, JT, Strom, TM, De Jonghe, P, Deconinck, T, De Ridder, W, De Winter, J, Pasquariello, R, Ricca, I, Alfadhel, M, van de Warrenburg, BP, Portier, R, Bergmann, C, Firouzabadi, SG, Jin, SC, Bilguvar, K, Hamed, S, Abdelhameed, M, Haridy, NA, Maqbool, S, Rahman, F, Anwar, N, Carmichael, J, Pagnamenta, A, Wood, NW, Mau-Them, FT, Haack, T, Di Rocco, M, Ceccherini, I, Iacomino, M, Zara, F, Salpietro, V, Scala, M, Rusmini, M, Xu, YR, Wang, YH, Suzuki, Y, Koh, K, Nan, HT, Ishiura, H, Tsuji, S, Lambert, L, Schmitt, E, Lacaze, E, Kupper, H, Dredge, D, Skraban, C, Goldstein, A, Willis, MJH, Grand, K, Graham, JM, Lewis, RA, Millan, F, Duman, O, Dundar, N, Uyanik, G, Schols, L, Nurnberg, P, Nurnberg, G, Bordes, AC, Seeman, P, Kuchar, M, Darvish, H, Rebelo, A, Boucanova, F, Medard, JJ, Chrast, R, Auer-Grumbach, M, Alkuraya, FS, Shamseldin, H, Al Tala, S, Varaghchi, JR, Najafi, M, Deschner, S, Glaser, D, Huttel, W, Kruer, MC, Kamsteeg, EJ, Takiyama, Y, Zuchner, S, Baets, J, Synofzik, M, Schule, R, Horvath, R, Houlden, H, Bartesaghi, L, Lee, HJ, Ampatzis, K, Pierson, TM, Senderek, J
المصدر: Brain : a journal of neurology. 144(5):1422-1434
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Tremsin, A S, Vallerga, J V, Siegmund, OHW, Beetz, C P, Boerstler, R W
المصدر: Review of Scientific Instruments. 75(4)
مصطلحات موضوعية: Microchannel plates, Thermal properties
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/84d7g638
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4دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
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5
المؤلفون: Pagnamenta, A. T., Kaiyrzhanov, R., Zou, Y. Q., Da'as, S. I., Maroofian, R., Donkervoort, S., Dominik, N., Lauffer, M., Ferla, M. P., Orioli, A., Giess, A., Tucci, A., Beetz, C., Sedghi, M., Ansari, B., Barresi, R., Basiri, K., Cortese, A., Elgar, G., Fernandez-Garcia, M. A., Yip, J., Foley, A. R., Gutowski, N., Jungbluth, H., Lassche, S., Lavin, T., Marcelis, C., Marks, P., Marini-Bettolo, C., Medne, L., Moslemi, Ali-Reza, Sarkozy, A., Reilly, M. M., Muntoni, F., Millan, F., Muraresku, C. C., Need, A. C., Nemeth, A. H., Neuhaus, S. B., Norwood, F., O'Donnell, M., O'Driscoll, M., Rankin, J., Yum, S. W., Zolkipli-Cunningham, Z., Brusius, I., Wunderlich, G., Karakaya, M., Wirth, B., Fakhro, K. A., Tajsharghi, H., Bonnemann, C. G., Taylor, J. C., Houlden, H.
المصدر: Brain : a journal of neurology. 144:584-600
مصطلحات موضوعية: Neurosciences, Neurovetenskaper, hereditary motor and sensory neuropathies, nerve conduction studies, EMG, genetics: neuropathy, whole-genome sequencing, matrix protein warp, zebrafish, mutations, model, genotype, sequence, genome, Neurosciences & Neurology
URL الوصول: https://gup.ub.gu.se/publication/305559
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6دورية أكاديمية
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7دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
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8
المؤلفون: Rus, C.M., Weissensteiner, T., Pereira, C., Susnea, I., Danquah, B.D., Morales Torres, G., Rocha, M.E., Cozma, C., Saravanakumar, D., Mannepalli, S., Kandaswamy, K.K., Di Bucchianico, S., Zimmermann, R., Rolfs, A., Bauer, P., Beetz, C.
المصدر: Orphanet J. Rare Dis. 17:179 (2022)
مصطلحات موضوعية: Male, Batten Disease, Cln6, Genotype, Lysosomal Storage Disorder, Neuronal Ceroid Lipofuscinoses, New Variant, Phenotype, Rare Disease, Adolescent, Neuronal Ceroid-Lipofuscinoses, Mutation, Humans, Membrane Proteins, Female, Myoclonic Epilepsies, Progressive
وصف الملف: application/pdf
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9
المؤلفون: Iqbal, M, Maroofian, R, Çavdarlı, B, Riccardi, F, Field, M, Banka, S, Bubshait, DK, Li, Y, Hertecant, J, Baig, SM, Dyment, D, Efthymiou, S, Abdullah, U, Makhdoom, EUH, Ali, Z, Scherf de Almeida, T, Molinari, F, Mignon-Ravix, C, Chabrol, B, Antony, J, Ades, L, Pagnamenta, AT, Jackson, A, Douzgou, S, Genomics England Research Consortium, Beetz, C, Karageorgou, V, Vona, B, Rad, A, Baig, JM, Sultan, T, Alvi, JR, Maqbool, S, Rahman, F, Toosi, MB, Ashrafzadeh, F, Imannezhad, S, Karimiani, EG, Sarwar, Y, Khan, S, Jameel, M, Noegel, AA, Budde, B, Altmüller, J, Motameny, S, Höhne, W, Houlden, H, Nürnberg, P, Wollnik, B, Villard, L, Alkuraya, FS, Osmond, M, Hussain, MS, Yigit, G
وصف الملف: application/pdf
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10
المؤلفون: Neuray, C., Maroofian, R., Scala, M., Sultan, T., Pai, G. S., Mojarrad, M., Khashab, H. E., Deholl, L., Yue, W., Alsaif, H. S., Zanetti, M. N., Bello, O., Person, R., Eslahi, A., Khazaei, Z., Feizabadi, M. H., Efthymiou, S., El-Bassyouni, H. T., Soliman, D. R., Tekes, S., Ozer, L., Baltaci, V., Khan, S., Beetz, C., Amr, K. S., Salpietro, V., Jamshidi, Y., Alkuraya, F. S., Houlden, H., Groppa, S., Karashova, B. M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Synaps, Group, Di Rosa, G., Aguennouz, M., Goraya, J. S., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., 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., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y. A., Striano, P., Al-Khawaja, I., Al-Mutairi, F., Sherifa, H.
المساهمون: Neuray C., Maroofian R., Scala M., Sultan T., Pai G.S., Mojarrad M., Khashab H.E., deHoll L., Yue W., Alsaif H.S., Zanetti M.N., Bello O., Person R., Eslahi A., Khazaei Z., Feizabadi M.H., Efthymiou S., El-Bassyouni H.T., Soliman D.R., Tekes S., Ozer L., Baltaci V., Khan S., Beetz C., Amr K.S., Salpietro V., Jamshidi Y., Alkuraya F.S., Houlden H., Mangano S., Dicle Üniversitesi, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Tıbbi Biyoloji Ana Bilim Dalı, Tekeş, Selahattin, University College of London [London] (UCL), Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), University of Genoa (UNIGE), IRCCS Istituto Giannina Gaslini [Genoa, Italy], Children's Hospital [Lahore], Institute of Child Health [Lahore], Medical University of South Carolina [Charleston] (MUSC), Mashhad University of Medical Sciences, Ain Shams University (ASU), University of Oxford [Oxford], GeneDx [Gaithersburg, MD, USA], Khorasan Razavi Agricultural and Natural Resources Research and Education Center, National Research Centre [Cairo, Egypt], Benha University (BU), Dicle University, CENTOGENE AG, University of London [London], King Faisal Specialist Hospital [Riyadh, Saudi Arabia] (Research Centre), SYNaPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Gabriella Di Rosa, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D Ferrari, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves A Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Brain
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (8), pp.2388-2397. ⟨10.1093/brain/awaa178⟩
Publonsمصطلحات موضوعية: Male, 0301 basic medicine, Glutamate decarboxylase, Malalties cerebrals, Neurotransmissors, Neurodevelopmental delay, Epilepsy, 0302 clinical medicine, MESH: Child, Age of Onset, Child, cleft palate, GAD1, AcademicSubjects/SCI01870, Glutamate Decarboxylase, Glutamate receptor, Muscle weakness, purl.org/becyt/ford/3.1 [https], Neurotransmitters, MESH: Infant, Hypotonia, muscle weakne, Cleft palate, MESH: Epilepsy, Child, Preschool, Muscle Hypotonia, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], purl.org/becyt/ford/3 [https], Female, Brain diseases, Abnormalities, medicine.symptom, Multiple, medicine.drug, epilepsy, muscle weakness, neurodevelopmental delay, MESH: Glutamate Decarboxylase, medicine.medical_specialty, MESH: Abnormalities, Multiple, MESH: Mutation, MESH: Age of Onset, Biology, Inhibitory postsynaptic potential, GAD1, cleft palate, epilepsy, muscle weakness, neurodevelopmental delay, gamma-Aminobutyric acid, 03 medical and health sciences, Excitatory synapse, Internal medicine, medicine, Humans, Abnormalities, Multiple, Preschool, Alleles, MESH: Neurodevelopmental Disorders, MESH: Humans, MESH: Muscle Hypotonia, MESH: Alleles, MESH: Child, Preschool, Infant, medicine.disease, MESH: Male, Epilèpsia, Editor's Choice, 030104 developmental biology, Endocrinology, Neurodevelopmental Disorders, Mutation, AcademicSubjects/MED00310, Neurology (clinical), MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery, Reports
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55108cc53157474a74f1616404044b9d
http://hdl.handle.net/11567/1022383
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