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1دورية أكاديمية
المؤلفون: Ellwanger, KorneliaAff1, IDs41684024013952_cor1, Brill, Julie A.Aff2, Aff3, de Boer, ElkeAff4, Aff5, Efthymiou, Stephanie, Elgersma, Ype, Icmat, MarynelleAff2, Aff3, Lecoquierre, François, Lobato, Amanda G.Aff9, Aff10, Aff25, Morleo, ManuelaAff11, Aff12, Ori, Michela, Schaffer, Ashleigh E., Vitobello, AntonioAff15, Aff16, Wells, Sara, Yalcin, Binnaz, Zhai, R. GraceAff9, Aff25, Sturm, Marc, Zurek, Birte, Graessner, Holm, Bermejo-Sánchez, Eva, Evangelista, Teresinha, Hoogerbrugge, Nicoline, Nigro, VincenzoAff11, Aff12, Schüle, Rebecca, Verloes, Alain, Brunner, Han, Campeau, Philippe M., Lasko, Paul, Riess, OlafAff1, IDs41684024013952_cor28
المصدر: Lab Animal. 53(7):161-165
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2دورية أكاديمية
المؤلفون: Scaravilli, Alessandra, Gabusi, Ilaria, Mari, Gaia, Battocchio, Matteo, Bosticardo, Sara, Schiavi, Simona, Bender, Benjamin, Kessler, Christoph, Brais, Bernard, La Piana, RobertaAff5, Aff6, van de Warrenburg, Bart P., Cosottini, Mirco, Timmann, Dagmar, Daducci, Alessandro, Schüle, RebeccaAff4, Aff10, Aff11, Synofzik, MatthisAff10, Aff12, Santorelli, Filippo Maria, Cocozza, SirioAff1, IDs0041502412505y_cor19
المصدر: Journal of Neurology. :1-10
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3دورية أكاديمية
المؤلفون: Hendrickx, NielsAff1, IDs12248024009257_cor1, Mentré, France, Traschütz, AndreasAff2, Aff3, Gagnon, Cynthia, Schüle, RebeccaAff2, Aff3, Synofzik, MatthisAff2, Aff3, Comets, EmmanuelleAff1, Aff5
المصدر: The AAPS Journal: An Official Journal of the American Association of Pharmaceutical Scientists. 26(3)
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4دورية أكاديمية
المؤلفون: Hendrickx, NielsAff1, IDs12248024009328_cor1, Mentré, France, Traschütz, AndreasAff2, Aff3, Gagnon, Cynthia, Schüle, RebeccaAff2, Aff3, Synofzik, MatthisAff2, Aff3, Comets, EmmanuelleAff1, Aff5
المصدر: The AAPS Journal: An Official Journal of the American Association of Pharmaceutical Scientists. 26(4)
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5دورية أكاديميةShort-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
المؤلفون: Fleszar, ZofiaAff1, Aff2, Dufke, Claudia, Sturm, Marc, Schüle, RebeccaAff1, Aff2, Aff4, Schöls, LudgerAff1, Aff2, Aff5, Haack, Tobias B.Aff3, Aff5, Synofzik, MatthisAff1, Aff2, IDs00415023117458_cor7
المصدر: Journal of Neurology. 270(8):4112-4117
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6دورية أكاديمية
المؤلفون: Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary JH, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita
المصدر: Brain. 144(5)
مصطلحات موضوعية: Neurosciences, Neurodegenerative, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Female, Humans, Male, Mice, Mutation, Oxygenases, Pedigree, Rats, Spastic Paraplegia, Hereditary, Zebrafish, hereditary spastic paraplegia, HSP, autosomal recessive, mitochondrial disorder, HPDL, Genomics England Research Consortium, PREPARE network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3zq3c14v
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7دورية أكاديميةVitamin D
3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasisالمؤلفون: Ehnert, Sabrina, Hauser, Stefan, Hengel, HolgerAff2, Aff3, Höflinger, PhilipAff2, Aff3, Schüle, RebeccaAff2, Aff3, Lindig, Tobias, Baets, JonathanAff5, Aff6, Aff7, Deconinck, TineAff5, Aff6, Aff7, de Jonghe, PeterAff5, Aff6, Aff7, Histing, Tina, Nüssler, Andreas K., Schöls, LudgerAff2, Aff3, Aff9, IDs41598024530575_cor12, Rattay, Tim W.Aff2, Aff3, Aff9, Aff10, Aff11
المصدر: Scientific Reports. 14(1)
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8دورية أكاديمية
المؤلفون: Graessner, HolmAff1, Aff2, IDs13023024030231_cor1, Reinhard, CarolaAff1, Aff2, Bäumer, TobiasAff3, Aff4, Baumgärtner, Annette, Brockmann, Knut, Brüggemann, NorbertAff7, Aff8, Aff4, Bültmann, Eva, Erdmann, Jeanette, Heise, KirstinAff11, Aff12, Höglinger, GünterAff13, Aff14, Aff15, Hüning, Irina, Kaiser, Frank J., Klein, Christine, Klopstock, ThomasAff19, Aff20, Aff21, Krägeloh-Mann, Ingeborg, Kraemer, MarkusAff23, Aff24, Luedtke, Kerstin, Mücke, MartinAff26, Aff27, Aff28, Musacchio, ThomasAff29, Aff30, Nadke, Andreas, Osmanovic, Alma, Ritter, Gabriele, Röse, Katharina, Schippers, Christopher, Schöls, LudgerAff34, Aff35, Aff2, Schüle, RebeccaAff36, Aff37, Aff38, Schulz, Jörg B., Sproß, Joachim, Stasch, Eveline, Wunderlich, Gilbert, Münchau, AlexanderAff3, Aff4
المصدر: Orphanet Journal of Rare Diseases. 19(1)
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9دورية أكاديمية
المؤلفون: Malina, Jekaterina, Huessler, Eva-Maria, Jöckel, Karl-Heinz, Boog-Whiteside, Eva, Jeschonneck, Nicole, Schröder, Bernadette, Schüle, RebeccaAff4, Aff5, Aff6, Kühl, Tobias, Klebe, StephanAff1, IDs1302302303012w_cor9
المصدر: Orphanet Journal of Rare Diseases. 19(1)
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10دورية أكاديمية
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