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收藏分享 收藏 分享 收藏 Phenotypic variability in cases with CACNA1A mutation
Bozkaya-Yilmaz, Sema; Olgac-Dundar, Nihal; Aliyeva, Nargiz; Ersen, Atilla; Gencpinar, Pinar; Gungor, Mesut; Hiz, Ayse Semra; Yis, Uluc; Sarikaya-Uzan, Gamze; Sarigecili, Esra; Kirik, Serkan; Erol, Ilknur; Besen, Seyda; Kayilioglu, Hulya; Haspolat, Senay; Kipoglu, Osman; Ekici, Arzu; Turay, Sevim; Tosun, Ayse; Ayanoglu, Muge; Danis, Aysegul; Hanci, Fatma; Kutbay, Yasar Bekir; Ozyilmaz, Berk; Kara, Bulent 分享 收藏 Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disordersArmirola-Ricaurte, Camila; Zonnekein, Noortje; Koutsis, Georgios; Amor-Barris, Silvia; Pelayo-Negro, Ana Lara; Atkinson, Derek; Efthymiou, Stephanie; Turchetti, Valentina; Dinopoulos, Argyris; Garcia, Antonio; Karakaya, Mert; Moris, German; Polat, Ayse Ipek; Yis, Uluc; Espinos, Carmen; Van de Vondel, Liedewei; De Vriendt, Els; Karadima, Georgia; Wirth, Brunhilde; Hanna, Michael; Houlden, Henry; Berciano, Jose; Jordanova, Albena 分享 收藏 分享 收藏 Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter StudyUzan, Gamze Sarikaya; Vural, Atay; Yuksel, Deniz; Aksoy, Erhan; Oztoprak, Ulkuhan; Canpolat, Mehmet; Ozturk, Selcan; Yildirim, Celebi; Gulec, Ayten; Per, Huseyin; Gumus, Hakan; Okuyaz, Cetin; Direk, Meltem Cobanoullari; Kosmur, Mustafa; Unalp, Aycan; Yilmaz, Unsal; Bektas, Omer; Teber, Serap; Aliyeva, Nargiz; Dundar, Nihal Olgac; Gencpinar, Pinar; Gurkas, Esra; Yilmaz, Sanem Keskin; Kanmaz, Seda; Tekgtil, Hasan; Aksoy, Ayse; Tuncer, Gokcen Oz; Arslan, Elif Acar; Tosun, Ayse; Ayanoglu, Muge; Kizilirmak, Ali Burak; Yousefi, Mohammadreza; Bodur, Muhittin; Unay, Bulent; Kurul, Semra Hiz; Yis, Uluc 分享 收藏 Neuromuscular disease genetics in under-represented populations: increasing data diversityWilson, Lindsay A.; Macken, William L.; Perry, Luke D.; Record, Christopher J.; Schon, Katherine; Frezatti, Rodrigo S. S.; Raga, Sharika; Naidu, Kireshnee; Koken, Ozlem Yayici; Polat, Ipek; Kapapa, Musambo M.; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R.; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J. L. F.; Reyaz, Alisha; Mishra, Rinkle; Topf, Ana; Trainor, Christina I.; Steyn, Elizabeth C.; Mahungu, Amokelani C.; van der Vliet, Patrick J.; Ceylan, Ahmet Cevdet; Hiz, A. Semra; Cavdarli, Busranur; Gunduz, C. Nur Semerci; Ceylan, Gulay Gulec; Nagappa, Madhu; Tallapaka, Karthik B.; Govindaraj, Periyasamy; van der Maarel, Silvere M.; Narayanappa, Gayathri; Nandeesh, Bevinahalli N.; Somwe, Somwe Wa; Bearden, David R.; Kvalsund, Michelle P.; Ramdharry, Gita M.; Oktay, Yavuz; Yis, Uluc; Topaloglu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M.; Heckmann, Jeannine M.; McFarland, Robert; Taylor, Robert W.; Smuts, Izelle; van der Westhuizen, Francois H.; da Rosa Sobreira, Claudia Ferreira; Tomaselli, Pedro J.; Marques, Wilson, Jr.; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M. V. Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y.; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F.; Pitceathly, Robert D. S.; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M.; Hanna, Michael G. 分享 收藏 分享 收藏 Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018)Ghosh, Shereen G.; Becker, Kerstin; Huang, He; Salazar, Tracy D.; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K.; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M.; Efthymiou, Stephanie; Hanna, Michael G.; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmuller, Janine; Weixler, Lisa; Nurnberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B.; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M.; Wolf, Nicole I.; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G. 分享 收藏 High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseasesKurul, Semra Hiz; Oktay, Yavuz; Topf, Ana; Szabo, Nora Zs; Gungor, Serdal; Yaramis, Ahmet; Sonmezler, Ece; Matalonga, Leslie; Yis, Uluc; Schon, Katherine; Paramonov, Ida; Kalafatcilar, Ipek Polat; Gao, Fei; Rieger, Aliz; Arslan, Nur; Yilmaz, Elmasnur; Ekinci, Burcu; Edem, Pinar Pulat; Aslan, Mahmut; Ozgor, Bilge; Lochmuller, Angela; Nair, Ashwati; O'Heir, Emily; Lovgren, Alysia K.; Maroofian, Reza; Houlden, Henry; Polavarapu, Kiran; Roos, Andreas; Muller, Juliane S.; Hathazi, Denisa; Chinnery, Patrick F.; Laurie, Steven; Beltran, Sergi; Lochmueller, Hanns; Horvath, Rita 分享 收藏 Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals亚基因不耐受，ClinVar和癫痫: 29,165个人的全外显子组测序研究Motelow, Joshua E.; Povysil, Gundula; Dhindsa, Ryan S.; Stanley, Kate E.; Allen, Andrew S.; Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea E.; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; Neale, Benjamin M.; Cavalleri, Gianpiero L.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slave; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bennett, Caitlin A.; Leu, Costin; Leech, Stephanie L.; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Ali, Quratulain Zulfiqar; Sadoway, Tara R.; Krestel, Heinz; Schaller, Andre; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Christou, Yiolanda; Sterbova, Katalin; Vlckova, Marketa; Sedlackova, Lucie; Lassuthova, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Neubauer, Bernd A.; Zimprich, Friedrich; Feucht, Martha; Reinthaler, Eva M.; Kunz, Wolfram S.; Zsurka, Gabor; Surges, Rainer; Baumgartner, Tobias; von Wrede, Randi; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Muller-Schluter, Karen; Kluger, Gerhard; Haeusler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Lauxmann, Stephan; Bosselmann, Christian; Kegele, Josua; Hengsbach, Christian; Rau, Sarah; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Borggraefe, Ingo; Schankin, Christoph J.; Schubert-Bast, Susanne; Schreiber, Herbert; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Wolff, Markus; Dennig, Dieter; Madeleyn, Rene; Kalviainen, Reetta; Saarela, Anni; Timonen, Oskari; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rheims, Sylvain; Lesca, Gaetan; Ryvlin, Philippe; Maillard, Louis; Valton, Luc; Derambure, Philippe; Bartolomei, Fabrice; Hirsch, Edouard; Michel, Veronique; Chassoux, Francine; Rees, Mark, I; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert; Baker, Mark D.; Fonferko-Shadrach, Beata; Lawthom, Charlotte; Anderson, Joseph; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H. T.; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; El-Naggar, Hany; Widdess-Walsh, Peter; Barisi, Nina; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Ragona, Francesca; Zara, Federico; Iacomino, Michele; Riva, Antonella; Madia, Francesca; Vari, Maria Stella; Salpietro, Vincenzo; Scala, Marcello; Mancardi, Maria Margherita; Nobili, Lino; Amadori, Elisabetta; Giacomini, Thea; Bisulli, Francesca; Pippucci, Tommaso; Licchetta, Laura; Minardi, Raffaella; Tinuper, Paolo; Muccioli, Lorenzo; Mostacci, Barbara; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Barba, Carmen; Hirose, Shinichi; Ishii, Atsushi; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Beydoun, Ahmad; Nasreddine, Wassim; Zgheib, Nathalie Khoueiry; Tumiene, Birute; Utkus, Algirdas; Sadleir, Lynette G.; King, Chontelle; Caglayan, S. Hande; Arslan, Mutluay; Yapici, Zuhal; Topaloglu, Pinar; Kara, Bulent; Yis, Uluc; Turkdogan, Dilsad; Gundogdu-Eken, Asli; Bebek, Nerses; Tsai, Meng-Han; Ho, Chen-Jui; Lin, Chih-Hsiang; Lin, Kuang-Lin; Chou, I-Jun; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Noebels, Jeffrey L.; Goldman, Alicia; Busch, Robyn M.; Jehi, Lara; Najm, Imad M.; Ferguson, Lisa; Khoury, Jean; Glauser, Tracy A.; Clark, Peggy O.; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben, I; Devinsky, Orrin; Hegde, Manu; Greenberg, David A.; Ellis, Colin A.; Goldberg, Ethan; Helbig, Katherine L.; Cosico, Mahgenn; Vaidiswaran, Priya; Fitch, Eryn; Berkovic, Samuel F.; Lerche, Holger; Lowenstein, Daniel H.; Goldstein, David B. 分享 收藏 Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease导致线粒体功能障碍的基因组变异在遗传性下运动神经元疾病中很常见Keller, Natalie; Paketci, Cem; Altmueller, Janine; Fuhrmann, Nico; Wunderlich, Gilbert; Schrank, Bertold; Unver, Olcay; Yilmaz, Sanem; Boostani, Reza; Karimiani, Ehsan Ghayoor; Motameny, Susanne; Thiele, Holger; Nuernberg, Peter; Maroofian, Reza; Yis, Uluc; Wirth, Brunhilde; Karakaya, Mert 分享 收藏 The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical PracticeVural, Atay; Simsir, Gulsah; Tekgul, Seyma; Kocoglu, Cemile; Akcimen, Fulya; Kartal, Ece; Sen, Nesli E.; Lahut, Suna; Omur, Ozgur; Saner, Nazan; Gul, Tugce; Bayraktar, Elif; Palvadeau, Robin; Tunca, Ceren; Cetinkaya, Caroline Pirkevi; Eken, Asli Gundogdu; Sahbaz, Irmak; Koc, Muge Kovancilar; Cakmak, Ozgur Oztop; Hanagasi, Hasmet; Bilgic, Basar; Eraksoy, Mefkure; Gunduz, Aysegul; Apaydin, Hulya; Kiziltan, Gunes; Ozekmekci, Sibel; Siva, Aksel; Altintas, Ayse; Gulec, Zeynep E. Kaya; Parman, Yesim; Oflazer, Piraye; Deymeer, Feza; Durmus, Hacer; Sahin, Erdi; Cakar, Arman; Tufekcioglu, Zeynep; Tekturk, Pinar; Corbali, M. Osman; Tireli, Hulya; Akdal, Gulden; Yis, Uluc; Hiz, Semra; Sengun, Ihsan; Bora, Elcin; Serdaroglu, Gul; Ozbek, Sevda Erer; Agan, Kadriye; Gunal, Dilek Ince; Us, Onder; Kurt, Semiha G.; Aksoy, Durdane; Tokcaer, Ayse Bora; Elmas, Muhsin; Gultekin, Murat; Kumandas, Sefer; Acer, Hamit; Ozcora, Gul D. Kaya; Yayla, Vildan; Soysal, Aysun; Genc, Gencer; Gulluoglu, Halil; Kotan, Dilcan; Ayas, Zeynep Ozozen; Sahin, Huseyin A.; Tan, Ersin; Topcu, Meral; Topcuoglu, Esen Saka; Akbostanci, Cenk; Koc, Filiz; Ertan, Sibel; Elibol, Bulent; Basak, A. Nazli 分享 收藏 Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?Pennisi, Alessandra; Rotig, Agnes; Roux, Charles-Joris; Levy, Raphael; Henneke, Marco; Gartner, Jutta; Kisa, Pelin Teke; Sarioglu, Fatma Ceren; Yis, Uluc; Konczal, Laura L.; Burkardt, Deepika D.; Wu, Sulin; Gaignard, Pauline; Besmond, Claude; Hubert, Laurence; Rio, Marlene; Barcia, Giulia; Munnich, Arnold; Boddaert, Nathalie; Schiff, Manuel 分享 收藏 Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional FamiliesOktay, Yavuz; Gungor, Serdal; Zeltner, Lena; Wiethoff, Sarah; Schoels, Ludger; Sonmezler, Ece; Yilmaz, Elmasnur; Munro, Benjamin; Bender, Benjamin; Kernstock, Christoph; Kaemereit, Sofie; Liepelt, Inga; Topf, Ana; Yis, Uluc; Laurie, Steven; Yaramis, Ahmet; Zuchner, Stephan; Hiz, Semra; Lochmueller, Hanns; Schuele, Rebecca; Horvath, Rita 分享 收藏 Neuroprotective Effects of Lacosamide and Memantine on Hyperoxic Brain Injury in RatsPolat, Ipek; Micili, Serap Cilaker; Calisir, Meryem; Bayram, Erhan; Yis, Uluc; Ayanoglu, Muge; Okur, Derya; Edem, Pnar; Paketci, Cem; Tugyan, Kazim; Yilmaz, Osman; Kurul, Semra Hiz 分享 收藏 Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain- specific mannerOhkawara, Bisei; Shen, XinMing; Selcen, Duygu; Nazim, Mohammad; Bril, Vera; Tarnopolsky, Mark A.; Brady, Lauren; Fukami, Sae; Amato, Anthony A.; Yis, Uluc; Ohno, Kinji; Engel, Andrew G. 分享 收藏 y COL4A1-related autosomal recessive encephalopathy in 2 Turkish childrenYaramis, Ahmet; Lochmueller, Hanns; Topf, Ana; Sonmezler, Ece; Yilmaz, Elmasnur; Hiz, Semra; Yis, Uluc; Gungor, Serdal; Polat, Ayse Ipek; Edem, Pinar; Beltran, Sergi; Laurie, Steven; Yaramis, Aysenur; Horvath, Rita; Oktay, Yavuz 分享 收藏 Severe neurodevelopmental disease caused by a homozygous TLK2 variantTopf, Ana; Oktay, Yavuz; Balaraju, Sunitha; Yilmaz, Elmasnur; Sonmezler, Ece; Yis, Uluc; Laurie, Steven; Thompson, Rachel; Roos, Andreas; MacArthur, Daniel G.; Yaramis, Ahmet; Gungor, Serdal; Lochmueller, Hanns; Hiz, Semra; Horvath, Rita 分享 收藏 
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