未登录 The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice Vural, 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
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Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder Tarlungeanu, Dora C.; Deliu, Elena; Dotter, Christoph P.; Kara, Majdi; Janiesch, Philipp Christoph; Scalise, Mariafrancesca; Galluccio, Michele; Tesulov, Mateja; Morelli, Emanuela; Sonmez, Fatma Mujgan; Bilguvar, Kaya; Ohgaki, Ryuichi; Kanai, Yoshikatsu; Johansen, Anide; Esharif, Seham; Ben-Omran, Tawfeg; Topcu, Meral; Schlessinger, Avner; Indiveri, Cesare; Duncan, Kent E.; Caglayan, Ahmet Okay; Gunel, Murat; Gleeson, Joseph G.; Novarino, Gaia 分享 收藏
Expert opinion on the management of CLN2 disease 关于CLN2疾病管理的专家意见 Schulz, Angela; Adams, Heather R.; Blohm, Martin; Cohen-Pfeffer, Jessica L.; de los Reyes, Emily; Denecke, Jonas; Drago, Kristen; Fairhurst, Charlie; Frazier, Margie; Guelbert, Norberto; Kiss, Szilard; Kofler, Annamaria; Lawson, John; Lehwald, Lenora; Leung, Mary-Anne; Mikhailova, Svetlana; Mink, Jonathan W.; Nickel, Miriam; Shediac, Renee; Sims, Katherine; Specchio, Nicola; Topcu, Meral; von Loebbecke, Ina; West, Andrea; Williams, Ruth E. 分享 收藏
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity Bachmann-Gagescu, R.; Dempsey, J. C.; Phelps, I. G.; O'Roak, B. J.; Knutzen, D. M.; Rue, T. C.; Ishak, G. E.; Isabella, C. R.; Gorden, N.; Adkins, J.; Boyle, E. A.; de Lacy, N.; O'Day, D.; Alswaid, A.; Ramadevi, Radha A.; Lingappa, L.; Lourenco, C.; Martorell, L.; Garcia-Cazorla, A.; Ozyurek, H.; Haliloglu, G.; Tuysuz, B.; Topcu, M.; Chance, P.; Parisi, M. A.; Glass, I. A.; Shendure, J.; Doherty, D. 分享 收藏
Somatic Mutations in Cerebral Cortical Malformations Jamuar, Saumya S.; Lam, Anh-Thu N.; Kircher, Martin; D'Gama, Alissa M.; Wang, Jian; Barry, Brenda J.; Zhang, Xiaochang; Hill, Robert Sean; Partlow, Jennifer N.; Rozzo, Aldo; Servattalab, Sarah; Mehta, Bhaven K.; Topcu, Meral; Amrom, Dina; Andermann, Eva; Dan, Bernard; Parrini, Elena; Guerrini, Renzo; Scheffer, Ingrid E.; Berkovic, Samuel F.; Leventer, Richard J.; Shen, Yiping; Wu, Bai Lin; Barkovich, A. James; Sahin, Mustafa; Chang, Bernard S.; Bamshad, Michael; Nickerson, Deborah A.; Shendure, Jay; Poduri, Annapurna; Yu, Timothy W.; Walsh, Christopher A. 分享 收藏
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy (vol 94, pg 62, 2014) Tuz, Karina; Bachmann-Gagescu, Ruxandra; O'Day, Diana R.; Hua, Kiet; Isabella, Christine R.; Phelps, Ian G.; Stolarski, Allan E.; O'Roak, Brian J.; Dempsey, Jennifer C.; Lourenco, Charles; Alswaid, Abdulrahman; Boennemann, Carsten G.; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J.; Topcu, Meral; Cansu, Au; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E.; Glass, Ian A.; Shendure, Jay; Neuhauss, Stephan C. F.; Haldeman-Englert, Chad R.; Doherty, Dan; Ferland, Russell J. 分享 收藏
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy Tuz, Karma; Bachmann-Gagescu, Ruxandra; O'Day, Diana R.; Hua, Kiet; Isabella, Christine R.; Phelps, Ian G.; Stolarski, Allan E.; O'Roak, Brian J.; Dempsey, Jennifer C.; Lourenco, Charles; Alswaid, Abdulrahman; Boennemann, Carsten G.; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J.; Topcu, Meral; Cansu, Ali; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E.; Glass, Ian A.; Shendure, Jay; Neuhauss, Stephan C. F.; Haldeman-Englert, Chad R.; Doherty, Dan; Ferland, Russell J. 分享 收藏
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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture Yu, Timothy W.; Mochida, Ganeshwaran H.; Tischfield, David J.; Sgaier, Sema K.; Flores-Sarnat, Laura; Sergi, Consolato M.; Topcu, Meral; McDonald, Marie T.; Barry, Brenda J.; Felie, Jillian M.; Sunu, Christine; Dobyns, William B.; Folkerth, Rebecca D.; Barkovich, A. James; Walsh, Christopher A. 分享 收藏
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair Shen, Jun; Gilmore, Edward C.; Marshall, Christine A.; Haddadin, Mary; Reynolds, John J.; Eyaid, Wafaa; Bodell, Adria; Barry, Brenda; Gleason, Danielle; Allen, Kathryn; Ganesh, Vijay S.; Chang, Bernard S.; Grix, Arthur; Hill, R. Sean; Topcu, Meral; Caldecott, Keith W.; Barkovich, A. James; Walsh, Christopher A. 分享 收藏
CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290 Gorden, Nicholas T.; Arts, Heleen H.; Parisi, Melissa A.; Coene, Karlien L. M.; Letteboer, Stef J. F.; van Beersum, Sylvia E. C.; Mans, Dorus A.; Hikida, Abigail; Eckert, Melissa; Knutzen, Dana; Alswaid, Abdulrahman F.; Ozyurek, Hamit; Dibooglu, Sel; Otto, Edgar A.; Liu, Yangfan; Davis, Erica E.; Hutter, Carolyn M.; Bammler, Theo K.; Farin, Frederico M.; Dorschner, Michael; Topcu, Meral; Zackai, Elaine H.; Rosenthal, Phillip; Owens, Kelly N.; Katsanis, Nicholas; Vincent, John B.; Hildebrandt, Friedhelm; Rubel, Edwin W.; Raible, David W.; Knoers, Nine V. A. M.; Chance, Phillip F.; Roepman, Ronald; Moens, Cecilia B.; Glass, Ian A.; Doherty, Dan 分享 收藏
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes 人类额叶多微综合征的基因型-表型分析 Piao, XH; Chang, BS; Bodell, A; Woods, K; BenZeev, B; Topcu, M; Guerrini, R; Goldberg-Stern, H; Sztriha, L; Dobyns, WB; Barkovich, AJ; Walsh, CA 分享 收藏
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Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome (vol 36, pg 1008, 2004) Ferland, RJ; Eyaid, W; Collura, RV; Tully, LD; Hill, RS; Al-Nouri, D; Al-Rumayyan, A; Topcu, M; Gascon, G; Bodell, A; Shugart, YY; Ruvolo, M; Walsh, CA 分享 收藏
L-2-hydroxyglutaric aciduria:: identification of a mutant gene C14orf160, localized on chromosome 14q22.1 Topçu, M; Jobard, F; Halliez, S; Coskun, T; Yalçinkayal, C; Gerceker, FO; Wanders, RJA; Prud'homme, JF; Lathrop, M; Özguc, M; Fischer, J 分享 收藏
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome Ferland, RJ; Eyaid, W; Collura, RV; Tully, LD; Hill, RS; Al-Nouri, D; Al-Rumayyan, A; Topcu, M; Gascon, G; Bodell, A; Shugart, YY; Ruvolo, M; Walsh, CA 分享 收藏
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C:: Implications for other inborn errors of metabolism Gootjes, J; Schmohl, F; Mooijer, PAW; Dekker, C; Mandel, H; Topcu, M; Huemer, M; von Schütz, M; Marquardt, T; Smeitink, JA; Waterham, HR; Wanders, RJA 分享 收藏
Bilateral generalized polymicrogyria (BGP) - A distinct syndrome of cortical malformation Chang, BS; Piao, X; Giannini, C; Cascino, GD; Scheffer, I; Woods, CG; Topcu, M; Tezcan, K; Bodell, A; Leventer, RJ; Barkovich, AJ; Grant, PE; Walsh, CA 分享 收藏
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