학술논문
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'학술논문'
에서 검색결과 103건 | 목록
1~20
Academic Journal
Cuccurullo Claudia; Emanuele Cerulli Irelli; Ugga Lorenzo; Riva, Antonella; D'Amico, Alessandra; Cabet, Sara; Lesca, Gaetan; Bilo, Leonilda; Zara, Federico; Iliescu, Catrinel; Barca, Diana; Fung, France; Helbig, Katherine; Ortiz‐Gonzalez, Xilma; Schelhaas, Helenius J.; Willemsen, Marjolein H.; van der Linden, Inge; Canafoglia, Laura; Courage, Carolina; Gommaraschi, Samuele; Gonzalez‐Alegre, Pedro; Bardakjian, Tanya; Syrbe, Steffen; Schuler, Elisabeth; Lemke, Johannes R.; Vari, Stella; Roende, Gitte; Bak, Mads; Huq, Mahbulul; Powis, Zoe; Johannesen, Katrine M.; Hammer, Trine Bjørg; Møller, Rikke S.; Rabin, Rachel; Pappas, John; Zupanc, Mary L.; Zadeh, Neda; Cohen, Julie; Naidu, Sakkubai; Krey, Ilona; Saneto, Russell; Thies, Jenny; Licchetta, Laura; Tinuper, Paolo; Bisulli, Francesca; Minardi, Raffaella; Bayat, Allan; Villeneuve, Nathalie; Molinari, Florence; Salimi Dafsari, Hormos; Moller, Birk; Leundefined; Roux, Marie; Houdayer, Clara; Vecchi, Marilena; Mammi, Isabella; Fiorini, Elena; Proietti, Jacopo; Ferri, Sofia; Cantalupo, Gaetano; Battaglia, Domenica Immacolata; Gambardella, Maria Luigia; Contaldo, Ilaria; Brogna, Claudia; Trivisano, Marina; Deundefined; Dominicis, Angela; Bova, Stefania Maria; Gardella, Elena; Striano, Pasquale; Coppola, Antonietta
Epilepsia, 65, 9, pp. 2728-2750
Academic Journal
Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y.; Silva, Ana P. G.; Lee, Hane; Douine, Emilie D.; Otero, Maria G.; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P.; Delgado, Mauricio R.; Hajianpour, M. J.; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W.; Vergano, Samantha A.; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E.; Challman, Thomas D.; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J.; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D. M.; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A.; Hurst, Jane; Fitzpatrick, David R.; Morton, Jenny E. V.; Cox, Helen; Venkateswaran, Sunita; Young, Juan I.; Marsh, Eric D.; Nelson, Stanley F.; Martinez, Julian A.; Graham, Jr, John M.; Kini, Usha; Mackay, Joel P.; Pierson, Tyler Mark
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(5):878-888
Academic Journal
Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M.L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Krageloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Moron, Dolores Gonzalez; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; Piana, Roberta La; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I.; Moutton, Sebastien; Murphy, Raymond P.J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P.; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I.; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S.; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole I.; Bernard, Genevieve
Journal of Clinical Endocrinology & Metabolism. February, 2021, Vol. 106 Issue 2, pe660, 15 p.
Academic Journal
Emma M Jenkinson; Mathieu P Rodero; Paul R Kasher; Carolina Uggenti; Anthony Oojageer; Laurence C Goosey; Yoann Rose; Christopher J Kershaw; Jill E Urquhart; Simon G Williams; Sanjeev S Bhaskar; James O'Sullivan; Gabriela M Baerlocher; Monika Haubitz; Geraldine Aubert; Kristin W Barañano; Angela J Barnicoat; Roberta Battini; Andrea Berger; Edward M Blair; Janice E Brunstrom-Hernandez; Johannes A Buckard; David M Cassiman; Rosaline Caumes; Duccio M Cordelli; Liesbeth M De Waele; Alexander J Fay; Patrick Ferreira; Nicholas A Fletcher; Alan E Fryer; Himanshu Goel; Cheryl A Hemingway; Marco Henneke; Imelda Hughes; Rosalind J Jefferson; Ram Kumar; Lieven Lagae; Pierre G Landrieu; Charles M Lourenço; Timothy J Malpas; Sarju G Mehta; Imke Metz; Sakkubai Naidu; Katrin Õunap; Axel Panzer; Prab Prabhakar; Gerardine Quaghebeur; Raphael Schiffmann; Elliott H Sherr; Kanaga R Sinnathuray; Calvin Soh; Helen S Stewart; John Stone; Hilde Van Esch; Christine E G Van Mol; Adeline Vanderver; Emma L Wakeling; Andrea Whitney; Graham D Pavitt; Sam Griffiths-Jones; Gillian I Rice; Patrick Revy; Marjo S van der Knaap; John H Livingston; Raymond T O'Keefe; Yanick J Crow
Nat Genet
Jenkinson, E M, Rodero, M P, Kasher, PR , Uggenti, C, Oojageer, A, Goosey, L C, Rose, Y, Kershaw, C J, Urquhart, J E, Williams, S G, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Baranano, K W, Barnicoat, A J, Battini, R , Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R , Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R , Lagae, L, Landrieu, P G, Lourenco, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu , S, Ounap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R , Sherr, E H, Sinnathuray, K R , Soh, C, Stewart, H S, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G D, Griffiths-Jones, S, Rice, G I, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R T & Crow, Y J 2016, 'Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts', Nature Genetics, vol. 48, no. 10, pp. 1185-1192. https://doi.org/10.1038/ng.3661
Jenkinson, E, Rodero, M P, Kasher, P, Uggenti, C, Oojageer, A, Goosey, L, Rose, Y, Urquhart, J, Williams, S, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Barañano, K W, Barnicoat, A J, Battini,R , Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R , Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R , Lagae, L, Landrieu, P G, Lourenço, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu , S, Õunap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R , Sherr, E H, Sinnathuray, K R , Soh, C, Stewart, H, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G, Griffiths-Jones, S, Rice, G, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R , Crow, Y & Kershaw, C 2016, 'Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts', Nature Genetics, vol. 48, no. 10, pp. 1185–1192. https://doi.org/10.1038/ng.3661
Jenkinson, E M, Rodero, M P, Kasher, P
Jenkinson, E, Rodero, M P, Kasher, P, Uggenti, C, Oojageer, A, Goosey, L, Rose, Y, Urquhart, J, Williams, S, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Barañano, K W, Barnicoat, A J, Battini,
Academic Journal
Hyung-Goo Kim; Jill A. Rosenfeld; Daryl A. Scott; Gerard Bénédicte; Jonathan D. Labonne; Jason Brown; Marianne McGuire; Sonal Mahida; Sakkubai Naidu; Jacqueline Gutierrez; Gaetan Lesca; Vincent des Portes; Ange-Line Bruel; Arthur Sorlin; Fan Xia; Yline Capri; Eric Muller; Dianalee McKnight; Erin Torti; Franz Rüschendorf; Oliver Hummel; Zeyaul Islam; Prasanna R. Kolatkar; Lawrence C. Layman; Duchwan Ryu; Il-Keun Kong; Suneeta Madan-Khetarpal; Cheol-Hee Kim
Molecular Autism, Vol 10, Iss 1, Pp 1-15 (2019)
Academic Journal
Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Them, Frédéric; Denommé-Pichon, Anne-Sophie; Coubes, Christine; Larson, Austin; Esser, Michael J.; Appendino, Juan Pablo; Al-Hertani, Walla; Gamboni, Beatriz; Mampel, Alejandra; Mayorga, Lía; Orsini, Alessandro; Bonuccelli, Alice; Suppiej, Agnese; Van-Gils, Julien; Vogt, Julie; Damioli, Simona; Giordano, Lucio; Moortgat, Stephanie; Wirrell, Elaine; Hicks, Sarah; Kini, Usha; Noble, Nathan; Stewart, Helen; Asakar, Shailesh; Cohen, Julie S.; Naidu, SakkuBai R.; Collier, Ashley; Brilstra, Eva H.; Li, Mindy H.; Brew, Casey; Bigoni, Stefania; Ognibene, Davide; Ballardini, Elisa; Ruivenkamp, Claudia; Faggioli, Raffaella; Afenjar, Alexandra; Rodriguez, Diana; Bick, David; Segal, Devorah; Coman, David; Gunning, Boudewijn; Devinsky, Orrin; Demmer, Laurie A.; Grebe, Theresa; Pruna, Dario; Cursio, Ida; Greenhalgh, Lynn; Graziano, Claudio; Singh, Rahul Raman; Cantalupo, Gaetano; Willems, Marjolaine; Yoganathan, Sangeetha; Góes, Fernanda; Leventer, Richard J.; Colavito, Davide; Olivotto, Sara; Scelsa, Barbara; Andrade, Andrea V.; Ratke, Kelly; Tokarz, Farha; Khan, Atiya S.; Ormieres, Clothilde; Benko, William; Keough, Karen; Keros, Sotirios; Hussain, Shanawaz; Franques, Ashlea; Varsalone, Felicia; Grønborg, Sabine; Mignot, Cyril; Heron, Delphine; Nava, Caroline; Isapof, Arnaud; Borlot, Felippe; Whitney, Robyn; Ronan, Anne; Foulds, Nicola; Somorai, Marta; Brandsema, John; Helbig, Katherine L.; Helbig, Ingo; Ortiz-González, Xilma R.; Dubbs, Holly; Vitobello, Antonio; Anderson, Mel; Spadafore, Dominic; Hunt, David; Møller, Rikke S.; Rubboli, Guido
Neurology: Genetics. Dec 01, 2021 7(6):e613-e613
Academic Journal
Wong, Dean F.; Harris, James C.; Naidu, Sakkubai; Yokoi, Fuji; Marenco, Stefano; Dannals, Robert F.; Ravert, Hayden T.; Yaster, Myron; Evans, Alan; Rousset, Olivier; Bryan, R. Nick; Gjedde, Albert; Kuhar, Michael J.; Breese, George R.
Proceedings of the National Academy of Sciences of the United States of America, 1996 May . 93(11), 5539-5543.
Academic Journal
Jane Crosson; Siddharth Srivastava; Genila M. Bibat; Siddharth Gupta; Aditi Kantipuly; Constance Smith‐Hicks; Scott M. Myers; Abanti Sanyal; Gayane Yenokyan; Joel Brenner; Sakkubai R. Naidu
American Journal of Medical Genetics Part A. 173:1495-1501
Academic Journal
Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y; Silva, Ana PG; Lee, Hane; Douine, Emilie D; Otero, Maria G; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P; Delgado, Mauricio R; Hajianpour, MJ; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W; Vergano, Samantha A; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E; Challman, Thomas D; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren DM; Network, The Undiagnosed Diseases; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A; Hurst, Jane; Fitzpatrick, David R; Morton, Jenny EV; Cox, Helen; Venkateswaran, Sunita; Young, Juan I; Marsh, Eric D; Nelson, Stanley F; Martinez, Julian A; Graham, John M; Kini, Usha; Mackay, Joel P; Pierson, Tyler Mark
Genetics in Medicine, vol 22, iss 5
Academic Journal
Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y; Silva, Ana PG; Lee, Hane; Douine, Emilie D; Otero, Maria G; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P; Delgado, Mauricio R; Hajianpour, MJ; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W; Vergano, Samantha A; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E; Challman, Thomas D; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren DM; Network, The Undiagnosed Diseases; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A; Hurst, Jane; Fitzpatrick, David R; Morton, Jenny EV; Cox, Helen; Venkateswaran, Sunita; Young, Juan I; Marsh, Eric D; Nelson, Stanley F; Martinez, Julian A; Graham, John M; Kini, Usha; Mackay, Joel P; Pierson, Tyler Mark
Genetics in Medicine, vol 22, iss 4
Academic Journal
Anderson, Beverley; Kasher, Paul R.; Mayer, Josephine; Szynkiewicz, Marcin; Jenkinson, Emma M.; Bhaskar, Sanjeev S.; Urquhart, Jill E.; Daly, Sarah B.; Dickerson, Jonathan E.; O'Sullivan, James; Leibundgut, Elisabeth Oppliger; Muter, Joanne; Abdel-Salem, Ghada M H; Babul-Hirji, Riyana; Baxter, Peter; Berger, Andrea; Bonafé, Luisa; Brunstom-Hernandez, Janice E.; Buckard, Johannes A.; Chitayat, David; Chong, Wui K.; Cordelli, Duccio M.; Ferreira, Patrick; Fluss, Joel; Forrest, Ewan H.; Franzoni, Emilio; Garone, Caterina; Hammans, Simon R.; Houge, Gunnar; Hughes, Imelda; Jacquemont, Sebastien; Jeannet, Pierre Yves; Jefferson, Rosalind J.; Kumar, Ram; Kutschke, Georg; Lundberg, Staffan; Loureno, Charles M.; Mehta, Ramesh; Naidu, Sakkubai; Nischal, Ken K.; Nunes, Luís; Ounap, Katrin; Philippart, Michel; Prabhakar, Prab; Risen, Sarah R.; Schiffmann, Raphael; Soh, Calvin; Stephenson, John B P; Stewart, Helen; Stone, Jon; Tolmie, John L.; Van Der Knaap, Marjo S.; Vieira, Jose P.; Vilain, Catheline N.; Wakeling, Emma L.; Wermenbol, Vanessa; Whitney, Andrea; Lovell, Simon C.; Meyer, Stefan; Livingston, John H.; Baerlocher, Gabriela M.; Black, Graeme C M; Rice, Gillian I.; Yanick, J.; Lourenço, Charles M
Anderson, B H, Kasher, P R , Mayer, J, Szynkiewicz, M, Jenkinson, E M, Bhaskar, S S, Urquhart, J E, Daly, S B, Dickerson, J E, O'Sullivan, J, Leibundgut, E O, Muter, J, Abdel-Salem, G M H, Babul-Hirji, R , Baxter, P, Berger, A, Bonafe, L, Brunstom-Hernandez, J E, Buckard, J A, Chitayat, D, Chong, W K, Cordelli, D M, Ferreira, P, Fluss, J, Forrest, E H, Franzoni, E, Garone, C, Hammans, S R , Houge, G, Hughes, I, Jacquemont, S, Jeannet, P Y, Jefferson, R J, Kumar, R , Kutschke, G, Lundberg, S, Lourenco, C M, Mehta, R , Naidu , S, Nischal, K K, Nunes, L, Ounap, K, Philippart, M, Prabhakar, P, Risen, S R , Schiffmann, R , Soh, C, Stephenson, J B P, Stewart, H, Stone, J, Tolmie, J L, van der Knaap, M S, Vieira, J P, Vilain, C N, Wakeling, E L, Wermenbol, V, Whitney, A, Lovell, S C, Meyer, S, Livingston, J H, Baerlocher, G M, Black, G C M, Rice, G I & Crow, Y J 2012, 'Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus', Nature Genetics, vol. 44, no. 3, pp. 338-U1604. https://doi.org/10.1038/ng.1084
Nature Genetics, Vol. 44, No 3 (2012) pp. 338-42
Anderson, B, Kasher, PR , Mayer, J, Szynkiewicz, M, Jenkinson, E M, Bhaskar, S S, Urquhart, J E, Daly, S B, Dickerson, J E, O'Sullivan, J, Leibundgut, E O, Muter, J, Abdel-Salem, G M H, Babul-Hirji, R , Baxter, P, Berger, A, Bonafé, L, Brunstom-Hernandez, J E, Buckard, J A, Chitayat, D, Chong, W K, Cordelli, D M, Ferreira, P, Fluss, J, Forrest, E H, Franzoni, E, Garone, C, Hammans, S R , Houge, G, Hughes, I, Jacquemont, S, Jeannet, P Y, Jefferson, R J, Kumar, R , Kutschke, G, Lundberg, S, Loureno, C M, Mehta, R , Naidu , S, Nischal, K K, Nunes, L, Ounap, K, Philippart, M, Prabhakar, P, Risen, S R , Schiffmann, R , Soh, C, Stephenson, J B P, Stewart, H, Stone, J, Tolmie, J L, Van Der Knaap, M S, Vieira, J P, Vilain, C N, Wakeling, E L, Wermenbol, V, Whitney, A, Lovell, S C, Meyer, S, Livingston, J H, Baerlocher, G M, Black, G C M, Rice, G I, Yanick, J & Lourenço, C M 2012, 'Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus', Nature Genetics, vol. 44, no. 3, pp. 338-342. https://doi.org/10.1038/ng.1084
Nature Genetics, Vol. 44, No 3 (2012) pp. 338-42
Anderson, B, Kasher, P
Academic Journal
Deepali, Jain; Kamaljeet, Singh; Sankar, Chirumamilla; Genila M, Bibat; Mary E, Blue; Sakkubai R, Naidu; Charles G, Eberhart
Pediatric Neurology. 43:35-40
Academic Journal
Delanne, Julian; Lecat, Magaly; Blackburn, Patrick R.; Klee, Eric W.; Stumpel, Constance T.R.M.; Stegmann, Sander; Stevens, Servi J.C.; Nava, Caroline; Heron, Delphine; Keren, Boris; Mahida, Sonal; Naidu, Sakkubai; Babovic-Vuksanovic, Dusica; Herkert, Johanna C.; Torring, Pernille M.; Kibæk, Maria; De Bie, Isabelle; Pfundt, Rolph; Hendriks, Yvonne M.C.; Ousager, Lilian Bomme; Bend, Renee; Warren, Hannah; Skinner, Steven A.; Lyons, Michael J.; Pöe, Charlotte; Chevarin, Martin; Jouan, Thibaud; Garde, Aurore; Thomas, Quentin; Kuentz, Paul; Tisserant, Emilie; Duffourd, Yannis; Philippe, Christophe; Faivre, Laurence; Thauvin-Robinet, Christel
European Journal of Medical Genetics. 66(1)
Academic Journal
Li, Rong; Johnson, Anne B.; Salomons, Gajja; Goldman, James E.; Naidu, Sakkubai; Quinlan, Roy; Cree, Bruce; Ruyle, Stephanie Z.; Banwell, Brenda; D'Hooghe, Marc; Siebert, Joseph R.; Rolf, Cristin M.; Cox, Helen; Reddy, Alyssa; Gutierrez-Solana, Luis Gonzalez; Collins, Amanda; Weller, Roy O.; Messing, Albee; van der Knaap, Marjo S.; Brenner, Michael
Li, R , Johnson, A B, Salomons, G, Goldman, J E, Naidu , S, Quinlan, R , Cree, B, Ruyle, S Z, Banwell, B, D'Hooghe, M, Siebert, J R , Rolf, C M, Cox, H, Reddy, A, Gutiérrez-Solana, L G, Collins, A, Weller, R O, Messing, A, Van Der Knaap, M S & Brenner, M 2005, 'Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease', Annals of Neurology, vol. 57, no. 3, pp. 310-326. https://doi.org/10.1002/ana.20406
Academic Journal
de Kovel, Carolien G. F.; Syrbe, Steffen; Brilstra, Eva H.; Verbeek, Nienke; Kerr, Bronwyn; Dubbs, Holly; Bayat, Allan; Desai, Sonal; Naidu, Sakkubai; Srivastava, Siddharth; Cagaylan, Hande; Yis, Uluc; Saunders, Carol; Rook, Martin; Plugge, Susanna; Muhle, Hiltrud; Afawi, Zaid; Klein, Karl-Martin; Jayaraman, Vijayakumar; Rajagopalan, Ramakrishnan; Goldberg, Ethan; Marsh, Eric; Kessler, Sudha; Bergqvist, Christina; Conlin, Laura K.; Krok, Bryan L.; Thiffault, Isabelle; Pendziwiat, Manuela; Helbig, Ingo; Polster, Tilman; Borggraefe, Ingo; Lemke, Johannes R.; van den Boogaardt, Marie-José; Møller, Rikke S.; Koeleman, Bobby P. C.
JAMA Neurology. Oct 01, 2017 74(10):1228-1236
Academic Journal
Leegwater, Peter A.J.; Vermeulen, Gerre; Könst, Andrea A.M.; Naidu, Sakkubai; Mulders, Joyce; Visser, Allerdien; Kersbergen, Paula; Mobach, Dragosh; Fonds, Dafna; Van Berkel, Carola G.M.; Lemmers, Richard J.L.F.; Frants, Rune R.; Oudejans, Cees B.M.; Schutgens, Ruud B.H.; Pronk, Jan C.; Van der Knaap, Marjo S.
Leegwater, P A J, Vermeulen, G, Könst, A A M, Naidu , S, Mulders, J, Visser, A, Kersbergen, P, Mobach, D, Fonds, D, Van Berkel, C G M, Lemmers, R J L F, Frants, R R , Oudejans, C B M, Schutgens, R B H, Pronk, J C & Van der Knaap, M S 2001, 'Subunits of the translation initiation factor elF2B are mutant in leukoencephalopathy with vanishing white matter', Nature Genetics, vol. 29, no. 4, pp. 383-388. https://doi.org/10.1038/ng764
Academic Journal
Kates, Wendy R.; Warsofsky, Ilana S.; Patwardhan, Anil; Abrams, Michael T.; Liu, Alex M.C.; Naidu, SakkuBai; Kaufmann, Walter E.; Reiss, Allan L.
Psychiatry Research: Neuroimaging. 91(1):11-30
Academic Journal
Wong, Dean F. ; Blue, Mary E. ; Brašić, James R. ; Nandi, Ayon ; Valentine, Heather ; Stansfield, Kirstie H. ; Rousset, Olivier ; Bibat, Genila ; Yablonski, Mary E. ; Johnston, Michael V. ; Gjedde, Albert ; Naidu, SakkuBai
In Experimental Neurology September 2018 307:74-81
Academic Journal
Torkamani, Ali; Bersell, Kevin; Jorge, Benjamin S.; Bjork, Robert L., Jr; Friedman, Jennifer R.; Bloss, Cinnamon S.; Cohen, Julie; Gupta, Siddharth; Naidu, Sakkubai; Vanoye, Carlos G.; George, Alfred L., Jr; Kearney, Jennifer A.
Annals of Neurology. Oct 01, 2014 76(4):529-540
Academic Journal
Cheng, Hanyin ; Dharmadhikari, Avinash V. ; Varland, Sylvia ; Ma, Ning ; Domingo, Deepti ; Kleyner, Robert ; Rope, Alan F. ; Yoon, Margaret ; Stray-Pedersen, Asbjørg ; Posey, Jennifer E. ; Crews, Sarah R. ; Eldomery, Mohammad K. ; Akdemir, Zeynep Coban ; Lewis, Andrea M. ; Sutton, Vernon R. ; Rosenfeld, Jill A. ; Conboy, Erin ; Agre, Katherine ; Xia, Fan ; Walkiewicz, Magdalena ; Longoni, Mauro ; High, Frances A. ; van Slegtenhorst, Marjon A. ; Mancini, Grazia M.S. ; Finnila, Candice R. ; van Haeringen, Arie ; den Hollander, Nicolette ; Ruivenkamp, Claudia ; Naidu, Sakkubai ; Mahida, Sonal ; Palmer, Elizabeth E. ; Murray, Lucinda ; Lim, Derek ; Jayakar, Parul ; Parker, Michael J. ; Giusto, Stefania ; Stracuzzi, Emanuela ; Romano, Corrado ; Beighley, Jennifer S. ; Bernier, Raphael A. ; Küry, Sébastien ; Nizon, Mathilde ; Corbett, Mark A. ; Shaw, Marie ; Gardner, Alison ; Barnett, Christopher ; Armstrong, Ruth ; Kassahn, Karin S. ; Van Dijck, Anke ; Vandeweyer, Geert ; Kleefstra, Tjitske ; Schieving, Jolanda ; Jongmans, Marjolijn J. ; de Vries, Bert B.A. ; Pfundt, Rolph ; Kerr, Bronwyn ; Rojas, Samantha K. ; Boycott, Kym M. ; Person, Richard ; Willaert, Rebecca ; Eichler, Evan E. ; Kooy, R. Frank ; Yang, Yaping ; Wu, Joseph C. ; Lupski, James R. ; Arnesen, Thomas ; Cooper, Gregory M. ; Chung, Wendy K. ; Gecz, Jozef ; Stessman, Holly A.F. ; Meng, Linyan ; Lyon, Gholson J.
In The American Journal of Human Genetics 3 May 2018 102(5):985-994
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