Learning from conect4children: A Collaborative Approach towards Standardisation of Disease-Specific Paediatric Research Data
Sen, Anando, Hedley, Victoria, Degraeuwe, Eva, Hirschfeld, Steven, Cornet, Ronald, Walls, Ramona, Owen, John, Robinson, Peter N, Neilan, Edward G, Liener, Thomas, Nisato, Giovanni, Modi, Neena, Woodworth, Simon, Palmeri, Avril, Gaentzsch, Ricarda, Walsh, Melissa, Berkery, Teresa, Lee, Joanne, Persijn, Laura, Baker, Kasey, An Haack, Kristina, Segovia Simon, Sonia, Jacobsen, Julius O. B, Reggiardo, Giorgio, Kirwin, Melissa A, Trueman, Jessie, Pansieri, Claudia, Bonifazi, Donato, Nally, Sinéad, Bonifazi, Fedele, Leary, Rebecca, Straub, Volker
Published in Data (Basel) (01.04.2024)
Published in Data (Basel) (01.04.2024)
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Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair
Zhang, Xue, Horibata, Katsuyoshi, Saijo, Masafumi, Ishigami, Chie, Ukai, Akiko, Kanno, Shin-ichiro, Tahara, Hidetoshi, Neilan, Edward G, Honma, Masamitsu, Nohmi, Takehiko, Yasui, Akira, Tanaka, Kiyoji
Published in Nature genetics (01.05.2012)
Published in Nature genetics (01.05.2012)
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A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
Burton, Barbara K, Balwani, Manisha, Feillet, François, Barić, Ivo, Burrow, T. Andrew, Camarena Grande, Carmen, Coker, Mahmut, Consuelo-Sánchez, Alejandra, Deegan, Patrick, Di Rocco, Maja, Enns, Gregory M, Erbe, Richard, Ezgu, Fatih, Ficicioglu, Can, Furuya, Katryn N, Kane, John, Laukaitis, Christina, Mengel, Eugen, Neilan, Edward G, Nightingale, Scott, Peters, Heidi, Scarpa, Maurizio, Schwab, K. Otfried, Smolka, Vratislav, Valayannopoulos, Vassili, Wood, Marnie, Goodman, Zachary, Yang, Yijun, Eckert, Stephen, Rojas-Caro, Sandra, Quinn, Anthony G
Published in The New England journal of medicine (10.09.2015)
Published in The New England journal of medicine (10.09.2015)
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The Bespoke Gene Therapy Consortium: facilitating development of AAV gene therapies for rare diseases
Brooks, P. J., Miller, Timothy M., Revah, Frédéric, Suh, Junghae, Garrison, Bradley R., Starke, Lawrence C., MacLachlan, Timothy K., Neilan, Edward G., Raychaudhuri, Gopa, Kassim, Sadik H., Dehdashti, Jean, Rutter, Joni L.
Published in Nature reviews. Drug discovery (01.03.2024)
Published in Nature reviews. Drug discovery (01.03.2024)
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Journal Article
Two Cockayne Syndrome patients with a novel splice site mutation – clinical and metabolic analyses
Sanchez-Roman, Ines, Lautrup, Sofie, Aamann, Maria Diget, Neilan, Edward G., Østergaard, John R., Stevnsner, Tinna
Published in Mechanisms of ageing and development (01.10.2018)
Published in Mechanisms of ageing and development (01.10.2018)
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Journal Article
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
Poduri, Annapurna, Chopra, Sameer S., Neilan, Edward G., Christina Elhosary, P., Kurian, Manju A., Meyer, Esther, Barry, Brenda J., Khwaja, Omar S., Salih, Mustafa A. M., Stödberg, Tommy, Scheffer, Ingrid E., Maher, Eamonn R., Sahin, Mustafa, Wu, Bai-Lin, Berry, Gerard T., Walsh, Christopher A., Picker, Jonathan, Kothare, Sanjeev V.
Published in Epilepsia (Copenhagen) (01.08.2012)
Published in Epilepsia (Copenhagen) (01.08.2012)
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Journal Article
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
Kimonis, Virginia. E., Mehta, Sarju G., Fulchiero, Erin C., Thomasova, Dana, Pasquali, Marzia, Boycott, Kym, Neilan, Edward G., Kartashov, Alex, Forman, Mark S., Tucker, Stuart, Kimonis, Katerina, Mumm, Steven, Whyte, Michael P., Smith, Charles D., Watts, Giles D. J.
Published in American journal of medical genetics. Part A (15.03.2008)
Published in American journal of medical genetics. Part A (15.03.2008)
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Journal Article
Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation
Wessel, Ann E, Mogensen, Kris M, Rohr, Frances, Erick, Miriam, Neilan, Edward G, Chopra, Sameer, Levy, Harvey L, Gray, Kathryn J, Wilkins-Haug, Louise, Berry, Gerard T
Published in JPEN. Journal of parenteral and enteral nutrition (01.09.2015)
Published in JPEN. Journal of parenteral and enteral nutrition (01.09.2015)
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Journal Article
Response of Motor Complications in Cockayne Syndrome to Carbidopa-Levodopa
Neilan, Edward G, Delgado, Mauricio R, Donovan, Melissa A, Kim, Sara Y, Jou, Rita L, Wu, Bai-Lin, Kang, Peter B
Published in Archives of neurology (Chicago) (01.08.2008)
Published in Archives of neurology (Chicago) (01.08.2008)
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Journal Article
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants
Morton, Sarah U., Neilan, Edward G., Peake, Roy W. A., Shi, Jiahai, Schmitz-Abe, Klaus, Towne, Meghan, Markianos, Kyriacos, Prabhu, Sanjay P., Agrawal, Pankaj B.
Published in JIMD Reports, Volume 35 (01.01.2017)
Published in JIMD Reports, Volume 35 (01.01.2017)
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Book Chapter
Journal Article
Gene trap insertional mutagenesis in mice : New vectors and germ Line mutations in two novel genes
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Conference Proceeding
Journal Article
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
Kimonis, Virginia. E., Mehta, Sarju G., Fulchiero, Erin C., Thomasova, Dana, Pasquali, Marzia, Boycott, Kym, Neilan, Edward G., Kartashov, Alex, Forman, Mark S., Tucker, Stuart, Kimonis, Katerina, Mumm, Steven, Whyte, Michael P., Smith, Charles D., Watts, Giles D. J.
Published in American Journal of Medical Genetics Part A (15.03.2008)
Published in American Journal of Medical Genetics Part A (15.03.2008)
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