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Items: 11

1.
Nedd4-WW Domain-Binding Protein 5 (Ndfip1) Is Associated with Neuronal Survival after Acute Cortical Brain Injury
Qian Sang, Mary H. Kim, Sharad Kumar, Nicole Bye, Maria C. Morganti-Kossman, Jenny Gunnersen, Stephanie Fuller, Jason Howitt, Lavinia Hyde, Tim Beissbarth, Hamish S. Scott, John Silke, Seong-Seng Tan
J Neurosci. 2006 Jul 5; 26(27): 7234–7244. doi: 10.1523/JNEUROSCI.1398-06.2006
PMCID:
PMC6673957
AbstractArticlePDF–1.1M
2.
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
Emma A. Hall, Michael S. Nahorski, Lyndsay M. Murray, Ranad Shaheen, Emma Perkins, Kosala N. Dissanayake, Yosua Kristaryanto, Ross A. Jones, Julie Vogt, Manon Rivagorda, Mark T. Handley, Girish R. Mali, Tooba Quidwai, Dinesh C. Soares, Margaret A. Keighren, Lisa McKie, Richard L. Mort, Noor Gammoh, Amaya Garcia-Munoz, Tracey Davey, Matthieu Vermeren, Diana Walsh, Peter Budd, Irene A. Aligianis, Eissa Faqeih, Alan J. Quigley, Ian J. Jackson, Yogesh Kulathu, Mandy Jackson, Richard R. Ribchester, Alex von Kriegsheim, Fowzan S. Alkuraya, C. Geoffrey Woods, Eamonn R. Maher, Pleasantine Mill
Am J Hum Genet. 2017 May 4; 100(5): 706–724. Published online 2017 Apr 13. doi: 10.1016/j.ajhg.2017.03.008
PMCID:
PMC5420347
AbstractArticlePDF–4.3M
3.
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly
Katia Hardies, Patrick May, Tania Djémié, Oana Tarta-Arsene, Tine Deconinck, Dana Craiu, AR working group of the EuroEPINOMICS RES Consortium, Ingo Helbig, Arvid Suls, Rudy Balling, Sarah Weckhuysen, Peter De Jonghe, Jennifer Hirst, AR working group of the EuroEPINOMICS RES Consortium, Zaid Afawi, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Christel Depienne, Carolien G.F. De Kovel, Petia Dimova, Rosa Guerrero-López, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jahn, Karl Martin Klein, Bobby P.C. Koeleman, Eric Leguern, Anna-Elina Lehesjoki, Johannes Lemke, Holger Lerche, Carla Marini, Hiltrud Muhle, Felix Rosenow, Jose M. Serratosa, Rikke S. Møller, Ulrich Stephani, Pasquale Striano, Tiina Talvik, Sarah Von Spiczak, Yvonne Weber, Federico Zara
Hum Mol Genet. 2015 Apr 15; 24(8): 2218–2227. Published online 2014 Dec 30. doi: 10.1093/hmg/ddu740
PMCID:
PMC4380070
AbstractArticlePDF–436K
4.
Adaptor protein complexes and intracellular transport
Sang Yoon Park, Xiaoli Guo
Biosci Rep. 2014; 34(4): e00123. Prepublished online 2014 Jun 30. Published online 2014 Jul 29. doi: 10.1042/BSR20140069
PMCID:
PMC4114066
AbstractArticlePDF–655K
5.
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms
John K. Fink
Acta Neuropathol. Author manuscript; available in PMC 2014 Jun 4.
Published in final edited form as: Acta Neuropathol. 2013 Sep; 126(3): 307–328. Published online 2013 Jul 30. doi: 10.1007/s00401-013-1115-8
PMCID:
PMC4045499
AbstractArticlePDF–458K
6.
Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
Rami Abou Jamra, Orianne Philippe, Annick Raas-Rothschild, Sebastian H. Eck, Elisabeth Graf, Rebecca Buchert, Guntram Borck, Arif Ekici, Felix F. Brockschmidt, Markus M. Nöthen, Arnold Munnich, Tim M. Strom, Andre Reis, Laurence Colleaux
Am J Hum Genet. 2011 Jun 10; 88(6): 788–795. doi: 10.1016/j.ajhg.2011.04.019
PMCID:
PMC3113253
AbstractArticlePDF–882K
7.
Mutagenesis of diploid mammalian genes by gene entrapment
Qing Lin, Sarah L. Donahue, Tracy Moore-Jarrett, Shang Cao, Anna B. Osipovich, H. Earl Ruley
Nucleic Acids Res. 2006 Nov; 34(20): e139. Published online 2006 Oct 24. doi: 10.1093/nar/gkl728
PMCID:
PMC1635309
AbstractArticlePDF–347K
8.
Construction of Long-Transcript Enriched cDNA Libraries from Submicrogram Amounts of Total RNAs by a Universal PCR Amplification Method
Yulan Piao, Naomi T. Ko, Meng K. Lim, Minoru S.H. Ko
Genome Res. 2001 Sep; 11(9): 1553–1558. doi: 10.1101/gr.185501
PMCID:
PMC311119
AbstractArticlePDF–743K
9.
RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer
Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki
Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600
PMCID:
PMC310992
AbstractArticlePDF–3.4M
10.
Normalization and Subtraction of Cap-Trapper-Selected cDNAs to Prepare Full-Length cDNA Libraries for Rapid Discovery of New Genes
Piero Carninci, Yuko Shibata, Norihito Hayatsu, Yuichi Sugahara, Kazuhiro Shibata, Masayoshi Itoh, Hideaki Konno, Yasushi Okazaki, Masami Muramatsu, Yoshihide Hayashizaki
Genome Res. 2000 Oct; 10(10): 1617–1630. doi: 10.1101/gr.145100
PMCID:
PMC310980
AbstractArticlePDF–1.4M
11.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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