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Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 07/2016, Volume 4, Issue 4, pp. 457 - 464
Journal Article
Neurobiology of aging, 11/2018
Frontotemporal lobar degeneration caused by GRN mutations is mainly associated with a TDP-43 type A proteinopathy. We present a family with autosomal dominant... 
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 9, pp. 1067 - 1072
Journal Article
Journal of Alzheimer's Disease, ISSN 1387-2877, 01/2018, Volume 61, Issue 4, pp. 1275 - 1281
The SORL1 gene encodes a protein involved in the amyloidogenic process, and its variants have been associated with Alzheimer’s disease (AD) physiopathology. We... 
Amyloidogenesis | Dementia disorders | Mutation | Neurodegenerative diseases | Alzheimer's disease
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2015, Volume 24, Issue 8, pp. 2218 - 2227
Journal Article
Journal Article
Seizure: European Journal of Epilepsy, ISSN 1059-1311, 10/2019, Volume 71, pp. 201 - 206
The purpose of this study was to compare the peripapillary retinal nerve fibre layer (RNFL) between patients with genetic generalized epilepsy (GGE) and... 
Juvenile absence epilepsy | Retina | Optical coherence tomography | Juvenile myoclonic epilepsy | Epilepsy with generalized tonic-clonic seizures only | Microstructural differences
Journal Article
by Siekierska, Aleksandra and Stamberger, Hannah and Deconinck, Tine and Oprescu, Stephanie N and Partoens, Michèle and Zhang, Yifan and Sourbron, Jo and Adriaenssens, Elias and Mullen, Patrick and Wiencek, Patrick and Hardies, Katia and Lee, Jeong-Soo and Giong, Hoi-Khoanh and Distelmaier, Felix and Elpeleg, Orly and Helbig, Katherine L and Hersh, Joseph and Isikay, Sedat and Jordan, Elizabeth and Karaca, Ender and Kecskes, Angela and Lupski, James R and Kovacs-Nagy, Reka and May, Patrick and Narayanan, Vinodh and Pendziwiat, Manuela and Ramsey, Keri and Rangasamy, Sampathkumar and Shinde, Deepali N and Spiegel, Ronen and Timmerman, Vincent and von Spiczak, Sarah and Helbig, Ingo and Balak, Chris and Belnap, Newell and Claasen, Ana and Courtright, Amanda and de Both, Matt and Huentelman, Matthew J and Naymik, Marcus and Richholt, Ryan and Siniard, Ashley L and Szelinger, Szabolcs and Craig, David W and Schrauwen, Isabelle and Afawi, Zaid and Balling, Rudi and Baulac, Stéphanie and Barišić, Nina and Caglayan, Hande S and Craiu, Dana and Guerrero-López, Rosa and Guerrini, Renzo and Hjalgrim, Helle and Jähn, Johanna and Klein, Karl Martin and Leguern, Eric and Lemke, Johannes R and Lerche, Holger and Marini, Carla and Møller, Rikke S and Muhle, Hiltrud and Rosenow, Felix and Serratosa, Jose and Suls, Arvid and Stephani, Ulrich and Štěrbová, Katalin and Striano, Pasquale and Zara, Federico and Weckhuysen, Sarah and Francklyn, Christopher and Antonellis, Anthony and de Witte, Peter and De Jonghe, Peter and C4RCD Res Grp and AR Working Grp EuroEPINOMICS RES and AR working group of the EuroEPINOMICS RES Consortium and C4RCD Research Group
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 708 - 15
Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs... 
MUTATIONS CAUSE | HYPOMYELINATION | BIOGENESIS | MECHANISM | ILAE COMMISSION | MULTIDISCIPLINARY SCIENCES | GENES | PHENOTYPE | ONSET | TRNA(VAL) | TRANSFER-RNA-SYNTHETASE | Yeast | tRNA | Epilepsy | Amino acids | Zebrafish | Microcephaly | Neurodevelopmental disorders | Proteins | Neurological diseases | Microencephaly | Encephalopathy | Complementation | Mutation | Age
Journal Article
International Journal of Dentistry, ISSN 1687-8728, 09/2019, Volume 2019, pp. 1 - 6
Aim. The purpose of this study was to evaluate the MD (marginal discrepancy) on the calcinable copings in abutments for cemented prostheses with three luting... 
Gold | Prostheses | Zinc phosphate | Statistical analysis | Transplants & implants | Bond strength | Dentistry | Retention | Eugenol | Zinc | Studies | Cement | Titanium | Zinc oxide | Prosthetics
Journal Article
Critical Care Medicine, ISSN 0090-3493, 01/2019, Volume 47, Issue 1 Suppl 1, pp. 161 - 161
Journal Article
Journal Article
Movement Disorders, ISSN 0885-3185, 12/2012, Volume 27, Issue 14, pp. 1827 - 1828
Journal Article
by May, Patrick and Girard, Simon and Harrer, Merle and Bobbili, Dheeraj R and Schubert, Julian and Wolking, Stefan and Becker, Felicitas and Lachance-Touchette, Pamela and Meloche, Caroline and Gravel, Micheline and Niturad, Cristina E and Knaus, Julia and De Kovel, Carolien and Toliat, Mohamad and Polvi, Anne and Iacomino, Michele and Guerrero-López, Rosa and Baulac, Stéphanie and Marini, Carla and Thiele, Holger and Altmüller, Janine and Jabbari, Kamel and Ruppert, Ann-Kathrin and Jurkowski, Wiktor and Lal, Dennis and Rusconi, Raffaella and Cestèle, Sandrine and Terragni, Benedetta and Coombs, Ian D and Reid, Christopher A and Striano, Pasquale and Caglayan, Hande and Siren, Auli and Everett, Kate and Møller, Rikke S and Hjalgrim, Helle and Muhle, Hiltrud and Helbig, Ingo and Kunz, Wolfram S and Weber, Yvonne G and Weckhuysen, Sarah and Jonghe, Peter De and Sisodiya, Sanjay M and Nabbout, Rima and Franceschetti, Silvana and Coppola, Antonietta and Vari, Maria S and Kasteleijn-Nolst Trenité, Dorothée and Baykan, Betul and Ozbek, Ugur and Bebek, Nerses and Klein, Karl M and Rosenow, Felix and Nguyen, Dang K and Dubeau, François and Carmant, Lionel and Lortie, Anne and Desbiens, Richard and Clément, Jean-François and Cieuta-Walti, Cécile and Sills, Graeme J and Auce, Pauls and Francis, Ben and Johnson, Michael R and Marson, Anthony G and Berghuis, Bianca and Sander, Josemir W and Avbersek, Andreja and McCormack, Mark and Cavalleri, Gianpiero L and Delanty, Norman and Depondt, Chantal and Krenn, Martin and Zimprich, Fritz and Peter, Sarah and Nikanorova, Marina and Kraaij, Robert and van Rooij, Jeroen and Balling, Rudi and Ikram, M Arfan and Uitterlinden, André G and Avanzini, Giuliano and Schorge, Stephanie and Petrou, Steven and Mantegazza, Massimo and Sander, Thomas and LeGuern, Eric and Serratosa, Jose M and Koeleman, Bobby P C and Palotie, Aarno and Lehesjoki, Anna-Elina and Nothnagel, Michael and Nürnberg, Peter and Maljevic, Snezana and Zara, Federico and Cossette, Patrick and Krause, Roland and Lerche, Holger and De Jonghe, Peter and Arfan Ikram, M and ... and Epicure Consortium and EpiPGX Consortium and EuroEPINOMICS COGIE Consortium and EuroEPINOMICS CoGIE Consortium
The Lancet Neurology, ISSN 1474-4422, 08/2018, Volume 17, Issue 8, pp. 699 - 708
Journal Article