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Journal Article
Nature Genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 9, pp. 1067 - 1072
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2013, Volume 45, Issue 5, pp. 546 - U123
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 11/2017, Volume 88, Issue 11, pp. 996 - 997
In case II.5, topographic disorientation was also an early feature. Since age 69 she has developed aphasia, and currently (age 77) she is mute, with advanced... 
genotype-phenotype correlations | primary lateral sclerosis | amyotrophic lateral sclerosis | frontotemporal lobar degeneration | TBK1 gene | SURGERY | COHORT | PSYCHIATRY | CLINICAL NEUROLOGY | Amyotrophic lateral sclerosis | Research | Gene mutations | Phosphotransferases | Dementia | Mutation | Kinases | Siblings
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 07/2016, Volume 4, Issue 4, pp. 457 - 464
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 04/2019, Volume 76, pp. 214.e11 - 214.e15
Frontotemporal lobar degeneration caused by mutations is mainly associated with a TDP-43 type A proteinopathy. We present a family with autosomal dominant... 
Astrogliopathy | GRN mutations | ARTAG | Tauopathy | Neuropathology | PATHOLOGIES | PATTERNS | PROGRANULIN | NEUROSCIENCES | BRAIN | GERIATRICS & GERONTOLOGY | Proteins | Alzheimer's disease | Genetic aspects
Journal Article
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 09/2019, p. 1
The frequency and prognostic significance of the histologic type in early-stage ovarian cancer (OC) is not as well established as in advanced stages. In... 
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
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