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Journal of Alzheimer's Disease, ISSN 1387-2877, 01/2019, Volume 67, Issue 1, pp. 231 - 242
Background: Alzheimer’s disease (AD) is a chronic neurological disorder associated with mental decline and dementia. Several studies focused on investigating... 
Apolipoprotein E4 | Genes | Population genetics | Patients | Amyloid precursor protein | Gene sequencing | Proteins | Gene frequency | Apolipoprotein E | Coding | Alleles | Dementia disorders | Mutation | Protein structure | Alzheimer's disease | Structural analysis
Journal Article
Blood, ISSN 0006-4971, 11/2019, Volume 134, Issue Supplement_1, pp. 5776 - 5776
Decision making in the public healthcare system is heavily invested in screening and preventative medicine in addition to the translation of national... 
Journal Article
Journal of Alzheimer's Disease, ISSN 1387-2877, 2019, Volume 67, Issue 1, pp. 231 - 242
Background: Alzheimer's disease (AD) is a chronic neurological disorder associated with mental decline and dementia. Several studies focused on investigating... 
familial | sporadic | gene | novel variants | Alzheimer's disease | COMMON VARIANTS | RISK | AMYLOID PRECURSOR PROTEIN | NEUROSCIENCES | APOLIPOPROTEIN-E | TYPE-4 ALLELE | IDENTIFIES VARIANTS | EARLY-ONSET | SORL1 VARIANTS | MUTATIONS | GENOME-WIDE ASSOCIATION
Journal Article
npj Genomic Medicine, ISSN 2056-7944, 12/2019, Volume 4, Issue 1, pp. 4 - 7
Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder. Around 490 mutations in and genes were reported. We aimed to use targeted... 
Mutation
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 01/2015, Volume 96, Issue 1, p. 147
  Abnormal ocular motility is a common clinical feature in congenital cranial dysinnervation disorder (CCDD). To date, eight genes related to neuronal... 
Proteins | Genotype & phenotype | Congenital diseases | Genetic disorders | Neurons | Genes | Mutation
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2014, Volume 111, Issue 50, p. 17953
  Inactivating mutations in chromodomain helicase DNA binding protein 7 (CHD7) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated... 
Proteins | Genes | Hormones | Mutation | Binding sites | Deoxyribonucleic acid--DNA
Journal Article
Scientific Reports, ISSN 2045-2322, 05/2015, Volume 5, Issue 1, p. 10442
Journal Article
BMC research notes, ISSN 1756-0500, 04/2019, Volume 12, Issue 1, pp. 225 - 7
Delivery of constructs for silencing or over-expressing genes or their modified versions is a crucial step for studying neuronal cell biology. Therefore,... 
Infection | Neurons | Knowledge | Neurophysiology | Astrocytes | Cortex | Neuroblastoma | Vectors (Biology) | Calcium phosphates | Gene silencing | Transfection | Efficiency | Cell lines | Hippocampus | Binding sites | Deoxyribonucleic acid--DNA | Methods | Primary cortical neurons | Lipofection | Primary cortical astrocytes | Neuroblastoma cell lines | Transfection efficiency
Journal Article
International Journal of Cancer, ISSN 0020-7136, 06/2017, Volume 140, Issue 12, pp. 2701 - 2708
Journal Article
by Tanskanen, Tomas and van den Berg, Linda and Välimäki, Niko and Aavikko, Mervi and Ness‐Jensen, Eivind and Hveem, Kristian and Wettergren, Yvonne and Bexe Lindskog, Elinor and Tõnisson, Neeme and Metspalu, Andres and Silander, Kaisa and Orlando, Giulia and Law, Philip J and Tuupanen, Sari and Gylfe, Alexandra E and Hänninen, Ulrika A and Cajuso, Tatiana and Kondelin, Johanna and Sarin, Antti‐Pekka and Pukkala, Eero and Jousilahti, Pekka and Salomaa, Veikko and Ripatti, Samuli and Palotie, Aarno and Järvinen, Heikki and Renkonen‐Sinisalo, Laura and Lepistö, Anna and Böhm, Jan and Mecklin, Jukka‐Pekka and Al‐Tassan, Nada A and Palles, Claire and Martin, Lynn and Barclay, Ella and Tenesa, Albert and Farrington, Susan M and Timofeeva, Maria N and Meyer, Brian F and Wakil, Salma M and Campbell, Harry and Smith, Christopher G and Idziaszczyk, Shelley and Maughan, Tim S and Kaplan, Richard and Kerr, Rachel and Kerr, David and Buchanan, Daniel D and Win, Aung K and Hopper, John and Jenkins, Mark A and Newcomb, Polly A and Gallinger, Steve and Conti, David and Schumacher, Fredrick R and Casey, Graham and Cheadle, Jeremy P and Dunlop, Malcolm G and Tomlinson, Ian P and Houlston, Richard S and Palin, Kimmo and Aaltonen, Lauri A and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Institute of Clinical Sciences, Section for Surgery and Gastrosurgical Research and Education, Department of Surgery and Institutionen för kliniska vetenskaper, sektionen för kirurgi och kirurgisk gastroforskning, Avdelningen för kirurgi and Sahlgrenska Academy
International Journal of Cancer, ISSN 0020-7136, 02/2018, Volume 142, Issue 3, pp. 540 - 546
Journal Article
Journal of AAPOS, ISSN 1091-8531, 2016, Volume 20, Issue 6, pp. 542 - 544.e2
Typical Duane retraction syndrome, a common form of congenital cranial dysinnervation disorder (CCDD), is rarely due to a monogenic mutation. However, the... 
Ophthalmology | OPHTHALMOLOGY | PEDIATRICS | RETRACTION SYNDROME | STRABISMUS PHENOTYPE | CHN1 MUTATIONS | CRANIAL DYSINNERVATION DISORDER | Phenotype | Mutation | Duane Retraction Syndrome - genetics | Humans | Non-Fibrillar Collagens - genetics | Genetic aspects | Genetic disorders
Journal Article
European Journal of Cancer, ISSN 0959-8049, 10/2017, Volume 84, pp. 228 - 238
Journal Article