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Original Communication - A simple and rapid quantitative method of detection of the common achondroplasia mutation: Analysis in mismatch repair deficient cells, 01/2004
Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7,500. In more than 97% of cases, it is caused by a recurrent point... 
Genetics | hg04004
Journal
Case Reports in Neurology, ISSN 1662-680X, 09/2018, Volume 10, Issue 3, pp. 272 - 278
We report the clinical and genetic analysis of a 63-year-old man with progressive weakness developing over more than 20 years. Prior to his initial visit, he... 
Case Report | DES gene | Digenic inheritance | CAPN3 gene | Limb girdle muscular dystrophy | Double heterozygous variants
Journal Article
Case Reports in Neurology, ISSN 1662-680X, 02/2018, Volume 10, Issue 1, pp. 38 - 44
Charcot-Marie-Tooth disease type 4C, an autosomal recessive genetic neuropathy, is caused by mutations in the SH3TC2 (SH3 domain and tetratricopeptide repeats... 
Case Report | Charcot-Marie-Tooth disease type 4C | SH3TC2 gene | Novel variants | Asian Indian
Journal Article
Journal of Clinical Neuromuscular Disease, ISSN 1522-0443, 06/2019, Volume 20, Issue 4, pp. 214 - 216
ABSTRACTWe describe a 57-year-old patient with mild diffuse weakness that was incidentally detected when he was evaluated for restless leg syndrome. An... 
Journal Article
Journal of Community Hospital Internal Medicine Perspectives, ISSN 2000-9666, 07/2017, Volume 7, Issue 3, pp. 182 - 184
Journal Article
Case Reports in Neurology, ISSN 1662-680X, 06/2016, Volume 8, Issue 2, pp. 120 - 126
Charcot-Marie-Tooth disease type 2 (CMT2) is an autosomal dominant axonal neuropathy caused by mutations in various genes. The subtype CMT2B results from... 
Case Report | Phenotype variability | Digeneic effect | Charcot-Marie-Tooth disease type 2B | RAB7A/LRSAM1 gene interactions
Journal Article
by Malik, Rainer and Chauhan, Ganesh and Traylor, Matthew and Sargurupremraj, Muralidharan and Okada, Yukinori and Mishra, Aniket and Rutten-Jacobs, Loes and Giese, Anne-Katrin and Van Der Laan, Sander W and Gretarsdottir, Solveig and Anderson, Christopher D and Chong, Michael and Adams, Hieab H. H and Ago, Tetsuro and Almgren, Peter and Amouyel, Philippe and Ay, Hakan and Bartz, Traci M and Benavente, Oscar R and Bevan, Steve and Boncoraglio, Giorgio B and Brown, Robert D and Butterworth, Adam S and Carrera, Caty and Carty, Cara L and Chasman, Daniel I and Chen, Wei-Min and Cole, John W and Correa, Adolfo and Cotlarciuc, Ioana and Cruchaga, Carlos and Danesh, John and De Bakker, Paul I. W and Destefano, Anita L and Den Hoed, Marcel and Duan, Qing and Engelter, Stefan T and Falcone, Guido J and Gottesman, Rebecca F and Grewal, Raji P and Gudnason, Vilmundur and Gustafsson, Stefan and Haessler, Jeffrey and Harris, Tamara B and Hassan, Ahamad and Havulinna, Aki S and Heckbert, Susan R and Holliday, Elizabeth G and Howard, George and Hsu, Fang-Chi and Hyacinth, Hyacinth I and Ikram, M. Arfan and Ingelsson, Erik and Irvin, Marguerite R and Jian, Xueqiu and Jiménez-Conde, Jordi and Johnson, Julie A and Jukema, J. Wouter and Kanai, Masahiro and Keene, Keith L and Kissela, Brett M and Kleindorfer, Dawn O and Kooperberg, Charles and Kubo, Michiaki and Lange, Leslie A and Langefeld, Carl D and Langenberg, Claudia and Launer, Lenore J and Lee, Jin-Moo and Lemmens, Robin and Leys, Didier and Lewis, Cathryn M and Lin, Wei-Yu and Lindgren, Arne G and Lorentzen, Erik and Magnusson, Patrik K and Maguire, Jane and Manichaikul, Ani and McArdle, Patrick F and Meschia, James F and Mitchell, Braxton D and Mosley, Thomas H and Nalls, Michael A and Ninomiya, Toshiharu and O'Donnell, Martin J and Psaty, Bruce M and Pulit, Sara L and Rannikmäe, Kristiina and Reiner, Alexander P and Rexrode, Kathryn M and Rice, Kenneth and Rich, Stephen S and Ridker, Paul M and Rost, Natalia S and Rothwell, Peter M and Rotter, Jerome I and Rundek, Tatjana and Sacco, Ralph L and Sakaue, Saori and Sale, Michele M and ... and AFGen Consortium and UK Young Lacunar DNA Study and EPIC-CVD Consortium and Int Stroke Genetics Consortium ISG and INVENT Consortium and Int Genomics Blood Pressure iGEN and MEGASTROKE Consortium and COMPASS Consortium and METASTROKE Consortium and EPIC-InterAct Consortium and Cohorts Heart Aging Res Genomic and BioBank Japan Cooperative Hosp Grp and NINDS Stroke Genetics Network Si and STARNET and Neurology Working Grp Charge Con and Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium and International Stroke Genetics Consortium (ISGC) and NINDS Stroke Genetics Network (SiGN) and International Genomics of Blood Pressure (iGEN-BP) Consortium and BioBank Japan Cooperative Hospital Group and Neurology Working Group of the CHARGE Consortium and Science for Life Laboratory, SciLifeLab and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Medicinsk genetik och genomik and Geriatrik and Kardiovaskulär epidemiologi and Uppsala universitet and Institutionen för medicinska vetenskaper and Molekylär epidemiologi and Institutionen för folkhälso- och vårdvetenskap
Nature Genetics, ISSN 1061-4036, 04/2018, Volume 50, Issue 4, pp. 524 - 537
Journal Article
by Roselli, Carolina and Chaffin, Mark D and Weng, Lu-Chen and Aeschbacher, Stefanie and Ahlberg, Gustav and Albert, Christine M and Almgren, Peter and Alonso, Alvaro and Anderson, Christopher D and Aragam, Krishna G and Arking, Dan E and Barnard, John and Bartz, Traci M and Benjamin, Emelia J and Bihlmeyer, Nathan A and Bis, Joshua C and Bloom, Heather L and Boerwinkle, Eric and Bottinger, Erwin B and Brody, Jennifer A and Calkins, Hugh and Campbell, Archie and Cappola, Thomas P and Carlquist, John and Chasman, Daniel I and Chen, Lin Y and Chen, Yii-Der Ida and Choi, Eue-Keun and Choi, Seung Hoan and Christophersen, Ingrid E and Chung, Mina K and Cole, John W and Conen, David and Cook, James and Crijns, Harry J and Cutler, Michael J and Damrauer, Scott M and Daniels, Brian R and Darbar, Dawood and Delgado, Graciela and Denny, Joshua C and Dichgans, Martin and Dörr, Marcus and Dudink, Elton A and Dudley, Samuel C and Esa, Nada and Esko, Tonu and Eskola, Markku and Fatkin, Diane and Felix, Stephan B and Ford, Ian and Franco, Oscar H and Geelhoed, Bastiaan and Grewal, Raji P and Gudnason, Vilmundur and Guo, Xiuqing and Gupta, Namrata and Gustafsson, Stefan and Gutmann, Rebecca and Hamsten, Anders and Harris, Tamara B and Hayward, Caroline and Heckbert, Susan R and Hernesniemi, Jussi and Hocking, Lynne J and Hofman, Albert and Horimoto, Andrea R. V. R and Huang, Jie and Huang, Paul L and Huffman, Jennifer and Ingelsson, Erik and Ipek, Esra Gucuk and Ito, Kaoru and Jimenez-Conde, Jordi and Johnson, Renee and Jukema, J. Wouter and Kääb, Stefan and Kähönen, Mika and Kamatani, Yoichiro and Kane, John P and Kastrati, Adnan and Kathiresan, Sekar and Katschnig-Winter, Petra and Kavousi, Maryam and Kessler, Thorsten and Kietselaer, Bas L and Kirchhof, Paulus and Kleber, Marcus E and Knight, Stacey and Krieger, Jose E and Kubo, Michiaki and Launer, Lenore J and Laurikka, Jari and Lehtimäki, Terho and Leineweber, Kirsten and Lemaitre, Rozenn N and Li, Man and Lim, Hong Euy and Lin, Henry J and Lin, Honghuang and ... and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Kardiovaskulär epidemiologi and Uppsala universitet and Institutionen för medicinska vetenskaper and Molekylär epidemiologi
Nature Genetics, ISSN 1061-4036, 06/2018, Volume 50, Issue 9, pp. 1 - 9
Journal Article
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, ISSN 0317-1671, 09/2019, Volume 46, Issue 5, pp. 512 - 6
Migraine is a common disorder most typically presenting as headache and often associated with vertigo and motion sickness. It is a genetically complex... 
Index Medicus
Journal Article
Case Reports in Genetics, ISSN 2090-6544, 2015, Volume 2015, pp. 1 - 4
Journal Article
Case reports in genetics, ISSN 2090-6544, 2015, Volume 2015, pp. 219691 - 219691
Complicated hereditary spastic paraplegia (HSP) presents with complex neurological and nonneurological manifestations. We report a patient with autosomal... 
Case Report
Journal Article
World journal of oncology, ISSN 1920-4531, 12/2016, Volume 7, Issue 5-6, pp. 104 - 108
Multiple endocrine neoplasia (MEN) type 2 is an autosomal dominant cancer syndrome associated with the development of thyroid cancer and tumors or hyperplasia... 
Multiple endocrine neoplasia type 2 | Germline selection | V804M mutation | RET gene | Original
Journal Article
by Pulit, Sara L and McArdle, Patrick F and Wong, Quenna and Malik, Rainer and Gwinn, Katrina and Achterberg, Sefanja and Algra, Ale and Amouyel, Philippe and Anderson, Christopher D and Arnett, Donna K Arnett and Arnett, Donna K and Arsava, Ethem Murat and Attia, John and Ay, Hakan and Bartz, Traci M and Battey, Thomas and Benavente, Oscar and Benavente, Oscar R and Bevan, Steve and Biffi, Alessandro and Bis, Joshua C and Blanton, Susan H and Boncoraglio, Giorgio B and Brown, Robert D and Burgess, Annette I and Carrera, Caty and Chapman Smith, Sherita N and Chasman, Daniel I and Chauhan, Ganesh and Chen, Wei-Min and Cheng, Yu-Ching and Chong, Michael and Cloonan, Lisa K and Cole, John W and Cotlarciuc, Ioana and Cruchaga, Carlos and Cuadrado-Godia, Elisa and Dave, Tushar and Dawson, Jesse and Debette, Stéphanie and Delavaran, Hossein and Dell, Cameron A and Dichgans, Martin and Doheny, Kimberly F and Dong, Chuanhui and Duggan, David J and Engström, Gunnar and Evans, Michele K and Pallejà, Xavier Estivill and Faul, Jessica D and Fernández-Cadenas, Israel and Fornage, Myriam and Frossard, Philippe M and Furie, Karen and Gamble, Dale M and Gieger, Christian and Giese, Anne-Katrin and Giralt-Steinhauer, Eva and González, Hector M and Goris, An and Gretarsdottir, Solveig and Grewal, Raji P and Grittner, Ulrike and Gustafsson, Stefan and Han, Buhm and Hankey, Graeme J and Heitsch, Laura and Higgins, Peter and Hochberg, Marc C and Holliday, Elizabeth and Hopewell, Jemma C and Horenstein, Richard B and Howard, George and Ikram, M Arfan and Ilinca, Andreea and Ingelsson, Erik and Irvin, Marguerite R and Jackson, Rebecca D and Jern, Christina and Conde, Jordi Jiménez and Johnson, Julie A and Jood, Katarina and Kahn, Muhammad S and Kaplan, Robert and Kappelle, L Jaap and Kardia, Sharon L R and Keene, Keith L and Kissela, Brett M and Kleindorfer, Dawn O and Koblar, Simon and Labovitz, Daniel and Launer, Lenore J and Laurie, Cathy C and Laurie, Cecelia A and Lee, Jin-Moo and Lee, Cue Hyunkyu and Lehm, Manuel and Lemmens, Robin and Levi, Christopher and Leys, Didier and ... and NINDS Stroke Genetics Network SiGN and ISGC and International Stroke Genetics Consortium (ISGC) and NINDS Stroke Genetics Network (SiGN) and Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering and Institute of Neuroscience and Physiology and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Pathology and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy and Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation and Institutionen för biomedicin, avdelningen för patologi and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi
Lancet Neurology, The, ISSN 1474-4422, 2016, Volume 15, Issue 2, pp. 174 - 184
Journal Article
by Chauhan, Ganesh and Arnold, Corey R and Chu, Audrey Y and Fornage, Myriam and Reyahi, Azadeh and Bis, Joshua C and Havulinna, Aki S and Sargurupremraj, Muralidharan and Smith, Nicholas L and Smith, Albert Vernon and Adams, Hieab H H and Choi, Seung Hoan and Pulit, Sara L and Trompet, Stella and Garcia, Melissa E and Manichaikul, Ani and Teumer, Alexander and Gustafsson, Stefan and Bartz, Traci M and Bellenguez, Céline and Vidal, Jean Sebastien and Jian, Xueqiu and Kjartansson, Olafur and Wiggins, Kerri L and Satizabal, Claudia L and Xue, Flora and Ripatti, Samuli and Liu, Yongmei and Deelen, Joris and den Hoed, Marcel and Bevan, Steve and Hopewell, Jemma C and Malik, Rainer and Heckbert, Susan R and Rice, Kenneth and Levi, Christopher and Sharma, Pankaj and Sudlow, Cathie LM and Nik, Ali Moussavi and Cole, John W and Schmidt, Reinhold and Schmidt, Carsten Oliver and Meschia, James and Thijs, Vincent and Lindgren, Lars and Lindgren, Arne and Lindgren, Cecilia M and Melander, Olle and Grewal, Raji P and Sacco, Ralph L and Rundek, Tatjana and Rothwell, Peter M and Arnett, Donna K and Jern, Christina and Johnson, Julie A and Johnson, Andrew D and Benavente, Oscar R and Wassertheil-Smoller, Sylvia and Lee, Jin-Moo and Wong, Quenna and Aparicio, Hugo J and Engelter, Stefan T and Kloss, Manja and Leys, Didier and Pezzini, Alessandro and Buring, Julie E and Ridker, Paul M and Berr, Claudine and Dartigues, Jean-François and Hamsten, Anders and Magnusson, Patrik K and Traylor, Matthew and Pedersen, Nancy L and Lannfelt, Lars and Morris, Andrew P and Jimenez-Conde, Jordi and Montaner, Joan and Radmanesh, Farid and Slowik, Agnieszka and Woo, Daniel and Hofman, Albert and Koudstaal, Peter J and Portegies, Marileen L P and Uitterlinden, André G and de Craen, Anton J M and Ford, Ian and Jukema, J Wouter and Stott, David J and Allen, Norrina B and Sale, Michele M and Bennett, David A and De Jager, Philip L and White, Charles C and Grabe, Hans Jörgen and Markus, Marcello Ricardo Paulista and Markus, Hugh S and Schminke, Ulf and Boncoraglio, Giorgio B and Clarke, Robert and Kamatani, Yoichiro and ... and Stroke Genetics Network SiGN and METASTROKE Consortium and Neurology Working Grp Cohorts and Cervical Artery Dissection and Int Stroke Genetics Consortium and Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, the Stroke Genetics Network (SiGN), and the International Stroke Genetics Consortium (ISGC) and Institutionen för kemi och molekylärbiologi and Naturvetenskapliga fakulteten and Faculty of Sciences and Göteborgs universitet and Gothenburg University and Department of Chemistry and Molecular Biology
Lancet Neurology, The, ISSN 1474-4422, 2016, Volume 15, Issue 7, pp. 695 - 707
Journal Article