1. A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2. Issue 1 (15th September 2019) Authors: Karsak, Meliha; Glebov, Konstantin; Scheffold, Marina; Bajaj, Thomas; Kawalia, Amit; Karaca, Ilker; Rading, Sebastian; Kornhuber, Johannes; Peters, Oliver; Diez‐Fairen, Monica; Frölich, Lutz; Hüll, Michael; Wiltfang, Jens; Scherer, Martin; Riedel‐Heller, Steffi; Schneider, Anja; Heneka, Michael T... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 169 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Issue 1 (23rd April 2020) Authors: Budde, Birgit S.; Aly, Maha Abdelgaber; Mohamed, Mostafa R.; Breß, Andreas; Altmüller, Janine; Motameny, Susanne; Kawalia, Amit; Thiele, Holger; Konrad, Kathryn; Becker, Christian; Toliat, Mohammad R.; Nürnberg, Gudrun; Sayed, Eman Abdel Fattah; Mohamed, Enass Sayed; Pfister, Markus; Nürnberg, Peter Journal: Clinical genetics Issue: Volume 98:Issue 1(2020) Page Start: 32 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. DEPDC5 mutations in genetic focal epilepsies of childhood. Issue 5 (14th April 2014) Authors: Lal, Dennis; Reinthaler, Eva M.; Schubert, Julian; Muhle, Hiltrud; Riesch, Erik; Kluger, Gerhard; Jabbari, Kamel; Kawalia, Amit; Bäumel, Christine; Holthausen, Hans; Hahn, Andreas; Feucht, Martha; Neophytou, Birgit; Haberlandt, Edda; Becker, Felicitas; Altmüller, Janine; Thiele, Holger; Lemke, Jo... Journal: Annals of neurology Issue: Volume 75:Issue 5(2014:May) Page Start: 788 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer's disease. (1st February 2022) Authors: Holstege, Henne; Hulsman, Marc; Charbonnier, Camille; Grenier‐Boley, Benjamin; Quenez, Olivier; Grozeva, Detelina; van Rooij, Jeroen G.J.; Sims, Rebecca; Ahmad, Shahzad; Amin, Najaf; Norsworthy, Penny; Dols‐Icardo, Oriol; Hummerich, Holger; Kawalia, Amit; Amouyel, Philippe; Beecham, Gary W.; Berr... Journal: Alzheimer's & dementia Issue: Volume 17(2021)Supplement 3 Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer's disease. (December 2021) Authors: Holstege, Henne; Hulsman, Marc; Charbonnier, Camille; Grenier‐Boley, Benjamin; Quenez, Olivier; Grozeva, Detelina; van Rooij, Jeroen G.J.; Sims, Rebecca; Ahmad, Shahzad; Amin, Najaf; Norsworthy, Penny; Dols‐Icardo, Oriol; Hummerich, Holger; Kawalia, Amit; Amouyel, Philippe; Beecham, Gary W.; Berr... Journal: Alzheimer's & dementia Issue: Volume 17(2021)Supplement 3 Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Exome sequencing identifies three novel AD‐associated genes: Genetics/genetic factors of Alzheimer's disease. (7th December 2020) Authors: Holstege, Henne; Hulsman, Marc; Charbonnier, Camille; Grenier‐Boley, Benjamin; Quenez, Olivier; Ahmad, Shahzad; Amin, Najaf; van Rooij, Jeroen G.J.; Grozeva, Detelina; Norsworthy, Penny; Hummerich, Holger; Kawalia, Amit; Mok, Kin Y.; Shoai, Maryam; Dols‐Icardo, Oriol; van Der Flier, Wiesje; Sims,... Journal: Alzheimer's & dementia Issue: Volume 16(2020)Supplement 2 Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Issue 4 (14th October 2017) Authors: Moawia, Abubakar; Shaheen, Ranad; Rasool, Sajida; Waseem, Syeda Seema; Ewida, Nour; Budde, Birgit; Kawalia, Amit; Motameny, Susanne; Khan, Kamal; Fatima, Ambrin; Jameel, Muhammad; Ullah, Farid; Akram, Talia; Ali, Zafar; Abdullah, Uzma; Irshad, Saba; Höhne, Wolfgang; Noegel, Angelika Anna; Al‐Owai... Journal: Annals of neurology Issue: Volume 82:Issue 4(2017) Page Start: 562 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. O5‐04‐01: A RARE GENETIC VARIANT IN THE PLCG2 GENE IS ASSOCIATED WITH A REDUCED RISK OF ALL MAJOR TYPES OF DEMENTIA AND AN INCREASED RISK TO REACH AN EXTREMELY OLD AGE. (1st July 2006) Authors: Van der Lee, Sven J.; Jansen, Iris E.; Pletnikova, Olga; Blauwendraat, Cornelis; Hulsman, Marc; Dalmasso, Maria Carolina; Kawalia, Amit; Ramirez, Alfredo; Van der Flier, Wiesje M.; Scheltens, Philip; Reinders, Marcel JT.; Hernandez, Isabel; Lleó, Alberto; Fortea, Juan; Stringa, Najada; Ruiz, Agus... Journal: Alzheimer's & dementia Issue: Volume 14:Supplement 7(2018)Part 31 Page Start: P1648 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. P1‐298: CEREBROSPINAL FLUID AND PLASMA LEVELS OF LYSOPHOSPHATIDIC ACIDS (LPAS) ASSOCIATE WITH CEREBROSPINAL FLUID Aβ‐42 AND P‐TAU. (1st July 2006) Authors: Ahmad, Shahzad; Kohler, Isabelle; Orellana, Adelina; Frölich, Lutz; de Rojas, Itziar; Gil, Silvia; Hernandez, Isabel; Hausner, Lucrezia; Kawalia, Amit; Bakker, Margot H.M.; Socorro, Alfredo Cabrera; Amin, Najaf; Ramirez, Alfredo; Ruiz, Agustin; Hankemeier, Thomas; van Duijn, Cornelia M. Journal: Alzheimer's & dementia Issue: Volume 14:Supplement 7S(2018)Part 7 Page Start: P403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. P3‐122: APOE‐ε4 MODULATES LEVELS OF OMEGA‐3 AND OMEGA‐6 FATTY ACIDS IN ALZHEIMER'S DISEASE DEMENTIA. (1st July 2006) Authors: Wagner-Thelen, Holger; Weinhold, Leonie; Leber, Markus; Kawalia, Amit; Kleineidam, Luca; Böhmer, Anne C.; Heilman, Stefanie; Schmid, Matthias; Wagner, Michael; Riedel-Heller, Steffi G.; Luck, Tobias; Egert, Sarah; Jessen, Frank; Maier, Wolfgang; Ramirez, Alfredo Journal: Alzheimer's & dementia Issue: Volume 14:Supplement 7S(2018)Part 21 Page Start: P1114 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗