• Inflammatory diseases among Norwegian LRRK2 mutation carriers. A 15-years follow-up of a cohort 

      Aasly, Jan (Peer reviewed; Journal article, 2021)
      The first families with LRRK2 related Parkinson’s disease (PD) were presented around 15 years ago and numerous papers have described the characteristics of the LRRK2 phenotype. The prevalence of autosomal dominant PD varies ...
    • Long-Term Outcomes of Genetic Parkinson's Disease 

      Aasly, Jan (Journal article, 2020)
      Parkinson's disease (PD) is a progressive neurodegenerative disorder that affects 1-2% of people by the age of 70 years. Age is the most important risk factor, and most cases are sporadic without any known environmental ...
    • Longitudinal Monitoring of Parkinson's Disease in Different Ethnic Cohorts: The DodoNA and LONG-PD Study 

      Markopoulou, Katerina; Aasly, Jan; Ju Chung, Sun; Dardiotis, Efthimios; Wirdefeldt, Karin; Premkumar, Ashvini; Schoneburg, Bernadette; Kartha, Ninith; Wilk, Gary; Wei, Jun Rong; Simon, Kelly Claire; Tideman, Samuel; Epshteyn, Alexander; Hadsell, Bryce; Garduno, Lisette; Pham, Anna; Frigerio, Roberta; Maraganore, Demetrius M. (Peer reviewed; Journal article, 2020)
      Background: Different factors influence severity, progression, and outcomes in Parkinson's disease (PD). Lack of standardized clinical assessment limits comparison of outcomes and availability of well-characterized cohorts ...
    • LRRTM3 Interacts with APP and BACE1 and Has Variants Associating with Late-Onset Alzheimer's Disease (LOAD) 

      Lincoln, Sarah; Allen, Mariet; Cox, Claire L.; Walker, Louise P.; Malphrus, Kimberly; Qiu, Yishu; Nguyen, Thuy; Rowley, Christopher; Kouri, Naomi; Crook, Julia; Pankratz, V. Shane; Younkin, Samuel; Younkin, Linda; Carrasquillo, Minerva; Zou, Fang Geng; Abdul-Hay, Samer O.; Springer, Wolfdieter; Sando, Sigrid Botne; Aasly, Jan; Barcikowska, Maria; Wszolek, Zbigniew K.; Lewis, Jada M.; Dickson, Dennis; Graff-Radford, Neil R.; Petersen, Ronald C.; Eckman, Elizabeth; Younkin, Steven G.; Ertekin-Taner, Nilüfer (Journal article; Peer reviewed, 2013)
      Leucine rich repeat transmembrane protein 3 (LRRTM3) is member of a synaptic protein family. LRRTM3 is a nested gene within α-T catenin (CTNNA3) and resides at the linkage peak for late-onset Alzheimer’s disease (LOAD) ...
    • Metabolic Profiling of CSF from People Suffering from Sporadic and LRRK2 Parkinson's Disease: A Pilot Study 

      Yilmaz, Ali; Ugur, Zafer; Ustun, Ilyas; Akyol, Sumeyya; Bahado-Singh, Ray O.; Maddens, Michael; Aasly, Jan; Graham, Stewart F. (Journal article; Peer reviewed, 2020)
      CSF from unique groups of Parkinson’s disease (PD) patients was biochemically profiled to identify previously unreported metabolic pathways linked to PD pathogenesis, and novel biochemical biomarkers of the disease were ...
    • Metabolomic profiling in LRRK2-related Parkinson's disease 

      Johansen, Krisztina; Wang, Lei; Aasly, Jan; White, Linda; Matson, Wayne R.; Henchcliffe, Claire; Flint Beal, M.; Bogdanov, Mikhail (Journal article; Peer reviewed, 2009)
      Background: Mutations in LRRK2 gene represent the most common known genetic cause of Parkinson's disease (PD). Methodology/Principal Findings: We used metabolomic profiling to identify biomarkers that are associated ...
    • Mitochondrial Mechanisms of LRRK2 G2019S Penetrance 

      Delcambre, Sylvie; Ghelfi, Jenny; Ouzren, Nazzima; Grandmougin, Lea; Delbrouck, Catherine; Seibler, Philip; Wasner, Kobi; Aasly, Jan; Klein, Christine; Trinh, Joanne; Pereira, Sandro L; Grünewald, Anne (Peer reviewed; Journal article, 2020)
      Several mutations in leucine-rich repeat kinase-2 (LRRK2) have been associated with Parkinson's disease (PD). The most common substitution, G2019S, interferes with LRRK2 kinase activity, which is regulated by autophosphorylation. ...
    • Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease 

      Kim, Jonggeol Jeffrey; Vitale, Dan; Otani, Diego Véliz; Lian, Michelle Mulan; Heilbron, Karl; Aslibekyan, Stella; Auton, Adam; Babalola, Elizabeth; Bell, Robert K.; Bielenberg, Jessica; Bryc, Katarzyna; Bullis, Emily; Cannon, Paul; Coker, Daniella; Partida, Gabriel Cuellar; Dhamija, Devika; Das, Sayantan; Elson, Sarah L.; Eriksson, Nicholas; Filshtein, Teresa; Fitch, Alison; Fletez-Brant, Kipper; Fontanillas, Pierre; Freyman, Will; Granka, Julie M.; Hernandez, Alejandro; Hicks, Barry; Hinds, David A.; Jewett, Ethan M.; Jiang, Yunxuan; Kukar, Katelyn; Kwong, Alan; Lin, Keng-Han; Llamas, Bianca A.; Lowe, Maya; McCreight, Jey C.; McIntyre, Matthew H.; Micheletti, Steven J.; Moreno, Meghan E.; Nandakumar, Priyanka; Nguyen, Dominique T.; Noblin, Elizabeth S.; O’Connell, Jared; Petrakovitz, Aaron A.; Poznik, G. David; Reynoso, Alexandra; Schloetter, Madeleine; Schumacher, Morgan; Shastri, Anjali J.; Shelton, Janie F.; Shi, Jingchunzi; Shringarpure, Suyash; Su, Qiaojuan Jane; Tat, Susana A.; Tchakouté, Christophe Toukam; Tran, Vinh; Tung, Joyce Y.; Wang, Xin; Wang, Wei; Weldon, Catherine H.; Wilton, Peter; Wong, Corinna D.; Iwaki, Hirotaka; Lake, Julie; Solsberg, Caroline Warly; Leonard, Hampton; Makarious, Mary B.; Tan, Eng-King; Singleton, Andrew B.; Bandres-Ciga, Sara; Noyce, Alastair J.; Gatto, Emilia M.; Kauffman, Marcelo; Khachatryan, Samson; Tavadyan, Zaruhi; Shepherd, Claire E.; Hunter, Julie; Kumar, Kishore; Ellis, Melina; Rentería, Miguel E.; Koks, Sulev; Zimprich, Alexander; Schumacher-Schuh, Artur F.; Rieder, Carlos; Awad, Paula Saffie; Tumas, Vitor; Camargos, Sarah; Fon, Edward A.; Monchi, Oury; Fon, Ted; Galleguillos, Benjamin Pizarro; Miranda, Marcelo; Bustamante, Maria Leonor; Olguin, Patricio; Chana, Pedro; Tang, Beisha; Shang, Huifang; Guo, Jifeng; Chan, Piu; Luo, Wei; Arboleda, Gonzalo; Orozc, Jorge; del Rio, Marlene Jimenez; Hernandez, Alvaro; Salama, Mohamed; Kamel, Walaa A.; Zewde, Yared Z.; Brice, Alexis; Corvol, Jean-Christophe; Westenberger, Ana; Illarionova, Anastasia; Mollenhauer, Brit; Klein, Christine; Vollstedt, Eva-Juliane; Hopfner, Franziska; Höglinger, Günter; Madoev, Harutyun; Trinh, Joanne; Junker, Johanna; Lohmann, Katja; Lange, Lara M.; Sharma, Manu; Groppa, Sergiu; Gasser, Thomas; Fang, Zih-Hua; Akpalu, Albert; Xiromerisiou, Georgia; Hadjigorgiou, Georgios; Dagklis, Ioannis; Tarnanas, Ioannis; Stefanis, Leonidas; Stamelou, Maria; Dadiotis, Efthymios; Medina, Alex; Chan, Germaine Hiu-Fai; Ip, Nancy; Cheung, Nelson Yuk-Fai; Chan, Phillip; Zhou, Xiaopu; Kishore, Asha; Divya, K.P.; Pal, Pramod; Kukkle, Prashanth Lingappa; Rajan, Roopa; Borgohain, Rupam; Salari, Mehri; Quattrone, Andrea; Valente, Enza Maria; Parnetti, Lucilla; Avenali, Micol; Schirinzi, Tommaso; Funayama, Manabu; Hattori, Nobutaka; Shiraishi, Tomotaka; Karimova, Altynay; Kaishibayeva, Gulnaz; Shambetova, Cholpon; Krüger, Rejko; Tan, Ai Huey; Ahmad-Annuar, Azlina; Norlinah, Mohamed Ibrahim; Murad, Nor Azian Abdul; Azmin, Shahrul; Lim, Shen-Yang; Mohamed, Wael; Tay, Yi Wen; Martinez-Ramirez, Daniel; Rodriguez-Violante, Mayela; Reyes-Pérez, Paula; Tserensodnom, Bayasgalan; Ojha, Rajeev; Anderson, Tim J.; Pitcher, Toni L.; Sanyaolu, Arinola; Okubadejo, Njideka; Ojo, Oluwadamilola; Aasly, Jan; Pihlstrøm, Lasse; Tan, Manuela; Ur-Rehman, Shoaib; Veliz-Otani, Diego; Cornejo-Olivas, Mario; Doquenia, Maria Leila; Rosales, Raymond; Vinuela, Angel; Iakovenko, Elena; Mubarak, Bashayer Al; Umair, Muhammad; Amod, Ferzana; Carr, Jonathan; Bardien, Soraya; Jeon, Beomseok; Kim, Yun Joong; Cubo, Esther; Alvarez, Ignacio; Hoenicka, Janet; Beyer, Katrin; Periñan, Maria Teresa; Pastor, Pau; El-Sadig, Sarah; Brolin, Kajsa; Zweier, Christiane; Tinkhauser, Gerd; Krack, Paul; Lin, Chin-Hsien; Wu, Hsiu-Chuan; Kung, Pin-Jui; Wu, Ruey-Meei; Wu, Yihru; Amouri, Rim; Sassi, Samia Ben; Başak, A. Nazl; Genc, Gencer; Çakmak, Özgür Öztop; Ertan, Sibel; Martínez-Carrasco, Alejandro; Schrag, Anette; Schapira, Anthony; Carroll, Camille; Bale, Claire; Grosset, Donald; Stafford, Eleanor J.; Houlden, Henry; Morris, Huw R.; Hardy, John; Mok, Kin Ying; Rizig, Mie; Wood, Nicholas; Williams, Nigel; Okunoye, Olaitan; Lewis, Patrick Alfryn; Kaiyrzhanov, Rauan; Weil, Rimona; Love, Seth; Stott, Simon; Jasaityte, Simona; Dey, Sumit; Obese, Vida; Espay, Alberto; O’Grady, Alyssa; Sobering, Andrew K.; Siddiqi, Bernadette; Casey, Bradford; Fiske, Brian; Jonas, Cabell; Cruchaga, Carlos; Pantazis, Caroline B.; Comart, Charisse; Wegel, Claire; Hall, Deborah; Hernandez, Dena; Shiamim, Ejaz; Riley, Ekemini; Faghri, Faraz; Serrano, Geidy E.; Chen, Honglei; Mata, Ignacio F.; Sarmiento, Ignacio Juan Keller; Williamson, Jared; Jankovic, Joseph; Shulman, Joshua; Solle, Justin C.; Murphy, Kaileigh; Nuytemans, Karen; Kieburtz, Karl; Markopoulou, Katerina; Marek, Kenneth; Levine, Kristin S.; Chahine, Lana M.; Ibanez, Laura; Screven, Laurel; Ruffrage, Lauren; Shulman, Lisa; Marsili, Luca; Kuhl, Maggie; Dean, Marissa; Koretsky, Mathew; Puckelwartz, Megan J.; Inca-Martinez, Miguel; Louie, Naomi; Mencacci, Niccolò Emanuele; Albin, Roger; Alcalay, Roy; Walker, Ruth; Chowdhury, Sohini; Dumanis, Sonya; Lubbe, Steven; Xie, Tao; Foroud, Tatiana; Beach, Thomas; Sherer, Todd; Song, Yeajin; Nguyen, Duan; Nguyen, Toan; Atadzhanov, Masharip; Blauwendraat, Cornelis; Nalls, Mike A.; Foo, Jia Nee; Mata, Ignacio (Peer reviewed; Journal article, 2023)
      Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale ...
    • Multifactorial assessment of Parkinson’s disease course and outcomes using trajectory modeling in a multiethnic, multisite cohort – extension of the LONG-PD study 

      Chase, Bruce A.; Krueger, Rejko; Pavelka, Lukas; Chung, Sun Ju; Aasly, Jan; Dardiotis, Efthimios; Premkumar, Ashvini P.; Schoneburg, Bernadette; Kartha, Ninith; Aunaetitrakul, Navamon; Frigerio, Roberta; Maraganore, Demetrius; Markopoulou, Katerina (Peer reviewed; Journal article, 2023)
      Background: The severity, progression, and outcomes of motor and non-motor symptoms in Parkinson’s disease (PD) are quite variable. Following PD cohorts holds promise for identifying predictors of disease severity and ...
    • Parkinsons's disease: From basic mechanisms to illness progression 

      Hustad, Eldbjørg (Doctoral theses at NTNU;2022:189, Doctoral thesis, 2022)
      Norsk sammendrag Parkinson’s sykdom Fra grunnleggende mekanismer til sykdomsprogresjon Parkinson’s sykdom (PS) er den vanligste bevegelsesforstyrrelsen og karakteriseres ved både motoriske og ikke-motoriske symptomer ...
    • Progressive multifocal leukoencephalopathy in an immunocompetent patient? 

      Johansen, Krisztina; Torp, Sverre Helge; Rydland, Jana; Aasly, Jan (Peer reviewed; Journal article, 2013)
      Background: Progressive multifocal leukoencephalopathy (PML) is a rapidly progressive, potentially fatal, demyelinating disease affecting immunosuppressed patients. PML is rarely reported in cases with no underlying disease ...
    • The incidence of diagnosis of Munchausen syndrome, other factitious disorders, and malingering 

      Schrader, Harald; Bøhmer, Thomas; Aasly, Jan (Journal article; Peer reviewed, 2019)
      Background. Systematic studies on factitious disorders and malingering in large populations are rare. To address this issue, we performed a nationwide epidemiological study in Norway on the incidence of these diagnoses in ...
    • What have we learned from cerebrospinal fluid studies about biomarkers for detecting LRRK2 Parkinson's disease patients and healthy subjects with Parkinson's-associated LRRK2 mutations? 

      Loeffler, David A.; Aasly, Jan; LeWitt, Peter A.; Coffey, Mary P. (Peer reviewed; Journal article, 2019)
      Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common known cause of autosomal dominant Parkinson’s disease (PD) and sporadic PD (sPD). The clinical presentation of LRRK2 PD is similar to sPD, and ...