Browsing by Author Kumar, Kishore Raj

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 8 of 8
Issue DateTitleAuthor(s)Citation
2016Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencingKumar, Kishore Raj; Roscioli, Tony; Sue, Carolyn; Wali, Gautam; Cowley, Mark; Dinger, Marcel; Gayevskiy, Velimir; Kamate, Mahesh; Minoche, Andre; Pinese, Mark; Puttick, Clare; Wali, G. M.; Northern Clinical School: Kolling Institute; Central Clinical School: Medicine; Northern Clinical School: Medicine; Northern Clinical School: Kolling InstituteDefining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing, Neurogenetics, vol.17, 4, 2016,pp 265-270
2012Frequency of the D620N mutation in VPS35 in Parkinson diseaseKumar, Kishore Raj; Sue, Carolyn; et al, Various; Heldmann, Marcus; Kasten, Meike; Kostic, Vladimir S; Ramirez, Alfredo; Segura-Aguilar, Juan; Simon, David K; Svetel, Marina; Tunc, Sinem; Vieregge, Peter; Weissbach, Anne; Northern Clinical School: Kolling Institute; Northern Clinical School: MedicineFrequency of the D620N mutation in VPS35 in Parkinson disease, JAMA Neurology, vol.69, 10, 2012,pp 1360-1364
2012Frequency of the D620N mutation in VPS35 in Parkinson diseaseKumar, Kishore Raj; Sue, Carolyn; et al, Various; Heldmann, Marcus; Kasten, Meike; Kostic, Vladimir S; Ramirez, Alfredo; Segura-Aguilar, Juan; Simon, David K; Svetel, Marina; Tunc, Sinem; Vieregge, Peter; Weissbach, Anne; Northern Clinical School: Kolling Institute; Northern Clinical School: MedicineFrequency of the D620N mutation in VPS35 in Parkinson disease, JAMA Neurology, vol.69, 10, 2012,pp 1360-1364
2013Glucocerebrosidase mutations in a Serbian Parkinson's disease populationKumar, Kishore Raj; Sue, Carolyn; Alcalay, Roy N; Gobel, Anna; Grunewald, A; Klein, Christine; Kostic, Vladimir S; Krainc, Dimitri; Kresojevic, Nikola D; Lohmann, Katja; Mazzulli, Joseph R; Ramirez, Alfredo R; Rolfs, Arndt; Svetel, Marina; Northern Clinical School: Kolling Institute; Northern Clinical School: MedicineGlucocerebrosidase mutations in a Serbian Parkinson's disease population, European Journal of Neurology, vol.20, 2, 2013,pp 402-405
2014Mutations in GNAL: A Novel Cause of Craniocervical DystoniaKumar, Kishore Raj; Sue, Carolyn; Bruggemann, Norbert; et al, Various; Ferbert, Andreas; Hagenah, Johann; Kasten, Meike; Lohmann, Katja; Lohnau, Thora; Masuho, Ikuo; Miyamoto, Ryosuke; Northern Clinical School: Kolling Institute; Northern Clinical School: MedicineMutations in GNAL: A Novel Cause of Craniocervical Dystonia, JAMA Neurology, vol.71, 4, 2014,pp 490-494
2013A novel OPA3 mutation revealed by exome sequencing: An example of reverse phenotypingKumar, Kishore Raj; Arif, Beenish; Bruggemann, Anne; et al, Various; Fatima, Amara; Jamil, Ahmad Zeeshan; Nurnberg, Gudrun; Nurnberg, Peter; Seibler, Philip; Thiele, Holger; Vulinovic, Franca; Winkler, Susen; Northern Clinical School: Kolling InstituteA novel OPA3 mutation revealed by exome sequencing: An example of reverse phenotyping, JAMA Neurology (formerly Archives of Neurology), vol.70, 6, 2013,pp 783-787
2015Presenting symptoms of GBA-related Parkinson's diseaseKumar, Kishore Raj; Dobricic, Valerija; Dragasevic, Natasa; Jankovic, Milena; Klein, Christine; Kostic, Vladimir S; Kresojevic, Nikola D; Novakovic, Ivana; Pekmezovic, Tatjana; Petrovic, Igor; Svetel, Marina; Northern Clinical School: Kolling InstitutePresenting symptoms of GBA-related Parkinson's disease, Parkinsonism and Related Disorders, vol.21, 7, 2015,pp 804-807
2017Screening study of TUBB4A in isolated dystoniaKumar, Kishore Raj; Bruggemann, Norbert; Chung, Sun Ju; Defazio, Giovanni; Domingo, Aloysius; Klein, Christine; Lohmann, Katja; Mir, Pablo; Ozelius, Laurie J.; Rakovic, Aleksandar; Schaake, Susen; Simonyan, Kristina; Vulinovic, Franca; Northern Clinical School: Kolling InstituteScreening study of TUBB4A in isolated dystonia, Parkinsonism and Related Disorders, vol.41, N/A, 2017,pp 118-120