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Page 1
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA. Farazi Fard MA, et al. Among authors: kobeleva x. Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929741 Free PMC article.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA. Farazi Fard MA, et al. Among authors: kobeleva x. Am J Hum Genet. 2019 Jun 6;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009. Am J Hum Genet. 2019. PMID: 31173719 Free PMC article. No abstract available.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB. Husain RA, et al. Among authors: kobeleva x. Am J Hum Genet. 2020 Aug 6;107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015. Epub 2020 Jul 23. Am J Hum Genet. 2020. PMID: 32707086 Free PMC article.
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Cordts I, Önder D, Traschütz A, Kobeleva X, Karin I, Minnerop M, Koertvelyessy P, Biskup S, Forchhammer S, Binder J, Tzschach A, Meiss F, Schmidt A, Kreiß M, Cremer K, Mensah MA, Park J, Rautenberg M, Deininger N, Sturm M, Lingor P, Klopstock T, Weiler M, Marxreiter F, Synofzik M, Posch C, Sirokay J, Klockgether T, Haack TB, Deschauer M. Cordts I, et al. Among authors: kobeleva x. Mov Disord. 2022 Aug;37(8):1707-1718. doi: 10.1002/mds.29071. Epub 2022 Jun 14. Mov Disord. 2022. PMID: 35699229
Coherent Structural and Functional Network Changes after Thalamic Lesions in Essential Tremor.
Pohl EDR, Upadhyay N, Kobeleva X, Purrer V, Maurer A, Keil VC, Kindler C, Borger V, Pieper CC, Groetz S, Scheef L, Maciaczyk J, Schild H, Vatter H, Klockgether T, Radbruch A, Attenberger U, Wüllner U, Boecker H. Pohl EDR, et al. Among authors: kobeleva x. Mov Disord. 2022 Sep;37(9):1924-1929. doi: 10.1002/mds.29130. Epub 2022 Jun 23. Mov Disord. 2022. PMID: 35735240
Subjective cognitive decline and stage 2 of Alzheimer disease in patients from memory centers.
Jessen F, Wolfsgruber S, Kleineindam L, Spottke A, Altenstein S, Bartels C, Berger M, Brosseron F, Daamen M, Dichgans M, Dobisch L, Ewers M, Fenski F, Fliessbach K, Freiesleben SD, Glanz W, Görß D, Gürsel S, Janowitz D, Kilimann I, Kobeleva X, Lohse A, Maier F, Metzger C, Munk M, Preis L, Sanzenbacher C, Spruth E, Rauchmann B, Vukovich R, Yakupov R, Weyrauch AS, Ziegler G, Schmid M, Laske C, Perneczky R, Schneider A, Wiltfang J, Teipel S, Bürger K, Priller J, Peters O, Ramirez A, Boecker H, Heneka MT, Wagner M, Düzel E. Jessen F, et al. Among authors: kobeleva x. Alzheimers Dement. 2023 Feb;19(2):487-497. doi: 10.1002/alz.12674. Epub 2022 Apr 22. Alzheimers Dement. 2023. PMID: 35451563
Neuropsychiatric symptoms in at-risk groups for AD dementia and their association with worry and AD biomarkers-results from the DELCODE study.
Sannemann L, Schild AK, Altenstein S, Bartels C, Brosseron F, Buerger K, Cosma NC, Fliessbach K, Freiesleben SD, Glanz W, Heneka MT, Janowitz D, Kilimann I, Kobeleva X, Laske C, Metzger CD, Munk MHJ, Perneczky R, Peters O, Polcher A, Priller J, Rauchmann B, Rösch C, Rudolph J, Schneider A, Spottke A, Spruth EJ, Teipel S, Vukovich R, Wagner M, Wiltfang J, Wolfsgruber S, Duezel E, Jessen F; DELCODE Study Group. Sannemann L, et al. Among authors: kobeleva x. Alzheimers Res Ther. 2020 Oct 16;12(1):131. doi: 10.1186/s13195-020-00701-7. Alzheimers Res Ther. 2020. PMID: 33066827 Free PMC article.
Working Memory Network Changes in ALS: An fMRI Study.
Vellage AK, Veit M, Kobeleva X, Petri S, Vielhaber S, Müller NG. Vellage AK, et al. Among authors: kobeleva x. Front Neurosci. 2016 Apr 19;10:158. doi: 10.3389/fnins.2016.00158. eCollection 2016. Front Neurosci. 2016. PMID: 27147950 Free PMC article.
33 results