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1993 1
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320 results

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Page 1
Clinical manifestations of the anti-IgLON5 disease.
Gaig C, Graus F, Compta Y, Högl B, Bataller L, Brüggemann N, Giordana C, Heidbreder A, Kotschet K, Lewerenz J, Macher S, Martí MJ, Montojo T, Pérez-Pérez J, Puertas I, Seitz C, Simabukuro M, Téllez N, Wandinger KP, Iranzo A, Ercilla G, Sabater L, Santamaría J, Dalmau J. Gaig C, et al. Among authors: bruggemann n. Neurology. 2017 May 2;88(18):1736-1743. doi: 10.1212/WNL.0000000000003887. Epub 2017 Apr 5. Neurology. 2017. PMID: 28381508 Free PMC article.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: bruggemann n. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
VPS13D promotes peroxisome biogenesis.
Baldwin HA, Wang C, Kanfer G, Shah HV, Velayos-Baeza A, Dulovic-Mahlow M, Brüggemann N, Anding A, Baehrecke EH, Maric D, Prinz WA, Youle RJ. Baldwin HA, et al. Among authors: bruggemann n. J Cell Biol. 2021 May 3;220(5):e202001188. doi: 10.1083/jcb.202001188. J Cell Biol. 2021. PMID: 33891012 Free PMC article.
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tu… See abstract for full author list ➔ Vollstedt EJ, et al. Among authors: bruggemann n. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014 Free article.
Will genotype drive treatment options?
Brüggemann N, Klein C. Brüggemann N, et al. Mov Disord. 2019 Sep;34(9):1294-1299. doi: 10.1002/mds.27699. Epub 2019 Apr 10. Mov Disord. 2019. PMID: 30970153 Review.
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism.
Borsche M, König IR, Delcambre S, Petrucci S, Balck A, Brüggemann N, Zimprich A, Wasner K, Pereira SL, Avenali M, Deuschle C, Badanjak K, Ghelfi J, Gasser T, Kasten M, Rosenstiel P, Lohmann K, Brockmann K, Valente EM, Youle RJ, Grünewald A, Klein C. Borsche M, et al. Among authors: bruggemann n. Brain. 2020 Oct 1;143(10):3041-3051. doi: 10.1093/brain/awaa246. Brain. 2020. PMID: 33029617 Free PMC article.
Genetics of Parkinson's Disease: From Causes to Treatment.
Westenberger A, Brüggemann N, Klein C. Westenberger A, et al. Among authors: bruggemann n. Cold Spring Harb Perspect Med. 2024 Aug 12:a041774. doi: 10.1101/cshperspect.a041774. Online ahead of print. Cold Spring Harb Perspect Med. 2024. PMID: 39134389
Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease.
Gaig C, Compta Y, Heidbreder A, Marti MJ, Titulaer MJ, Crijnen Y, Högl B, Lewerenz J, Erro ME, García-Moncó JC, Nigro P, Tambasco N, Patalong-Ogiewa M, Erdler M, Macher S, Berger-Sieczkowski E, Höftberger R, Geis C, Hutterer M, Milán-Tomás A, Martin-Bastida A, Manzanares LL, Quintas S, Höglinger GU, Möhn N, Schöberl F, Thaler FS, Asioli GM, Provini F, Plazzi G, Berganzo K, Blaabjerg M, Brüggemann N, Farias T, Ng CF, Giordana C, Herrero-San Martín A, Huebra L, Kotschet K, Liendl H, Montojo T, Morata C, Pérez-Pérez J, Puertas I, Seifert-Held T, Seitz C, Simabukuro MM, Téllez N, Villacieros-Álvarez J, Willekens B, Sabater L, Iranzo A, Santamaria J, Dalmau J, Graus F. Gaig C, et al. Among authors: bruggemann n. Neurology. 2021 Oct 4;97(14):e1367-e1381. doi: 10.1212/WNL.0000000000012639. Neurology. 2021. PMID: 34380749 Free PMC article.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: bruggemann n. Am J Hum Genet. 2023 Jun 1;110(6):1018. doi: 10.1016/j.ajhg.2023.05.005. Am J Hum Genet. 2023. PMID: 37267898 Free PMC article. No abstract available.
320 results