Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

135 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients.
Foddis M, Blumenau S, Holtgrewe M, Paquette K, Westra K, Alonso I, Macario MDC, Morgadinho AS, Velon AG, Santo G, Santana I, Mönkäre S, Kuuluvainen L, Schleutker J, Pöyhönen M, Myllykangas L, Pavlovic A, Kostic V, Dobricic V, Lohmann E, Hanagasi H, Santos M, Guven G, Bilgic B, Bras J, Beule D, Dirnagl U, Guerreiro R, Sassi C. Foddis M, et al. Among authors: lohmann e. Neurobiol Aging. 2023 Mar;123:208-215. doi: 10.1016/j.neurobiolaging.2022.11.013. Epub 2022 Nov 26. Neurobiol Aging. 2023. PMID: 36586737
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC). Lesage S, et al. Among authors: lohmann e. Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014. Am J Hum Genet. 2016. PMID: 26942284 Free PMC article.
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Fevga C, Tesson C, Carreras Mascaro A, Courtin T, van Coller R, Sakka S, Ferraro F, Farhat N, Bardien S, Damak M, Carr J, Ferrien M, Boumeester V, Hundscheid J, Grillenzoni N, Kessissoglou IA, Kuipers DJS, Quadri M; French and Mediterranean Parkinson disease Genetics Study Group; International Parkinsonism Genetics Network; Corvol JC, Mhiri C, Hassan BA, Breedveld GJ, Lesage S, Mandemakers W, Brice A, Bonifati V. Fevga C, et al. Brain. 2023 Apr 19;146(4):1496-1510. doi: 10.1093/brain/awac326. Brain. 2023. PMID: 36073231 Free PMC article.
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Swift IJ, Rademakers R, Finch N, Baker M, Ghidoni R, Benussi L, Binetti G, Rossi G, Synofzik M, Wilke C, Mengel D, Graff C, Takada LT, Sánchez-Valle R, Antonell A, Galimberti D, Fenoglio C, Serpente M, Arcaro M, Schreiber S, Vielhaber S, Arndt P, Santana I, Almeida MR, Moreno F, Barandiaran M, Gabilondo A, Stubert J, Gómez-Tortosa E, Agüero P, Sainz MJ, Gohda T, Murakoshi M, Kamei N, Kittel-Schneider S, Reif A, Weigl J, Jian J, Liu C, Serrero G, Greither T, Theil G, Lohmann E, Gazzina S, Bagnoli S, Coppola G, Bruni A, Quante M, Kiess W, Hiemisch A, Jurkutat A, Block MS, Carlson AM, Bråthen G, Sando SB, Grøntvedt GR, Lauridsen C, Heslegrave A, Heller C, Abel E, Gómez-Núñez A, Puey R, Arighi A, Rotondo E, Jiskoot LC, Meeter LHH, Durães J, Lima M, Tábuas-Pereira M, Lemos J, Boeve B, Petersen RC, Dickson DW, Graff-Radford NR, LeBer I, Sellami L, Lamari F, Clot F, Borroni B, Cantoni V, Rivolta J, Lleó A, Fortea J, Alcolea D, Illán-Gala I, Andres-Cerezo L, Van Damme P, Clarimon J, Steinacker P, Feneberg E, Otto M, van der Ende EL, van Swieten JC, Seelaar H, Zetterberg H, Sogorb-Esteve A, Rohrer JD. Swift IJ, et al. Among authors: lohmann e. Alzheimers Res Ther. 2024 Mar 28;16(1):66. doi: 10.1186/s13195-024-01420-z. Alzheimers Res Ther. 2024. PMID: 38539243 Free PMC article.
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.
Laabs BH, Lohmann K, Vollstedt EJ, Reinberger T, Nuxoll LM, Kilic-Berkmen G, Perlmutter JS, Loens S, Cruchaga C, Franke A, Dobricic V, Hinrichs F, Grözinger A, Altenmüller E, Bellows S, Boesch S, Bressman SB, Duque KR, Espay AJ, Ferbert A, Feuerstein JS, Frank S, Gasser T, Haslinger B, Jech R, Kaiser F, Kamm C, Kollewe K, Kühn AA, LeDoux MS, Lohmann E, Mahajan A, Münchau A, Multhaupt-Buell T, Pantelyat A, Pirio Richardson SE, Raymond D, Reich SG, Saunders Pullman R, Schormair B, Sharma N, Sichani AH, Simonyan K, Volkmann J, Wagle Shukla A, Winkelmann J, Wright LJ, Zech M, Zeuner KE, Zittel S, Kasten M, Sun YV, Bäumer T, Brüggemann N, Ozelius LJ, Jinnah HA, Klein C, König IR. Laabs BH, et al. Among authors: lohmann e. Mov Disord. 2024 Nov;39(11):2110-2116. doi: 10.1002/mds.29968. Epub 2024 Sep 17. Mov Disord. 2024. PMID: 39287592
Pallidal Deep Brain Stimulation Improves HPCA-Linked (DYT 2) Dystonia.
Samanci B, Şahin E, Samanci Y, Bilgiç B, Atasu B, Lohmann E, Peker S, Hanağası HA. Samanci B, et al. Among authors: lohmann e. Mov Disord Clin Pract. 2024 Feb;11(2):184-187. doi: 10.1002/mdc3.13947. Epub 2023 Dec 20. Mov Disord Clin Pract. 2024. PMID: 38386491 No abstract available.
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Thomsen M, Marth K, Loens S, Everding J, Junker J, Borngräber F, Ott F, Jesús S, Gelderblom M, Odorfer T, Kuhlenbäumer G, Kim HJ, Schaeffer E, Becktepe J, Kasten M, Brüggemann N, Pfister R, Kollewe K, Krauss JK, Lohmann E, Hinrichs F, Berg D, Jeon B, Busch H, Altenmüller E, Mir P, Kamm C, Volkmann J, Zittel S, Ferbert A, Zeuner KE, Rolfs A, Bauer P, Kühn AA, Bäumer T, Klein C, Lohmann K. Thomsen M, et al. Among authors: lohmann e. Mov Disord. 2024 Mar;39(3):526-538. doi: 10.1002/mds.29693. Epub 2024 Jan 12. Mov Disord. 2024. PMID: 38214203
135 results