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Page 1
Two RFC1 splicing variants in CANVAS.
Weber S, Coarelli G, Heinzmann A, Monin ML, Richard N, Gerard M, Durr A, Huin V. Weber S, et al. Among authors: heinzmann a. Brain. 2023 Mar 1;146(3):e14-e16. doi: 10.1093/brain/awac466. Brain. 2023. PMID: 36478048 No abstract available.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Traschütz A, Schirinzi T, Laugwitz L, Murray NH, Bingman CA, Reich S, Kern J, Heinzmann A, Vasco G, Bertini E, Zanni G, Durr A, Magri S, Taroni F, Malandrini A, Baets J, de Jonghe P, de Ridder W, Bereau M, Demuth S, Ganos C, Basak AN, Hanagasi H, Kurul SH, Bender B, Schöls L, Grasshoff U, Klopstock T, Horvath R, van de Warrenburg B, Burglen L, Rougeot C, Ewenczyk C, Koenig M, Santorelli FM, Anheim M, Munhoz RP, Haack T, Distelmaier F, Pagliarini DJ, Puccio H, Synofzik M. Traschütz A, et al. Among authors: heinzmann a. Ann Neurol. 2020 Aug;88(2):251-263. doi: 10.1002/ana.25751. Epub 2020 Jun 10. Ann Neurol. 2020. PMID: 32337771 Free PMC article.
Retrospective Observational Study of Brain MRI Findings in Patients with Acute SARS-CoV-2 Infection and Neurologic Manifestations.
Chougar L, Shor N, Weiss N, Galanaud D, Leclercq D, Mathon B, Belkacem S, Ströer S, Burrel S, Boutolleau D, Demoule A, Rosso C, Delorme C, Seilhean D, Dormont D, Morawiec E, Raux M, Demeret S, Gerber S, Trunet S, Similowski T, Degos V, Rufat P, Corvol JC, Lehéricy S, Pyatigorskaya N; CoCo Neurosciences Study Group. Chougar L, et al. Radiology. 2020 Dec;297(3):E313-E323. doi: 10.1148/radiol.2020202422. Epub 2020 Jul 17. Radiology. 2020. PMID: 32677875 Free PMC article.
Severe COVID-19-related encephalitis can respond to immunotherapy.
Cao A, Rohaut B, Le Guennec L, Saheb S, Marois C, Altmayer V, Carpentier VT, Nemlaghi S, Soulie M, Morlon Q, Berthet-Delteil B, Bleibtreu A, Raux M, Weiss N, Demeret S; CoCo-Neurosciences study group. Cao A, et al. Brain. 2020 Dec 1;143(12):e102. doi: 10.1093/brain/awaa337. Brain. 2020. PMID: 33064794 Free PMC article. No abstract available.
The cerebral network of COVID-19-related encephalopathy: a longitudinal voxel-based 18F-FDG-PET study.
Kas A, Soret M, Pyatigoskaya N, Habert MO, Hesters A, Le Guennec L, Paccoud O, Bombois S, Delorme C; on the behalf of CoCo-Neurosciences study group and COVID SMIT PSL study group. Kas A, et al. Eur J Nucl Med Mol Imaging. 2021 Jul;48(8):2543-2557. doi: 10.1007/s00259-020-05178-y. Epub 2021 Jan 15. Eur J Nucl Med Mol Imaging. 2021. PMID: 33452633 Free PMC article.
Association of Clinical, Biological, and Brain Magnetic Resonance Imaging Findings With Electroencephalographic Findings for Patients With COVID-19.
Lambrecq V, Hanin A, Munoz-Musat E, Chougar L, Gassama S, Delorme C, Cousyn L, Borden A, Damiano M, Frazzini V, Huberfeld G, Landgraf F, Nguyen-Michel VH, Pichit P, Sangare A, Chavez M, Morélot-Panzini C, Morawiec E, Raux M, Luyt CE, Rufat P, Galanaud D, Corvol JC, Lubetzki C, Rohaut B, Demeret S, Pyatigorskaya N, Naccache L, Navarro V; Cohort COVID-19 Neurosciences (CoCo Neurosciences) Study Group. Lambrecq V, et al. JAMA Netw Open. 2021 Mar 1;4(3):e211489. doi: 10.1001/jamanetworkopen.2021.1489. JAMA Netw Open. 2021. PMID: 33720371 Free PMC article.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Zurek B, et al. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075208 Free PMC article.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
188 results