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774 results

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Page 1
Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study.
Wilke C, Reich S, van Swieten JC, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Santana I, Ducharme S, Butler CR, Gerhard A, Levin J, Danek A, Otto M, Frisoni G, Ghidoni R, Sorbi S, Bocchetta M, Todd E, Kuhle J, Barro C; Genetic Frontotemporal dementia Initiative (GENFI); Rohrer JD, Synofzik M. Wilke C, et al. Among authors: reich s. Ann Neurol. 2022 Jan;91(1):33-47. doi: 10.1002/ana.26265. Epub 2021 Nov 29. Ann Neurol. 2022. PMID: 34743360 Free article.
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: reich s. 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.
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.
Roeben B, Schüle R, Ruf S, Bender B, Alhaddad B, Benkert T, Meitinger T, Reich S, Böhringer J, Langhans CD, Vaz FM, Wortmann SB, Marquardt T, Haack TB, Krägeloh-Mann I, Schöls L, Synofzik M. Roeben B, et al. Among authors: reich s. J Med Genet. 2018 Jan;55(1):39-47. doi: 10.1136/jmedgenet-2017-104622. Epub 2017 Sep 15. J Med Genet. 2018. PMID: 28916646
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, Gburek-Augustat J, Hanagasi HA, Heinzmann A, Horvath R, de Jonghe P, Kamm C, Klivenyi P, Klopstock T, Minnerop M, Münchau A, Renaud M, Roxburgh RH, Santorelli FM, Schirinzi T, Sival DA, Timmann D, Vielhaber S, Wallner M, van de Warrenburg BP, Zanni G, Zuchner S, Klockgether T, Schüle R, Schöls L; PREPARE Consortium; Synofzik M. Traschütz A, et al. Among authors: reich s. Front Neurol. 2021 Jun 25;12:677551. doi: 10.3389/fneur.2021.677551. eCollection 2021. Front Neurol. 2021. PMID: 34248822 Free PMC article. Review.
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Fazal S, Danzi MC, van Kuilenburg ABP, Reich S, Traschütz A, Bender B, Leen R, Toro C, Usdin K, Hayward B, Adams DR, van Karnebeek CDM, Ferreira CR, D'Sousa P, Network UD, Tekin M, Züchner S, Synofzik M. Fazal S, et al. Among authors: reich s. Hum Mol Genet. 2023 Jan 1;32(1):46-54. doi: 10.1093/hmg/ddac173. Hum Mol Genet. 2023. PMID: 35913761 Free PMC article.
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group. Traschütz A, et al. Among authors: reich s. Neurology. 2021 Mar 2;96(9):e1369-e1382. doi: 10.1212/WNL.0000000000011528. Epub 2021 Jan 25. Neurology. 2021. PMID: 33495376 Free PMC article.
774 results