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The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D. Saffari A, et al. Among authors: kellner m. Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. Brain. 2023. PMID: 36315648 Free PMC article.
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mo A, Saffari A, Kellner M, Döbler-Neumann M, Jordan C, Srivastava S, Zhang B, Sahin M, Fink JK, Smith L, Posey JE, Alter KE, Toro C, Blackstone C, Soldatos AG, Christie M, Schüle R, Ebrahimi-Fakhari D. Mo A, et al. Among authors: kellner m. Mov Disord. 2022 Dec;37(12):2440-2446. doi: 10.1002/mds.29225. Epub 2022 Sep 14. Mov Disord. 2022. PMID: 36103453 Free PMC article.
Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
Schmitz AS, Raju J, Köhler W, Klebe S, Cheheb K, Reschke F, Biskup S, Haack TB, Roeben B, Kellner M, Rahner N, Bloch T, Lemke J, Bender B, Schöls L, Hengel H, Hayer SN. Schmitz AS, et al. Among authors: kellner m. J Neurol. 2024 Sep;271(9):6025-6037. doi: 10.1007/s00415-024-12557-0. Epub 2024 Jul 20. J Neurol. 2024. PMID: 39031193 Free PMC article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Portuguese version of the Literacy Independent Cognitive Assessment (LICA) instrument in the evaluation of individuals aged 50 years or older with Itabaianinha syndrome.
Santos LB, Kellner M, Lisboa W, Faro A, Oliveira CRP, Batista VO, Oliveira-Santos AA, de Brito ÍVA, Marinho CG, Campos VC, Villar-Gouy KR, Leal ÂC, Amorim RS, Melo EV, Santos EG, Salvatori R, Aguiar-Oliveira MH. Santos LB, et al. Among authors: kellner m. Arch Endocrinol Metab. 2024 Aug 13;68:e230265. doi: 10.20945/2359-4292-2023-0265. eCollection 2024. Arch Endocrinol Metab. 2024. PMID: 39420931 Free PMC article.
282 results