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Page 1
Patient-Relevant Digital-Motor Outcomes for Clinical Trials in Hereditary Spastic Paraplegia Type 7: A Multicenter PROSPAX Study.
Beichert L, Seemann J, Kessler C, Traschütz A, Müller D, Dillmann-Jehn K, Ricca I, Satolli S, Basak NA, Coarelli G, Timmann D, Gagnon C, van de Warrenburg BPC; PROSPAX Consortium; Ilg W, Synofzik M, Schüle R. Beichert L, et al. Among authors: coarelli g. Neurology. 2024 Dec 24;103(12):e209887. doi: 10.1212/WNL.0000000000209887. Epub 2024 Dec 2. Neurology. 2024. PMID: 39621946 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.
Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers.
Coarelli G, Dubec-Fleury C, Petit E, Sayah S, Fischer C, Nassisi M, Gatignol P, Dorgham K, Daghsen L, Daye P, Cunha P, Kacher R, Hilab R, Hurmic H, Lamazière A, Lamy JC, Welter ML, Chupin M, Mangin JF, Lane R, Gaymard B, Pouget P, Audo I, Brice A, Tezenas du Montcel S, Durr A. Coarelli G, et al. Neurology. 2024 Sep 10;103(5):e209749. doi: 10.1212/WNL.0000000000209749. Epub 2024 Aug 12. Neurology. 2024. PMID: 39133883 Free PMC article.
Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar Ataxia.
Rezende TJR, Petit E, Park YW, Tezenas du Montcel S, Joers JM, DuBois JM, Moore Arnold H, Povazan M, Banan G, Valabregue R, Ehses P, Faber J, Coupé P, Onyike CU, Barker PB, Schmahmann JD, Ratai EM, Subramony SH, Mareci TH, Bushara KO, Paulson H, Klockgether T, Durr A, Ashizawa T, Lenglet C, Öz G; READISCA Consortium. Rezende TJR, et al. Mov Disord. 2024 Oct;39(10):1856-1867. doi: 10.1002/mds.29934. Epub 2024 Jul 26. Mov Disord. 2024. PMID: 39056163
SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
Petit E, Schmitz-Hübsch T, Coarelli G, Jacobi H, Heinzmann A, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Pulst SM, Subramony SH, Ewenczyk C, Brice A, Durr A, Klockgether T, Ashizawa T, Tezenas du Montcel S. Petit E, et al. Among authors: coarelli g. J Neurol. 2024 Jul;271(7):3743-3753. doi: 10.1007/s00415-024-12475-1. Epub 2024 Jun 1. J Neurol. 2024. PMID: 38822840 Free PMC article.
CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Kacher R, Lejeune FX, David I, Boluda S, Coarelli G, Leclere-Turbant S, Heinzmann A, Marelli C, Charles P, Goizet C, Kabir N, Hilab R, Jornea L, Six J, Dommergues M, Fauret AL, Brice A, Humbert S, Durr A. Kacher R, et al. Among authors: coarelli g. Am J Hum Genet. 2024 May 2;111(5):913-926. doi: 10.1016/j.ajhg.2024.03.015. Epub 2024 Apr 15. Am J Hum Genet. 2024. PMID: 38626762 Free PMC article.
Inflammation and acute cardiotoxicity in adult hematological patients treated with CAR-T cells: results from a pilot proof-of-concept study.
Camilli M, Viscovo M, Felici T, Maggio L, Ballacci F, Carella G, Bonanni A, Lamendola P, Tinti L, Di Renzo A, Coarelli G, Galli E, Liuzzo G, Burzotta F, Montone RA, Sorà F, Sica S, Hohaus S, Lanza GA, Crea F, Lombardo A, Minotti G. Camilli M, et al. Among authors: coarelli g. Cardiooncology. 2024 Mar 27;10(1):18. doi: 10.1186/s40959-024-00218-0. Cardiooncology. 2024. PMID: 38532515 Free PMC article.
85 results