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Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Nanetti L, Kearney M, Boesch S, Stovickova L, Ortigoza-Escobar JD, Macaya A, Gomez-Andres D, Roze E, Molnar MJ, Wolf NI, Darling A, Vasco G, Bertini E, Indelicato E, Neubauer D, Haack TB, Sagi JC, Danti FR, Sival D, Zanni G, Kolk A, Boespflug-Tanguy O, Schols L, van de Warrenburg B, Vidailhet M, Willemsen MA, Buizer AI, Orzes E, Ripp S, Reinhard C, Moroni I, Mariotti C; ERN-RND Working Group for Management of Transition. Nanetti L, et al. Among authors: van de warrenburg b. Neurol Sci. 2024 Mar;45(3):1007-1016. doi: 10.1007/s10072-023-07101-3. Epub 2023 Oct 19. Neurol Sci. 2024. PMID: 37853291
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network; Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Tezenas du Montcel S, et al. Among authors: van de warrenburg bp. Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26. Brain. 2014. PMID: 24972706 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.
Santana MM, Gaspar LS, Pinto MM, Silva P, Adão D, Pereira D, Ribeiro JA, Cunha I, Huebener-Schmid J, Raposo M, Ferreira AF, Faber J, Kuhs S, Garcia-Moreno H, Reetz K, Thieme A, Infante J, van de Warrenburg BPC, Giunti P, Riess O, Schöls L, Lima M, Klockgether T, Januário C, de Almeida LP; European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative Study Group. Santana MM, et al. Neuropathol Appl Neurobiol. 2023 Apr;49(2):e12892. doi: 10.1111/nan.12892. Neuropathol Appl Neurobiol. 2023. PMID: 36798010 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: van de warrenburg b, van os njh. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 No abstract available.
Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Németh AH, Antoniades CA, Dukart J, Minnerop M, Rentz C, Schuman BJ, van de Warrenburg B, Willemse I, Bertini E, Gupta AS, de Mello Monteiro CB, Almoajil H, Quinn L, Perlman SB, Horak F, Ilg W, Traschütz A, Vogel AP, Dawes H; AGI Digital-Motor Biomarkers Working Group. Németh AH, et al. Among authors: van de warrenburg b, de mello monteiro cb. Cerebellum. 2024 Jun;23(3):912-923. doi: 10.1007/s12311-023-01608-3. Epub 2023 Nov 28. Cerebellum. 2024. PMID: 38015365 Free PMC article. Review.
385 results