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Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
Mencacci NE, Brockmann MM, Dai J, Pajusalu S, Atasu B, Campos J, Pino G, Gonzalez-Latapi P, Patzke C, Schwake M, Tucci A, Pittman A, Simon-Sanchez J, Carvill GL, Balint B, Wiethoff S, Warner TT, Papandreou A, Soo A, Rein R, Kadastik-Eerme L, Puusepp S, Reinson K, Tomberg T, Hanagasi H, Gasser T, Bhatia KP, Kurian MA, Lohmann E, Õunap K, Rosenmund C, Südhof TC, Wood NW, Krainc D, Acuna C. Mencacci NE, et al. Among authors: soo a. J Clin Invest. 2021 Apr 1;131(7):e140625. doi: 10.1172/JCI140625. J Clin Invest. 2021. PMID: 33539324 Free PMC article.
Consensus Clinical Management Guideline for PLA2G6-Associated Neurodegeneration (PLAN).
Wilson JL, Soo AKS, Gregory A, Nardocci N, Zorzi G, Ritzman M, Hope A, Duncan DW, Thomas M, Bertoldi S, Scalise NA, Wood P, Massey H, Denton A, Sargent A, Panwala L, Hogarth P, Kurian MA, Hayflick SJ. Wilson JL, et al. Among authors: soo aks. J Child Neurol. 2025 Apr 22:8830738251323649. doi: 10.1177/08830738251323649. Online ahead of print. J Child Neurol. 2025. PMID: 40262088
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