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HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Tedesco B, Vendredy L, Adriaenssens E, Cozzi M, Asselbergh B, Crippa V, Cristofani R, Rusmini P, Ferrari V, Casarotto E, Chierichetti M, Mina F, Pramaggiore P, Galbiati M, Piccolella M, Baets J, Baeke F, De Rycke R, Mouly V, Laurenzi T, Eberini I, Vihola A, Udd B, Weiss L, Kimonis V, Timmerman V, Poletti A. Tedesco B, et al. Among authors: baets j. Autophagy. 2023 Aug;19(8):2217-2239. doi: 10.1080/15548627.2023.2179780. Epub 2023 Feb 28. Autophagy. 2023. PMID: 36854646 Free PMC article.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.
Xu IRL, Danzi MC, Ruiz A, Raposo J, De Jesus YA, Reilly MM, Cortese A, Shy ME, Scherer SS, Herrmann DN, Fridman V, Baets J, Saporta M, Seyedsadjadi R, Stojkovic T, Claeys KG, Patel P, Feely S, Rebelo AP; Inherited Neuropathy Consortium; Dohrn MF, Züchner S. Xu IRL, et al. Among authors: baets j. J Peripher Nerv Syst. 2024 Apr 5. doi: 10.1111/jns.12621. Online ahead of print. J Peripher Nerv Syst. 2024. PMID: 38581130
Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases.
Beijer D, Marte S, Li JC, De Ridder W, Chen JZ, Tadenev ALD, Miers KE, Deconinck T, Macdonell R, Marques W Jr, De Jonghe P, Pratt SL, Meyer-Schuman R, Züchner S, Antonellis A, Burgess RW, Baets J. Beijer D, et al. Among authors: baets j. Brain Commun. 2024 Mar 8;6(2):fcae070. doi: 10.1093/braincomms/fcae070. eCollection 2024. Brain Commun. 2024. PMID: 38495304
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.
Krumm L, Pozner T, Zagha N, Coras R, Arnold P, Tsaktanis T, Scherpelz K, Davis MY, Kaindl J, Stolzer I, Süß P, Khundadze M, Hübner CA, Riemenschneider MJ, Baets J, Günther C, Jayadev S, Rothhammer V, Krach F, Winkler J, Winner B, Regensburger M. Krumm L, et al. Among authors: baets j. Acta Neuropathol. 2024 Feb 2;147(1):28. doi: 10.1007/s00401-023-02675-w. Acta Neuropathol. 2024. PMID: 38305941 Free PMC article.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: baets j. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Bremer J, Meinhardt A, Katona I, Senderek J, Kämmerer-Gassler EK, Roos A, Ferbert A, Schröder JM, Nikolin S, Nolte K, Sellhaus B, Popzhelyazkova K, Tacke F, Schara-Schmidt U, Neuen-Jacob E, de Groote CC, de Jonghe P, Timmerman V, Baets J, Weis J. Bremer J, et al. Among authors: baets j. Brain Pathol. 2024 Jan;34(1):e13200. doi: 10.1111/bpa.13200. Epub 2023 Aug 15. Brain Pathol. 2024. PMID: 37581289 Free PMC article.
167 results