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83 results

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Page 1
LRP10 and α-synuclein transmission in Lewy body diseases.
Carreras Mascaro A, Grochowska MM, Boumeester V, Dits NFJ, Bilgiҫ EN, Breedveld GJ, Vergouw L, de Jong FJ, van Royen ME, Bonifati V, Mandemakers W. Carreras Mascaro A, et al. Among authors: breedveld gj. Cell Mol Life Sci. 2024 Feb 5;81(1):75. doi: 10.1007/s00018-024-05135-0. Cell Mol Life Sci. 2024. PMID: 38315424 Free PMC article.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V. Kuipers DJS, et al. Among authors: breedveld gj. Ann Neurol. 2021 Mar;89(3):485-497. doi: 10.1002/ana.25973. Epub 2020 Dec 15. Ann Neurol. 2021. PMID: 33236446 Free PMC article.
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways.
Magrinelli F, Tesson C, Angelova PR, Salazar-Villacorta A, Rodriguez JA, Scardamaglia A, Chung BH, Jaconelli M, Vona B, Esteras N, Kwong AK, Courtin T, Maroofian R, Alavi S, Nirujogi R, Severino M, Lewis PA, Efthymiou S, O'Callaghan B, Buchert R, Sofan L, Lis P, Pinon C, Breedveld GJ, Chui MM, Murphy D, Pitz V, Makarious MB, Cassar M, Hassan BA, Iftikhar S, Rocca C, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası HA, Bilgiç B, Obeso JA, Kurtis MM, Cogan G, Başak AN, Kiziltan G, Gül T, Yalçın G, Elibol B, Barišić N, Ng EW, Fan SS, Hershkovitz T, Weiss K, Raza Alvi J, Sultan T, Azmi Alkhawaja I, Froukh T, E Alrukban HA, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Lesage S, Bonifati V, Haack TB, Bertoli-Avella AM, Steinfeld R, Alessi DR, Steller H, Brice A, Abramov AY, Bhatia KP, Houlden H. Magrinelli F, et al. Among authors: breedveld gj. medRxiv [Preprint]. 2024 Jun 20:2024.06.19.24308302. doi: 10.1101/2024.06.19.24308302. medRxiv. 2024. PMID: 39148840 Free PMC article. Preprint.
LRP10 in α-synucleinopathies - Authors' reply.
Quadri M, Mandemakers W, Kuipers D, Breedveld GJ, Bonifati V. Quadri M, et al. Among authors: breedveld gj. Lancet Neurol. 2018 Dec;17(12):1035-1036. doi: 10.1016/S1474-4422(18)30408-3. Epub 2018 Nov 13. Lancet Neurol. 2018. PMID: 30507388 No abstract available.
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Fevga C, Tesson C, Carreras Mascaro A, Courtin T, van Coller R, Sakka S, Ferraro F, Farhat N, Bardien S, Damak M, Carr J, Ferrien M, Boumeester V, Hundscheid J, Grillenzoni N, Kessissoglou IA, Kuipers DJS, Quadri M; French and Mediterranean Parkinson disease Genetics Study Group; International Parkinsonism Genetics Network; Corvol JC, Mhiri C, Hassan BA, Breedveld GJ, Lesage S, Mandemakers W, Brice A, Bonifati V. Fevga C, et al. Among authors: breedveld gj. Brain. 2023 Apr 19;146(4):1496-1510. doi: 10.1093/brain/awac326. Brain. 2023. PMID: 36073231 Free PMC article.
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Olgiati S, Quadri M, Fang M, Rood JP, Saute JA, Chien HF, Bouwkamp CG, Graafland J, Minneboo M, Breedveld GJ, Zhang J; International Parkinsonism Genetics Network; Verheijen FW, Boon AJ, Kievit AJ, Jardim LB, Mandemakers W, Barbosa ER, Rieder CR, Leenders KL, Wang J, Bonifati V. Olgiati S, et al. Among authors: breedveld gj. Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14. Ann Neurol. 2016. PMID: 26528954
LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson's disease and dementia with Lewy bodies.
Grochowska MM, Carreras Mascaro A, Boumeester V, Natale D, Breedveld GJ, Geut H, van Cappellen WA, Boon AJW, Kievit AJA, Sammler E; Netherlands Brain Bank; Parchi P, Cortelli P, Alessi DR, van de Berg WDJ, Bonifati V, Mandemakers W. Grochowska MM, et al. Among authors: breedveld gj. Acta Neuropathol. 2021 Jul;142(1):117-137. doi: 10.1007/s00401-021-02313-3. Epub 2021 Apr 28. Acta Neuropathol. 2021. PMID: 33913039 Free PMC article.
83 results