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Journal Abstract Search

126 related items for PubMed ID: 35297214

  • 1. Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.
    Alecu JE, Saffari A, Jumo H, Ziegler M, Strelko O, Brownstein CA, Gonzalez-Heydrich J, Rodan LH, Gorman MP, Sahin M, Ebrahimi-Fakhari D.
    Ann Clin Transl Neurol; 2022 Apr; 9(4):570-576. PubMed ID: 35297214
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  • 3. CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation.
    Rahimi Bidgoli MM, Javanparast L, Rohani M, Najmabadi H, Zamani B, Alavi A.
    Int J Neurosci; 2021 Oct; 131(10):962-974. PubMed ID: 32352326
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  • 4. Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review.
    Peng F, Sun YM, Quan C, Wang J, Wu JJ.
    Orphanet J Rare Dis; 2019 Apr 25; 14(1):83. PubMed ID: 31023339
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  • 5. Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.
    Xia ZC, Liu ZH, Zhou XX, Liu Z, Wang JL, Hu ZM, Tan JQ, Shen L, Jiang H, Tang BS, Lei LF.
    J Neurol Sci; 2020 Apr 15; 411():116691. PubMed ID: 31982778
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  • 7. Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
    Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B.
    Am J Hum Genet; 2016 May 05; 98(5):1038-1046. PubMed ID: 27153400
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  • 8. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
    Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G.
    Neurogenetics; 2021 Mar 05; 22(1):71-79. PubMed ID: 33486633
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  • 10. Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76).
    Lu YQ, Dong EL, Yang WQ, Lai LL, Lin XH, Ma LX, Chen WJ, Wang N, Lin X.
    Stem Cell Res; 2019 Jan 05; 34():101354. PubMed ID: 30611022
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  • 13. CAPN1 mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype.
    Lambe J, Monaghan B, Munteanu T, Redmond J.
    Pract Neurol; 2018 Oct 05; 18(5):369-372. PubMed ID: 29678961
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  • 14. White matter abnormalities in 15 subjects with SPG76.
    Alkhalifa A, Chen S, Hasiloglu ZI, Filosto M, Cali E, Houlden H, Sgobbi de Souza P, Alavi A, Goizet C, Stevanin G, Taithe F, Nicita F, Vasco G, Tozza S, Cocozza S, Carboni N, Figus A, Wu J, Basak AN, Brais B, Rouleau G, La Piana R.
    J Neurol; 2023 Dec 05; 270(12):5784-5792. PubMed ID: 37578488
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  • 16. A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.
    Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C.
    Eur J Neurol; 2018 Jul 05; 25(7):943-e71. PubMed ID: 29528531
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  • 17. CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76.
    Garcia-Berlanga JE, Moscovich M, Palacios IJ, Banegas-Lagos A, Rojas-Martinez A, Martinez-Ramirez D.
    Case Rep Neurol Med; 2019 Jul 05; 2019():7615605. PubMed ID: 31355030
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  • 19. Novel stop-gain RNF170 variation detected in a Chinese family with adolescent-onset hereditary spastic paraplegia.
    Fu JX, Wei Q, Chen YL, Li HF.
    Clin Genet; 2023 Jan 05; 103(1):87-92. PubMed ID: 36046950
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