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Journal Abstract Search

324 related items for PubMed ID: 32352326

  • 1. 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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  • 2. 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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  • 3. Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.
    Lai LL, Chen YJ, Li YL, Lin XH, Wang MW, Dong EL, Wang N, Chen WJ, Lin X.
    Ann Clin Transl Neurol; 2020 Oct 25; 7(10):1862-1869. PubMed ID: 32860341
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  • 4. CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.
    Shetty A, Gan-Or Z, Ashtiani S, Ruskey JA, van de Warrenburg B, Wassenberg T, Kamsteeg EJ, Rouleau GA, Suchowersky O.
    Eur J Med Genet; 2019 Dec 25; 62(12):103605. PubMed ID: 30572172
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  • 8. A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.
    Cotti Piccinelli S, Bassi MT, Citterio A, Manganelli F, Tozza S, Santorelli FM, Gallo Cassarino S, Caria F, Baldelli E, Galvagni A, Santoro L, Padovani A, Filosto M.
    Front Neurol; 2019 Dec 25; 10():580. PubMed ID: 31231303
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  • 9. 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 25; 9(4):570-576. PubMed ID: 35297214
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  • 10. 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 25; 22(1):71-79. PubMed ID: 33486633
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  • 11. Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.
    Pashaei M, Davarzani A, Hajati R, Zamani B, Nafissi S, Larti F, Nilipour Y, Rohani M, Alavi A.
    J Neurogenet; 2021 Mar 25; 35(2):84-94. PubMed ID: 33771085
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  • 12. CAPN1 mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype.
    Lambe J, Monaghan B, Munteanu T, Redmond J.
    Pract Neurol; 2018 Oct 25; 18(5):369-372. PubMed ID: 29678961
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  • 14. Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
    Brankovic M, Ivanovic V, Basta I, Khang R, Lee E, Stevic Z, Ralic B, Tubic R, Seo G, Markovic V, Bozovic I, Svetel M, Marjanovic A, Veselinovic N, Mesaros S, Jankovic M, Savic-Pavicevic D, Jovin Z, Novakovic I, Lee H, Peric S.
    Neurogenetics; 2024 Jul 25; 25(3):165-177. PubMed ID: 38499745
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  • 15. Hereditary spastic paraplegia: new insights into clinical variability and spasticity-ataxia phenotype, and novel mutations.
    Sahin I, Saat H.
    Acta Neurol Belg; 2022 Dec 25; 122(6):1529-1535. PubMed ID: 34420199
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  • 19. VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.
    Hausman-Kedem M, Ben-Shachar S, Menascu S, Geva K, Sagie L, Fattal-Valevski A.
    Neurogenetics; 2019 Oct 25; 20(4):187-195. PubMed ID: 31418091
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  • 20. More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.
    Chen S, Zou JL, He S, Li W, Zhang JW, Li SJ.
    Brain Behav; 2021 Dec 25; 11(12):e32395. PubMed ID: 34734492
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