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Journal Abstract Search

324 related items for PubMed ID: 32352326

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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; 7(10):1862-1869. PubMed ID: 32860341
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  • 5. Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.
    Zhu Z, Hou W, Cao Y, Zheng H, Tian W, Cao L.
    Neurogenetics; 2023 Oct; 24(4):243-250. PubMed ID: 37468791
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  • 6. 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. 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 May 05; 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 05; 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 05; 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 05; 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 05; 18(5):369-372. PubMed ID: 29678961
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  • 16. Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears.
    Hashemi SS, Hajati R, Davarzani A, Rohani M, DanaeeFard F, Rahimi Bidgoli MM, Fatehi F, Kariminejad A, Najmabadi H, Nafissi S, Alavi A.
    Can J Neurol Sci; 2022 Sep 05; 49(5):651-661. PubMed ID: 34353391
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  • 17. Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.
    Zhao M, Chen YJ, Wang MW, Lin XH, Dong EL, Chen WJ, Wang N, Lin X.
    Mol Diagn Ther; 2019 Dec 05; 23(6):781-789. PubMed ID: 31630374
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  • 18. 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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  • 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 05; 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 05; 11(12):e32395. PubMed ID: 34734492
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