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Journal Abstract Search

143 related items for PubMed ID: 31231303

  • 1. 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; 10():580. PubMed ID: 31231303
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 8. 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 05; 24(4):243-250. PubMed ID: 37468791
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.
    Travaglini L, Bellacchio E, Aiello C, Pro S, Bertini E, Nicita F.
    J Neurol Sci; 2017 Jul 15; 378():210-212. PubMed ID: 28566166
    [No Abstract] [Full Text] [Related]

  • 13. Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder.
    Hedera P, Rainier S, Zhao XP, Schalling M, Lindblad K, Yuan QP, Ikeuchi T, Trobe J, Wald JJ, Eldevik OP, Kluin K, Fink JK.
    Neurology; 2002 Feb 12; 58(3):411-6. PubMed ID: 11839840
    [Abstract] [Full Text] [Related]

  • 14. 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 Feb 12; 2019():7615605. PubMed ID: 31355030
    [Abstract] [Full Text] [Related]

  • 15. VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.
    Koh K, Ishiura H, Shimazaki H, Tsutsumiuchi M, Ichinose Y, Nan H, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y.
    Mol Genet Genomic Med; 2020 Mar 12; 8(3):e1108. PubMed ID: 31876103
    [Abstract] [Full Text] [Related]

  • 16. Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.
    Kim A, Kumar KR, Davis RL, Mallawaarachchi AC, Gayevskiy V, Minoche AE, Walls Z, Kim HJ, Jang M, Cowley MJ, Choi JH, Shin C, Sue CM, Jeon B.
    Cerebellum; 2019 Aug 12; 18(4):781-790. PubMed ID: 31104286
    [Abstract] [Full Text] [Related]

  • 17. Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed.
    Forman OP, De Risio L, Mellersh CS.
    PLoS One; 2013 Aug 12; 8(5):e64627. PubMed ID: 23741357
    [Abstract] [Full Text] [Related]

  • 18. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.
    Nielsen JE, Johnsen B, Koefoed P, Scheuer KH, Grønbech-Jensen M, Law I, Krabbe K, Nørremølle A, Eiberg H, Søndergård H, Dam M, Rehfeld JF, Krarup C, Paulson OB, Hasholt L, Sørensen SA.
    Eur J Neurol; 2004 Dec 12; 11(12):817-24. PubMed ID: 15667412
    [Abstract] [Full Text] [Related]

  • 19. Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier.
    Gast AC, Metzger J, Tipold A, Distl O.
    BMC Vet Res; 2016 Oct 10; 12(1):225. PubMed ID: 27724896
    [Abstract] [Full Text] [Related]

  • 20. 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 10; 270(12):5784-5792. PubMed ID: 37578488
    [Abstract] [Full Text] [Related]

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