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Journal Abstract Search

181 related items for PubMed ID: 30611022

  • 1. 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; 34():101354. PubMed ID: 30611022
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient.
    Hauser S, Erzler M, Theurer Y, Schuster S, Schüle R, Schöls L.
    Stem Cell Res; 2016 Nov; 17(3):485-488. PubMed ID: 27789400
    [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. Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5).
    Höflinger P, Theurer Y, Schüle R, Schöls L, Hauser S.
    Stem Cell Res; 2016 Sep 25; 17(2):422-425. PubMed ID: 27879216
    [Abstract] [Full Text] [Related]

  • 6. Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5).
    Hauser S, Höflinger P, Theurer Y, Rattay TW, Schöls L.
    Stem Cell Res; 2016 Sep 25; 17(2):437-440. PubMed ID: 27879220
    [Abstract] [Full Text] [Related]

  • 7. Generation of an integration-free induced pluripotent stem cell line, FJMUUHi002-A, from a Rett syndrome patient with a heterozygous mutation p. R133C in MeCP2.
    Guo Y, Li J, Xie W, Huang H, Li JJ, Lin W, Lu YQ.
    Stem Cell Res; 2024 Feb 25; 74():103268. PubMed ID: 38100910
    [Abstract] [Full Text] [Related]

  • 8. Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation.
    Xiaojing W, Yanyan M, Ruonan D, Xiaolin L, Haiyan Z, Jian M, Yi L, Wenjie S, Qiji L.
    Stem Cell Res; 2020 Mar 25; 43():101727. PubMed ID: 32045731
    [Abstract] [Full Text] [Related]

  • 9. 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 25; 24(4):243-250. PubMed ID: 37468791
    [Abstract] [Full Text] [Related]

  • 10. 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 25; 131(10):962-974. PubMed ID: 32352326
    [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 25; 9(4):570-576. PubMed ID: 35297214
    [Abstract] [Full Text] [Related]

  • 12. An integration-free iPSC line (MUSIi008-A) derived from a patient with severe hemolytic anemia carrying compound heterozygote mutations in KLF1 gene for disease modeling.
    Potirat P, Wattanapanitch M, Viprakasit V, Kheolamai P, Issaragrisil S.
    Stem Cell Res; 2019 Jan 25; 34():101344. PubMed ID: 30605837
    [Abstract] [Full Text] [Related]

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  • 14. Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene.
    Zhang H, Ma Y, Yu S, Yang X, Li Y, Guan J, Dong R, Gai Z, Liu Y.
    Stem Cell Res; 2019 Dec 25; 41():101611. PubMed ID: 31707209
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  • 17. Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient.
    Vallejo-Diez S, Fleischer A, Martín-Fernández JM, Sánchez-Gilabert A, Bachiller D.
    Stem Cell Res; 2018 Dec 25; 33():180-184. PubMed ID: 30408744
    [Abstract] [Full Text] [Related]

  • 18. Generation of induced pluripotent stem cell line (ZZUi030-A) from a patient with spastic paraplegia type 7.
    Zhang Q, Wang Z, Sun H, Chen N, Xu X, Yang J, Gao Y, Wang Y, Xu Y.
    Stem Cell Res; 2021 Oct 25; 56():102525. PubMed ID: 34509920
    [Abstract] [Full Text] [Related]

  • 19. Generation of induced pluripotent stem cells (IRMBi001-A) from an Alzheimer's disease patient carrying a G217D mutation in the PSEN1 gene.
    Auboyer L, Monzo C, Wallon D, Rovelet-Lecrux A, Gabelle A, Gazagne I, Cacheux V, Lehmann S, Crozet C.
    Stem Cell Res; 2019 Jan 25; 34():101381. PubMed ID: 30677723
    [Abstract] [Full Text] [Related]

  • 20. Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene.
    Alonso-Barroso E, Brasil S, Briso-Montiano Á, Navarrete R, Pérez-Cerdá C, Ugarte M, Pérez B, Desviat LR, Richard E.
    Stem Cell Res; 2017 Aug 25; 23():173-177. PubMed ID: 28925364
    [Abstract] [Full Text] [Related]

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