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Journal Abstract Search

165 related items for PubMed ID: 37468791

  • 1. 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
    [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]

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  • 4. 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]

  • 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; 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
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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 15; 22(1):71-79. PubMed ID: 33486633
    [Abstract] [Full Text] [Related]

  • 9. New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.
    Tian W, Zheng H, Zhu Z, Zhang C, Luan X, Cao L.
    Ann Clin Transl Neurol; 2022 Aug 15; 9(8):1108-1115. PubMed ID: 35684947
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 9(4):570-576. PubMed ID: 35297214
    [Abstract] [Full Text] [Related]

  • 11. CAPN1 mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype.
    Lambe J, Monaghan B, Munteanu T, Redmond J.
    Pract Neurol; 2018 Oct 15; 18(5):369-372. PubMed ID: 29678961
    [Abstract] [Full Text] [Related]

  • 12. 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 Oct 15; 10():580. PubMed ID: 31231303
    [Abstract] [Full Text] [Related]

  • 13. Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
    Zhang X, Zhang L, Wu Y, Li G, Chen S, Xia Y, Li H.
    BMC Neurol; 2018 Nov 29; 18(1):196. PubMed ID: 30497413
    [Abstract] [Full Text] [Related]

  • 14. 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 29; 34():101354. PubMed ID: 30611022
    [Abstract] [Full Text] [Related]

  • 15. PLP1 gene mutations cause spastic paraplegia type 2 in three families.
    Yao L, Zhu Z, Zhang C, Tian W, Cao L.
    Ann Clin Transl Neurol; 2023 Mar 29; 10(3):328-338. PubMed ID: 36622199
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
    Rydning SL, Wedding IM, Koht J, Chawla M, Øye AM, Sheng Y, Vigeland MD, Selmer KK, Tallaksen CM.
    Eur J Neurol; 2016 Apr 15; 23(4):763-71. PubMed ID: 26756429
    [Abstract] [Full Text] [Related]

  • 18. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
    Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A.
    Brain; 2012 Oct 15; 135(Pt 10):2980-93. PubMed ID: 23065789
    [Abstract] [Full Text] [Related]

  • 19. A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review.
    Zhu ZY, Li ZY, Zhang C, Liu XL, Tian WT, Cao L.
    Eur J Med Genet; 2022 Nov 15; 65(11):104608. PubMed ID: 36100157
    [Abstract] [Full Text] [Related]

  • 20. 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 Nov 15; 35(2):84-94. PubMed ID: 33771085
    [Abstract] [Full Text] [Related]

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