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Journal Abstract Search

402 related items for PubMed ID: 32860341

  • 1. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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
    [Abstract] [Full Text] [Related]

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

  • 6. 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]

  • 7. 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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  • 9. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
    Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.
    Brain; 2017 Jun 01; 140(6):1561-1578. PubMed ID: 28459997
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
    Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M.
    Ann Neurol; 2018 Jun 05; 83(6):1075-1088. PubMed ID: 29604224
    [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 Jun 05; 10():580. PubMed ID: 31231303
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  • 13. 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 05; 34():101354. PubMed ID: 30611022
    [Abstract] [Full Text] [Related]

  • 14. Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
    Gatti M, Magri S, Di Bella D, Sarto E, Taroni F, Mariotti C, Nanetti L.
    Neurol Sci; 2021 Nov 05; 42(11):4741-4745. PubMed ID: 34251556
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  • 16. 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 05; 135(Pt 10):2980-93. PubMed ID: 23065789
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  • 19. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
    van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP.
    Brain; 2012 Oct 05; 135(Pt 10):2994-3004. PubMed ID: 22964162
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  • 20. Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
    Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N.
    Intern Med; 2013 Oct 05; 52(14):1629-33. PubMed ID: 23857099
    [Abstract] [Full Text] [Related]

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