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277 related items for PubMed ID: 28832565

  • 1. Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
    Morais S, Raymond L, Mairey M, Coutinho P, Brandão E, Ribeiro P, Loureiro JL, Sequeiros J, Brice A, Alonso I, Stevanin G.
    Eur J Hum Genet; 2017 Nov; 25(11):1217-1228. PubMed ID: 28832565
    [Abstract] [Full Text] [Related]

  • 2. The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.
    Wang C, Zhang YJ, Xu CH, Li D, Liu ZJ, Wu Y.
    Mol Genet Genomic Med; 2021 May; 9(5):e1627. PubMed ID: 33638609
    [Abstract] [Full Text] [Related]

  • 3. Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
    Elert-Dobkowska E, Stepniak I, Krysa W, Ziora-Jakutowicz K, Rakowicz M, Sobanska A, Pilch J, Antczak-Marach D, Zaremba J, Sulek A.
    Neurogenetics; 2019 Mar; 20(1):27-38. PubMed ID: 30778698
    [Abstract] [Full Text] [Related]

  • 4. Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
    Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M, French SPATAX clinical network, Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G.
    Brain; 2022 Apr 29; 145(3):1029-1037. PubMed ID: 34983064
    [Abstract] [Full Text] [Related]

  • 5. A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.
    Kilic MA, Yildiz EP, Deniz A, Coskun O, Kurekci F, Avci R, Genc HM, Yesil G, Akbas S, Yesilyurt A, Kara B.
    Pediatr Neurol; 2024 Mar 29; 152():189-195. PubMed ID: 38301322
    [Abstract] [Full Text] [Related]

  • 6. Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
    Elsayed LEO, Mohammed IN, Hamed AAA, Elseed MA, Johnson A, Mairey M, Mohamed HESA, Idris MN, Salih MAM, El-Sadig SM, Koko ME, Mohamed AYO, Raymond L, Coutelier M, Darios F, Siddig RA, Ahmed AKMA, Babai AMA, Malik HMO, Omer ZMBM, Mohamed EOE, Eltahir HB, Magboul NAA, Bushara EE, Elnour A, Rahim SMA, Alattaya A, Elbashir MI, Ibrahim ME, Durr A, Audhya A, Brice A, Ahmed AE, Stevanin G.
    Eur J Hum Genet; 2016 Jan 29; 25(1):100-110. PubMed ID: 27601211
    [Abstract] [Full Text] [Related]

  • 7. Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
    Balicza P, Grosz Z, Gonzalez MA, Bencsik R, Pentelenyi K, Gal A, Varga E, Klivenyi P, Koller J, Züchner S, Molnar JM.
    J Neurol Sci; 2016 May 15; 364():116-21. PubMed ID: 27084228
    [Abstract] [Full Text] [Related]

  • 8. A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.
    Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E.
    J Neurol Sci; 2011 Jun 15; 305(1-2):67-70. PubMed ID: 21440262
    [Abstract] [Full Text] [Related]

  • 9. Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.
    Akçakaya NH, Özeş Ak B, Gonzalez MA, Züchner S, Battaloğlu E, Parman Y.
    Neurol Neurochir Pol; 2020 Jun 15; 54(2):176-184. PubMed ID: 32242913
    [Abstract] [Full Text] [Related]

  • 10. The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
    Travaglini L, Aiello C, Stregapede F, D'Amico A, Alesi V, Ciolfi A, Bruselles A, Catteruccia M, Pizzi S, Zanni G, Loddo S, Barresi S, Vasco G, Tartaglia M, Bertini E, Nicita F.
    Neurogenetics; 2018 May 15; 19(2):111-121. PubMed ID: 29691679
    [Abstract] [Full Text] [Related]

  • 11. Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
    Svenstrup K, Bross P, Koefoed P, Hjermind LE, Eiberg H, Born AP, Vissing J, Gyllenborg J, Nørremølle A, Hasholt L, Nielsen JE.
    J Neurol Sci; 2009 Sep 15; 284(1-2):90-5. PubMed ID: 19423133
    [Abstract] [Full Text] [Related]

  • 12. Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
    Lynch DS, Koutsis G, Tucci A, Panas M, Baklou M, Breza M, Karadima G, Houlden H.
    Eur J Hum Genet; 2016 Jun 15; 24(6):857-63. PubMed ID: 26374131
    [Abstract] [Full Text] [Related]

  • 13. Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
    Perić S, Marković V, Candayan A, De Vriendt E, Momčilović N, Savić A, Dragašević-Mišković N, Svetel M, Stević Z, Božović I, Mesaroš Š, Drulović J, Basta I, Petrović I, Tamaš O, Mijajlović M, Novaković I, Sokić D, Jordanova A.
    Cells; 2022 Sep 08; 11(18):. PubMed ID: 36139378
    [Abstract] [Full Text] [Related]

  • 14. Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.
    Boukhris A, Stevanin G, Feki I, Denora P, Elleuch N, Miladi MI, Goizet C, Truchetto J, Belal S, Brice A, Mhiri C.
    Clin Genet; 2009 Jun 08; 75(6):527-36. PubMed ID: 19438933
    [Abstract] [Full Text] [Related]

  • 15. Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.
    Yu AC, Chan AY, Au WC, Shen Y, Chan TF, Chan HE.
    Cold Spring Harb Mol Case Stud; 2016 Nov 08; 2(6):a001248. PubMed ID: 27900367
    [Abstract] [Full Text] [Related]

  • 16. Evidence of mosaicism in SPAST variant carriers in four French families.
    Angelini C, Goizet C, Said SA, Camu W, Depienne C, Heron B, Kol B, Guillaud-Bataille M, Pennamen P, Rooryck C, Scherer-Gagou C, Tissier L, Stevanin G, Leguern E, Banneau G.
    Eur J Hum Genet; 2021 Jul 08; 29(7):1158-1163. PubMed ID: 33958741
    [Abstract] [Full Text] [Related]

  • 17. Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.
    Erfanian Omidvar M, Torkamandi S, Rezaei S, Alipoor B, Omrani MD, Darvish H, Ghaedi H.
    J Neurol; 2021 Jun 08; 268(6):2065-2082. PubMed ID: 31745725
    [Abstract] [Full Text] [Related]

  • 18. Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.
    Olmez A, Uyanik G, Ozgül RK, Gross C, Cirak S, Elibol B, Anlar B, Winner B, Hehr U, Topaloglu H, Winkler J.
    Neuropediatrics; 2006 Apr 08; 37(2):59-66. PubMed ID: 16773502
    [Abstract] [Full Text] [Related]

  • 19. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
    Goizet C, Boukhris A, Mundwiller E, Tallaksen C, Forlani S, Toutain A, Carriere N, Paquis V, Depienne C, Durr A, Stevanin G, Brice A.
    Hum Mutat; 2009 Feb 08; 30(2):E376-85. PubMed ID: 18853458
    [Abstract] [Full Text] [Related]

  • 20. The emerging genetic diversity of hereditary spastic paraplegia in Korean patients.
    Yang JO, Yoon JY, Sung DH, Yun S, Lee JJ, Jun SY, Halder D, Jeon SJ, Woo EJ, Seok JM, Cho JW, Jang JH, Choi JK, Kim BJ, Kim NS.
    Genomics; 2021 Nov 08; 113(6):4136-4148. PubMed ID: 34715294
    [Abstract] [Full Text] [Related]

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