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Journal Abstract Search

399 related items for PubMed ID: 30778698

  • 41. Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.
    Battini R, Fogli A, Borghetti D, Michelucci A, Perazza S, Baldinotti F, Conidi ME, Ferreri MI, Simi P, Cioni G.
    Eur J Neurol; 2011 Jan; 18(1):150-7. PubMed ID: 20550563
    [Abstract] [Full Text] [Related]

  • 42. Genetic, structural and clinical analysis of spastic paraplegia 4.
    Varghaei P, Estiar MA, Ashtiani S, Veyron S, Mufti K, Leveille E, Yu E, Spiegelman D, Rioux MF, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z.
    Parkinsonism Relat Disord; 2022 May; 98():62-69. PubMed ID: 35487127
    [Abstract] [Full Text] [Related]

  • 43. [AAA ATPases and hereditary spastic paraplegia].
    Wang YG, Shen L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):298-301. PubMed ID: 19504443
    [Abstract] [Full Text] [Related]

  • 44. Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4.
    Yao L, Cao Y, Zhang C, Huang X, Tian W, Cao L.
    Clin Genet; 2024 Jul; 106(1):56-65. PubMed ID: 38403837
    [Abstract] [Full Text] [Related]

  • 45. A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia.
    Yu W, Jin H, Deng J, Nan D, Huang Y.
    BMC Med Genet; 2020 Jun 03; 21(1):123. PubMed ID: 32493220
    [Abstract] [Full Text] [Related]

  • 46. Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.
    Chen X, Liu J, Wei QQ, Ou RW, Cao B, Yuan X, Hou Y, Zhang L, Shang H.
    BMC Neurol; 2020 Jan 03; 20(1):2. PubMed ID: 31900114
    [Abstract] [Full Text] [Related]

  • 47. 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]

  • 48. A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.
    Jin YH, Xiang YZ, Zhao MF, Liu YH, Fan LL, Li XC.
    Mol Biol Rep; 2024 Sep 04; 51(1):951. PubMed ID: 39230614
    [Abstract] [Full Text] [Related]

  • 49. High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.
    Lan MY, Chang YY, Yeh TH, Lai SC, Liou CW, Kuo HC, Wu YR, Lyu RK, Hung JW, Chang YC, Lu CS.
    BMC Neurol; 2014 Nov 25; 14():216. PubMed ID: 25421405
    [Abstract] [Full Text] [Related]

  • 50. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
    Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G.
    J Neurol Sci; 2012 Jul 15; 318(1-2):1-18. PubMed ID: 22554690
    [Abstract] [Full Text] [Related]

  • 51. 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 15; 131(10):962-974. PubMed ID: 32352326
    [Abstract] [Full Text] [Related]

  • 52. Copy number variations in SPAST and ATL1 are rare among Brazilians.
    Fussiger H, Pereira BLDS, Padilha JPD, Donis KC, Rare-Genomes Project ConsortiumHospital Israelita Albert Einstein, São Paulo, Brazil., Siebert M, Brusius-Facchin AC, Baldo G, Saute JAM.
    Clin Genet; 2023 May 15; 103(5):580-584. PubMed ID: 36537231
    [Abstract] [Full Text] [Related]

  • 53. Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia.
    Zhao W, Zhu QY, Zhang JT, Liu H, Wang LJ, Chen ZQ, Guan LP, Huang XS, Yang L, Yu SY.
    J Neurol Sci; 2013 Dec 15; 335(1-2):112-7. PubMed ID: 24090761
    [Abstract] [Full Text] [Related]

  • 54. Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.
    Chen J, Zhao Z, Shen H, Bing Q, Li N, Guo X, Hu J.
    BMC Neurol; 2022 May 16; 22(1):180. PubMed ID: 35578252
    [Abstract] [Full Text] [Related]

  • 55. 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]

  • 56. Novel insights into the genetic profile of hereditary spastic paraplegia in India.
    Narendiran S, Debnath M, Shivaram S, Kannan R, Sharma S, Christopher R, Seshagiri DV, Jain S, Purushottam M, Mangalore S, Bharath RD, Bindu PS, Sinha S, Taly AB, Nagappa M.
    J Neurogenet; 2022 Mar 29; 36(1):21-31. PubMed ID: 35499206
    [Abstract] [Full Text] [Related]

  • 57. Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.
    Ikeda A, Kumaki T, Tsuyusaki Y, Tsuji M, Enomoto Y, Fujita A, Saitsu H, Matsumoto N, Kurosawa K, Goto T.
    Front Neurol; 2023 Mar 29; 14():1085228. PubMed ID: 37251230
    [Abstract] [Full Text] [Related]

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  • 60. Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
    Brankovic M, Ivanovic V, Basta I, Khang R, Lee E, Stevic Z, Ralic B, Tubic R, Seo G, Markovic V, Bozovic I, Svetel M, Marjanovic A, Veselinovic N, Mesaros S, Jankovic M, Savic-Pavicevic D, Jovin Z, Novakovic I, Lee H, Peric S.
    Neurogenetics; 2024 Jul 29; 25(3):165-177. PubMed ID: 38499745
    [Abstract] [Full Text] [Related]

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