These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

598 related articles for article (PubMed ID: 29196973)

  • 61. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
    Nikali K; Suomalainen A; Saharinen J; Kuokkanen M; Spelbrink JN; Lönnqvist T; Peltonen L
    Hum Mol Genet; 2005 Oct; 14(20):2981-90. PubMed ID: 16135556
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.
    Mayer AK; Mahajnah M; Zobor D; Bonin M; Sharkia R; Wissinger B
    Mol Vis; 2015; 21():306-15. PubMed ID: 25814828
    [TBL] [Abstract][Full Text] [Related]  

  • 63. β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.
    Clarkson YL; Perkins EM; Cairncross CJ; Lyndon AR; Skehel PA; Jackson M
    Hum Mol Genet; 2014 Jul; 23(14):3875-82. PubMed ID: 24603075
    [TBL] [Abstract][Full Text] [Related]  

  • 64. An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.
    Eidinger O; Leibu R; Newman H; Rizel L; Perlman I; Ben-Yosef T
    Mol Vis; 2015; 21():1295-306. PubMed ID: 26702251
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan.
    Aida I; Ozawa T; Ohta K; Fujinaka H; Goto K; Nakajima T
    Intern Med; 2022 Aug; 61(16):2517-2521. PubMed ID: 35110481
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia.
    Zhang D; Dai L; Zhou Z; Hu J; Bai Y; Guo H
    Clin Chim Acta; 2019 Jul; 494():64-70. PubMed ID: 30871974
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in
    Algahtani H; Shirah B; Ullah I; Al-Qahtani MH; Abdulkareem AA; Naseer MI
    Genes Dis; 2021 Jan; 8(1):110-114. PubMed ID: 33569519
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.
    Hiramoto K; Kawakami H; Inoue K; Seki T; Maruyama H; Morino H; Matsumoto M; Kurisu K; Sakai N
    Mov Disord; 2006 Sep; 21(9):1355-60. PubMed ID: 16763984
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.
    Kuipers DJS; Tufekcioglu Z; Bilgiç B; Olgiati S; Dremmen MHG; van IJcken WFJ; Breedveld GJ; Mancini GMS; Hanagasi HA; Emre M; Bonifati V
    Parkinsonism Relat Disord; 2019 Sep; 66():228-231. PubMed ID: 31431325
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.
    Walker MA; Lerman-Sagie T; Swoboda K; Lev D; Blumkin L
    Am J Med Genet A; 2019 Aug; 179(8):1575-1579. PubMed ID: 31168944
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
    Sasaki M; Ohba C; Iai M; Hirabayashi S; Osaka H; Hiraide T; Saitsu H; Matsumoto N
    J Neurol; 2015 May; 262(5):1278-84. PubMed ID: 25794864
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
    Mancini C; Nassani S; Guo Y; Chen Y; Giorgio E; Brussino A; Di Gregorio E; Cavalieri S; Lo Buono N; Funaro A; Pizio NR; Nmezi B; Kyttala A; Santorelli FM; Padiath QS; Hakonarson H; Zhang H; Brusco A
    J Neurol; 2015 Jan; 262(1):173-8. PubMed ID: 25359263
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila.
    Lorenzo DN; Li MG; Mische SE; Armbrust KR; Ranum LP; Hays TS
    J Cell Biol; 2010 Apr; 189(1):143-58. PubMed ID: 20368622
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
    Chakchouk I; Grati M; Bademci G; Bensaid M; Ma Q; Chakroun A; Foster J; Yan D; Duman D; Diaz-Horta O; Ghorbel A; Mittal R; Farooq A; Tekin M; Masmoudi S; Liu XZ
    Mol Genet Genomics; 2015 Aug; 290(4):1327-34. PubMed ID: 25633957
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Autosomal recessive spinocerebellar ataxia-20 due to a novel SNX14 variant in an Indian girl.
    Sait H; Moirangthem A; Agrawal V; Phadke SR
    Am J Med Genet A; 2022 Jun; 188(6):1909-1914. PubMed ID: 35195341
    [TBL] [Abstract][Full Text] [Related]  

  • 76. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery.
    Kyöstilä K; Cizinauskas S; Seppälä EH; Suhonen E; Jeserevics J; Sukura A; Syrjä P; Lohi H
    PLoS Genet; 2012; 8(6):e1002759. PubMed ID: 22719266
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
    Wiethoff S; Bettencourt C; Paudel R; Madon P; Liu YT; Hersheson J; Wadia N; Desai J; Houlden H
    Cerebellum; 2017 Feb; 16(1):262-267. PubMed ID: 26995604
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family.
    Algahtani H; Shirah B; Naseer MI
    Clin Neurol Neurosurg; 2024 May; 240():108271. PubMed ID: 38569247
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Novel homozygous
    Gaier ED; Sahai I; Wiggs JL; McGeeney B; Hoffman J; Peeler CE
    Ophthalmic Genet; 2019 Dec; 40(6):570-573. PubMed ID: 31928268
    [No Abstract]   [Full Text] [Related]  

  • 80. A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
    Gregianin E; Vazza G; Scaramel E; Boaretto F; Vettori A; Leonardi E; Tosatto SC; Manara R; Pegoraro E; Mostacciuolo ML
    Eur J Neurol; 2013 Nov; 20(11):1486-91. PubMed ID: 23800155
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 30.