BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

253 related articles for article (PubMed ID: 27782104)

  • 1. Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.
    Baumann M; Steichen-Gersdorf E; Krabichler B; Petersen BS; Weber U; Schmidt WM; Zschocke J; Müller T; Bittner RE; Janecke AR
    Eur J Hum Genet; 2017 Feb; 25(2):262-266. PubMed ID: 27782104
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With
    Qian N; Wei T; Yang W; Wang J; Zhang S; Jin S; Dong W; Hao W; Yang Y; Huang R
    Front Genet; 2022; 13():795188. PubMed ID: 35281832
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.
    Attali R; Warwar N; Israel A; Gurt I; McNally E; Puckelwartz M; Glick B; Nevo Y; Ben-Neriah Z; Melki J
    Hum Mol Genet; 2009 Sep; 18(18):3462-9. PubMed ID: 19542096
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.
    Duan X; Hao Y; Cao Z; Zhou C; Zhang J; Wang R; Sun S; Gu W
    Cerebellum; 2021 Feb; 20(1):74-82. PubMed ID: 32889669
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
    Ekhilevitch N; Kurolap A; Oz-Levi D; Mory A; Hershkovitz T; Ast G; Mandel H; Baris HN
    Clin Genet; 2016 Jul; 90(1):84-9. PubMed ID: 26661508
    [TBL] [Abstract][Full Text] [Related]  

  • 6. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
    Synofzik M; Smets K; Mallaret M; Di Bella D; Gallenmüller C; Baets J; Schulze M; Magri S; Sarto E; Mustafa M; Deconinck T; Haack T; Züchner S; Gonzalez M; Timmann D; Stendel C; Klopstock T; Durr A; Tranchant C; Sturm M; Hamza W; Nanetti L; Mariotti C; Koenig M; Schöls L; Schüle R; de Jonghe P; Anheim M; Taroni F; Bauer P
    Brain; 2016 May; 139(Pt 5):1378-93. PubMed ID: 27086870
    [TBL] [Abstract][Full Text] [Related]  

  • 7. SYNE1-ataxia: Novel genotypic and phenotypic findings.
    Indelicato E; Nachbauer W; Fauth C; Krabichler B; Schossig A; Eigentler A; Dichtl W; Wenning G; Wagner M; Fanciulli A; Janecke A; Boesch S
    Parkinsonism Relat Disord; 2019 May; 62():210-214. PubMed ID: 30573412
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.
    Wiethoff S; Hersheson J; Bettencourt C; Wood NW; Houlden H
    J Neurol; 2016 Aug; 263(8):1503-10. PubMed ID: 27178001
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
    Drury S; Boustred C; Tekman M; Stanescu H; Kleta R; Lench N; Chitty LS; Scott RH
    Am J Med Genet A; 2014 Jul; 164A(7):1777-83. PubMed ID: 24700531
    [TBL] [Abstract][Full Text] [Related]  

  • 10. First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report.
    Kamal NM; Alzeky AM; Omair MR; Attar RA; Alotaibi AM; Safar A; Alosaimi NS; Abosabie SAS
    Ital J Pediatr; 2022 Jun; 48(1):107. PubMed ID: 35739559
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient.
    Valentina Castillo J; Catherine Díaz S; Bustamante ML; Ferreira MG; Teive HAG; Miranda M
    Cerebellum; 2021 Dec; 20(6):938-941. PubMed ID: 33651373
    [TBL] [Abstract][Full Text] [Related]  

  • 12.
    Swan L; Cardinal J; Coman D
    Clin Pract; 2018 Jul; 8(3):1071. PubMed ID: 30275942
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.
    Karlsson WK; Højgaard JLS; Vilhelmsen A; Crone C; Andersen B; Law I; Møller LB; Nielsen TT; Nielsen EN; Krag T; Svenstrup K; Nielsen JE
    Cerebellum; 2022 Jun; 21(3):514-519. PubMed ID: 34318393
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel
    Böhm J; Malfatti E; Oates E; Jones K; Brochier G; Boland A; Deleuze JF; Romero NB; Laporte J
    J Med Genet; 2019 Sep; 56(9):617-621. PubMed ID: 30327447
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
    Delle Vedove A; Storbeck M; Heller R; Hölker I; Hebbar M; Shukla A; Magnusson O; Cirak S; Girisha KM; O'Driscoll M; Loeys B; Wirth B
    Am J Hum Genet; 2016 Nov; 99(5):1206-1216. PubMed ID: 27843126
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
    Zhang Q; Bethmann C; Worth NF; Davies JD; Wasner C; Feuer A; Ragnauth CD; Yi Q; Mellad JA; Warren DT; Wheeler MA; Ellis JA; Skepper JN; Vorgerd M; Schlotter-Weigel B; Weissberg PL; Roberts RG; Wehnert M; Shanahan CM
    Hum Mol Genet; 2007 Dec; 16(23):2816-33. PubMed ID: 17761684
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Characteristic clinical and ultrastructural findings in nesprinopathies.
    Kölbel H; Abicht A; Schwartz O; Katona I; Paulus W; Neuen-Jacob E; Weis J; Schara U
    Eur J Paediatr Neurol; 2019 Mar; 23(2):254-261. PubMed ID: 30626539
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.
    Haliloglu G; Becker K; Temucin C; Talim B; Küçükşahin N; Pergande M; Motameny S; Nürnberg P; Aydingoz U; Topaloglu H; Cirak S
    J Hum Genet; 2017 Apr; 62(4):497-501. PubMed ID: 27974811
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum.
    Holla VV; Surisetti BK; Prasad S; Pal PK
    Parkinsonism Relat Disord; 2021 Jun; 87():22-24. PubMed ID: 33933852
    [TBL] [Abstract][Full Text] [Related]  

  • 20. SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.
    Yucesan E; Ugur Iseri SA; Bilgic B; Gormez Z; Bakir Gungor B; Sarac A; Ozdemir O; Sagiroglu M; Gurvit H; Hanagasi H; Ozbek U
    Neurol Sci; 2017 Dec; 38(12):2203-2207. PubMed ID: 28687974
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.