BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

270 related articles for article (PubMed ID: 31693170)

  • 1. Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.
    Richmond CM; Leventer R; Ryan MM; Delatycki MB
    Clin Genet; 2020 Mar; 97(3):516-520. PubMed ID: 31693170
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.
    Paternoster L; Soblet J; Aeby A; De Tiège X; Goldman S; Yue WW; Coppens S; Smits G; Vilain C; Deconinck N
    Am J Med Genet A; 2020 Nov; 182(11):2685-2693. PubMed ID: 32808436
    [TBL] [Abstract][Full Text] [Related]  

  • 3. CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.
    Türkmen S; Guo G; Garshasbi M; Hoffmann K; Alshalah AJ; Mischung C; Kuss A; Humphrey N; Mundlos S; Robinson PN
    PLoS Genet; 2009 May; 5(5):e1000487. PubMed ID: 19461874
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.
    Kawarai T; Tajima A; Kuroda Y; Saji N; Orlacchio A; Terasawa H; Shimizu H; Kita Y; Izumi Y; Mitsui T; Imoto I; Kaji R
    J Neurol Neurosurg Psychiatry; 2016 Jun; 87(6):656-62. PubMed ID: 26157035
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.
    Ali BR; Silhavy JL; Gleeson MJ; Gleeson JG; Al-Gazali L
    BMC Med Genet; 2012 Sep; 13():80. PubMed ID: 22973972
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
    Kaiyrzhanov R; Ortigoza-Escobar JD; Stringer BW; Ganieva M; Gowda VK; Srinivasan VM; Macaya A; Laner A; Onbool E; Al-Shammari R; Al-Owain M; Deconinck N; Vilain C; Dontaine P; Self E; Akram R; Hussain G; Baig SM; Iqbal J; Salpietro V; Neshatdoust M; Kasiri M; Yesil G; Uygur T; Pysden K; Berry IR; Alves CA; Giacomotto J; Houlden H; Maroofian R
    Mov Disord; 2024 Jun; 39(6):983-995. PubMed ID: 38581205
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.
    Mohamadian M; Ghandil P; Naseri M; Bahrami A; Momen AA
    J Clin Lab Anal; 2020 Nov; 34(11):e23484. PubMed ID: 33079427
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.
    Micalizzi A; Moroni I; Ginevrino M; Biagini T; Mazza T; Romani M; Valente EM
    Neurogenetics; 2016 Jul; 17(3):191-5. PubMed ID: 27251579
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.
    Kaya N; Aldhalaan H; Al-Younes B; Colak D; Shuaib T; Al-Mohaileb F; Al-Sugair A; Nester M; Al-Yamani S; Al-Bakheet A; Al-Hashmi N; Al-Sayed M; Meyer B; Jungbluth H; Al-Owain M
    Am J Med Genet B Neuropsychiatr Genet; 2011 Dec; 156B(7):826-34. PubMed ID: 21812104
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy.
    Li K; Jin R; Wu X
    Eur J Med Genet; 2020 Jan; 63(1):103623. PubMed ID: 30684668
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
    Guissart C; Latypova X; Rollier P; Khan TN; Stamberger H; McWalter K; Cho MT; Kjaergaard S; Weckhuysen S; Lesca G; Besnard T; Õunap K; Schema L; Chiocchetti AG; McDonald M; de Bellescize J; Vincent M; Van Esch H; Sattler S; Forghani I; Thiffault I; Freitag CM; Barbouth DS; Cadieux-Dion M; Willaert R; Guillen Sacoto MJ; Safina NP; Dubourg C; Grote L; Carré W; Saunders C; Pajusalu S; Farrow E; Boland A; Karlowicz DH; Deleuze JF; Wojcik MH; Pressman R; Isidor B; Vogels A; Van Paesschen W; Al-Gazali L; Al Shamsi AM; Claustres M; Pujol A; Sanders SJ; Rivier F; Leboucq N; Cogné B; Sasorith S; Sanlaville D; Retterer K; Odent S; Katsanis N; Bézieau S; Koenig M; Davis EE; Pasquier L; Küry S
    Am J Hum Genet; 2018 May; 102(5):744-759. PubMed ID: 29656859
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.
    Cabet S; Putoux A; Carneiro M; Labalme A; Sanlaville D; Guibaud L; Lesca G
    Eur J Med Genet; 2019 Oct; 62(10):103726. PubMed ID: 31319223
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
    Ali Z; Zulfiqar S; Klar J; Wikström J; Ullah F; Khan A; Abdullah U; Baig S; Dahl N
    BMC Med Genet; 2017 Dec; 18(1):144. PubMed ID: 29207948
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).
    Boycott KM; Bonnemann C; Herz J; Neuert S; Beaulieu C; Scott JN; Venkatasubramanian A; Parboosingh JS
    J Child Neurol; 2009 Oct; 24(10):1310-5. PubMed ID: 19332571
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
    Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
    Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.
    Saida K; Tamaoki J; Sasaki M; Haniffa M; Koshimizu E; Sengoku T; Maeda H; Kikuchi M; Yokoyama H; Sakamoto M; Iwama K; Sekiguchi F; Hamanaka K; Fujita A; Mizuguchi T; Ogata K; Miyake N; Miyatake S; Kobayashi M; Matsumoto N
    Clin Genet; 2021 Dec; 100(6):722-730. PubMed ID: 34569062
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.
    Carvalho DR; Medeiros JEG; Ribeiro DSM; Martins BJAF; Sobreira NLM
    Eur J Med Genet; 2018 Mar; 61(3):134-138. PubMed ID: 29169895
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.
    Almatrafi A; Umair M; Eldardear A; Al-Luqmani M; Hashmi JA; Albalawi AM; Alfadhel M; Ramzan K; Basit S
    J Gene Med; 2020 Aug; 22(8):e3196. PubMed ID: 32246862
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
    Thomas AC; Williams H; Setó-Salvia N; Bacchelli C; Jenkins D; O'Sullivan M; Mengrelis K; Ishida M; Ocaka L; Chanudet E; James C; Lescai F; Anderson G; Morrogh D; Ryten M; Duncan AJ; Pai YJ; Saraiva JM; Ramos F; Farren B; Saunders D; Vernay B; Gissen P; Straatmaan-Iwanowska A; Baas F; Wood NW; Hersheson J; Houlden H; Hurst J; Scott R; Bitner-Glindzicz M; Moore GE; Sousa SB; Stanier P
    Am J Hum Genet; 2014 Nov; 95(5):611-21. PubMed ID: 25439728
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.