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 *

193 related articles for article (PubMed ID: 26130016)

  • 1. Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family.
    Cen ZD; Xie F; Lou DN; Lu XJ; Ouyang ZY; Liu L; Cao J; Li D; Yin HM; Wang ZJ; Xiao JF; Luo W
    Am J Med Genet B Neuropsychiatr Genet; 2015 Oct; 168(7):595-9. PubMed ID: 26130016
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances.
    Cen ZD; Xie F; Xiao JF; Luo W
    Seizure; 2016 Jan; 34():83-9. PubMed ID: 26751243
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.
    Licchetta L; Pippucci T; Bisulli F; Cantalupo G; Magini P; Alvisi L; Baldassari S; Martinelli P; Naldi I; Vanni N; Liguori R; Seri M; Tinuper P
    Epilepsia; 2013 Jul; 54(7):1298-306. PubMed ID: 23663087
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1.
    Cen Z; Jiang Z; Chen Y; Zheng X; Xie F; Yang X; Lu X; Ouyang Z; Wu H; Chen S; Yin H; Qiu X; Wang S; Ding M; Tang Y; Yu F; Li C; Wang T; Ishiura H; Tsuji S; Jiao C; Liu C; Xiao J; Luo W
    Brain; 2018 Aug; 141(8):2280-2288. PubMed ID: 29939203
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p.
    Depienne C; Magnin E; Bouteiller D; Stevanin G; Saint-Martin C; Vidailhet M; Apartis E; Hirsch E; LeGuern E; Labauge P; Rumbach L
    Neurology; 2010 Jun; 74(24):2000-3. PubMed ID: 20548044
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy.
    Gao L; Li L; Ye J; Zhu X; Shen N; Zhang X; Wang D; Gao Y; Lin H; Wang Y; Liu Y
    Seizure; 2016 Oct; 41():81-5. PubMed ID: 27513994
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.
    Mori S; Nakamura M; Yasuda T; Ueno S; Kaneko S; Sano A
    J Hum Genet; 2011 Oct; 56(10):742-7. PubMed ID: 21850007
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole exome sequencing reveals novel NOV and DCAF13 variants in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy.
    Lin H; Hu N; Zhang Y; Wang Y; Macdonald RL
    Neurosci Lett; 2018 Sep; 684():115-120. PubMed ID: 30003937
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Chinese benign adult familial myoclonic epilepsy pedigree suggesting linkage to chromosome 5p15.31-p15.1.
    Li J; Hu X; Chen Q; Zhang Y; Zhang Y; Hu G
    Cell Biochem Biophys; 2014 Jul; 69(3):627-31. PubMed ID: 24549855
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family.
    Magnin E; Vidailhet M; Depienne C; Saint-Martin C; Bouteiller D; LeGuern E; Apartis E; Rumbach L; Labauge P
    Rev Neurol (Paris); 2009 Oct; 165(10):812-20. PubMed ID: 19616813
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Long-read sequencing identified intronic repeat expansions in
    Zeng S; Zhang MY; Wang XJ; Hu ZM; Li JC; Li N; Wang JL; Liang F; Yang Q; Liu Q; Fang L; Hao JW; Shi FD; Ding XB; Teng JF; Yin XM; Jiang H; Liao WP; Liu JY; Wang K; Xia K; Tang BS
    J Med Genet; 2019 Apr; 56(4):265-270. PubMed ID: 30194086
    [TBL] [Abstract][Full Text] [Related]  

  • 12. δ-Catenin (
    van Rootselaar AF; Groffen AJ; de Vries B; Callenbach PMC; Santen GWE; Koelewijn S; Vijfhuizen LS; Buijink A; Tijssen MAJ; van den Maagdenberg AMJM
    Neurology; 2017 Dec; 89(23):2341-2350. PubMed ID: 29127138
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
    Martí-Massó JF; Bergareche A; Makarov V; Ruiz-Martinez J; Gorostidi A; López de Munain A; Poza JJ; Striano P; Buxbaum JD; Paisán-Ruiz C
    J Mol Med (Berl); 2013 Dec; 91(12):1399-406. PubMed ID: 23955123
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy.
    Cen Z; Huang C; Yin H; Ding X; Xie F; Lu X; Ouyang Z; Lou Y; Qiu X; Wang Z; Xiao J; Ding M; Luo W
    Mov Disord; 2016 Nov; 31(11):1704-1710. PubMed ID: 27613677
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Intronic (TTTGA)
    Cen Z; Chen Y; Yang D; Zhu Q; Chen S; Chen X; Wang B; Xie F; Ouyang Z; Jiang Z; Fu A; Hu B; Yin H; Qiu X; Yu F; Du X; Hao W; Liu Y; Wang H; Wang L; Yu X; Xiao Y; Liu C; Xiao J; Zhou Y; Yang W; Zhang B; Luo W
    Mov Disord; 2019 Oct; 34(10):1571-1576. PubMed ID: 31483537
    [TBL] [Abstract][Full Text] [Related]  

  • 16. TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy.
    Lei XX; Liu Q; Lu Q; Huang Y; Zhou XQ; Sun HY; Wu LW; Cui LY; Zhang X
    Eur J Neurol; 2019 Mar; 26(3):513-518. PubMed ID: 30351492
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.
    Yeetong P; Ausavarat S; Bhidayasiri R; Piravej K; Pasutharnchat N; Desudchit T; Chunharas C; Loplumlert J; Limotai C; Suphapeetiporn K; Shotelersuk V
    Eur J Hum Genet; 2013 Feb; 21(2):225-8. PubMed ID: 22713812
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME).
    Labauge P; Amer LO; Simonetta-Moreau M; Attané F; Tannier C; Clanet M; Castelnovo G; An-Gourfinkel I; Agid Y; Brice A; Ducros A; LeGuern E
    Neurology; 2002 Mar; 58(6):941-4. PubMed ID: 11914412
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Familial cortical myoclonic tremor with epilepsy: TTTCA/TTTTA repeat expansions and expanding phenotype in two Chinese families.
    Zhang Y; Xiong W; Lu L; Zhou D
    Brain Res; 2020 Jun; 1737():146796. PubMed ID: 32194077
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
    Stogmann E; Reinthaler E; Eltawil S; El Etribi MA; Hemeda M; El Nahhas N; Gaber AM; Fouad A; Edris S; Benet-Pages A; Eck SH; Pataraia E; Mei D; Brice A; Lesage S; Guerrini R; Zimprich F; Strom TM; Zimprich A
    Brain; 2013 Apr; 136(Pt 4):1155-60. PubMed ID: 23518707
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.