BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 31255525)

  • 1. Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates.
    Luo HY; Zhao L; Mao CY; Yang ZH; Yang J; Wang YL; Niu HX; Liu YT; Shi CH; Xu YM
    Neuromuscul Disord; 2019 Jul; 29(7):549-553. PubMed ID: 31255525
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.
    Jiang K; Zheng Y; Lin J; Wu X; Yu Y; Zhu M; Fang X; Zhou M; Li X; Hong D
    Brain Behav; 2022 Feb; 12(2):e2469. PubMed ID: 34978387
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
    Guergueltcheva V; Müller JS; Dusl M; Senderek J; Oldfors A; Lindbergh C; Maxwell S; Colomer J; Mallebrera CJ; Nascimento A; Vilchez JJ; Muelas N; Kirschner J; Nafissi S; Kariminejad A; Nilipour Y; Bozorgmehr B; Najmabadi H; Rodolico C; Sieb JP; Schlotter B; Schoser B; Herrmann R; Voit T; Steinlein OK; Najafi A; Urtizberea A; Soler DM; Muntoni F; Hanna MG; Chaouch A; Straub V; Bushby K; Palace J; Beeson D; Abicht A; Lochmüller H
    J Neurol; 2012 May; 259(5):838-50. PubMed ID: 21975507
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations.
    Huh SY; Kim HS; Jang HJ; Park YE; Kim DS
    Muscle Nerve; 2012 Oct; 46(4):600-4. PubMed ID: 22987706
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
    Bauché S; Vellieux G; Sternberg D; Fontenille MJ; De Bruyckere E; Davoine CS; Brochier G; Messéant J; Wolf L; Fardeau M; Lacène E; Romero N; Koenig J; Fournier E; Hantaï D; Streichenberger N; Manel V; Lacour A; Nadaj-Pakleza A; Sukno S; Bouhour F; Laforêt P; Fontaine B; Strochlic L; Eymard B; Chevessier F; Stojkovic T; Nicole S
    J Neurol; 2017 Aug; 264(8):1791-1803. PubMed ID: 28712002
    [TBL] [Abstract][Full Text] [Related]  

  • 6. GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.
    Selcen D; Shen XM; Milone M; Brengman J; Ohno K; Deymeer F; Finkel R; Rowin J; Engel AG
    Neurology; 2013 Jul; 81(4):370-8. PubMed ID: 23794683
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles.
    Ma Y; Xiong T; Lei G; Ding J; Yang R; Li Z; Guo J; Shen D
    Neurol Sci; 2021 Aug; 42(8):3485-3490. PubMed ID: 33438142
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
    Maselli RA; Arredondo J; Nguyen J; Lara M; Ng F; Ngo M; Pham JM; Yi Q; Stajich JM; McDonald K; Hauser MA; Wollmann RL
    Clin Genet; 2014 Feb; 85(2):166-71. PubMed ID: 23488891
    [TBL] [Abstract][Full Text] [Related]  

  • 9. GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
    Mensch A; Cordts I; Scholle L; Joshi PR; Kleeberg K; Emmer A; Beck-Woedl S; Park J; Haack TB; Stoltenburg-Didinger G; Zierz S; Deschauer M
    J Neuromuscul Dis; 2022; 9(4):533-541. PubMed ID: 35694932
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
    Luo S; Cai S; Maxwell S; Yue D; Zhu W; Qiao K; Zhu Z; Zhou L; Xi J; Lu J; Beeson D; Zhao C
    Neuromuscul Disord; 2017 Jun; 27(6):557-564. PubMed ID: 28433477
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
    Zoltowska K; Webster R; Finlayson S; Maxwell S; Cossins J; Müller J; Lochmüller H; Beeson D
    Hum Mol Genet; 2013 Jul; 22(14):2905-13. PubMed ID: 23569079
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.
    Brady S; Healy EG; Gang Q; Parton M; Quinlivan R; Jacob S; Curtis E; Al-Sarraj S; Sewry CA; Hanna MG; Houlden H; Beeson D; Holton JL
    J Neuropathol Exp Neurol; 2016 Dec; 75(12):1171-1178. PubMed ID: 27941137
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
    Müller JS; Herczegfalvi A; Vilchez JJ; Colomer J; Bachinski LL; Mihaylova V; Santos M; Schara U; Deschauer M; Shevell M; Poulin C; Dias A; Soudo A; Hietala M; Aärimaa T; Krahe R; Karcagi V; Huebner A; Beeson D; Abicht A; Lochmüller H
    Brain; 2007 Jun; 130(Pt 6):1497-506. PubMed ID: 17439981
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation.
    Matsumoto C; Mori-Yoshimura M; Noguchi S; Endo Y; Oya Y; Murata M; Nishino I; Takahashi Y
    Brain Dev; 2019 May; 41(5):470-473. PubMed ID: 30846217
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
    Finlayson S; Palace J; Belaya K; Walls TJ; Norwood F; Burke G; Holton JL; Pascual-Pascual SI; Cossins J; Beeson D
    J Neurol Neurosurg Psychiatry; 2013 Oct; 84(10):1119-25. PubMed ID: 23447650
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases.
    Rodolico C; Toscano A; Autunno M; Messina S; Nicolosi C; Aguennouz M; Laurà M; Girlanda P; Messina C; Vita G
    Neuromuscul Disord; 2002 Dec; 12(10):964-9. PubMed ID: 12467753
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).
    Chen Q; Müller JS; Pang PC; Laval SH; Haslam SM; Lochmüller H; Dell A
    Biomolecules; 2015 Oct; 5(4):2758-81. PubMed ID: 26501342
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Leukoencephalopathy due to variants in
    Helman G; Sharma S; Crawford J; Patra B; Jain P; Bent SJ; Urtizberea JA; Saran RK; Taft RJ; van der Knaap MS; Simons C
    Neurology; 2019 Feb; 92(6):e587-e593. PubMed ID: 30635494
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical features of the DOK7 neuromuscular junction synaptopathy.
    Palace J; Lashley D; Newsom-Davis J; Cossins J; Maxwell S; Kennett R; Jayawant S; Yamanashi Y; Beeson D
    Brain; 2007 Jun; 130(Pt 6):1507-15. PubMed ID: 17452375
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.
    Tian WT; Zhou HY; Zhan FX; Zhu ZY; Yang J; Chen SD; Luan XH; Cao L
    Ann Clin Transl Neurol; 2019 Jun; 6(6):1062-1071. PubMed ID: 31211170
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.