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 *

144 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.