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 *

182 related articles for article (PubMed ID: 34037996)

  • 1. Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations.
    Maselli RA; Wei DT; Hodgson TS; Sampson JB; Vazquez J; Smith HL; Pytel P; Ferns M
    Muscle Nerve; 2021 Aug; 64(2):219-224. PubMed ID: 34037996
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence.
    Maselli RA; van der Linden H; Ferns M
    Am J Med Genet A; 2020 Jul; 182(7):1744-1749. PubMed ID: 32250532
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
    Donkervoort S; Mohassel P; Laugwitz L; Zaki MS; Kamsteeg EJ; Maroofian R; Chao KR; Verschuuren-Bemelmans CC; Horber V; Fock AJM; McCarty RM; Jain MS; Biancavilla V; McMacken G; Nalls M; Voermans NC; Elbendary HM; Snyder M; Cai C; Lehky TJ; Stanley V; Iannaccone ST; Foley AR; Lochmüller H; Gleeson J; Houlden H; Haack TB; Horvath R; Bönnemann CG
    Am J Med Genet A; 2020 Oct; 182(10):2272-2283. PubMed ID: 32776697
    [TBL] [Abstract][Full Text] [Related]  

  • 4. How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.
    Lorenzoni PJ; Scola RH; Kay CSK; Werneck LC; Horvath R; Lochmüller H
    Neuromolecular Med; 2018 Jun; 20(2):205-214. PubMed ID: 29696584
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.
    Herrmann DN; Horvath R; Sowden JE; Gonzalez M; Sanchez-Mejias A; Guan Z; Whittaker RG; Almodovar JL; Lane M; Bansagi B; Pyle A; Boczonadi V; Lochmüller H; Griffin H; Chinnery PF; Lloyd TE; Littleton JT; Zuchner S
    Am J Hum Genet; 2014 Sep; 95(3):332-9. PubMed ID: 25192047
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
    Fionda L; Turon-Sans J; Fuentes Prior P; Bernal Noguera S; Cortés-Vicente E; López-Pérez MA; Gallardo E; Rojas-García R
    J Peripher Nerv Syst; 2021 Mar; 26(1):113-117. PubMed ID: 33320396
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.
    Selcen D; Ohkawara B; Shen XM; McEvoy K; Ohno K; Engel AG
    JAMA Neurol; 2015 Aug; 72(8):889-96. PubMed ID: 26052878
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.
    Maselli RA; Arredondo J; Vázquez J; Chong JX; Bamshad MJ; Nickerson DA; Lara M; Ng F; Lo VL; Pytel P; McDonald CM
    Ann N Y Acad Sci; 2018 Feb; 1413(1):119-125. PubMed ID: 29377152
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
    Rodríguez Cruz PM; Palace J; Beeson D
    Int J Mol Sci; 2018 Jun; 19(6):. PubMed ID: 29874875
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Congenital myasthenic syndromes.
    Eymard B; Hantaï D; Estournet B
    Handb Clin Neurol; 2013; 113():1469-80. PubMed ID: 23622369
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital Myasthenic Syndromes.
    Iyadurai SJP
    Neurol Clin; 2020 Aug; 38(3):541-552. PubMed ID: 32703467
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
    Nicole S; Chaouch A; Torbergsen T; Bauché S; de Bruyckere E; Fontenille MJ; Horn MA; van Ghelue M; Løseth S; Issop Y; Cox D; Müller JS; Evangelista T; Stålberg E; Ioos C; Barois A; Brochier G; Sternberg D; Fournier E; Hantaï D; Abicht A; Dusl M; Laval SH; Griffin H; Eymard B; Lochmüller H
    Brain; 2014 Sep; 137(Pt 9):2429-43. PubMed ID: 24951643
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Synaptotagmin can cause an immune-mediated model of Lambert-Eaton myasthenic syndrome in rats.
    Takamori M; Hamada T; Komai K; Takahashi M; Yoshida A
    Ann Neurol; 1994 Jan; 35(1):74-80. PubMed ID: 8285596
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital Myasthenic Syndromes in 2018.
    Engel AG
    Curr Neurol Neurosci Rep; 2018 Jun; 18(8):46. PubMed ID: 29892917
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital myasthenic syndrome: a brief review.
    Lorenzoni PJ; Scola RH; Kay CS; Werneck LC
    Pediatr Neurol; 2012 Mar; 46(3):141-8. PubMed ID: 22353287
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].
    Andreux F; Hantaï D; Eymard B
    Rev Neurol (Paris); 2004 Feb; 160(2):163-76. PubMed ID: 15034473
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20.
    Pardal-Fernández JM; Carrascosa-Romero MC; Álvarez S; Medina-Monzón MC; Caamaño MB; de Cabo C
    Neuromuscul Disord; 2018 Oct; 28(10):881-884. PubMed ID: 30172469
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2.
    Maselli RA; Wan J; Dunne V; Graves M; Baloh RW; Wollmann RL; Jen J
    Neurology; 2003 Dec; 61(12):1743-8. PubMed ID: 14694040
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical aspects of myasthenia explained.
    Verschuuren JJ; Palace J; Gilhus NE
    Autoimmunity; 2010 Aug; 43(5-6):344-52. PubMed ID: 20380587
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
    Belaya K; Rodríguez Cruz PM; Liu WW; Maxwell S; McGowan S; Farrugia ME; Petty R; Walls TJ; Sedghi M; Basiri K; Yue WW; Sarkozy A; Bertoli M; Pitt M; Kennett R; Schaefer A; Bushby K; Parton M; Lochmüller H; Palace J; Muntoni F; Beeson D
    Brain; 2015 Sep; 138(Pt 9):2493-504. PubMed ID: 26133662
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.