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 *

471 related articles for article (PubMed ID: 33714798)

  • 21. DOK7 congenital myasthenic syndrome responsive to oral salbutamol.
    Tayade K; Salunkhe M; Agarwal A; Radhakrishnan DM; Srivastava AK
    QJM; 2022 May; 115(5):323-324. PubMed ID: 35092298
    [No Abstract]   [Full Text] [Related]  

  • 22. DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.
    Klein A; Pitt MC; McHugh JC; Niks EH; Sewry CA; Phadke R; Feng L; Manzur AY; Tirupathi S; Devile C; Jayawant S; Finlayson S; Palace J; Muntoni F; Beeson D; Robb SA
    Neuromuscul Disord; 2013 Nov; 23(11):883-91. PubMed ID: 23831158
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy.
    Kao JC; Milone M; Selcen D; Shen XM; Engel AG; Liewluck T
    Neurology; 2018 Nov; 91(19):e1770-e1777. PubMed ID: 30291185
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
    Natera-de Benito D; Bestué M; Vilchez JJ; Evangelista T; Töpf A; García-Ribes A; Trujillo-Tiebas MJ; García-Hoyos M; Ortez C; Camacho A; Jiménez E; Dusl M; Abicht A; Lochmüller H; Colomer J; Nascimento A
    Neuromuscul Disord; 2016 Feb; 26(2):153-9. PubMed ID: 26782015
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Congenital Myasthenic Syndrome Caused by DOK7 Mutation in a Quinquagenarian Male with Calf Hypertrophy.
    Gomathy SB; Das A; Garg A; Srivastava AK
    J Clin Neuromuscul Dis; 2023 Sep; 25(1):51-54. PubMed ID: 37611271
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.
    Durmus H; Shen XM; Serdaroglu-Oflazer P; Kara B; Parman-Gulsen Y; Ozdemir C; Brengman J; Deymeer F; Engel AG
    Neuromuscul Disord; 2018 Apr; 28(4):315-322. PubMed ID: 29395675
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
    Mishra S; Nair KV; Shukla A
    Clin Dysmorphol; 2023 Oct; 32(4):162-167. PubMed ID: 37646703
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Limb girdle weakness responding to salbutamol: an Indian family with DOK7 mutation.
    Khadilkar S; Bhutada A; Nallamilli B; Hegde M
    Indian Pediatr; 2015 Mar; 52(3):243-4. PubMed ID: 25849006
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
    Rodríguez Cruz PM; Cossins J; Estephan EP; Munell F; Selby K; Hirano M; Maroofin R; Mehrjardi MYV; Chow G; Carr A; Manzur A; Robb S; Munot P; Wei Liu W; Banka S; Fraser H; De Goede C; Zanoteli E; Conti Reed U; Sage A; Gratacos M; Macaya A; Dusl M; Senderek J; Töpf A; Hofer M; Knight R; Ramdas S; Jayawant S; Lochmüller H; Palace J; Beeson D
    Brain; 2019 Jun; 142(6):1547-1560. PubMed ID: 31081514
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel
    Alsallum MS; Alshareef A; Abuzinadah AR; Bamaga AK; Dallol A
    Heliyon; 2021 May; 7(5):e06869. PubMed ID: 34027146
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN.
    Saito M; Ogasawara M; Inaba Y; Osawa Y; Nishioka M; Yamauchi S; Atsumi K; Takeuchi S; Imai K; Motobayashi M; Misawa Y; Iida A; Nishino I
    Brain Dev; 2022 Jan; 44(1):50-55. PubMed ID: 34565654
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Pregnancy in congenital myasthenic syndrome.
    Servais L; Baudoin H; Zehrouni K; Richard P; Sternberg D; Fournier E; Eymard B; Stojkovic T
    J Neurol; 2013 Mar; 260(3):815-9. PubMed ID: 23108489
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity.
    Espinoza IO; Reynoso C; Chávez G; Engel AG
    Medwave; 2019 Jun; 19(5):e7645. PubMed ID: 31226102
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Variable phenotypes associated with mutations in DOK7.
    Anderson JA; Ng JJ; Bowe C; McDonald C; Richman DP; Wollmann RL; Maselli RA
    Muscle Nerve; 2008 Apr; 37(4):448-56. PubMed ID: 18161030
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients.
    Gül Mert G; Özcan N; Hergüner Ö; Altunbaşak Ş; Incecik F; Bişgin A; Ceylaner S
    Acta Neurol Belg; 2021 Apr; 121(2):529-534. PubMed ID: 31773638
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.
    Cheli M; Brugnoni R; Gibertini S; Mantegazza R; Maggi L
    J Neuromuscul Dis; 2023; 10(3):449-458. PubMed ID: 37005892
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Anticholinesterase Therapy Worsening Head Drop and Limb Weakness Due to a Novel DOK7 Mutation.
    Lozowska D; Ringel SP; Winder TL; Liu J; Liewluck T
    J Clin Neuromuscul Dis; 2015 Dec; 17(2):72-7. PubMed ID: 26583494
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 24.