BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

144 related articles for article (PubMed ID: 14729415)

  • 1. Clinical and neurophysiological characteristics of congenital myasthenic syndromes presenting in early infancy.
    Zafeiriou DI; Pitt M; de Sousa C
    Brain Dev; 2004 Jan; 26(1):47-52. PubMed ID: 14729415
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
    Kinali M; Beeson D; Pitt MC; Jungbluth H; Simonds AK; Aloysius A; Cockerill H; Davis T; Palace J; Manzur AY; Jimenez-Mallebrera C; Sewry C; Muntoni F; Robb SA
    J Neuroimmunol; 2008 Sep; 201-202():6-12. PubMed ID: 18707767
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The natural history and ophthalmic involvement in childhood myasthenia gravis at the hospital for sick children.
    Mullaney P; Vajsar J; Smith R; Buncic JR
    Ophthalmology; 2000 Mar; 107(3):504-10. PubMed ID: 10711889
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.
    Jephson CG; Mills NA; Pitt MC; Beeson D; Aloysius A; Muntoni F; Robb SA; Bailey CM
    Int J Pediatr Otorhinolaryngol; 2010 Sep; 74(9):991-4. PubMed ID: 20554332
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
    Mihaylova V; Müller JS; Vilchez JJ; Salih MA; Kabiraj MM; D'Amico A; Bertini E; Wölfle J; Schreiner F; Kurlemann G; Rasic VM; Siskova D; Colomer J; Herczegfalvi A; Fabriciova K; Weschke B; Scola R; Hoellen F; Schara U; Abicht A; Lochmüller H
    Brain; 2008 Mar; 131(Pt 3):747-59. PubMed ID: 18180250
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Respiratory insufficiency as a presenting symptom of congenital myasthenic syndromes.
    van den Udenhout F; Merkus P; Verhaagen-van den Akker S; Schouten M; Erasmus C; Braakman H
    Acta Paediatr; 2023 May; 112(5):1091-1096. PubMed ID: 36718955
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Clinical features of congenital myasthenic syndrome in Japan].
    Irahara K; Komaki H; Honda R; Okumura A; Shiraishi K; Kobayashi Y; Azuma Y; Nakata T; Ohya Y; Sasaki M
    No To Hattatsu; 2012 Nov; 44(6):450-4. PubMed ID: 23240525
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype.
    Polavarapu K; Vengalil S; Preethish-Kumar V; Arunachal G; Nashi S; Mohan D; Chawla T; Bardhan M; Nandeesh B; Gupta P; Gowda VK; Lochmüller H; Nalini A
    Eur J Paediatr Neurol; 2021 Mar; 31():54-60. PubMed ID: 33631708
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
    Rodríguez Cruz PM; Belaya K; Basiri K; Sedghi M; Farrugia ME; Holton JL; Liu WW; Maxwell S; Petty R; Walls TJ; Kennett R; Pitt M; Sarkozy A; Parton M; Lochmüller H; Muntoni F; Palace J; Beeson D
    J Neurol Neurosurg Psychiatry; 2016 Aug; 87(8):802-9. PubMed ID: 27147698
    [TBL] [Abstract][Full Text] [Related]  

  • 13. COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.
    Hesami O; Ramezani M; Ghasemi A; Fatehi F; Okhovat AA; Ziaadini B; Kariminejad A; Nafissi S
    Orphanet J Rare Dis; 2024 Mar; 19(1):113. PubMed ID: 38475910
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].
    Eymard B; Stojkovic T; Sternberg D; Richard P; Nicole S; Fournier E; Béhin A; Laforêt P; Servais L; Romero N; Fardeau M; Hantaï D;
    Rev Neurol (Paris); 2013 Feb; 169 Suppl 1():S45-55. PubMed ID: 23452772
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases].
    Liu ZM; Fang F; Ding CH; Zhang WH; Deng J; Chen CH; Wang X; Liu J; Li Z; Jia XL; Zeng JS; Qian SY
    Zhonghua Er Ke Za Zhi; 2018 Mar; 56(3):216-220. PubMed ID: 29518833
    [No Abstract]   [Full Text] [Related]  

  • 17. [Congenital myasthenic syndromes. Clinical and electromyographic evaluation].
    Martin Santidrian MA; Prats Viñas JM; Garaizar Axpe C; Ruiz Espinosa C
    An Esp Pediatr; 2002 Jan; 56(1):10-6. PubMed ID: 11792263
    [TBL] [Abstract][Full Text] [Related]  

  • 18. VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.
    Yıldırım M; Yarenci GB; Genç MB; Uçar Çİ; Bayav S; Tekin MN; Bektaş Ö; Teber S
    Neuropediatrics; 2024 Jun; 55(3):200-204. PubMed ID: 38531369
    [TBL] [Abstract][Full Text] [Related]  

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

  • 20. DOK7 congenital myasthenic syndrome.
    Palace J
    Ann N Y Acad Sci; 2012 Dec; 1275():49-53. PubMed ID: 23278577
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.