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 *

152 related articles for article (PubMed ID: 30719842)

  • 1. Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.
    Murali C; Li D; Grand K; Hakonarson H; Bhoj E
    Am J Med Genet A; 2019 Apr; 179(4):655-658. PubMed ID: 30719842
    [TBL] [Abstract][Full Text] [Related]  

  • 2. MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
    Wilbe M; Ekvall S; Eurenius K; Ericson K; Casar-Borota O; Klar J; Dahl N; Ameur A; Annerén G; Bondeson ML
    J Med Genet; 2015 Mar; 52(3):195-202. PubMed ID: 25612909
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
    Cocanougher BT; Liu SW; Francescatto L; Behura A; Anneling M; Jackson DG; Deak KL; Hornik CD; ElMallah MK; Pizoli CE; Smith EC; Tan KGQ; McDonald MT
    HGG Adv; 2024 Jul; 5(3):100288. PubMed ID: 38566418
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
    Gallenmüller C; Müller-Felber W; Dusl M; Stucka R; Guergueltcheva V; Blaschek A; von der Hagen M; Huebner A; Müller JS; Lochmüller H; Abicht A
    Neuromuscul Disord; 2014 Jan; 24(1):31-5. PubMed ID: 24183479
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK-Congenital Myasthenic Syndrome.
    Pinto MV; Saw JL; Milone M
    Front Neurol; 2019; 10():1300. PubMed ID: 31920924
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.
    Giarrana ML; Joset P; Sticht H; Robb S; Steindl K; Rauch A; Klein A
    Muscle Nerve; 2015 Oct; 52(4):668-73. PubMed ID: 25900532
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
    Owen D; Töpf A; Preethish-Kumar V; Lorenzoni PJ; Vroling B; Scola RH; Dias-Tosta E; Geraldo A; Polavarapu K; Nashi S; Cox D; Evangelista T; Dawson J; Thompson R; Senderek J; Laurie S; Beltran S; Gut M; Gut I; Nalini A; Lochmüller H
    Am J Med Genet A; 2018 Jul; 176(7):1594-1601. PubMed ID: 29704306
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review.
    Liu Y; Qiao K; Yan C; Song J; Huan X; Luo S; Lu J; Zhao C; Xi J
    J Clin Neurosci; 2020 Jun; 76():161-165. PubMed ID: 32253145
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Overview: MuSK/Dok-7].
    Motomura M; Fukuda T; Yoshimura T; Tsujihata M
    Nihon Rinsho; 2008 Jun; 66(6):1140-8. PubMed ID: 18540360
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two cases of congenital myasthenic syndrome with vocal cord paralysis.
    Al-Shahoumi R; Brady LI; Schwartzentruber J; Tarnopolsky MA
    Neurology; 2015 Mar; 84(12):1281-2. PubMed ID: 25695962
    [No Abstract]   [Full Text] [Related]  

  • 11. [Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene].
    Chevessier F; Faraut B; Ravel-Chapuis A; Richard P; Gaudon K; Bauché S; Prioleau C; Herbst R; Goillot E; Ioos C; Azulay JP; Attarian S; Leroy JP; Fournier E; Legay C; Schaeffer L; Koenig J; Fardeau M; Eymard B; Pouget J; Hantaï D
    J Soc Biol; 2005; 199(1):61-77. PubMed ID: 16114265
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Congenital myasthenic syndrome from a
    McLean A; Wilson I
    Pract Neurol; 2024 May; 24(3):238-240. PubMed ID: 37985124
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.
    Chevessier F; Girard E; Molgó J; Bartling S; Koenig J; Hantaï D; Witzemann V
    Hum Mol Genet; 2008 Nov; 17(22):3577-95. PubMed ID: 18718936
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review.
    Luan X; Tian W; Cao L
    Clin Neurol Neurosurg; 2016 Nov; 150():41-45. PubMed ID: 27588369
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.
    Hamuro J; Higuchi O; Okada K; Ueno M; Iemura S; Natsume T; Spearman H; Beeson D; Yamanashi Y
    J Biol Chem; 2008 Feb; 283(9):5518-24. PubMed ID: 18165682
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome.
    Milhem RM; Al-Gazali L; Ali BR
    Int J Biochem Cell Biol; 2015 Mar; 60():119-29. PubMed ID: 25562515
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations.
    Ostos F; Alcantara Miranda P; Hernández-Laín A; Domínguez-González C
    J Clin Neuromuscul Dis; 2020 Jun; 21(4):222-224. PubMed ID: 32453097
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
    Tan-Sindhunata MB; Mathijssen IB; Smit M; Baas F; de Vries JI; van der Voorn JP; Kluijt I; Hagen MA; Blom EW; Sistermans E; Meijers-Heijboer H; Waisfisz Q; Weiss MM; Groffen AJ
    Eur J Hum Genet; 2015 Sep; 23(9):1151-7. PubMed ID: 25537362
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation.
    Jiang L; Wang SC; Zhang J; Han FG; Zhao J; Xu Y
    Pharmgenomics Pers Med; 2023; 16():373-379. PubMed ID: 37091828
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.