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 *

136 related articles for article (PubMed ID: 32253145)

  • 1. 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]  

  • 2. 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]  

  • 3. [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]  

  • 4. 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]  

  • 5. 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]  

  • 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. Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
    Maselli RA; Arredondo J; Cagney O; Ng JJ; Anderson JA; Williams C; Gerke BJ; Soliven B; Wollmann RL
    Hum Mol Genet; 2010 Jun; 19(12):2370-9. PubMed ID: 20371544
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK.
    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
    Acta Myol; 2005 Oct; 24(2):55-9. PubMed ID: 16550915
    [TBL] [Abstract][Full Text] [Related]  

  • 10. MUSK, a new target for mutations causing congenital myasthenic syndrome.
    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
    Hum Mol Genet; 2004 Dec; 13(24):3229-40. PubMed ID: 15496425
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.
    Ben Ammar A; Soltanzadeh P; Bauché S; Richard P; Goillot E; Herbst R; Gaudon K; Huzé C; Schaeffer L; Yamanashi Y; Higuchi O; Taly A; Koenig J; Leroy JP; Hentati F; Najmabadi H; Kahrizi K; Ilkhani M; Fardeau M; Eymard B; Hantaï D
    PLoS One; 2013; 8(1):e53826. PubMed ID: 23326516
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
    Rodríguez Cruz PM; Cossins J; Cheung J; Maxwell S; Jayawant S; Herbst R; Waithe D; Kornev AP; Palace J; Beeson D
    Hum Mutat; 2020 Mar; 41(3):619-631. PubMed ID: 31765060
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Congenital myasthenic syndrome: Ten years clinical experience from a quaternary care south-Indian hospital.
    Wadwekar V; Nair SS; Tandon V; Kuruvilla A; Nair M
    J Clin Neurosci; 2020 Feb; 72():238-243. PubMed ID: 31889643
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation.
    Sieb JP; Kraner S; Schrank B; Reitter B; Goebel TH; Tzartos SJ; Steinlein OK
    Ann Neurol; 2000 Sep; 48(3):379-83. PubMed ID: 10976646
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
    Mihaylova V; Salih MA; Mukhtar MM; Abuzeid HA; El-Sadig SM; von der Hagen M; Huebner A; Nürnberg G; Abicht A; Müller JS; Lochmüller H; Guergueltcheva V
    Neurology; 2009 Dec; 73(22):1926-8. PubMed ID: 19949040
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.