BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

220 related articles for article (PubMed ID: 28221305)

  • 1. A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.
    Karakaya M; Ceyhan-Birsoy O; Beggs AH; Topaloglu H
    J Clin Neuromuscul Dis; 2017 Mar; 18(3):147-151. PubMed ID: 28221305
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.
    Xi J; Yan C; Liu WW; Qiao K; Lin J; Tian X; Wu H; Lu J; Wong LJ; Beeson D; Zhao C
    Orphanet J Rare Dis; 2017 Dec; 12(1):182. PubMed ID: 29258548
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.
    Maselli RA; Fernandez JM; Arredondo J; Navarro C; Ngo M; Beeson D; Cagney O; Williams DC; Wollmann RL; Yarov-Yarovoy V; Ferns MJ
    Hum Genet; 2012 Jul; 131(7):1123-35. PubMed ID: 22205389
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle.
    Zhang Y; Dai Y; Han JN; Chen ZH; Ling L; Pu CQ; Cui LY; Huang XS
    Chin Med J (Engl); 2017 Oct; 130(19):2279-2282. PubMed ID: 28937031
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A valid mouse model of AGRIN-associated congenital myasthenic syndrome.
    Bogdanik LP; Burgess RW
    Hum Mol Genet; 2011 Dec; 20(23):4617-33. PubMed ID: 21890498
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.
    Ohkawara B; Shen X; Selcen D; Nazim M; Bril V; Tarnopolsky MA; Brady L; Fukami S; Amato AA; Yis U; Ohno K; Engel AG
    JCI Insight; 2020 Apr; 5(7):. PubMed ID: 32271162
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel LG1 Mutations in Agrin Causing Congenital Myasthenia Syndrome.
    Xia P; Xie F; Zhou ZJ; Lv W
    Intern Med; 2022 Mar; 61(6):887-890. PubMed ID: 34433720
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.
    Huzé C; Bauché S; Richard P; Chevessier F; Goillot E; Gaudon K; Ben Ammar A; Chaboud A; Grosjean I; Lecuyer HA; Bernard V; Rouche A; Alexandri N; Kuntzer T; Fardeau M; Fournier E; Brancaccio A; Rüegg MA; Koenig J; Eymard B; Schaeffer L; Hantaï D
    Am J Hum Genet; 2009 Aug; 85(2):155-67. PubMed ID: 19631309
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel NtA and LG1 Mutations in Agrin in a Single Patient Causes Congenital Myasthenic Syndrome.
    Wang A; Xiao Y; Huang P; Liu L; Xiong J; Li J; Mao D; Liu L
    Front Neurol; 2020; 11():239. PubMed ID: 32328026
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
    Jacquier A; Risson V; Simonet T; Roussange F; Lacoste N; Ribault S; Carras J; Theuriet J; Girard E; Grosjean I; Le Goff L; Kröger S; Meltoranta J; Bauché S; Sternberg D; Fournier E; Kostera-Pruszczyk A; O'Connor E; Eymard B; Lochmüller H; Martinat C; Schaeffer L
    Acta Neuropathol; 2022 Oct; 144(4):707-731. PubMed ID: 35948834
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Null variants in AGRN cause lethal fetal akinesia deformation sequence.
    Geremek M; Dudarewicz L; Obersztyn E; Paczkowska M; Smyk M; Sobecka K; Nowakowska B
    Clin Genet; 2020 Apr; 97(4):634-638. PubMed ID: 31730230
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.
    Matlik HN; Milhem RM; Saadeldin IY; Al-Jaibeji HS; Al-Gazali L; Ali BR
    Pediatr Neurol; 2014 Jul; 51(1):165-9. PubMed ID: 24938146
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
    Müller JS; Mildner G; Müller-Felber W; Schara U; Krampfl K; Petersen B; Petrova S; Stucka R; Mortier W; Bufler J; Kurlemann G; Huebner A; Merlini L; Lochmüller H; Abicht A
    Neurology; 2003 Jun; 60(11):1805-10. PubMed ID: 12796535
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
    Masingue M; Cattaneo O; Wolff N; Buon C; Sternberg D; Euchparmakian M; Boex M; Behin A; Mamchaouhi K; Maisonobe T; Nougues MC; Isapof A; Fontaine B; Messéant J; Eymard B; Strochlic L; Bauché S
    Sci Rep; 2023 Aug; 13(1):14054. PubMed ID: 37640745
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
    Tsao CY
    Pediatr Neurol; 2016 Jan; 54():85-7. PubMed ID: 26552645
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.
    Abicht A; Stucka R; Karcagi V; Herczegfalvi A; Horváth R; Mortier W; Schara U; Ramaekers V; Jost W; Brunner J; Janssen G; Seidel U; Schlotter B; Müller-Felber W; Pongratz D; Rüdel R; Lochmüller H
    Neurology; 1999 Oct; 53(7):1564-9. PubMed ID: 10534268
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.