159 related articles for article (PubMed ID: 31730230)
1. 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]
2. Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.
Radhakrishnan P; Shukla A; Girisha KM; Nayak SS
Am J Med Genet A; 2020 Apr; 182(4):804-807. PubMed ID: 31880392
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.
Tiwari AK; Srinivasan VM; Phadke SR; Saxena D
Clin Genet; 2024 Feb; 105(2):226-227. PubMed ID: 37849383
[TBL] [Abstract][Full Text] [Related]
7. Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.
Winters L; Van Hoof E; De Catte L; Van Den Bogaert K; de Ravel T; De Waele L; Corveleyn A; Breckpot J
Eur J Paediatr Neurol; 2017 Sep; 21(5):745-753. PubMed ID: 28495245
[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. 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]
10. SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
Hakonen AH; Polvi A; Saloranta C; Paetau A; Heikkilä P; Almusa H; Ellonen P; Jakkula E; Saarela J; Aittomäki K
Am J Med Genet A; 2019 Jul; 179(7):1362-1365. PubMed ID: 31059209
[TBL] [Abstract][Full Text] [Related]
11. CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
Freed AS; Schwarz AC; Brei BK; Clowes Candadai SV; Thies J; Mah JK; Chabra S; Wang L; Innes AM; Bennett JT
Am J Med Genet A; 2021 Mar; 185(3):827-835. PubMed ID: 33296147
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. [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]
14. 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]
15. 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]
16. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Michalk A; Stricker S; Becker J; Rupps R; Pantzar T; Miertus J; Botta G; Naretto VG; Janetzki C; Yaqoob N; Ott CE; Seelow D; Wieczorek D; Fiebig B; Wirth B; Hoopmann M; Walther M; Körber F; Blankenburg M; Mundlos S; Heller R; Hoffmann K
Am J Hum Genet; 2008 Feb; 82(2):464-76. PubMed ID: 18252226
[TBL] [Abstract][Full Text] [Related]
17. Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.
Watson CM; Crinnion LA; Murphy H; Newbould M; Harrison SM; Lascelles C; Antanaviciute A; Carr IM; Sheridan E; Bonthron DT; Smith A
J Med Genet; 2016 Apr; 53(4):264-9. PubMed ID: 26733463
[TBL] [Abstract][Full Text] [Related]
18. The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome.
Banerjee M; Arutyunov D; Brandwein D; Janetzki-Flatt C; Kolski H; Hume S; Leonard NJ; Watt J; Lacson A; Baradi M; Leslie EM; Cordat E; Caluseriu O
Hum Mutat; 2019 Oct; 40(10):1676-1683. PubMed ID: 31299140
[TBL] [Abstract][Full Text] [Related]
19. Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
Bonnin E; Cabochette P; Filosa A; Jühlen R; Komatsuzaki S; Hezwani M; Dickmanns A; Martinelli V; Vermeersch M; Supply L; Martins N; Pirenne L; Ravenscroft G; Lombard M; Port S; Spillner C; Janssens S; Roets E; Van Dorpe J; Lammens M; Kehlenbach RH; Ficner R; Laing NG; Hoffmann K; Vanhollebeke B; Fahrenkrog B
PLoS Genet; 2018 Dec; 14(12):e1007845. PubMed ID: 30543681
[TBL] [Abstract][Full Text] [Related]
20. Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
Vogt J; Morgan NV; Marton T; Maxwell S; Harrison BJ; Beeson D; Maher ER
J Med Genet; 2009 May; 46(5):338-40. PubMed ID: 19261599
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]