103 related articles for article (PubMed ID: 31808147)
1. Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.
Al-Futaisi A; Ahmad F; Al-Kasbi G; Al-Thihli K; Koul R; Al-Maawali A
Clin Genet; 2020 Apr; 97(4):666-667. PubMed ID: 31808147
[No Abstract] [Full Text] [Related]
2. A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.
Li W; Zhang M; Zhang L; Shi Y; Zhao L; Wu B; Li X; Zhou S
BMC Neurol; 2020 Jul; 20(1):278. PubMed ID: 32660532
[TBL] [Abstract][Full Text] [Related]
3. Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.
Balaraju S; Töpf A; McMacken G; Kumar VP; Pechmann A; Roper H; Vengalil S; Polavarapu K; Nashi S; Mahajan NP; Barbosa IA; Deshpande C; Taylor RW; Cossins J; Beeson D; Laurie S; Kirschner J; Horvath R; McFarland R; Nalini A; Lochmüller H
Eur J Hum Genet; 2020 Mar; 28(3):373-377. PubMed ID: 31527857
[TBL] [Abstract][Full Text] [Related]
4. [Congenital myasthenic syndrome related to SLC25A1 gene variant: two cases report and literature review].
Li WH; Wu BB; Zhou SZ
Zhonghua Er Ke Za Zhi; 2021 Jan; 59(1):42-46. PubMed ID: 33397003
[No Abstract] [Full Text] [Related]
5. Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease.
O'Connor K; Spendiff S; Lochmüller H; Horvath R
Int J Mol Sci; 2023 May; 24(10):. PubMed ID: 37239850
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Donkervoort S; Mohassel P; Laugwitz L; Zaki MS; Kamsteeg EJ; Maroofian R; Chao KR; Verschuuren-Bemelmans CC; Horber V; Fock AJM; McCarty RM; Jain MS; Biancavilla V; McMacken G; Nalls M; Voermans NC; Elbendary HM; Snyder M; Cai C; Lehky TJ; Stanley V; Iannaccone ST; Foley AR; Lochmüller H; Gleeson J; Houlden H; Haack TB; Horvath R; Bönnemann CG
Am J Med Genet A; 2020 Oct; 182(10):2272-2283. PubMed ID: 32776697
[TBL] [Abstract][Full Text] [Related]
8. A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
Cohen I; Staretz-Chacham O; Wormser O; Perez Y; Saada A; Kadir R; Birk OS
Am J Med Genet A; 2018 Feb; 176(2):330-336. PubMed ID: 29226520
[TBL] [Abstract][Full Text] [Related]
9. Tubular aggregates in congenital myasthenic syndrome.
Feresiadou A; Casar-Borota O; Dragomir A; Oldfors CH; Stålberg E; Oldfors A
Neuromuscul Disord; 2018 Feb; 28(2):174-175. PubMed ID: 29311015
[No Abstract] [Full Text] [Related]
10. Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.
Schmidt C; Abicht A; Krampfl K; Voss W; Stucka R; Mildner G; Petrova S; Schara U; Mortier W; Bufler J; Huebner A; Lochmüller H
Neuromuscul Disord; 2003 Mar; 13(3):245-51. PubMed ID: 12609506
[TBL] [Abstract][Full Text] [Related]
11. Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.
Müller JS; Petrova S; Kiefer R; Stucka R; König C; Baumeister SK; Huebner A; Lochmüller H; Abicht A
Neuropediatrics; 2004 Jun; 35(3):183-9. PubMed ID: 15248101
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.
Müller JS; Abicht A; Burke G; Cossins J; Richard P; Baumeister SK; Stucka R; Eymard B; Hantaï D; Beeson D; Lochmüller H
J Med Genet; 2004 Aug; 41(8):e104. PubMed ID: 15286164
[No Abstract] [Full Text] [Related]
15. Recurrent COLQ mutation in congenital myasthenic syndrome.
Guven A; Demirci M; Anlar B
Pediatr Neurol; 2012 Apr; 46(4):253-6. PubMed ID: 22490774
[TBL] [Abstract][Full Text] [Related]
16. A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family.
Tan JZ; Man Y; Xiao F
Chin Med J (Engl); 2016 Nov; 129(21):2596-2602. PubMed ID: 27779167
[TBL] [Abstract][Full Text] [Related]
17. Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome.
Outteryck O; Richard P; Lacour A; Fournier E; Zéphir H; Gaudon K; Eymard B; Hantaï D; Vermersch P; Stojkovic T
J Neurol Neurosurg Psychiatry; 2009 Apr; 80(4):450-1. PubMed ID: 19289485
[No Abstract] [Full Text] [Related]
18. Congenital myasthenic syndrome due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene.
Kraner S; Burgunder JM; Rösler KM; Steinlein OK; Sieb JP
Eur J Neurol; 2002 Nov; 9(6):694-5. PubMed ID: 12453093
[No Abstract] [Full Text] [Related]
19. 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]
20. Isolated PREPL deficiency associated with congenital myasthenic syndrome-22.
Laugwitz L; Redler S; Buchert R; Sturm M; Zeile I; Schara U; Wieczorek D; Haack T; Distelmaier F
Klin Padiatr; 2018 Sep; 230(5):281-283. PubMed ID: 29913539
[No Abstract] [Full Text] [Related]
[Next] [New Search]
