213 related articles for article (PubMed ID: 33397003)
1. [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]
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. 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]
5. Congenital Myasthenic Syndrome Associated With SLC25A1 Gene Variant: The First Reported Case in Saudi Arabia.
Alzahrani AYB; Alghamdi LSA; Alghamdi HAM; Hassan AF; Alsehemi MA
Cureus; 2023 Mar; 15(3):e35808. PubMed ID: 37033560
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Nota B; Struys EA; Pop A; Jansen EE; Fernandez Ojeda MR; Kanhai WA; Kranendijk M; van Dooren SJ; Bevova MR; Sistermans EA; Nieuwint AW; Barth M; Ben-Omran T; Hoffmann GF; de Lonlay P; McDonald MT; Meberg A; Muntau AC; Nuoffer JM; Parini R; Read MH; Renneberg A; Santer R; Strahleck T; van Schaftingen E; van der Knaap MS; Jakobs C; Salomons GS
Am J Hum Genet; 2013 Apr; 92(4):627-31. PubMed ID: 23561848
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Congenital myasthenic syndrome in China: genetic and myopathological characterization.
Zhao Y; Li Y; Bian Y; Yao S; Liu P; Yu M; Zhang W; Wang Z; Yuan Y
Ann Clin Transl Neurol; 2021 Apr; 8(4):898-907. PubMed ID: 33756069
[TBL] [Abstract][Full Text] [Related]
11. [Mitochondrial pyruvate carrier deficiency: 3 cases report and literature review].
Jiang HF; Fang F; Liu ZM; Xu CL; Zhao PQ; Fu XL
Zhonghua Er Ke Za Zhi; 2023 Nov; 61(11):995-1000. PubMed ID: 37899339
[No Abstract] [Full Text] [Related]
12. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
Chaouch A; Porcelli V; Cox D; Edvardson S; Scarcia P; De Grassi A; Pierri CL; Cossins J; Laval SH; Griffin H; Müller JS; Evangelista T; Töpf A; Abicht A; Huebner A; von der Hagen M; Bushby K; Straub V; Horvath R; Elpeleg O; Palace J; Senderek J; Beeson D; Palmieri L; Lochmüller H
J Neuromuscul Dis; 2014; 1(1):75-90. PubMed ID: 26870663
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.
Yıldırım M; Yarenci GB; Genç MB; Uçar Çİ; Bayav S; Tekin MN; Bektaş Ö; Teber S
Neuropediatrics; 2024 Jun; 55(3):200-204. PubMed ID: 38531369
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
Vlckova M; Prchalova D; Zimmermann P; Haberlova J; Bendova S; Moslerova V; Stranecky V; Sedlacek Z; Hancarova M
Mol Genet Genomic Med; 2023 Jun; 11(6):e2154. PubMed ID: 36840359
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases].
Liu ZM; Fang F; Ding CH; Zhang WH; Deng J; Chen CH; Wang X; Liu J; Li Z; Jia XL; Zeng JS; Qian SY
Zhonghua Er Ke Za Zhi; 2018 Mar; 56(3):216-220. PubMed ID: 29518833
[No Abstract] [Full Text] [Related]
19. Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.
Eguchi M; Ozaki E; Yamauchi T; Ohta M; Higaki T; Masuda K; Imoto I; Ishii E; Eguchi-Ishimae M
Am J Med Genet A; 2018 Feb; 176(2):351-358. PubMed ID: 29265763
[TBL] [Abstract][Full Text] [Related]
20. Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype.
Polavarapu K; Vengalil S; Preethish-Kumar V; Arunachal G; Nashi S; Mohan D; Chawla T; Bardhan M; Nandeesh B; Gupta P; Gowda VK; Lochmüller H; Nalini A
Eur J Paediatr Neurol; 2021 Mar; 31():54-60. PubMed ID: 33631708
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
