237 related articles for article (PubMed ID: 26870663)
1. 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]
2. 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]
3. 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]
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. 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]
6. 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]
7. Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
O'Connor E; Töpf A; Müller JS; Cox D; Evangelista T; Colomer J; Abicht A; Senderek J; Hasselmann O; Yaramis A; Laval SH; Lochmüller H
Brain; 2016 Aug; 139(Pt 8):2143-53. PubMed ID: 27259756
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Mitochondrial citrate carrier SLC25A1 is a dosage-dependent regulator of metabolic reprogramming and morphogenesis in the developing heart.
Ohanele C; Peoples JN; Karlstaedt A; Geiger JT; Gayle AD; Ghazal N; Sohani F; Brown ME; Davis ME; Porter GA; Faundez V; Kwong JQ
bioRxiv; 2024 May; ():. PubMed ID: 37292906
[TBL] [Abstract][Full Text] [Related]
10. Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S; O'Regan S; Azuma Y; Laffargue F; McMacken G; Sternberg D; Brochier G; Buon C; Bouzidi N; Topf A; Lacène E; Remerand G; Beaufrere AM; Pebrel-Richard C; Thevenon J; El Chehadeh-Djebbar S; Faivre L; Duffourd Y; Ricci F; Mongini T; Fiorillo C; Astrea G; Burloiu CM; Butoianu N; Sandu C; Servais L; Bonne G; Nelson I; Desguerre I; Nougues MC; Bœuf B; Romero N; Laporte J; Boland A; Lechner D; Deleuze JF; Fontaine B; Strochlic L; Lochmuller H; Eymard B; Mayer M; Nicole S
Am J Hum Genet; 2016 Sep; 99(3):753-761. PubMed ID: 27569547
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Smith A; McBride S; Marcadier JL; Michaud J; Al-Dirbashi OY; Schwartzentruber J; Beaulieu CL; Katz SL; ; Majewski J; Bulman DE; Geraghty MT; Harper ME; Chakraborty P; Lines MA
JIMD Rep; 2016; 30():73-79. PubMed ID: 27306203
[TBL] [Abstract][Full Text] [Related]
13. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
Belaya K; Finlayson S; Slater CR; Cossins J; Liu WW; Maxwell S; McGowan SJ; Maslau S; Twigg SR; Walls TJ; Pascual Pascual SI; Palace J; Beeson D
Am J Hum Genet; 2012 Jul; 91(1):193-201. PubMed ID: 22742743
[TBL] [Abstract][Full Text] [Related]
14. Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.
Lu S; Lyu Z; Wang Z; Kou Y; Liu C; Li S; Hu M; Zhu H; Wang W; Zhang C; Kuan YS; Liu YW; Chen J; Tian J
Theranostics; 2021; 11(6):2788-2805. PubMed ID: 33456573
[TBL] [Abstract][Full Text] [Related]
15. Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.
Prasun P; Young S; Salomons G; Werneke A; Jiang YH; Struys E; Paige M; Avantaggiati ML; McDonald M
JIMD Rep; 2015; 19():111-5. PubMed ID: 25614306
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. Collagen XIII Is Required for Neuromuscular Synapse Regeneration and Functional Recovery after Peripheral Nerve Injury.
Zainul Z; Heikkinen A; Koivisto H; Rautalahti I; Kallio M; Lin S; Härönen H; Norman O; Rüegg MA; Tanila H; Pihlajaniemi T
J Neurosci; 2018 Apr; 38(17):4243-4258. PubMed ID: 29626165
[TBL] [Abstract][Full Text] [Related]
18. Congenital myasthenic syndromes and the neuromuscular junction.
Rodríguez Cruz PM; Palace J; Beeson D
Curr Opin Neurol; 2014 Oct; 27(5):566-75. PubMed ID: 25159927
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J; Liu WW; Belaya K; Maxwell S; Oldridge M; Lester T; Robb S; Beeson D
Hum Mol Genet; 2012 Sep; 21(17):3765-75. PubMed ID: 22661499
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
