116 related articles for article (PubMed ID: 29375865)
1. Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.
Abhyankar A; Lamendola-Essel M; Brennan K; Giordano JL; Esteves C; Felice V; Wapner R; Jobanputra V
Clin Case Rep; 2018 Jan; 6(1):200-205. PubMed ID: 29375865
[TBL] [Abstract][Full Text] [Related]
2. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.
Ben-Salem S; Gleeson JG; Al-Shamsi AM; Islam B; Hertecant J; Ali BR; Al-Gazali L
Metab Brain Dis; 2015 Jun; 30(3):687-94. PubMed ID: 25227173
[TBL] [Abstract][Full Text] [Related]
3. A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.
Jahanpanah M; Mokhtari D; Mokaber H; Arish S; Ahmadabadi F; Davarnia B
Mol Genet Genomic Med; 2024 Apr; 12(4):e2424. PubMed ID: 38546112
[TBL] [Abstract][Full Text] [Related]
4. A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency.
Wang C; He G; Ge Y; Li R; Li Z; Lin Y
Mol Genet Genomic Med; 2020 Jun; 8(6):e1235. PubMed ID: 32255274
[TBL] [Abstract][Full Text] [Related]
5. Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.
Staklinski SJ; Snanoudj S; Guerrot AM; Vanhulle C; Lecoquierre F; Bekri S; Kilberg MS
Int J Mol Sci; 2022 Dec; 24(1):. PubMed ID: 36613999
[TBL] [Abstract][Full Text] [Related]
6. The first report of Japanese patients with asparagine synthetase deficiency.
Yamamoto T; Endo W; Ohnishi H; Kubota K; Kawamoto N; Inui T; Imamura A; Takanashi JI; Shiina M; Saitsu H; Ogata K; Matsumoto N; Haginoya K; Fukao T
Brain Dev; 2017 Mar; 39(3):236-242. PubMed ID: 27743885
[TBL] [Abstract][Full Text] [Related]
7. An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency.
Liu L; Wang J; Li H; Dong Y; Li Y; Xia L; Yang B; Wang H; Xu Y; Cheng G; Du K; Zhang X; Zhu C; Cui S; Ren C
Clin Chim Acta; 2022 Jun; 531():331-336. PubMed ID: 35469797
[TBL] [Abstract][Full Text] [Related]
8. Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency.
Staklinski SJ; Chang MC; Yu F; Collins Ruff K; Franz DN; Qian Z; Bloom LB; Merritt ME; McKenna R; Kilberg MS
J Biol Chem; 2022 Sep; 298(9):102385. PubMed ID: 35985424
[TBL] [Abstract][Full Text] [Related]
9. Asparagine Synthetase deficiency-report of a novel mutation and review of literature.
Gupta N; Tewari VV; Kumar M; Langeh N; Gupta A; Mishra P; Kaur P; Ramprasad V; Murugan S; Kumar R; Jana M; Kabra M
Metab Brain Dis; 2017 Dec; 32(6):1889-1900. PubMed ID: 28776279
[TBL] [Abstract][Full Text] [Related]
10. Case report: A compound heterozygous mutations in
Zhu L; Sun Y; Xu Y; Jin P; Ding H; Dong M
Front Pediatr; 2023; 11():1273789. PubMed ID: 37900678
[TBL] [Abstract][Full Text] [Related]
11. Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report.
Costa P; Zanus C; Faletra F; Ventura G; di Marzio GM; Cervesi C; Carrozzi M
Epileptic Disord; 2019 Oct; 21(5):466-470. PubMed ID: 31617495
[TBL] [Abstract][Full Text] [Related]
12. Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.
Seidahmed MZ; Salih MA; Abdulbasit OB; Samadi A; Al Hussien K; Miqdad AM; Biary MS; Alazami AM; Alorainy IA; Kabiraj MM; Shaheen R; Alkuraya FS
BMC Neurol; 2016 Jul; 16():105. PubMed ID: 27422383
[TBL] [Abstract][Full Text] [Related]
13. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
Ruzzo EK; Capo-Chichi JM; Ben-Zeev B; Chitayat D; Mao H; Pappas AL; Hitomi Y; Lu YF; Yao X; Hamdan FF; Pelak K; Reznik-Wolf H; Bar-Joseph I; Oz-Levi D; Lev D; Lerman-Sagie T; Leshinsky-Silver E; Anikster Y; Ben-Asher E; Olender T; Colleaux L; Décarie JC; Blaser S; Banwell B; Joshi RB; He XP; Patry L; Silver RJ; Dobrzeniecka S; Islam MS; Hasnat A; Samuels ME; Aryal DK; Rodriguiz RM; Jiang YH; Wetsel WC; McNamara JO; Rouleau GA; Silver DL; Lancet D; Pras E; Mitchell GA; Michaud JL; Goldstein DB
Neuron; 2013 Oct; 80(2):429-41. PubMed ID: 24139043
[TBL] [Abstract][Full Text] [Related]
14. Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.
Sun J; McGillivray AJ; Pinner J; Yan Z; Liu F; Bratkovic D; Thompson E; Wei X; Jiang H; Asan ; Chopra M
JIMD Rep; 2017; 34():1-9. PubMed ID: 27469131
[TBL] [Abstract][Full Text] [Related]
15. Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant.
Altıntaş M; Yıldırım M; Uçar Çİ; Köse E; Bektaş Ö; Teber S
Clin Neurol Neurosurg; 2023 Jul; 230():107772. PubMed ID: 37167844
[TBL] [Abstract][Full Text] [Related]
16. Clinical outcomes of two patients with a novel pathogenic variant in
Sprute R; Ardicli D; Oguz KK; Malenica-Mandel A; Daimagüler HS; Koy A; Coskun T; Wang H; Topcu M; Cirak S
Hum Genome Var; 2019; 6():24. PubMed ID: 31123592
[TBL] [Abstract][Full Text] [Related]
17. Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells.
Chang MC; Staklinski SJ; Malut VR; Pierre GL; Kilberg MS; Merritt ME
Nutrients; 2023 Apr; 15(8):. PubMed ID: 37111157
[TBL] [Abstract][Full Text] [Related]
18. Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.
Palmer EE; Hayner J; Sachdev R; Cardamone M; Kandula T; Morris P; Dias KR; Tao J; Miller D; Zhu Y; Macintosh R; Dinger ME; Cowley MJ; Buckley MF; Roscioli T; Bye A; Kilberg MS; Kirk EP
Mol Genet Metab; 2015 Nov; 116(3):178-86. PubMed ID: 26318253
[TBL] [Abstract][Full Text] [Related]
19. Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases.
Radha Rama Devi A; Naushad SM
Gene; 2019 Jul; 704():97-102. PubMed ID: 30978478
[TBL] [Abstract][Full Text] [Related]
20. Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing.
Hollegaard MV; Grauholm J; Nielsen R; Grove J; Mandrup S; Hougaard DM
Mol Genet Metab; 2013; 110(1-2):65-72. PubMed ID: 23830478
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]