155 related articles for article (PubMed ID: 32424628)
1. Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.
Hartman TG; Yosovich K; Michaeli HG; Blumkin L; Ben-Sira L; Lev D; Lerman-Sagie T; Zerem A
Neurogenetics; 2020 Oct; 21(4):243-249. PubMed ID: 32424628
[TBL] [Abstract][Full Text] [Related]
2. Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.
Toldo I; Nosadini M; Boscardin C; Talenti G; Manara R; Lamantea E; Legati A; Ghezzi D; Perilongo G; Sartori S
Metab Brain Dis; 2018 Jun; 33(3):805-812. PubMed ID: 29359243
[TBL] [Abstract][Full Text] [Related]
3. Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
Alfadhel M; Nashabat M; Alrifai MT; Alshaalan H; Al Mutairi F; Al-Shahrani SA; Plecko B; Almass R; Alsagob M; Almutairi FB; Al-Rumayyan A; Al-Twaijri W; Al-Owain M; Taylor RW; Kaya N
Eur J Paediatr Neurol; 2018 Jan; 22(1):46-55. PubMed ID: 29122497
[TBL] [Abstract][Full Text] [Related]
4. A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4.
Eidi M; Garshasbi M
BMC Neurol; 2019 Jul; 19(1):153. PubMed ID: 31279336
[TBL] [Abstract][Full Text] [Related]
5. ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Torraco A; Stehling O; Stümpfig C; Rösser R; De Rasmo D; Fiermonte G; Verrigni D; Rizza T; Vozza A; Di Nottia M; Diodato D; Martinelli D; Piemonte F; Dionisi-Vici C; Bertini E; Lill R; Carrozzo R
Hum Mol Genet; 2018 Aug; 27(15):2739-2754. PubMed ID: 29767723
[TBL] [Abstract][Full Text] [Related]
6. ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
Al-Hassnan ZN; Al-Dosary M; Alfadhel M; Faqeih EA; Alsagob M; Kenana R; Almass R; Al-Harazi OS; Al-Hindi H; Malibari OI; Almutari FB; Tulbah S; Alhadeq F; Al-Sheddi T; Alamro R; AlAsmari A; Almuntashri M; Alshaalan H; Al-Mohanna FA; Colak D; Kaya N
J Med Genet; 2015 Mar; 52(3):186-94. PubMed ID: 25539947
[TBL] [Abstract][Full Text] [Related]
7. Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.
Debray FG; Stümpfig C; Vanlander AV; Dideberg V; Josse C; Caberg JH; Boemer F; Bours V; Stevens R; Seneca S; Smet J; Lill R; van Coster R
J Inherit Metab Dis; 2015 Nov; 38(6):1147-53. PubMed ID: 25971455
[TBL] [Abstract][Full Text] [Related]
8. Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.
Alaimo JT; Besse A; Alston CL; Pang K; Appadurai V; Samanta M; Smpokou P; McFarland R; Taylor RW; Bonnen PE
Hum Mutat; 2018 Apr; 39(4):537-549. PubMed ID: 29297947
[TBL] [Abstract][Full Text] [Related]
9. Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome.
Zhan F; Liu X; Ni R; Liu T; Cao Y; Wu J; Tian W; Luan X; Cao L
Metab Brain Dis; 2022 Feb; 37(2):311-317. PubMed ID: 34709542
[TBL] [Abstract][Full Text] [Related]
10.
de Souza PVS; Bortholin T; Burlin S; Naylor FGM; Pinto WBVR; Oliveira ASB
J Pediatr Genet; 2018 Mar; 7(1):40-42. PubMed ID: 29441221
[TBL] [Abstract][Full Text] [Related]
11. Mitochondrial leukoencephalopathies: A border zone between acquired and inherited white matter disorders in children?
Bindu PS; Sonam K; Chiplunkar S; Govindaraj P; Nagappa M; Vekhande CC; Aravinda HR; Ponmalar JJ; Mahadevan A; Gayathri N; Bharath MS; Sinha S; Taly AB
Mult Scler Relat Disord; 2018 Feb; 20():84-92. PubMed ID: 29353736
[TBL] [Abstract][Full Text] [Related]
12. Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.
Khalifa M; Naffaa L
Eur J Med Genet; 2015 Aug; 58(8):381-6. PubMed ID: 26096995
[TBL] [Abstract][Full Text] [Related]
13. A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation.
Uzunhan TA; Çakar NE; Seyhan S; Aydin K
Brain Dev; 2020 Nov; 42(10):756-761. PubMed ID: 32747156
[TBL] [Abstract][Full Text] [Related]
14. A Case of Multiple Mitochondrial Dysfunctions Syndrome 4 with Novel
Chin H; Cho J; Kim WJ; Kim SY; Lim BC; Kim KJ; Chae JH
Child Neurol Open; 2023; 10():2329048X231210421. PubMed ID: 37915614
[No Abstract] [Full Text] [Related]
15. A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.
Kashani A; Thiffault I; Dilenge ME; Saint-Martin C; Guerrero K; Tran LT; Shoubridge E; van der Knaap MS; Braverman N; Bernard G
Neurogenetics; 2014 Aug; 15(3):161-4. PubMed ID: 24952175
[TBL] [Abstract][Full Text] [Related]
16. Genotypic Spectrum and Natural History of Cavitating Leukoencephalopathies in Childhood.
Zhang J; Liu M; Zhang Z; Zhou L; Kong W; Jiang Y; Wang J; Xiao J; Wu Y
Pediatr Neurol; 2019 May; 94():38-47. PubMed ID: 30770271
[TBL] [Abstract][Full Text] [Related]
17. Acute intermittent porphyria-related leukoencephalopathy.
Kevelam SH; Neeleman RA; Waisfisz Q; Friesema EC; Langendonk JG; van der Knaap MS
Neurology; 2016 Sep; 87(12):1258-65. PubMed ID: 27558376
[TBL] [Abstract][Full Text] [Related]
18. Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.
Liu M; Zhang J; Zhang Z; Zhou L; Jiang Y; Wang J; Xiao J; Wu Y
Clin Genet; 2018 Feb; 93(2):235-241. PubMed ID: 28671726
[TBL] [Abstract][Full Text] [Related]
19. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
van Berge L; Hamilton EM; Linnankivi T; Uziel G; Steenweg ME; Isohanni P; Wolf NI; Krägeloh-Mann I; Brautaset NJ; Andrews PI; de Jong BA; al Ghamdi M; van Wieringen WN; Tannous BA; Hulleman E; Würdinger T; van Berkel CG; Polder E; Abbink TE; Struys EA; Scheper GC; van der Knaap MS;
Brain; 2014 Apr; 137(Pt 4):1019-29. PubMed ID: 24566671
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
