142 related articles for article (PubMed ID: 29577824)
1. Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.
Sharma S; Singh P; Fernandez-Vizarra E; Zeviani M; Van der Knaap MS; Saran RK
J Child Neurol; 2018 May; 33(6):428-431. PubMed ID: 29577824
[TBL] [Abstract][Full Text] [Related]
2. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Melchionda L; Haack TB; Hardy S; Abbink TE; Fernandez-Vizarra E; Lamantea E; Marchet S; Morandi L; Moggio M; Carrozzo R; Torraco A; Diodato D; Strom TM; Meitinger T; Tekturk P; Yapici Z; Al-Murshedi F; Stevens R; Rodenburg RJ; Lamperti C; Ardissone A; Moroni I; Uziel G; Prokisch H; Taylor RW; Bertini E; van der Knaap MS; Ghezzi D; Zeviani M
Am J Hum Genet; 2014 Sep; 95(3):315-25. PubMed ID: 25175347
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Multifocal cavitating leukodystrophy-A distinct image in mitochondrial LYRM7 mutations.
Cherian A; Divya KP; Jose J; Thomas B
Mult Scler Relat Disord; 2021 Jan; 47():102615. PubMed ID: 33189022
[TBL] [Abstract][Full Text] [Related]
5. Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome
Chapleau A; Boucher RM; Pastinen T; Thiffault I; Gould PV; Bernard G
Front Cell Neurosci; 2023; 17():1216487. PubMed ID: 37601282
[TBL] [Abstract][Full Text] [Related]
6. Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.
Taskin BD; Karalok ZS; Gurkas E; Aydin K; Aydogmus U; Ceylaner S; Karaer K; Yilmaz C; Pearl PL
J Child Neurol; 2016 Jun; 31(7):938-41. PubMed ID: 26893310
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes.
Alfattal R; Alfarhan M; Algaith AM; Albash B; Elshafie RM; Alshammari A; Alahmad A; Dashti F; Alsafi R; Alsharhan H
Am J Med Genet A; 2023 May; 191(5):1401-1411. PubMed ID: 36757047
[TBL] [Abstract][Full Text] [Related]
9. A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan.
Hoshi M; Koshimizu E; Miyatake S; Matsumoto N; Imamura A
Brain Dev; 2019 Jan; 41(1):101-105. PubMed ID: 30077506
[TBL] [Abstract][Full Text] [Related]
10. LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Dallabona C; Abbink TE; Carrozzo R; Torraco A; Legati A; van Berkel CG; Niceta M; Langella T; Verrigni D; Rizza T; Diodato D; Piemonte F; Lamantea E; Fang M; Zhang J; Martinelli D; Bevivino E; Dionisi-Vici C; Vanderver A; Philip SG; Kurian MA; Verma IC; Bijarnia-Mahay S; Jacinto S; Furtado F; Accorsi P; Ardissone A; Moroni I; Ferrero I; Tartaglia M; Goffrini P; Ghezzi D; van der Knaap MS; Bertini E
Brain; 2016 Mar; 139(Pt 3):782-94. PubMed ID: 26912632
[TBL] [Abstract][Full Text] [Related]
11. A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report.
Sun G; Yao F; Tian Z; Ma T; Yang Z
BMC Med Genet; 2018 Oct; 19(1):177. PubMed ID: 30285654
[TBL] [Abstract][Full Text] [Related]
12. SURF-1 gene mutation associated with leukoencephalopathy in a 2-year-old.
Timothy J; Geller T
J Child Neurol; 2009 Oct; 24(10):1296-301. PubMed ID: 19805825
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Deficiency of alkaline ceramidase 3 with infancy-onset progressive leukoencephalopathy: a second case report.
Kilic H; Dogan M; Sahin S; Saltik S; Yalcinkaya C
Acta Neurol Belg; 2021 Dec; 121(6):1867-1870. PubMed ID: 32816236
[No Abstract] [Full Text] [Related]
15. BRAT1-Associated Leukodystrophy Exacerbated by Classic Hodgkin Lymphoma-Directed Therapy.
Hooshmand SJ; Chohan KL; Raghunathan A; Renaud DL; Ruff MW
Neurologist; 2024 May; 29(3):170-172. PubMed ID: 38019165
[TBL] [Abstract][Full Text] [Related]
16. Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings.
Şahin S; Cansu A; Kalay E; Dinçer T; Kul S; Çakır İM; Kamaşak T; Budak GY
J Neurol Sci; 2016 Jun; 365():54-8. PubMed ID: 27206875
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Teaching NeuroImages: MRI findings in an infant with cavitating leukoencephalopathy.
Hong A; Assaad P; Karkare S
Neurology; 2019 Feb; 92(8):e884-e885. PubMed ID: 30777920
[No Abstract] [Full Text] [Related]
19. AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.
Taglia I; Di Donato I; Bianchi S; Cerase A; Monti L; Marconi R; Orrico A; Rufa A; Federico A; Dotti MT
Acta Neurol Scand; 2018 Oct; 138(4):278-283. PubMed ID: 29749055
[TBL] [Abstract][Full Text] [Related]
20. Gait Apraxia with Exaggerated Upper Limb Movements as Presentation of AARS2 Related Leukoencephalopathy.
Chakraborty AP; Mukherjee A; Bhattacharyya A; Bhattacharyya D; Ray BK; Biswas A
Tremor Other Hyperkinet Mov (N Y); 2022; 12():24. PubMed ID: 35975211
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]