149 related articles for article (PubMed ID: 37601282)
1. 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]
2. COX deficiency and leukoencephalopathy due to a novel homozygous
Hedberg-Oldfors C; Darin N; Thomsen C; Lindberg C; Oldfors A
Neurol Genet; 2020 Aug; 6(4):e464. PubMed ID: 32637636
[TBL] [Abstract][Full Text] [Related]
3. Knockdown of
Brischigliaro M; Corrà S; Tregnago C; Fernandez-Vizarra E; Zeviani M; Costa R; De Pittà C
Front Physiol; 2019; 10():1143. PubMed ID: 31555154
[TBL] [Abstract][Full Text] [Related]
4. Prominent muscle involvement in a familial form of mitochondrial disease due to a
Rimoldi M; Magri F; Antognozzi S; Ripolone M; Salani S; Piga D; Bertolasi L; Zanotti S; Ciscato P; Fortunato F; Moggio M; Corti S; Comi GP; Ronchi D
Front Genet; 2023; 14():1278572. PubMed ID: 38098475
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. The neuropathologic findings in a case of progressive cavitating leukoencephalopathy due to NDUFV1 pathogenic variants.
Becker N; Sharma A; Gosse M; Kubat B; Conway KS
Acta Neuropathol Commun; 2022 Sep; 10(1):142. PubMed ID: 36163075
[TBL] [Abstract][Full Text] [Related]
8. APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.
Signes A; Cerutti R; Dickson AS; Benincá C; Hinchy EC; Ghezzi D; Carrozzo R; Bertini E; Murphy MP; Nathan JA; Viscomi C; Fernandez-Vizarra E; Zeviani M
EMBO Mol Med; 2019 Jan; 11(1):. PubMed ID: 30552096
[TBL] [Abstract][Full Text] [Related]
9.
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]
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. 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]
12. Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.
Mierzewska H; van der Knaap MS; Scheper GC; Jurkiewicz E; Schmidt-Sidor B; Szymańska K
Folia Neuropathol; 2006; 44(2):144-8. PubMed ID: 16823698
[TBL] [Abstract][Full Text] [Related]
13. Progressive cavitating leukoencephalopathy associated with a homozygous
Shinagawa A; Hugdal S; Babu J; Rangaswamy R
Radiol Case Rep; 2020 Jul; 15(7):908-913. PubMed ID: 32382377
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer's disease.
Terada S; Ishizu H; Yokota O; Ishihara T; Nakashima H; Kugo A; Tanaka Y; Nakashima T; Nakashima Y; Kuroda S
Acta Neuropathol; 2004 Dec; 108(6):538-45. PubMed ID: 15365727
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Extensive leukoencephalopathy associated with idiopathic capillary leak syndrome: report of a case with neuropathology.
Ohira J; Yoshimura H; Takanashi M; Yamashita D; Hara S; Ueno Y; Hattori N; Kawamoto M; Kohara N
Neurol Sci; 2021 May; 42(5):2095-2098. PubMed ID: 33411202
[TBL] [Abstract][Full Text] [Related]
18. Phenotypic variation in leukoencephalopathy with vanishing white matter.
van der Knaap MS; Kamphorst W; Barth PG; Kraaijeveld CL; Gut E; Valk J
Neurology; 1998 Aug; 51(2):540-7. PubMed ID: 9710032
[TBL] [Abstract][Full Text] [Related]
19. Cavitating and tigroid-like leukoencephalopathy in a case of
Alagia M; Cappuccio G; Torella A; D'Amico A; Mazio F; Romano A; Fecarotta S; Casari G; Nigro V; ; Brunetti-Pierri N
JIMD Rep; 2020 Mar; 52(1):11-16. PubMed ID: 32154054
[TBL] [Abstract][Full Text] [Related]
20. A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.
Jennions E; Olsson-Engman M; Visuttijai K; Wiksell Å; Fluriach Dominguez N; Kollberg G; Oldfors A; Hedberg-Oldfors C
Am J Med Genet A; 2024 Jun; ():e63783. PubMed ID: 38842388
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
