173 related articles for article (PubMed ID: 26607784)
1. A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs.
Mhlanga-Mutangadura T; Johnson GS; Schnabel RD; Taylor JF; Johnson GC; Katz ML; Shelton GD; Lever TE; Giuliano E; Granger N; Shomper J; O'Brien DP
Neurobiol Dis; 2016 Feb; 86():75-85. PubMed ID: 26607784
[TBL] [Abstract][Full Text] [Related]
2. A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration.
Mhlanga-Mutangadura T; Johnson GS; Ashwini A; Shelton GD; Wennogle SA; Johnson GC; Kuroki K; O'Brien DP
J Vet Intern Med; 2016 May; 30(3):813-8. PubMed ID: 26968732
[TBL] [Abstract][Full Text] [Related]
3. A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1).
Wiedmer M; Oevermann A; Borer-Germann SE; Gorgas D; Shelton GD; Drögemüller M; Jagannathan V; Henke D; Leeb T
G3 (Bethesda); 2015 Nov; 6(2):255-62. PubMed ID: 26596647
[TBL] [Abstract][Full Text] [Related]
4. Neuronal vacuolation and spinocerebellar degeneration associated with altered neurotransmission.
Giannakopoulou A
Folia Neuropathol; 2017; 55(2):132-145. PubMed ID: 28677370
[No Abstract] [Full Text] [Related]
5. Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.
Koparir A; Karatas OF; Yilmaz SS; Suer I; Ozer B; Yuceturk B; Ozen M
Am J Med Genet A; 2019 Apr; 179(4):579-587. PubMed ID: 30730599
[TBL] [Abstract][Full Text] [Related]
6. Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Bem D; Yoshimura S; Nunes-Bastos R; Bond FC; Kurian MA; Rahman F; Handley MT; Hadzhiev Y; Masood I; Straatman-Iwanowska AA; Cullinane AR; McNeill A; Pasha SS; Kirby GA; Foster K; Ahmed Z; Morton JE; Williams D; Graham JM; Dobyns WB; Burglen L; Ainsworth JR; Gissen P; Müller F; Maher ER; Barr FA; Aligianis IA
Am J Hum Genet; 2011 Apr; 88(4):499-507. PubMed ID: 21473985
[TBL] [Abstract][Full Text] [Related]
7. Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Handley MT; Morris-Rosendahl DJ; Brown S; Macdonald F; Hardy C; Bem D; Carpanini SM; Borck G; Martorell L; Izzi C; Faravelli F; Accorsi P; Pinelli L; Basel-Vanagaite L; Peretz G; Abdel-Salam GM; Zaki MS; Jansen A; Mowat D; Glass I; Stewart H; Mancini G; Lederer D; Roscioli T; Giuliano F; Plomp AS; Rolfs A; Graham JM; Seemanova E; Poo P; García-Cazorla A; Edery P; Jackson IJ; Maher ER; Aligianis IA
Hum Mutat; 2013 May; 34(5):686-96. PubMed ID: 23420520
[TBL] [Abstract][Full Text] [Related]
8. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
Borck G; Wunram H; Steiert A; Volk AE; Körber F; Roters S; Herkenrath P; Wollnik B; Morris-Rosendahl DJ; Kubisch C
Hum Genet; 2011 Jan; 129(1):45-50. PubMed ID: 20967465
[TBL] [Abstract][Full Text] [Related]
9. Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
Gumus E
Ophthalmic Genet; 2018 Jun; 39(3):391-395. PubMed ID: 29419336
[TBL] [Abstract][Full Text] [Related]
10. RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.
Tasdemir S; Sahin I; Morris-Rosendahl DJ; Marzioglu E; Cayir A; Yuce I; Tatar A
Genet Couns; 2015; 26(4):415-23. PubMed ID: 26852512
[TBL] [Abstract][Full Text] [Related]
11. Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.
Asahina M; Endoh Y; Matsubayashi T; Fukuda T; Ogata T
Brain Dev; 2016 Mar; 38(3):337-40. PubMed ID: 26421802
[TBL] [Abstract][Full Text] [Related]
12. The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.
Takáts S; Lévay L; Boda A; Tóth S; Simon-Vecsei Z; Rubics A; Varga Á; Lippai M; Lőrincz P; Glatz G; Juhász G
FEBS J; 2021 Jan; 288(1):190-211. PubMed ID: 32248620
[TBL] [Abstract][Full Text] [Related]
13. Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.
Aligianis IA; Morgan NV; Mione M; Johnson CA; Rosser E; Hennekam RC; Adams G; Trembath RC; Pilz DT; Stoodley N; Moore AT; Wilson S; Maher ER
Am J Hum Genet; 2006 Apr; 78(4):702-7. PubMed ID: 16532399
[TBL] [Abstract][Full Text] [Related]
14. Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
Picker-Minh S; Busche A; Hartmann B; Spors B; Klopocki E; Hübner C; Horn D; Kaindl AM
Orphanet J Rare Dis; 2014 Oct; 9():113. PubMed ID: 25332050
[TBL] [Abstract][Full Text] [Related]
15. Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.
Ullah W; Ilyas M; Tariq M; Imdad M; Ullah I; Efthymiou S; Faheem M; Abbas M; ; Aamir M; Nouman M; Houlden H
Int J Dev Neurosci; 2023 Jun; 83(4):368-373. PubMed ID: 37186309
[TBL] [Abstract][Full Text] [Related]
16. Encephalomyelopathy and polyneuropathy associated with neuronal vacuolation in two Boxer littermates.
Geiger DA; Miller AD; Cutter-Schatzberg K; Shelton GD; de Lahunta A; Schatzberg SJ
Vet Pathol; 2009 Nov; 46(6):1160-5. PubMed ID: 19605909
[TBL] [Abstract][Full Text] [Related]
17. Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome.
Wang Q; Qin T; Wang X; Li J; Lin X; Wang D; Lin Z; Zhang X; Li X; Lin H; Chen W
Genes (Basel); 2022 Dec; 13(12):. PubMed ID: 36553631
[TBL] [Abstract][Full Text] [Related]
18. Juvenile-onset polyneuropathy in American Staffordshire Terriers.
Vandenberghe H; Escriou C; Rosati M; Porcarelli L; Recio Caride A; Añor S; Gandini G; Corlazzoli D; Thibaud JL; Matiasek K; Blot S
J Vet Intern Med; 2018 Nov; 32(6):2003-2012. PubMed ID: 30315663
[TBL] [Abstract][Full Text] [Related]
19. A
Letko A; Minor KM; Friedenberg SG; Shelton GD; Salvador JP; Mandigers PJJ; Leegwater PAJ; Winkler PA; Petersen-Jones SM; Stanley BJ; Ekenstedt KJ; Johnson GS; Hansen L; Jagannathan V; Mickelson JR; Drögemüller C
Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33261176
[TBL] [Abstract][Full Text] [Related]
20. A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report.
Zhou D; Wang Q; Liu H
Medicine (Baltimore); 2021 Jan; 100(2):e22902. PubMed ID: 33466118
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]