These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

202 related articles for article (PubMed ID: 24628589)

  • 1. Infantile neuroaxonal dystrophy caused by uniparental disomy.
    Solomons J; Ridgway O; Hardy C; Kurian MA; Jayawant S; Hughes S; Pretorius P; Németh AH
    Dev Med Child Neurol; 2014 Apr; 56(4):386-9. PubMed ID: 24628589
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.
    Al-Maawali A; Yoon G; Feigenbaum AS; Halliday WC; Clarke JT; Branson HM; Banwell BL; Chitayat D; Blaser SI
    Neuroradiology; 2016 Oct; 58(10):1035-1042. PubMed ID: 27516098
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report.
    Frattini D; Nardocci N; Pascarella R; Panteghini C; Garavaglia B; Fusco C
    Brain Dev; 2015 Feb; 37(2):270-2. PubMed ID: 24800972
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.
    Biancheri R; Rossi A; Alpigiani G; Filocamo M; Gandolfo C; Lorini R; Minetti C
    Eur J Paediatr Neurol; 2007 May; 11(3):175-7. PubMed ID: 17254819
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.
    Romani M; Kraoua I; Micalizzi A; Klaa H; Benrhouma H; Drissi C; Turki I; Castellana S; Mazza T; Valente EM; Gouider-Khouja N
    Eur J Neurol; 2015 Jan; 22(1):178-86. PubMed ID: 25164370
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Infantile neuroaxonal dystrophy: what's most important for the diagnosis?
    Carrilho I; Santos M; Guimarães A; Teixeira J; Chorão R; Martins M; Dias C; Gregory A; Westaway S; Nguyen T; Hayflick S; Barbot C
    Eur J Paediatr Neurol; 2008 Nov; 12(6):491-500. PubMed ID: 18359254
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.
    Iodice A; Spagnoli C; Salerno GG; Frattini D; Bertani G; Bergonzini P; Pisani F; Fusco C
    Brain Dev; 2017 Feb; 39(2):93-100. PubMed ID: 27884548
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.
    Tonelli A; Romaniello R; Grasso R; Cavallini A; Righini A; Bresolin N; Borgatti R; Bassi MT
    Clin Genet; 2010 Nov; 78(5):432-40. PubMed ID: 20584031
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.
    Iannello G; Graziano C; Cenacchi G; Cordelli DM; Zuntini R; Papa V; Magistà AM; Gagliardi M; Procopio R; Quattrone A; Annesi G
    J Neurol Sci; 2017 Oct; 381():209-212. PubMed ID: 28991683
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants.
    Li L; Fong CY; Tay CG; Tae SK; Suzuki H; Kosaki K; Thong MK
    J Clin Neurosci; 2020 Jan; 71():289-292. PubMed ID: 31493991
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.
    Zhang P; Gao Z; Jiang Y; Wang J; Zhang F; Wang S; Yang Y; Xiong H; Zhang Y; Bao X; Xiao J; Wu X; Wu Y
    Eur J Neurol; 2013 Feb; 20(2):322-30. PubMed ID: 22934738
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.
    Kapoor S; Shah MH; Singh N; Rather MI; Bhat V; Gopinath S; Bindu PS; Taly AB; Sinha S; Nagappa M; Bharath RD; Mahadevan A; Narayanappa G; Chickabasaviah YT; Kumar A
    PLoS One; 2016; 11(5):e0155605. PubMed ID: 27196560
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing].
    Lu Y; Liu CH; Wang Y
    Zhongguo Dang Dai Er Ke Za Zhi; 2019 Sep; 21(9):851-855. PubMed ID: 31506141
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD).
    Singh S; Mishra SC; Israrahmed A; Lal H
    BMJ Case Rep; 2021 Mar; 14(3):. PubMed ID: 33766980
    [No Abstract]   [Full Text] [Related]  

  • 15. Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
    Dehnavi AZ; Bemanalizadeh M; Kahani SM; Ashrafi MR; Rohani M; Toosi MB; Heidari M; Hosseinpour S; Amini B; Zokaei S; Rezaei Z; Aryan H; Amanat M; Vahidnezhad H; Mohammadi P; Garshasbi M; Tavasoli AR
    Orphanet J Rare Dis; 2023 Jul; 18(1):177. PubMed ID: 37403138
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neurons and astrocytes in an infantile neuroaxonal dystrophy (INAD) mouse model show characteristic alterations in glutamate-induced Ca
    Strokin M; Reiser G
    Neurochem Int; 2017 Sep; 108():121-132. PubMed ID: 28279750
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy.
    Rostampour D; Zolfaghari MR; Gholami M
    J Clin Lab Anal; 2022 Mar; 36(3):e24253. PubMed ID: 35092705
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.
    Wu Y; Jiang Y; Gao Z; Wang J; Yuan Y; Xiong H; Chang X; Bao X; Zhang Y; Xiao J; Wu X
    Eur J Neurol; 2009 Feb; 16(2):240-5. PubMed ID: 19138334
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.
    Engel LA; Jing Z; O'Brien DE; Sun M; Kotzbauer PT
    PLoS One; 2010 Sep; 5(9):e12897. PubMed ID: 20886109
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mouse models of human INAD by Pla2g6 deficiency.
    Wada H; Kojo S; Seino K
    Histol Histopathol; 2013 Aug; 28(8):965-9. PubMed ID: 23467909
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.