BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 34012265)

  • 1. Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.
    Zhang T; Yan C; Liu Y; Cao L; Ji K; Li D; Chi L; Zhao Y
    Neuropsychiatr Dis Treat; 2021; 17():1451-1458. PubMed ID: 34012265
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients.
    Müller vom Hagen J; Karle KN; Schüle R; Krägeloh-Mann I; Schöls L
    Eur J Neurol; 2014 Jul; 21(7):983-8. PubMed ID: 24698313
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia.
    Chen YJ; Wang MW; Dong EL; Lin XH; Wang N; Zhang ZQ; Lin X; Chen WJ
    Parkinsonism Relat Disord; 2019 Aug; 65():256-260. PubMed ID: 31227335
    [TBL] [Abstract][Full Text] [Related]  

  • 4. An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
    Ashrafi MR; Amanat M; Garshasbi M; Kameli R; Nilipour Y; Heidari M; Rezaei Z; Tavasoli AR
    Expert Rev Neurother; 2020 Jan; 20(1):65-84. PubMed ID: 31829048
    [No Abstract]   [Full Text] [Related]  

  • 5. Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.
    Luo WJ; Wei Q; Dong HL; Yan YT; Chen MJ; Li HF
    Mol Genet Genomic Med; 2020 Jan; 8(1):e1065. PubMed ID: 31777199
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2.
    Matsufuji M; Osaka H; Gotoh L; Shimbo H; Takashima S; Inoue K
    Pediatr Neurol; 2013 Dec; 49(6):477-81. PubMed ID: 24095575
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Adulthood leukodystrophies.
    Köhler W; Curiel J; Vanderver A
    Nat Rev Neurol; 2018 Feb; 14(2):94-105. PubMed ID: 29302065
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Progress in leukodystrophies with zebrafish.
    Shih HY; Raas Q; Bonkowsky JL
    Dev Growth Differ; 2024 Jan; 66(1):21-34. PubMed ID: 38239149
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
    Balicza P; Grosz Z; Gonzalez MA; Bencsik R; Pentelenyi K; Gal A; Varga E; Klivenyi P; Koller J; Züchner S; Molnar JM
    J Neurol Sci; 2016 May; 364():116-21. PubMed ID: 27084228
    [TBL] [Abstract][Full Text] [Related]  

  • 10. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
    Goizet C; Boukhris A; Durr A; Beetz C; Truchetto J; Tesson C; Tsaousidou M; Forlani S; Guyant-Maréchal L; Fontaine B; Guimarães J; Isidor B; Chazouillères O; Wendum D; Grid D; Chevy F; Chinnery PF; Coutinho P; Azulay JP; Feki I; Mochel F; Wolf C; Mhiri C; Crosby A; Brice A; Stevanin G
    Brain; 2009 Jun; 132(Pt 6):1589-600. PubMed ID: 19439420
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
    Estrada-Cuzcano A; Martin S; Chamova T; Synofzik M; Timmann D; Holemans T; Andreeva A; Reichbauer J; De Rycke R; Chang DI; van Veen S; Samuel J; Schöls L; Pöppel T; Mollerup Sørensen D; Asselbergh B; Klein C; Zuchner S; Jordanova A; Vangheluwe P; Tournev I; Schüle R
    Brain; 2017 Feb; 140(2):287-305. PubMed ID: 28137957
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
    De la Casa-Fages B; Fernández-Eulate G; Gamez J; Barahona-Hernando R; Morís G; García-Barcina M; Infante J; Zulaica M; Fernández-Pelayo U; Muñoz-Oreja M; Urtasun M; Olaskoaga A; Zelaya V; Jericó I; Saez-Villaverde R; Catalina I; Sola E; Martínez-Sáez E; Pujol A; Ruiz M; Schlüter A; Spinazzola A; Muñoz-Blanco JL; Grandas F; Holt I; Álvarez V; López de Munaín A
    Mov Disord; 2019 Oct; 34(10):1547-1561. PubMed ID: 31433872
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings.
    Koutsis G; Lynch DS; Tucci A; Houlden H; Karadima G; Panas M
    J Neurol Sci; 2015 Aug; 355(1-2):199-201. PubMed ID: 26049658
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
    Klebe S; Depienne C; Gerber S; Challe G; Anheim M; Charles P; Fedirko E; Lejeune E; Cottineau J; Brusco A; Dollfus H; Chinnery PF; Mancini C; Ferrer X; Sole G; Destée A; Mayer JM; Fontaine B; de Seze J; Clanet M; Ollagnon E; Busson P; Cazeneuve C; Stevanin G; Kaplan J; Rozet JM; Brice A; Durr A
    Brain; 2012 Oct; 135(Pt 10):2980-93. PubMed ID: 23065789
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
    Iqbal Z; Rydning SL; Wedding IM; Koht J; Pihlstrøm L; Rengmark AH; Henriksen SP; Tallaksen CM; Toft M
    PLoS One; 2017; 12(3):e0174667. PubMed ID: 28362824
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes.
    Castellano A; Papinutto N; Cadioli M; Brugnara G; Iadanza A; Scigliuolo G; Pareyson D; Uziel G; Köhler W; Aubourg P; Falini A; Henry RG; Politi LS; Salsano E
    Brain; 2016 Jun; 139(Pt 6):1735-46. PubMed ID: 27068048
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.
    Mahdieh N; Soveizi M; Tavasoli AR; Rabbani A; Ashrafi MR; Kohlschütter A; Rabbani B
    Sci Rep; 2021 Feb; 11(1):3231. PubMed ID: 33547378
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia.
    Zhan ZX; Liao XX; Du J; Luo YY; Hu ZT; Wang JL; Yan XX; Zhang JG; Dai MZ; Zhang P; Xia K; Tang BS; Shen L
    Eur J Med Genet; 2013 Jul; 56(7):375-8. PubMed ID: 23664929
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.
    de Freitas JL; Rezende Filho FM; Sallum JMF; França MC; Pedroso JL; Barsottini OGP
    J Neurol Sci; 2020 Feb; 409():116620. PubMed ID: 31865189
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [A case of complicated form of hereditary spastic paraplegia associated with hypoplasia of the corpus callosum and cataracta].
    Tanaka M; Kobayashi Y; Sato M; Tsuji S
    Rinsho Shinkeigaku; 1995 Jul; 35(7):798-802. PubMed ID: 8777806
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.