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 *

154 related articles for article (PubMed ID: 31004103)

  • 1. Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.
    Yamamoto-Shimojima K; Imaizumi T; Aoki Y; Inoue K; Kaname T; Okuno Y; Muramatsu H; Kato K; Yamamoto T
    J Hum Genet; 2019 Jul; 64(7):665-671. PubMed ID: 31004103
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
    Shiihara T; Watanabe M; Moriyama K; Uematsu M; Sameshima K
    Brain Dev; 2015 Apr; 37(4):455-8. PubMed ID: 25043250
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.
    Lee ES; Moon HK; Park YH; Garbern J; Hobson GM
    J Neurol Sci; 2004 Sep; 224(1-2):83-7. PubMed ID: 15450775
    [TBL] [Abstract][Full Text] [Related]  

  • 4. PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.
    Bonnet-Dupeyron MN; Combes P; Santander P; Cailloux F; Boespflug-Tanguy O; Vaurs-Barrière C
    Hum Mutat; 2008 Aug; 29(8):1028-36. PubMed ID: 18470932
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
    Hoffman-Zacharska D; Mierzewska H; Szczepanik E; Poznański J; Mazurczak T; Jakubiuk-Tomaszuk A; Mądry J; Kierdaszuk A; Bal J
    Med Wieku Rozwoj; 2013; 17(4):293-300. PubMed ID: 24519770
    [TBL] [Abstract][Full Text] [Related]  

  • 6. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
    Inoue K
    Neurogenetics; 2005 Feb; 6(1):1-16. PubMed ID: 15627202
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.
    Woodward KJ
    Expert Rev Mol Med; 2008 May; 10():e14. PubMed ID: 18485258
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype.
    Hoffman-Zacharska D; Kmieć T; Poznański J; Jurek M; Bal J
    Brain Dev; 2013 Oct; 35(9):877-80. PubMed ID: 23245814
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene.
    Hudson LD
    J Child Neurol; 2003 Sep; 18(9):616-24. PubMed ID: 14572140
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease.
    Xie H; Feng H; Ji J; Wu Y; Kou L; Li D; Ji H; Wu X; Niu Z; Wang J; Jiang Y
    Brain Dev; 2015 Sep; 37(8):797-802. PubMed ID: 25491635
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel PLP1 mutation further expands the clinical heterogeneity at the locus.
    Hand CK; Bernard G; Dubé MP; Shevell MI; Rouleau GA
    Can J Neurol Sci; 2012 Mar; 39(2):220-4. PubMed ID: 22343157
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.
    Scala M; Traverso M; Capra V; Vari MS; Severino M; Grossi S; Zara F; Striano P; Minetti C
    Neuropediatrics; 2019 Aug; 50(4):268-270. PubMed ID: 31137068
    [No Abstract]   [Full Text] [Related]  

  • 13. A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.
    Hobson G; Stabley D; Funanage V; Marks H
    Hum Mutat; 2001 Feb; 17(2):152. PubMed ID: 11180600
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms.
    Muncke N; Wogatzky BS; Breuning M; Sistermans EA; Endris V; Ross M; Vetrie D; Catsman-Berrevoets CE; Rappold G
    J Med Genet; 2004 Dec; 41(12):e121. PubMed ID: 15591263
    [No Abstract]   [Full Text] [Related]  

  • 15. Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Yamamoto T; Shimojima K
    Congenit Anom (Kyoto); 2013 Mar; 53(1):3-8. PubMed ID: 23480352
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.
    Laššuthová P; Žaliová M; Inoue K; Haberlová J; Sixtová K; Sakmaryová I; Paděrová K; Mazanec R; Zámečník J; Šišková D; Garbern J; Seeman P
    J Child Neurol; 2014 Jul; 29(7):924-31. PubMed ID: 23771846
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.
    Sima AA; Pierson CR; Woltjer RL; Hobson GM; Golden JA; Kupsky WJ; Schauer GM; Bird TD; Skoff RP; Garbern JY
    Acta Neuropathol; 2009 Oct; 118(4):531-9. PubMed ID: 19562355
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease.
    Elitt MS; Barbar L; Shick HE; Powers BE; Maeno-Hikichi Y; Madhavan M; Allan KC; Nawash BS; Gevorgyan AS; Hung S; Nevin ZS; Olsen HE; Hitomi M; Schlatzer DM; Zhao HT; Swayze A; LePage DF; Jiang W; Conlon RA; Rigo F; Tesar PJ
    Nature; 2020 Sep; 585(7825):397-403. PubMed ID: 32610343
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.
    Wang JM; Wu Y; Wang HF; Deng YH; Yang YL; Qin J; Li XY; Wu XR; Jiang YW
    Chin Med J (Engl); 2008 Sep; 121(17):1638-42. PubMed ID: 19024090
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Spanish family with spastic paraplegia and demyelinating polyneuropathy: a disease related with PLP1 null syndrome].
    Pardal-Fernandez JM
    Rev Neurol; 2012 Dec; 55(12):765. PubMed ID: 23233144
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.