BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

226 related articles for article (PubMed ID: 15214007)

  • 1. Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome.
    Henneke M; Wehner LE; Hennies HC; Preuss N; Gärtner J
    Am J Med Genet A; 2004 Jul; 128A(2):156-8. PubMed ID: 15214007
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.
    Nevin ZS; Factor DC; Karl RT; Douvaras P; Laukka J; Windrem MS; Goldman SA; Fossati V; Hobson GM; Tesar PJ
    Am J Hum Genet; 2017 Apr; 100(4):617-634. PubMed ID: 28366443
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.
    Pavlidou E; Ramachandran V; Govender V; Wilson C; Das R; Vlachou V; Pavlou E; Saggar A; Mankad K; Kinali M
    Brain Dev; 2017 Mar; 39(3):271-274. PubMed ID: 27793435
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.
    Plecko B; Stöckler-Ipsiroglu S; Gruber S; Mlynarik V; Moser E; Simbrunner J; Ebner F; Bernert G; Harrer G; Gal A; Prayer D
    Neuropediatrics; 2003 Jun; 34(3):127-36. PubMed ID: 12910435
    [TBL] [Abstract][Full Text] [Related]  

  • 6. PLP1 gene analysis in 88 patients with leukodystrophy.
    Martínez-Montero P; Muñoz-Calero M; Vallespín E; Campistol J; Martorell L; Ruiz-Falcó MJ; Santana A; Pons R; Dinopoulos A; Sierra C; Nevado J; Molano J
    Clin Genet; 2013 Dec; 84(6):566-71. PubMed ID: 23347225
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Oligodendroglial transcription factor (OLIG1 and OLIG2) mutations are not associated with Pelizaeus-Merzbacher-like leukodystrophy.
    Ruf N; Martelli M; Weschke B; Uhlenberg B
    Am J Med Genet B Neuropsychiatr Genet; 2007 Apr; 144B(3):365-6. PubMed ID: 17171653
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Neurogenetics of Pelizaeus-Merzbacher disease.
    Osório MJ; Goldman SA
    Handb Clin Neurol; 2018; 148():701-722. PubMed ID: 29478609
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
    Cailloux F; Gauthier-Barichard F; Mimault C; Isabelle V; Courtois V; Giraud G; Dastugue B; Boespflug-Tanguy O
    Eur J Hum Genet; 2000 Nov; 8(11):837-45. PubMed ID: 11093273
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
    Hobson GM; Garbern JY
    Semin Neurol; 2012 Feb; 32(1):62-7. PubMed ID: 22422208
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
    Lossos A; Elazar N; Lerer I; Schueler-Furman O; Fellig Y; Glick B; Zimmerman BE; Azulay H; Dotan S; Goldberg S; Gomori JM; Ponger P; Newman JP; Marreed H; Steck AJ; Schaeren-Wiemers N; Mor N; Harel M; Geiger T; Eshed-Eisenbach Y; Meiner V; Peles E
    Brain; 2015 Sep; 138(Pt 9):2521-36. PubMed ID: 26179919
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pelizaeus-Merzbacher disease: on the cusp of myelin medicine.
    Elitt MS; Tesar PJ
    Trends Mol Med; 2024 May; 30(5):459-470. PubMed ID: 38582621
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Gait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication.
    Clark K; Sakowski L; Sperle K; Banser L; Landel CP; Bessert DA; Skoff RP; Hobson GM
    J Neurosci; 2013 Jul; 33(29):11788-99. PubMed ID: 23864668
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease.
    Fukumura S; Adachi N; Nagao M; Tsutsumi H
    Brain Dev; 2011 Sep; 33(8):697-9. PubMed ID: 21177054
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
    Sumida K; Inoue K; Takanashi J; Sasaki M; Watanabe K; Suzuki M; Kurahashi H; Omata T; Tanaka M; Yokochi K; Iio J; Iyoda K; Kurokawa T; Matsuo M; Sato T; Iwaki A; Osaka H; Kurosawa K; Yamamoto T; Matsumoto N; Maikusa N; Matsuda H; Sato N
    Brain Dev; 2016 Jun; 38(6):571-80. PubMed ID: 26774704
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.