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 *

122 related articles for article (PubMed ID: 21397067)

  • 41. 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]  

  • 42. PELIZAEUS-MERZBACHER DISEASE. A STUDY IN NOSOLOGY.
    ZEMAN W; DEMYER W; FALLS HF
    J Neuropathol Exp Neurol; 1964 Apr; 23():334-54. PubMed ID: 14137679
    [No Abstract]   [Full Text] [Related]  

  • 43. N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease.
    Burlina AP; Ferrari V; Burlina AB; Ermani M; Boespflug-Tanguy O; Bertini E;
    Adv Exp Med Biol; 2006; 576():353-9; discussion 361-3. PubMed ID: 16802726
    [No Abstract]   [Full Text] [Related]  

  • 44. Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant.
    Hori I; Ieda D; Ito S; Ebe S; Nakamura Y; Ohashi K; Aoyama K; Hattori A; Kokubo M; Saitoh S
    Brain Dev; 2021 Apr; 43(4):590-595. PubMed ID: 33402283
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.
    Shimojima K; Inoue T; Hoshino A; Kakiuchi S; Watanabe Y; Sasaki M; Nishimura A; Takeshita-Yanagisawa A; Tajima G; Ozawa H; Kubota M; Tohyama J; Sasaki M; Oka A; Saito K; Osawa M; Yamamoto T
    Brain Dev; 2010 Mar; 32(3):171-9. PubMed ID: 19328639
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease.
    Ruf N; Uhlenberg B
    Am J Med Genet B Neuropsychiatr Genet; 2009 Mar; 150B(2):226-32. PubMed ID: 18521858
    [TBL] [Abstract][Full Text] [Related]  

  • 47. AIMP1 negatively regulates adipogenesis by inhibiting PPARγ.
    Kim JH; Lee JH; Park MC; Yoon I; Kim K; Lee M; Choi HS; Han JM; Kim S
    J Cell Sci; 2014 Oct; 127(Pt 20):4483-93. PubMed ID: 25146391
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea.
    Kim SJ; Yoon JS; Baek HJ; Suh SI; Bae SY; Cho HJ; Ki CS
    J Korean Med Sci; 2008 Apr; 23(2):328-31. PubMed ID: 18437021
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS).
    Gupta S; Schwab M; Valdez-Gonzalez K; Segal E
    Eur J Med Genet; 2020 Sep; 63(9):103970. PubMed ID: 32531460
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 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]  

  • 51. Modeling the natural history of Pelizaeus-Merzbacher disease.
    Mayer JA; Griffiths IR; Goldman JE; Smith CM; Cooksey E; Radcliff AB; Duncan ID
    Neurobiol Dis; 2015 Mar; 75():115-30. PubMed ID: 25562656
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
    Uhlenberg B; Schuelke M; Rüschendorf F; Ruf N; Kaindl AM; Henneke M; Thiele H; Stoltenburg-Didinger G; Aksu F; Topaloğlu H; Nürnberg P; Hübner C; Weschke B; Gärtner J
    Am J Hum Genet; 2004 Aug; 75(2):251-60. PubMed ID: 15192806
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.
    Garbern JY
    Cell Mol Life Sci; 2007 Jan; 64(1):50-65. PubMed ID: 17115121
    [TBL] [Abstract][Full Text] [Related]  

  • 54. A brief history of Pelizaeus-Merzbacher disease and proteolipid protein.
    Koeppen AH
    J Neurol Sci; 2005 Feb; 228(2):198-200. PubMed ID: 15694205
    [No Abstract]   [Full Text] [Related]  

  • 55. Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation.
    Osaka H; Koizume S; Aoyama H; Iwamoto H; Kimura S; Nagai J; Kurosawa K; Yamashita S
    Brain Dev; 2010 Oct; 32(9):703-7. PubMed ID: 20022439
    [TBL] [Abstract][Full Text] [Related]  

  • 56. 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]  

  • 57. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
    Magen D; Georgopoulos C; Bross P; Ang D; Segev Y; Goldsher D; Nemirovski A; Shahar E; Ravid S; Luder A; Heno B; Gershoni-Baruch R; Skorecki K; Mandel H
    Am J Hum Genet; 2008 Jul; 83(1):30-42. PubMed ID: 18571143
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.
    Kammoun Jellouli N; Salem IH; Ellouz E; Louhichi N; tlili A; Kammoun F; Triki C; Fakhfakh F;
    Gene; 2013 Jan; 513(2):233-8. PubMed ID: 23142375
    [TBL] [Abstract][Full Text] [Related]  

  • 59. 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]  

  • 60. Antitumor activity of the novel human cytokine AIMP1 in an in vivo tumor model.
    Lee YS; Han JM; Kang T; Park YI; Kim HM; Kim S
    Mol Cells; 2006 Apr; 21(2):213-7. PubMed ID: 16682815
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.