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.
6. A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene. Seeman P; Paderova K; Benes V; Sistermans EA Int J Mol Med; 2002 Feb; 9(2):125-9. PubMed ID: 11786921 [TBL] [Abstract][Full Text] [Related]
7. X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations. Woodward K; Kirtland K; Dlouhy S; Raskind W; Bird T; Malcolm S; Abeliovich D Eur J Hum Genet; 2000 Jun; 8(6):449-54. PubMed ID: 10878666 [TBL] [Abstract][Full Text] [Related]
8. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Wolf NI; Sistermans EA; Cundall M; Hobson GM; Davis-Williams AP; Palmer R; Stubbs P; Davies S; Endziniene M; Wu Y; Chong WK; Malcolm S; Surtees R; Garbern JY; Woodward KJ Brain; 2005 Apr; 128(Pt 4):743-51. PubMed ID: 15689360 [TBL] [Abstract][Full Text] [Related]
9. Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease. Gao Q; Thurston VC; Vance GH; Dlouhy SR; Hodes ME Clin Genet; 2005 Nov; 68(5):466-7. PubMed ID: 16207216 [TBL] [Abstract][Full Text] [Related]
10. Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH. Woodward K; Kendall E; Vetrie D; Malcolm S Am J Hum Genet; 1998 Jul; 63(1):207-17. PubMed ID: 9634530 [TBL] [Abstract][Full Text] [Related]
11. Current concepts of PLP and its role in the nervous system. Griffiths I; Klugmann M; Anderson T; Thomson C; Vouyiouklis D; Nave KA Microsc Res Tech; 1998 Jun; 41(5):344-58. PubMed ID: 9672418 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. Sistermans EA; de Coo RF; De Wijs IJ; Van Oost BA Neurology; 1998 Jun; 50(6):1749-54. PubMed ID: 9633722 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Saugier-Veber P; Munnich A; Bonneau D; Rozet JM; Le Merrer M; Gil R; Boespflug-Tanguy O Nat Genet; 1994 Mar; 6(3):257-62. PubMed ID: 8012387 [TBL] [Abstract][Full Text] [Related]
16. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease. Carango P; Funanage VL; Quirós RE; Debruyn CS; Marks HG Ann Neurol; 1995 Oct; 38(4):610-7. PubMed ID: 7574457 [TBL] [Abstract][Full Text] [Related]
17. Prenatal diagnosis by FISH in a family with Pelizaeus-Merzbacher disease caused by duplication of PLP gene. Woodward K; Palmer R; Rao K; Malcolm S Prenat Diagn; 1999 Mar; 19(3):266-8. PubMed ID: 10210128 [TBL] [Abstract][Full Text] [Related]
18. Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease. Hodes ME; Blank CA; Pratt VM; Morales J; Napier J; Dlouhy SR Am J Med Genet; 1997 Mar; 69(2):121-5. PubMed ID: 9056547 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. [Duplication of the PLP gene and the classical form of Pelizaeus-Merzbacher disease]. Blanco-Barca MO; Eirís-Puñal J; Soler-Regal C; Castro-Gago M Rev Neurol; 2003 Sep 1-15; 37(5):436-8. PubMed ID: 14533091 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]