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2. Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group. Boespflug-Tanguy O; Mimault C; Melki J; Cavagna A; Giraud G; Pham Dinh D; Dastugue B; Dautigny A Am J Hum Genet; 1994 Sep; 55(3):461-7. PubMed ID: 7915877 [TBL] [Abstract][Full Text] [Related]
3. Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease. Inoue K; Osaka H; Kawanishi C; Sugiyama N; Ishii M; Sugita K; Yamada Y; Kosaka K Neurology; 1997 Jan; 48(1):283-5. PubMed ID: 9008538 [TBL] [Abstract][Full Text] [Related]
4. Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease. Wang PJ; Hwu WL; Lee WT; Wang TR; Shen YZ Pediatr Neurol; 1997 Sep; 17(2):125-8. PubMed ID: 9367291 [TBL] [Abstract][Full Text] [Related]
5. 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]
7. 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]
8. Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Gencic S; Abuelo D; Ambler M; Hudson LD Am J Hum Genet; 1989 Sep; 45(3):435-42. PubMed ID: 2773936 [TBL] [Abstract][Full Text] [Related]
9. Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease. Mimault C; Giraud G; Courtois V; Cailloux F; Boire JY; Dastugue B; Boespflug-Tanguy O Am J Hum Genet; 1999 Aug; 65(2):360-9. PubMed ID: 10417279 [TBL] [Abstract][Full Text] [Related]
10. Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred. Pratt VM; Kiefer JR; Lähdetie J; Schleutker J; Hodes ME; Dlouhy SR Am J Hum Genet; 1993 Jun; 52(6):1053-6. PubMed ID: 7684886 [TBL] [Abstract][Full Text] [Related]
11. A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease. Kurosawa K; Iwaki A; Miyake S; Imaizumi K; Kuroki Y; Fukumaki Y Hum Mol Genet; 1993 Dec; 2(12):2187-9. PubMed ID: 7509234 [TBL] [Abstract][Full Text] [Related]
12. Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. Doll R; Natowicz MR; Schiffmann R; Smith FI Am J Hum Genet; 1992 Jul; 51(1):161-9. PubMed ID: 1376966 [TBL] [Abstract][Full Text] [Related]
13. A novel mutation in the proteolipid protein gene leading to Pelizaeus-Merzbacher disease. Otterbach B; Stoffel W; Ramaekers V Biol Chem Hoppe Seyler; 1993 Jan; 374(1):75-83. PubMed ID: 7679906 [TBL] [Abstract][Full Text] [Related]
14. Genetics of Pelizaeus-Merzbacher disease. Hodes ME; Pratt VM; Dlouhy SR Dev Neurosci; 1993; 15(6):383-94. PubMed ID: 7530633 [TBL] [Abstract][Full Text] [Related]
15. Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. Trofatter JA; Dlouhy SR; DeMyer W; Conneally PM; Hodes ME Proc Natl Acad Sci U S A; 1989 Dec; 86(23):9427-30. PubMed ID: 2480601 [TBL] [Abstract][Full Text] [Related]
16. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Raskind WH; Williams CA; Hudson LD; Bird TD Am J Hum Genet; 1991 Dec; 49(6):1355-60. PubMed ID: 1720927 [TBL] [Abstract][Full Text] [Related]
17. Distinct phenotypes associated with increasing dosage of the PLP gene: implications for CMT1A due to PMP22 gene duplication. Anderson TJ; Klugmann M; Thomson CE; Schneider A; Readhead C; Nave KA; Griffiths IR Ann N Y Acad Sci; 1999 Sep; 883():234-46. PubMed ID: 10586248 [TBL] [Abstract][Full Text] [Related]
18. A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis. Weimbs T; Dick T; Stoffel W; Boltshauser E Biol Chem Hoppe Seyler; 1990 Dec; 371(12):1175-83. PubMed ID: 1708672 [TBL] [Abstract][Full Text] [Related]
19. New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease. Pratt VM; Trofatter JA; Larsen MB; Hodes ME; Dlouhy SR Am J Med Genet; 1992 Jun; 43(3):642-6. PubMed ID: 1376553 [TBL] [Abstract][Full Text] [Related]
20. In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease. Kleindorfer DO; Dlouhy SR; Pratt VM; Jones MC; Trofatter JA; Hodes ME Am J Med Genet; 1995 Feb; 55(4):405-7. PubMed ID: 7539213 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]