140 related articles for article (PubMed ID: 7541900)
21. 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]
22. Connatal Pelizaeus-Merzbacher disease associated with the jimpy(msd) mice mutation.
Komaki H; Sasaki M; Yamamoto T; Iai M; Takashima S
Pediatr Neurol; 1999 Apr; 20(4):309-11. PubMed ID: 10328282
[TBL] [Abstract][Full Text] [Related]
23. Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq.
Lazzarini A; Schwarz KO; Jiang S; Stenroos ES; Lehner T; Johnson WG
Neurology; 1997 Sep; 49(3):824-32. PubMed ID: 9305348
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.
Strautnieks S; Rutland P; Winter RM; Baraitser M; Malcolm S
Am J Hum Genet; 1992 Oct; 51(4):871-8. PubMed ID: 1384324
[TBL] [Abstract][Full Text] [Related]
26. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.
Hudson LD; Puckett C; Berndt J; Chan J; Gencic S
Proc Natl Acad Sci U S A; 1989 Oct; 86(20):8128-31. PubMed ID: 2479017
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.
Iwaki A; Muramoto T; Iwaki I; Furumi H; Dario-deLeon ML; Tateishi J; Fukumaki Y
Hum Mol Genet; 1993 Jan; 2(1):19-22. PubMed ID: 7683951
[TBL] [Abstract][Full Text] [Related]
29. RFLP detected by a genomic probe from the human X-linked proteolipid protein gene, PLP.
Raskind WH; Wolff J; Hudson LD; Bird TD
Hum Mol Genet; 1992 Jul; 1(4):288. PubMed ID: 1284628
[No Abstract] [Full Text] [Related]
30. Connatal Pelizaeus-Merzbacher disease: an autosomal recessive form.
Cassidy SB; Sheehan NC; Farrell DF; Grunnet M; Holmes GL; Zimmerman AW
Pediatr Neurol; 1987; 3(5):300-5. PubMed ID: 3508078
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.
Pham-Dinh D; Popot JL; Boespflug-Tanguy O; Landrieu P; Deleuze JF; Boué J; Jollès P; Dautigny A
Proc Natl Acad Sci U S A; 1991 Sep; 88(17):7562-6. PubMed ID: 1715570
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria.
Naidu S; Dlouhy SR; Geraghty MT; Hodes ME
J Inherit Metab Dis; 1997 Nov; 20(6):811-6. PubMed ID: 9427151
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.
Hodes ME; Aydanian A; Dlouhy SR; Whelan DT; Heshka T; Ronen G
Clin Genet; 1998 Sep; 54(3):248-9. PubMed ID: 9788732
[No Abstract] [Full Text] [Related]
37. [Female autopsy case of Seitelberger's connatal form of Pelizaeus-Merzbacher disease].
Shimizu Y; Shioda K; Takada K; Minagawa M; Isshiki T
No To Hattatsu; 1997 Nov; 29(6):507-13. PubMed ID: 9394608
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. A new proteolipid lipoprotein mutation in Pelizaeus-Merzbacher disease.
Verhagen WI; Huygen PL; Smeets HJ; Renier WO; de Wijs I
J Neurol Sci; 1997 Apr; 147(2):215-6. PubMed ID: 9106132
[No Abstract] [Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]