133 related articles for article (PubMed ID: 9394608)
1. [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]
2. Seitelberger's connatal form of Pelizaeus-Merzbacher Disease. Case report, clinical, pathological and biochemical findings.
Ulrich J; Herschkowitz N
Acta Neuropathol; 1977 Oct; 40(2):129-36. PubMed ID: 201145
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. [Pelizaeus-Merzbacher disease].
Koetsveld-Baart JC; Glaudemans-van Gelderen IE; Valk J; Barth PG
Ned Tijdschr Geneeskd; 1993 Nov; 137(48):2494-8. PubMed ID: 8272126
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Autosomal recessive form of connatal Pelizaeus-Merzbacher disease.
Begleiter ML; Harris DJ
Am J Med Genet; 1989 Jul; 33(3):311-3. PubMed ID: 2679088
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease.
Koeppen AH; Ronca NA; Greenfield EA; Hans MB
Ann Neurol; 1987 Feb; 21(2):159-70. PubMed ID: 3827224
[TBL] [Abstract][Full Text] [Related]
10. Pelizaeus-Merzbacher disease: classical or connatal?
Scheffer IE; Baraitser M; Wilson J; Harding B; Kendall B; Brett EM
Neuropediatrics; 1991 May; 22(2):71-8. PubMed ID: 1857497
[TBL] [Abstract][Full Text] [Related]
11. Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins.
Renier WO; Gabreëls FJ; Hustinx TW; Jaspar HH; Geelen JA; Van Haelst UJ; Lommen EJ; Ter Haar BG
Acta Neuropathol; 1981; 54(1):11-7. PubMed ID: 7234326
[TBL] [Abstract][Full Text] [Related]
12. Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.
Pratt VM; Dlouhy SR; Hodes ME
Clin Genet; 1995 Feb; 47(2):99-100. PubMed ID: 7541731
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.
Nagao M; Kadowaki J
J Hum Genet; 1998; 43(3):206-8. PubMed ID: 9747038
[TBL] [Abstract][Full Text] [Related]
15. Pelizaeus-Merzbacher disease in a brother and sister.
Pamphlett R; Silberstein P
Acta Neuropathol; 1986; 69(3-4):343-6. PubMed ID: 3962612
[TBL] [Abstract][Full Text] [Related]
16. Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease.
Yamamoto T; Nanba E; Zhang H; Sasaki M; Komaki H; Takeshita K
Am J Med Genet; 1998 Feb; 75(4):439-40. PubMed ID: 9482656
[No Abstract] [Full Text] [Related]
17. A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene.
Harding B; Ellis D; Malcolm S
Neuropathol Appl Neurobiol; 1995 Apr; 21(2):111-5. PubMed ID: 7541900
[TBL] [Abstract][Full Text] [Related]
18. Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene.
Bond C; Si X; Crisp M; Wong P; Paulson GW; Boesel CP; Dlouhy SR; Hodes ME
Am J Med Genet; 1997 Aug; 71(3):357-60. PubMed ID: 9268109
[TBL] [Abstract][Full Text] [Related]
19. Arthrogryposis associated with connatal Pelizaeus-Merzbacher disease: case report.
Novotny EJ
Neuropediatrics; 1988 Nov; 19(4):221-3. PubMed ID: 3205380
[TBL] [Abstract][Full Text] [Related]
20. A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.
Yamamoto T; Nanba E
Hum Mutat; 1999 Aug; 14(2):182. PubMed ID: 10425042
[No Abstract] [Full Text] [Related]
[Next] [New Search]
