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8. Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studies. Kaye EM; Doll RF; Natowicz MR; Smith FI Ann Neurol; 1994 Dec; 36(6):916-9. PubMed ID: 7998780 [TBL] [Abstract][Full Text] [Related]
9. Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging? Boltshauser E; Schinzel A; Wichmann W; Haller D; Valavanis A Helv Paediatr Acta; 1987; 42(4):337-9. PubMed ID: 3443555 [No Abstract] [Full Text] [Related]
10. [Disease of Pelizaeus-Merzbacher in 3 siblings]. Zielińska S; Prot J; Badurska B Neurol Neurochir Pol; 1968; 2(1):113-6. PubMed ID: 5675649 [No Abstract] [Full Text] [Related]
11. 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]
12. [Genetic contribution to the study of the Addison-Schilder syndrome]. Chamoles ND; Hainaut H; Hariga J J Neurol Sci; 1971 Dec; 14(4):457-62. PubMed ID: 5125759 [No Abstract] [Full Text] [Related]
13. Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene. Pratt VM; Boyadjiev S; Dlouhy SR; Silver K; Der Kaloustian VM; Hodes ME Am J Med Genet; 1995 Feb; 55(4):402-4. PubMed ID: 7539212 [TBL] [Abstract][Full Text] [Related]
14. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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] [Next] [New Search]