476 related articles for article (PubMed ID: 24103481)
21. Pelizaeus-Merzbacher disease as a chromosomal disorder.
Yamamoto T; Shimojima K
Congenit Anom (Kyoto); 2013 Mar; 53(1):3-8. PubMed ID: 23480352
[TBL] [Abstract][Full Text] [Related]
22. A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
Shiihara T; Watanabe M; Moriyama K; Uematsu M; Sameshima K
Brain Dev; 2015 Apr; 37(4):455-8. PubMed ID: 25043250
[TBL] [Abstract][Full Text] [Related]
23. Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
Biancheri R; Grossi S; Regis S; Rossi A; Corsolini F; Rossi DP; Cavalli P; Severino M; Filocamo M
Clin Genet; 2014 Mar; 85(3):267-72. PubMed ID: 23711321
[TBL] [Abstract][Full Text] [Related]
24. The myelin proteolipid DMα in fishes.
Brösamle C
Neuron Glia Biol; 2010 May; 6(2):109-12. PubMed ID: 19508742
[TBL] [Abstract][Full Text] [Related]
25. Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.
Cambi F; Tang XM; Cordray P; Fain PR; Keppen LD; Barker DF
Neurology; 1996 Apr; 46(4):1112-7. PubMed ID: 8780101
[TBL] [Abstract][Full Text] [Related]
26. [Pelizaeus-Merzbacher disease(PMD)/spastic paraplegia 2(SPG2)].
Eto Y
Ryoikibetsu Shokogun Shirizu; 2000; (29 Pt 4):536-7. PubMed ID: 11032015
[No Abstract] [Full Text] [Related]
27. Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.
Grossi S; Regis S; Biancheri R; Mort M; Lualdi S; Bertini E; Uziel G; Boespflug-Tanguy O; Simonati A; Corsolini F; Demir E; Marchiani V; Percesepe A; Stanzial F; Rossi A; Vaurs-Barrière C; Cooper DN; Filocamo M
Orphanet J Rare Dis; 2011 Jun; 6():40. PubMed ID: 21679407
[TBL] [Abstract][Full Text] [Related]
28. PLP1 gene mutations cause spastic paraplegia type 2 in three families.
Yao L; Zhu Z; Zhang C; Tian W; Cao L
Ann Clin Transl Neurol; 2023 Mar; 10(3):328-338. PubMed ID: 36622199
[TBL] [Abstract][Full Text] [Related]
29. Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.
Shimojima K; Inoue T; Imai Y; Arai Y; Komoike Y; Sugawara M; Fujita T; Ideguchi H; Yasumoto S; Kanno H; Hirose S; Yamamoto T
J Hum Genet; 2012 Sep; 57(9):580-6. PubMed ID: 22695888
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.
Laššuthová P; Žaliová M; Inoue K; Haberlová J; Sixtová K; Sakmaryová I; Paděrová K; Mazanec R; Zámečník J; Šišková D; Garbern J; Seeman P
J Child Neurol; 2014 Jul; 29(7):924-31. PubMed ID: 23771846
[TBL] [Abstract][Full Text] [Related]
32. Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
Fattal-Valevski A; DiMaio MS; Hisama FM; Hobson GM; Davis-Williams A; Garbern JY; Mahoney MJ; Kolodny EH; Pastores GM
J Child Neurol; 2009 May; 24(5):618-24. PubMed ID: 19151366
[TBL] [Abstract][Full Text] [Related]
33. PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.
Combes P; Bonnet-Dupeyron MN; Gauthier-Barichard F; Schiffmann R; Bertini E; Rodriguez D; Armour JA; Boespflug-Tanguy O; Vaurs-Barrière C
Neurogenetics; 2006 Mar; 7(1):31-7. PubMed ID: 16416265
[TBL] [Abstract][Full Text] [Related]
34. PLP1 gene analysis in 88 patients with leukodystrophy.
Martínez-Montero P; Muñoz-Calero M; Vallespín E; Campistol J; Martorell L; Ruiz-Falcó MJ; Santana A; Pons R; Dinopoulos A; Sierra C; Nevado J; Molano J
Clin Genet; 2013 Dec; 84(6):566-71. PubMed ID: 23347225
[TBL] [Abstract][Full Text] [Related]
35. A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.
Hobson G; Stabley D; Funanage V; Marks H
Hum Mutat; 2001 Feb; 17(2):152. PubMed ID: 11180600
[TBL] [Abstract][Full Text] [Related]
36. Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.
Hobson GM; Huang Z; Sperle K; Sistermans E; Rogan PK; Garbern JY; Kolodny E; Naidu S; Cambi F
Hum Mutat; 2006 Jan; 27(1):69-77. PubMed ID: 16287154
[TBL] [Abstract][Full Text] [Related]
37. Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.
Hebbar M; Shukla A; Nampoothiri S; Bielas S; Girisha KM
J Hum Genet; 2019 Jan; 64(1):17-21. PubMed ID: 30337681
[TBL] [Abstract][Full Text] [Related]
38. Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease.
Koizume S; Takizawa S; Fujita K; Aida N; Yamashita S; Miyagi Y; Osaka H
Neuroscience; 2006 Sep; 141(4):1861-9. PubMed ID: 16844304
[TBL] [Abstract][Full Text] [Related]
39. CNS myelination and PLP gene dosage.
Woodward K; Malcolm S
Pharmacogenomics; 2001 Aug; 2(3):263-72. PubMed ID: 11535114
[TBL] [Abstract][Full Text] [Related]
40. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males.
Osaka H; Kawanishi C; Inoue K; Uesugi H; Hiroshi K; Nishiyama K; Yamada Y; Suzuki K; Kimura S; Kosaka K
Biochem Biophys Res Commun; 1995 Oct; 215(3):835-41. PubMed ID: 7488049
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
