330 related articles for article (PubMed ID: 23245814)
21. A novel PLP1 mutation further expands the clinical heterogeneity at the locus.
Hand CK; Bernard G; Dubé MP; Shevell MI; Rouleau GA
Can J Neurol Sci; 2012 Mar; 39(2):220-4. PubMed ID: 22343157
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.
Hübner CA; Orth U; Senning A; Steglich C; Kohlschütter A; Korinthenberg R; Gal A
Hum Mutat; 2005 Mar; 25(3):321-2. PubMed ID: 15712223
[TBL] [Abstract][Full Text] [Related]
24. Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation.
Osaka H; Koizume S; Aoyama H; Iwamoto H; Kimura S; Nagai J; Kurosawa K; Yamashita S
Brain Dev; 2010 Oct; 32(9):703-7. PubMed ID: 20022439
[TBL] [Abstract][Full Text] [Related]
25. Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease.
Xie H; Feng H; Ji J; Wu Y; Kou L; Li D; Ji H; Wu X; Niu Z; Wang J; Jiang Y
Brain Dev; 2015 Sep; 37(8):797-802. PubMed ID: 25491635
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.
Seeman P; Paderova K; Benes V; Sistermans EA
Int J Mol Med; 2002 Feb; 9(2):125-9. PubMed ID: 11786921
[TBL] [Abstract][Full Text] [Related]
28. Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
Masliah-Planchon J; Dupont C; Vartzelis G; Trimouille A; Eymard-Pierre E; Gay-Bellile M; Renaldo F; Dorboz I; Pagan C; Quentin S; Elmaleh M; Kotsogianni C; Konstantelou E; Drunat S; Tabet AC; Boespflug-Tanguy O
BMC Med Genet; 2015 Sep; 16():77. PubMed ID: 26329556
[TBL] [Abstract][Full Text] [Related]
29. PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.
Mądry J; Hoffman-Zacharska D; Królicki L; Jakuciński M; Friedman A
Neurol Neurochir Pol; 2010; 44(5):511-5. PubMed ID: 21082496
[TBL] [Abstract][Full Text] [Related]
30. [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]
31. 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]
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. Neurogenetics of Pelizaeus-Merzbacher disease.
Osório MJ; Goldman SA
Handb Clin Neurol; 2018; 148():701-722. PubMed ID: 29478609
[TBL] [Abstract][Full Text] [Related]
34. Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'.
Svenstrup K; Giraud G; Boespflug-Tanguy O; Danielsen ER; Thomsen C; Rasmussen K; Law I; Vogel A; Stokholm J; Crone C; Hjermind LE; Nielsen JE
J Neurol Neurosurg Psychiatry; 2010 Jun; 81(6):666-72. PubMed ID: 19955111
[TBL] [Abstract][Full Text] [Related]
35. The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
Sumida K; Inoue K; Takanashi J; Sasaki M; Watanabe K; Suzuki M; Kurahashi H; Omata T; Tanaka M; Yokochi K; Iio J; Iyoda K; Kurokawa T; Matsuo M; Sato T; Iwaki A; Osaka H; Kurosawa K; Yamamoto T; Matsumoto N; Maikusa N; Matsuda H; Sato N
Brain Dev; 2016 Jun; 38(6):571-80. PubMed ID: 26774704
[TBL] [Abstract][Full Text] [Related]
36. Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.
Sivakumar K; Sambuughin N; Selenge B; Nagle JW; Baasanjav D; Hudson LD; Goldfarb LG
Ann Neurol; 1999 May; 45(5):680-3. PubMed ID: 10319897
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. 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]
39. Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes.
Inoue K
Adv Exp Med Biol; 2019; 1190():201-216. PubMed ID: 31760646
[TBL] [Abstract][Full Text] [Related]
40. PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.
Fonseca AC; Bonaldi A; Costa SS; Freitas MR; Kok F; Vianna-Morgante AM
Clin Genet; 2013 Feb; 83(2):169-74. PubMed ID: 22320281
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
