254 related articles for article (PubMed ID: 25156430)
1. Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations.
Laukka JJ; Makki MI; Lafleur T; Stanley J; Kamholz J; Garbern JY
J Neurosci Res; 2014 Dec; 92(12):1723-32. PubMed ID: 25156430
[TBL] [Abstract][Full Text] [Related]
2. The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
Hoffman-Zacharska D; Mierzewska H; Szczepanik E; Poznański J; Mazurczak T; Jakubiuk-Tomaszuk A; Mądry J; Kierdaszuk A; Bal J
Med Wieku Rozwoj; 2013; 17(4):293-300. PubMed ID: 24519770
[TBL] [Abstract][Full Text] [Related]
3. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.
Shimojima K; Inoue T; Hoshino A; Kakiuchi S; Watanabe Y; Sasaki M; Nishimura A; Takeshita-Yanagisawa A; Tajima G; Ozawa H; Kubota M; Tohyama J; Sasaki M; Oka A; Saito K; Osawa M; Yamamoto T
Brain Dev; 2010 Mar; 32(3):171-9. PubMed ID: 19328639
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Novel pathologic findings in patients with Pelizaeus-Merzbacher disease.
Laukka JJ; Kamholz J; Bessert D; Skoff RP
Neurosci Lett; 2016 Aug; 627():222-32. PubMed ID: 27222925
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease.
Laukka JJ; Stanley JA; Garbern JY; Trepanier A; Hobson G; Lafleur T; Gow A; Kamholz J
J Neurol Sci; 2013 Dec; 335(1-2):75-81. PubMed ID: 24139698
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype.
Hoffman-Zacharska D; Kmieć T; Poznański J; Jurek M; Bal J
Brain Dev; 2013 Oct; 35(9):877-80. PubMed ID: 23245814
[TBL] [Abstract][Full Text] [Related]
10. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.
Lee ES; Moon HK; Park YH; Garbern J; Hobson GM
J Neurol Sci; 2004 Sep; 224(1-2):83-7. PubMed ID: 15450775
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease.
Fukumura S; Adachi N; Nagao M; Tsutsumi H
Brain Dev; 2011 Sep; 33(8):697-9. PubMed ID: 21177054
[TBL] [Abstract][Full Text] [Related]
15. The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.
Woodward KJ
Expert Rev Mol Med; 2008 May; 10():e14. PubMed ID: 18485258
[TBL] [Abstract][Full Text] [Related]
16. Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.
Wang JM; Wu Y; Wang HF; Deng YH; Yang YL; Qin J; Li XY; Wu XR; Jiang YW
Chin Med J (Engl); 2008 Sep; 121(17):1638-42. PubMed ID: 19024090
[TBL] [Abstract][Full Text] [Related]
17. A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.
Pavlidou E; Ramachandran V; Govender V; Wilson C; Das R; Vlachou V; Pavlou E; Saggar A; Mankad K; Kinali M
Brain Dev; 2017 Mar; 39(3):271-274. PubMed ID: 27793435
[TBL] [Abstract][Full Text] [Related]
18. High-resolution diffusion tensor imaging of fixed brain in a mouse model of Pelizaeus-Merzbacher disease: comparison with quantitative measures of white matter pathology.
Ruest T; Holmes WM; Barrie JA; Griffiths IR; Anderson TJ; Dewar D; Edgar JM
NMR Biomed; 2011 Dec; 24(10):1369-79. PubMed ID: 22223367
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease.
Miller E; Widjaja E; Nilsson D; Yoon G; Banwell B; Blaser S
Am J Med Genet A; 2010 Mar; 152A(3):748-52. PubMed ID: 20186781
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
