These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
24. 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]
25. 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]
26. 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]
27. Processing of PLP in a model of Pelizaeus-Merzbacher disease/SPG2 due to the rumpshaker mutation. McLaughlin M; Barrie JA; Karim S; Montague P; Edgar JM; Kirkham D; Thomson CE; Griffiths IR Glia; 2006 May; 53(7):715-22. PubMed ID: 16506223 [TBL] [Abstract][Full Text] [Related]
28. 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]
29. High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease. Bilir B; Yapici Z; Yalcinkaya C; Baris I; Carvalho CM; Bartnik M; Ozes B; Eraksoy M; Lupski JR; Battaloglu E Clin Genet; 2013 Jan; 83(1):66-72. PubMed ID: 22283455 [TBL] [Abstract][Full Text] [Related]
30. Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease. Meyer E; Kurian MA; Morgan NV; McNeill A; Pasha S; Tee L; Younis R; Norman A; van der Knaap MS; Wassmer E; Trembath RC; Brueton L; Maher ER Mol Genet Metab; 2011 Dec; 104(4):637-43. PubMed ID: 21959080 [TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Henneke M; Combes P; Diekmann S; Bertini E; Brockmann K; Burlina AP; Kaiser J; Ohlenbusch A; Plecko B; Rodriguez D; Boespflug-Tanguy O; Gärtner J Neurology; 2008 Mar; 70(10):748-54. PubMed ID: 18094336 [TBL] [Abstract][Full Text] [Related]