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11. Changes in object recognition and anxiety-like behaviour in mice expressing a Cx47 mutation that causes Pelizaeus-Merzbacher-like disease. Zlomuzica A; Tress O; Binder S; Rovira C; Willecke K; Dere E Dev Neurosci; 2012; 34(2-3):277-87. PubMed ID: 22832166 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. Hudson LD J Child Neurol; 2003 Sep; 18(9):616-24. PubMed ID: 14572140 [TBL] [Abstract][Full Text] [Related]
14. Corrigendum to "Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations." [Mol. Genet. Metab. (Aug 2016); 118(4): 264-71]. Chu J; Pupavac M; Watkins D; Tian X; Feng Y; Chen S; Fenter R; Zhang VW; Wang J; Wong LJ; Rosenblatt DS Mol Genet Metab; 2017 Mar; 120(3):295. PubMed ID: 28284539 [No Abstract] [Full Text] [Related]
15. Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. Vaurs-Barrière C; Deville M; Sarret C; Giraud G; Des Portes V; Prats-Viñas JM; De Michele G; Dan B; Brady AF; Boespflug-Tanguy O; Touraine R Ann Neurol; 2009 Jan; 65(1):114-8. PubMed ID: 19194886 [TBL] [Abstract][Full Text] [Related]
16. Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene. Sartori S; Burlina AB; Salviati L; Trevisson E; Toldo I; Laverda AM; Burlina AP Eur J Paediatr Neurol; 2008 Jul; 12(4):348-50. PubMed ID: 17881259 [TBL] [Abstract][Full Text] [Related]
17. Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient. Kusk MS; Damgaard B; Risom L; Hansen B; Ostergaard E Neuropediatrics; 2016 Oct; 47(5):332-5. PubMed ID: 27405012 [TBL] [Abstract][Full Text] [Related]
18. Corrigendum to "Risk factors for developing mineral bone disease in phenylketonuric patients" [Mol. Genet. Metab. 108 (2013) 149-154]. Mirás A; Dolores Bóveda M; Leis MR; Mera A; Aldámiz-Echevarría L; Fernández-Lorenzo JR; Fraga JM; Couce ML Mol Genet Metab; 2015 Mar; 114(3):483. PubMed ID: 25877473 [No Abstract] [Full Text] [Related]
19. Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84]. Senanayake DN; Jasinge EA; Pindolia K; Wanigasinghe J; Monaghan K; Suchy SF; Wei S; Jaysena S; Wolf B Mol Genet Metab Rep; 2017 Jun; 11():95. PubMed ID: 28653700 [TBL] [Abstract][Full Text] [Related]
20. Corrigendum to "A glimpse into past, present, and future DNA sequencing" [Mol. Genet. Metab. 110 (2013) 3-24]. Morey M; Fernández-Marmiesse A; Castiñeiras D; Fraga JM; Couce ML; Cocho JA Mol Genet Metab; 2015 Mar; 114(3):484. PubMed ID: 25877474 [No Abstract] [Full Text] [Related] [Next] [New Search]