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8. 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]
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13. A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease. Salviati L; Trevisson E; Baldoin MC; Toldo I; Sartori S; Calderone M; Tenconi R; Laverda A Neurogenetics; 2007 Jan; 8(1):57-60. PubMed ID: 17031678 [TBL] [Abstract][Full Text] [Related]
14. TUBB4A de novo mutations cause isolated hypomyelination. Pizzino A; Pierson TM; Guo Y; Helman G; Fortini S; Guerrero K; Saitta S; Murphy JL; Padiath Q; Xie Y; Hakonarson H; Xu X; Funari T; Fox M; Taft RJ; van der Knaap MS; Bernard G; Schiffmann R; Simons C; Vanderver A Neurology; 2014 Sep; 83(10):898-902. PubMed ID: 25085639 [TBL] [Abstract][Full Text] [Related]
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20. 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] [Next] [New Search]