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2. Inherited white matter disorders: Hypomyelination (myelin disorders). Perrier S; Gauquelin L; Bernard G Handb Clin Neurol; 2024; 204():197-223. PubMed ID: 39322379 [TBL] [Abstract][Full Text] [Related]
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7. 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]
8. PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations. Bonnet-Dupeyron MN; Combes P; Santander P; Cailloux F; Boespflug-Tanguy O; Vaurs-Barrière C Hum Mutat; 2008 Aug; 29(8):1028-36. PubMed ID: 18470932 [TBL] [Abstract][Full Text] [Related]
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12. Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease. Elpidorou M; Poulter JA; Szymanska K; Baron W; Junger K; Boldt K; Ueffing M; Green L; Livingston JH; Sheridan EG; Johnson CA Eur J Hum Genet; 2022 Jul; 30(7):860-864. PubMed ID: 35217805 [TBL] [Abstract][Full Text] [Related]
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