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9. 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]
10. A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay. Ikemoto S; Hamano SI; Kikuchi K; Koichihara R; Hirata Y; Matsuura R; Hiraide T; Nakashima M; Inoue K; Kurosawa K; Saitsu H Brain Dev; 2020 Sep; 42(8):603-606. PubMed ID: 32595021 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review. Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686 [TBL] [Abstract][Full Text] [Related]
13. Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD). Llaci L; Ramsey K; Belnap N; Claasen AM; Balak CD; Szelinger S; Jepsen WM; Siniard AL; Richholt R; Izat T; Naymik M; De Both M; Piras IS; Craig DW; Huentelman MJ; Narayanan V; Schrauwen I; Rangasamy S Hum Genet; 2019 Dec; 138(11-12):1409-1417. PubMed ID: 31748968 [TBL] [Abstract][Full Text] [Related]
14. [Clinical and genetic analysis of a family with Pelizaeus-Merzbacher disease]. Wang HF; Wu Y; Jiang YW; Wang JM; Tang MK; Zhang YH; Qin J; Lin Q; Wu XR Zhonghua Er Ke Za Zhi; 2007 Dec; 45(12):912-6. PubMed ID: 18339279 [TBL] [Abstract][Full Text] [Related]
15. Pelizaeus-Merzbacher disease, easily misdiagnosed as cerebral palsy: a report of a three-generation family. Chen YC; Liang WC; Su YN; Jong YJ Pediatr Neonatol; 2014 Apr; 55(2):150-3. PubMed ID: 23597542 [TBL] [Abstract][Full Text] [Related]
16. A Rare Case of Hypomyelinating Leukodystrophy and Its Management: A Case Report and Literature Review. Singh S; Mishra A; Murthy C; Inban P; Abdefatah Ali M; Yadav AS; Intsiful TA; O Omar ZT; Lakhra S; Khan DA Cureus; 2023 Mar; 15(3):e36471. PubMed ID: 37090362 [TBL] [Abstract][Full Text] [Related]
17. Novel Heterozygous Missense Variant in GRIA4 Gene Associated With Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities. Wang H; Liu J; Li F; Teng Z; Liu M; Gu W Front Genet; 2022; 13():859140. PubMed ID: 35518358 [No Abstract] [Full Text] [Related]
18. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Bugiani M; Al Shahwan S; Lamantea E; Bizzi A; Bakhsh E; Moroni I; Balestrini MR; Uziel G; Zeviani M Neurology; 2006 Jul; 67(2):273-9. PubMed ID: 16707726 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. Nafisinia M; Sobreira N; Riley L; Gold W; Uhlenberg B; Weiß C; Boehm C; Prelog K; Ouvrier R; Christodoulou J Eur J Hum Genet; 2017 Oct; 25(10):1134-1141. PubMed ID: 28905880 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]