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6. Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive Hydrocephalus. Shtaya A; Elmslie F; Crow Y; Hettige S World Neurosurg; 2019 May; 125():271-272. PubMed ID: 30794980 [TBL] [Abstract][Full Text] [Related]
7. Labrune Syndrome: A Very Rare Association of Leukoencephalopathy, Cerebral Calcifications, and Cysts. Joshi AR; Kulkarni K; Shah AU Indian J Radiol Imaging; 2021 Jul; 31(3):772-775. PubMed ID: 34790336 [TBL] [Abstract][Full Text] [Related]
8. Longitudinal clinical and neuro-radiological findings in a patient with leukoencephalopathy with brain calcifications and cysts (Labrune syndrome). Iwasaki Y; Hoshino KI; Mori K; Ito M; Kawai Y; Mimuro M; Tsukie T; Ikeuchi T; Yoshida M eNeurologicalSci; 2017 Sep; 8():28-30. PubMed ID: 29260032 [TBL] [Abstract][Full Text] [Related]
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11. A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic Kodama K; Aoyama H; Murakami Y; Takanashi JI; Koshimizu E; Miyatake S; Iwama K; Mizuguchi T; Matsumoto N; Omata T Radiol Case Rep; 2023 Mar; 18(3):1217-1220. PubMed ID: 36660574 [TBL] [Abstract][Full Text] [Related]
12. Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature. Picchi E; Ferrazzoli V; Pizzicannella G; Pucci N; Pitocchi F; Valente F; Minosse S; Izzi F; Schirinzi T; Bonomi C; Aiello C; Floris R; Garaci F; Di Giuliano F Neurol Sci; 2021 Nov; 42(11):4471-4487. PubMed ID: 34482485 [TBL] [Abstract][Full Text] [Related]
13. Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations. Taglia I; Di Donato I; De Stefano N; Bianchi S; Galluzzi P; Federico A; Dotti MT Eur J Neurol; 2018 Aug; 25(8):e86-e87. PubMed ID: 29984895 [No Abstract] [Full Text] [Related]
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15. A case of leukoencephalopathy, cerebral calcifications and cysts. Gulati A; Singh P; Ramanathan S; Khandelwal N Ann Indian Acad Neurol; 2011 Oct; 14(4):310-2. PubMed ID: 22346026 [TBL] [Abstract][Full Text] [Related]
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17. Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Iwama K; Mizuguchi T; Takanashi JI; Shibayama H; Shichiji M; Ito S; Oguni H; Yamamoto T; Sekine A; Nagamine S; Ikeda Y; Nishida H; Kumada S; Yoshida T; Awaya T; Tanaka R; Chikuchi R; Niwa H; Oka YI; Miyatake S; Nakashima M; Takata A; Miyake N; Ito S; Saitsu H; Matsumoto N Clin Genet; 2017 Aug; 92(2):180-187. PubMed ID: 28177126 [TBL] [Abstract][Full Text] [Related]
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20. Phenotypic Variability in Leukoencephalopathy with Brain Calcifications and Cysts: Case Report of Siblings from an Irish Traveller Family with a Homozygous SNORD118 Mutation. Cullinane PW; Lynch SA; Marnane M J Mol Neurosci; 2020 Sep; 70(9):1354-1356. PubMed ID: 32361877 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]