159 related articles for article (PubMed ID: 38474113)
1. NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.
Della Vecchia S; Tessa A; Pasquariello R; Seabra L; Crow YJ; Battini R
Int J Mol Sci; 2024 Mar; 25(5):. PubMed ID: 38474113
[No Abstract] [Full Text] [Related]
2. RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant.
Kameli R; Amanat M; Rezaei Z; Hosseionpour S; Nikbakht S; Alizadeh H; Ashrafi MR; Omrani A; Garshasbi M; Tavasoli AR
Orphanet J Rare Dis; 2019 Jul; 14(1):184. PubMed ID: 31349848
[TBL] [Abstract][Full Text] [Related]
3. Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.
Tonduti D; Orcesi S; Jenkinson EM; Dorboz I; Renaldo F; Panteghini C; Rice GI; Henneke M; Livingston JH; Elmaleh M; Burglen L; Willemsen MA; Chiapparini L; Garavaglia B; Rodriguez D; Boespflug-Tanguy O; Moroni I; Crow YJ
Eur J Paediatr Neurol; 2016 Jul; 20(4):604-10. PubMed ID: 27091087
[TBL] [Abstract][Full Text] [Related]
4. [Clinical features and diagnosis of childhood leukoencephalopathy with cerebral calcifications and cysts in four cases].
Jin H; Wu HS; Ding CH; Jin Z; Huang Y; Zhou CJ; Zhang WH; Lyu JL; Dai LF; Ren XT; Ge M; Fang F
Zhonghua Er Ke Za Zhi; 2018 Jul; 56(7):539-544. PubMed ID: 29996189
[No Abstract] [Full Text] [Related]
5. Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Helman G; Zarekiani P; Tromp SAM; Andrews A; Botto LD; Bonkowsky JL; Chassevent A; Giorgio E; Pippucci T; Wei S; Smith-Hicks C; Vaula G; Willemsen MAAP; Schimmel M; Vollert K; Shimizu F; Kanda T; Lynch M; Roscioli T; Taft RJ; Simons C; Bugiani M; Kuijpers TW; van der Knaap MS
Ann Neurol; 2022 Nov; 92(5):895-901. PubMed ID: 35947102
[TBL] [Abstract][Full Text] [Related]
6. Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review.
Osman O; Labrune P; Reiner P; Sarov M; Nasser G; Riant F; Tournier-Lasserve E; Chabriat H; Denier C
Rev Neurol (Paris); 2020 Mar; 176(3):170-179. PubMed ID: 31521395
[TBL] [Abstract][Full Text] [Related]
7. Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene.
Bonomo G; Monfrini E; Borellini L; Bonomo R; Arienti F; Saetti MC; Di Fonzo A; Locatelli M
Eur J Neurol; 2020 Nov; 27(11):2329-2332. PubMed ID: 32400930
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease.
Paff M; Samuel N; Alsafwani N; Paul D; Diamandis P; Climans SA; Kucharczyk W; Ding MYR; Gao AF; Lozano AM
BMC Neurol; 2022 Jan; 22(1):10. PubMed ID: 34986804
[TBL] [Abstract][Full Text] [Related]
10. AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.
Tang Y; Qin Q; Xing Y; Guo D; Di L; Jia J
Mol Genet Genomic Med; 2019 Apr; 7(4):e00582. PubMed ID: 30706699
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis.
Galli J; Gavazzi F; De Simone M; Giliani S; Garau J; Valente M; Vairo D; Cattalini M; Mortilla M; Andreoli L; Badolato R; Bianchi M; Carabellese N; Cereda C; Ferraro R; Facchetti F; Fredi M; Gualdi G; Lorenzi L; Meini A; Orcesi S; Tincani A; Zanola A; Rice G; Fazzi E;
Medicine (Baltimore); 2018 Dec; 97(52):e13893. PubMed ID: 30593198
[TBL] [Abstract][Full Text] [Related]
13. Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.
Crider K; Williams J; Qi YP; Gutman J; Yeung L; Mai C; Finkelstain J; Mehta S; Pons-Duran C; Menéndez C; Moraleda C; Rogers L; Daniels K; Green P
Cochrane Database Syst Rev; 2022 Feb; 2(2022):. PubMed ID: 36321557
[TBL] [Abstract][Full Text] [Related]
14. Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).
La Piana R; Uggetti C; Olivieri I; Tonduti D; Balottin U; Fazzi E; Orcesi S
Am J Med Genet A; 2014 Mar; 164A(3):815-9. PubMed ID: 24376015
[TBL] [Abstract][Full Text] [Related]
15. RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Ulrick N; Goldstein A; Simons C; Taft RJ; Helman G; Pizzino A; Bloom M; Vogt J; Pysden K; Diodato D; Martinelli D; Monavari A; Buhas D; van Karnebeek CD; Dorboz I; Boespflug-Tanguy O; Rodriguez D; Tétreault M; Majewski J; Bernard G; Ng YS; ; McFarland R; Vanderver A
Pediatr Neurol; 2017 Jan; 66():59-62. PubMed ID: 27843092
[TBL] [Abstract][Full Text] [Related]
16. Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.
Bisserbe A; Tertian G; Buffet C; Turhan A; Lambotte O; Nasser G; Alvin P; Tardieu M; Riant F; Bergametti F; Tournier-Lasserve E; Denier C
Rev Neurol (Paris); 2015 May; 171(5):445-9. PubMed ID: 25843205
[TBL] [Abstract][Full Text] [Related]
17. Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications.
Tonduti D; Izzo G; D'Arrigo S; Riva D; Moroni I; Zorzi G; Cavallera V; Pichiecchio A; Uggetti C; Veggiotti P; Orcesi S; Chiapparini L; Parazzini C
Mol Genet Metab; 2019 Apr; 126(4):489-494. PubMed ID: 30826161
[TBL] [Abstract][Full Text] [Related]
18. Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome.
La Piana R; Tran LT; Guerrero K; Brais B; Levesque S; Sébire G; Riou E; Bernard G
Neuropediatrics; 2014 Dec; 45(6):406-10. PubMed ID: 25343331
[TBL] [Abstract][Full Text] [Related]
19. KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
Ardissone A; Tonduti D; Legati A; Lamantea E; Barone R; Dorboz I; Boespflug-Tanguy O; Nebbia G; Maggioni M; Garavaglia B; Moroni I; Farina L; Pichiecchio A; Orcesi S; Chiapparini L; Ghezzi D
Orphanet J Rare Dis; 2018 Apr; 13(1):45. PubMed ID: 29615062
[TBL] [Abstract][Full Text] [Related]
20. Leukoencephalopathy with calcifications and cysts: A case report with literature review.
Li J; Li C; Zhang Q; Qiu C
Neurol Sci; 2023 Aug; 44(8):2715-2729. PubMed ID: 37004603
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]