164 related articles for article (PubMed ID: 28609135)
21. A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification.
Gagliardi M; Morelli M; Annesi G; Nicoletti G; Perrotta P; Pustorino G; Iannello G; Tarantino P; Gambardella A; Quattrone A
Gene; 2015 Aug; 568(1):109-11. PubMed ID: 25958344
[TBL] [Abstract][Full Text] [Related]
22. Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.
Pasanen P; Mäkinen J; Myllykangas L; Guerreiro R; Bras J; Valori M; Viitanen M; Baumann M; Tienari PJ; Pöyhönen M; Baumann P
Acta Neurol Scand; 2017 Jul; 136(1):59-63. PubMed ID: 27726124
[TBL] [Abstract][Full Text] [Related]
23. Primary familial brain calcification: update on molecular genetics.
Taglia I; Bonifati V; Mignarri A; Dotti MT; Federico A
Neurol Sci; 2015 May; 36(5):787-94. PubMed ID: 25686613
[TBL] [Abstract][Full Text] [Related]
24. Primary familial brain calcifications.
Quintáns B; Oliveira J; Sobrido MJ
Handb Clin Neurol; 2018; 147():307-317. PubMed ID: 29325620
[TBL] [Abstract][Full Text] [Related]
25. Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.
Grütz K; Volpato CB; Domingo A; Alvarez-Fischer D; Gebert U; Schifferle G; Buffone E; Wszolek ZK; Rademakers R; Ferbert A; Hicks AA; Klein C; Pramstaller PP; Westenberger A
Mov Disord; 2016 Dec; 31(12):1901-1904. PubMed ID: 27671522
[TBL] [Abstract][Full Text] [Related]
26. Phosphate Transporters Expression in Patients with Primary Familial Brain Calcifications.
Pimentel LF; Lemos RR; Oliveira JR
J Mol Neurosci; 2017 Aug; 62(3-4):276-280. PubMed ID: 28578517
[TBL] [Abstract][Full Text] [Related]
27. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Nicolas G; Pottier C; Charbonnier C; Guyant-Maréchal L; Le Ber I; Pariente J; Labauge P; Ayrignac X; Defebvre L; Maltête D; Martinaud O; Lefaucheur R; Guillin O; Wallon D; Chaumette B; Rondepierre P; Derache N; Fromager G; Schaeffer S; Krystkowiak P; Verny C; Jurici S; Sauvée M; Vérin M; Lebouvier T; Rouaud O; Thauvin-Robinet C; Rousseau S; Rovelet-Lecrux A; Frebourg T; Campion D; Hannequin D;
Brain; 2013 Nov; 136(Pt 11):3395-407. PubMed ID: 24065723
[TBL] [Abstract][Full Text] [Related]
28. A novel SLC20A2 gene mutation causing primary familial brain calcification in an Ukrainian patient.
Oliva M; Capaldo G; D'Amico A; Colavito D; Elefante A; Straccia G; Ugga L; Puoti G
Neurol Sci; 2019 Jun; 40(6):1283-1285. PubMed ID: 30607525
[No Abstract] [Full Text] [Related]
29. Teaching NeuroImage: Primary Familial Brain Calcification in
McKenna MC; Redmond J; Bradley D; Bede P
Neurology; 2022 Nov; 99(22):1008-1009. PubMed ID: 36127139
[No Abstract] [Full Text] [Related]
30. SLC20A2-Associated Idiopathic basal ganglia calcification (Fahr disease): a case family report.
Li M; Fu Q; Xiang L; Zheng Y; Ping W; Cao Y
BMC Neurol; 2022 Nov; 22(1):438. PubMed ID: 36397039
[TBL] [Abstract][Full Text] [Related]
31. Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.
Giorgio E; Garelli E; Carando A; Bellora S; Rubino E; Quarello P; Sirchia F; Marrama F; Gallone S; Grosso E; Pasini B; Massa R; Brussino A; Brusco A
J Hum Genet; 2019 Nov; 64(11):1083-1090. PubMed ID: 31501477
[TBL] [Abstract][Full Text] [Related]
32. Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant.
Konno T; Blackburn PR; Rozen TD; van Gerpen JA; Ross OA; Atwal PS; Wszolek ZK
Neurol Neurochir Pol; 2018; 52(3):386-389. PubMed ID: 29680161
[TBL] [Abstract][Full Text] [Related]
33. A Novel
Ding Y; Dong HQ
Chin Med J (Engl); 2018 Apr; 131(7):799-803. PubMed ID: 29578123
[TBL] [Abstract][Full Text] [Related]
34. Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia.
Brighina L; Saracchi E; Ferri F; Gagliardi M; Tarantino P; Morzenti S; Musarra M; Patassini M; Annesi G; Ferrarese C
Neurodegener Dis; 2014; 14(3):133-8. PubMed ID: 25348593
[TBL] [Abstract][Full Text] [Related]
35. Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification.
Liu X; Ma G; Zhao Z; Mao F; Tang J; Li X; Zhu M
J Neurol Sci; 2016 Jan; 360():1-3. PubMed ID: 26723961
[No Abstract] [Full Text] [Related]
36. Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
Magistrelli L; Croce R; De Marchi F; Basagni C; Carecchio M; Nasuelli N; Cantello R; Invernizzi F; Garavaglia B; Comi C; Mazzini L; D'Alfonso S; Corrado L
Neurogenetics; 2021 Mar; 22(1):65-70. PubMed ID: 33471268
[TBL] [Abstract][Full Text] [Related]
37. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Hsu SC; Sears RL; Lemos RR; Quintáns B; Huang A; Spiteri E; Nevarez L; Mamah C; Zatz M; Pierce KD; Fullerton JM; Adair JC; Berner JE; Bower M; Brodaty H; Carmona O; Dobricić V; Fogel BL; García-Estevez D; Goldman J; Goudreau JL; Hopfer S; Janković M; Jaumà S; Jen JC; Kirdlarp S; Klepper J; Kostić V; Lang AE; Linglart A; Maisenbacher MK; Manyam BV; Mazzoni P; Miedzybrodzka Z; Mitarnun W; Mitchell PB; Mueller J; Novaković I; Paucar M; Paulson H; Simpson SA; Svenningsson P; Tuite P; Vitek J; Wetchaphanphesat S; Williams C; Yang M; Schofield PR; de Oliveira JR; Sobrido MJ; Geschwind DH; Coppola G
Neurogenetics; 2013 Feb; 14(1):11-22. PubMed ID: 23334463
[TBL] [Abstract][Full Text] [Related]
38. Novel likely pathogenic
Sharma R; Stitt D
BMJ Case Rep; 2022 Mar; 15(3):. PubMed ID: 35236675
[TBL] [Abstract][Full Text] [Related]
39. Novel findings in a Swedish primary familial brain calcification cohort.
Sennfält S; Gustavsson P; Malmgren H; Gilland E; Almqvist H; Oscarson M; Engvall M; Björkhem I; Nilsson D; Lagerstedt-Robinson K; Svenningsson P; Paucar M
J Neurol Sci; 2024 May; 460():123020. PubMed ID: 38642488
[TBL] [Abstract][Full Text] [Related]
40. Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation.
Kimura T; Miura T; Aoki K; Saito S; Hondo H; Konno T; Uchiyama A; Ikeuchi T; Takahashi H; Kakita A
Neuropathology; 2016 Aug; 36(4):365-71. PubMed ID: 26635128
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
