Primary familial brain calcification (English Wikipedia)

Benke T; Karner E; Seppi K; Delazer M; Marksteiner J; Donnemiller E (August 2004). "Subacute dementia and imaging correlates in a case of Fahr's disease". J. Neurol. Neurosurg. Psychiatry. 75 (8): 1163–5. doi:10.1136/jnnp.2003.019547. PMC 1739167. PMID 15258221.
Chiu HF; Lam LC; Shum PP; Li KW (January 1993). "Idiopathic calcification of the basal ganglia". Postgrad Med J. 69 (807): 68–70. doi:10.1136/pgmj.69.807.68. PMC 2399589. PMID 8446558.
Geschwind DH, Loginov M, Stern JM (September 1999). "Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease)". Am. J. Hum. Genet. 65 (3): 764–72. doi:10.1086/302558. PMC 1377984. PMID 10441584.
Dai X, Gao Y, Xu Z, et al. (October 2010). "Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification". Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (7): 1305–10. doi:10.1002/ajmg.b.31102. PMID 20552677. S2CID 21165897.
Volpato CB, De Grandi A, Buffone E, et al. (November 2009). "2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family". J. Mol. Neurosci. 39 (3): 346–53. doi:10.1007/s12031-009-9287-3. PMID 19757205. S2CID 23235853.
Oliveira JR, Spiteri E, Sobrido MJ, et al. (December 2004). "Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)". Neurology. 63 (11): 2165–7. doi:10.1212/01.wnl.0000145601.88274.88. PMID 15596772. S2CID 22046680.
Wang C, Li Y, Shi L, et al. (March 2012). "Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis". Nat. Genet. 44 (3): 254–6. doi:10.1038/ng.1077. hdl:20.500.11940/4882. PMID 22327515. S2CID 2515200.
Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervåg, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan (2024-03-13). "Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications". Nature Communications. 15 (1): 2269. Bibcode:2024NatCo..15.2269C. doi:10.1038/s41467-024-46354-0. ISSN 2041-1723. PMC 10937998. PMID 38480682.
Aksnes, Henriette; Ree, Rasmus; Arnesen, Thomas (2019). "Co-translational, Post-translational, and Non-catalytic Roles of N-Terminal Acetyltransferases". Molecular Cell. 73 (6): 1097–1114. doi:10.1016/j.molcel.2019.02.007. PMC 6962057. PMID 30878283.
Aksnes, Henriette; Van Damme, Petra; Goris, Marianne; Starheim, Kristian K.; Marie, Michaël; Støve, Svein Isungset; Hoel, Camilla; Kalvik, Thomas Vikestad; Hole, Kristine; Glomnes, Nina; Furnes, Clemens; Ljostveit, Sonja; Ziegler, Mathias; Niere, Marc; Gevaert, Kris (2015). "An Organellar Nα-Acetyltransferase, Naa60, Acetylates Cytosolic N Termini of Transmembrane Proteins and Maintain Golgi Integrity". Cell Reports. 10 (8): 1362–1374. doi:10.1016/j.celrep.2015.01.053. hdl:1956/10959. PMID 25732826.
Støve, Svein Isungset; Magin, Robert S.; Foyn, Håvard; Haug, Bengt Erik; Marmorstein, Ronen; Arnesen, Thomas (2016). "Crystal Structure of the Golgi-Associated Human Nα-Acetyltransferase 60 Reveals the Molecular Determinants for Substrate-Specific Acetylation". Structure. 24 (7): 1044–1056. doi:10.1016/j.str.2016.04.020. PMC 4938767. PMID 27320834.
Van Damme, Petra; Evjenth, Rune; Foyn, Håvard; Demeyer, Kimberly; De Bock, Pieter-Jan; Lillehaug, Johan R.; Vandekerckhove, Joël; Arnesen, Thomas; Gevaert, Kris (2011). "Proteome-derived Peptide Libraries Allow Detailed Analysis of the Substrate Specificities of Nα-acetyltransferases and Point to hNaa10p as the Post-translational Actin Nα-acetyltransferase". Molecular & Cellular Proteomics. 10 (5) M110.004580. doi:10.1074/mcp.M110.004580. PMC 3098586. PMID 21383206.
Bonazza S, La Morgia C, Martinelli P, Capellari S (August 2011). "Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients". Neurol. Sci. 32 (4): 537–45. doi:10.1007/s10072-011-0514-7. PMID 21479613. S2CID 11316462.
Morita M, Tsuge I, Matsuoka H, et al. (May 1998). "Calcification in the basal ganglia with chronic active Epstein-Barr virus infection". Neurology. 50 (5): 1485–8. doi:10.1212/wnl.50.5.1485. PMID 9596016. S2CID 7376355.
Hozumi I, Kohmura A, Kimura A, et al. (2010). "High Levels of Copper, Zinc, Iron and Magnesium, but not Calcium, in the Cerebrospinal Fluid of Patients with Fahr's Disease". Case Rep Neurol. 2 (2): 46–51. doi:10.1159/000313920. PMC 2905580. PMID 20671856.
Niwa A, Naito Y, Kuzuhara S (2008). "Severe cerebral calcification in a case of LEOPARD syndrome". Intern. Med. 47 (21): 1925–9. doi:10.2169/internalmedicine.47.1365. PMID 18981639.
Preusser M, Kitzwoegerer M, Budka H, Brugger S (October 2007). "Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism". Neuropathology. 27 (5): 453–6. doi:10.1111/j.1440-1789.2007.00790.x. PMID 18018479. S2CID 34345069.
Saito Y, Shibuya M, Hayashi M, et al. (July 2005). "Cerebellopontine calcification: a new entity of idiopathic intracranial calcification?". Acta Neuropathol. 110 (1): 77–83. doi:10.1007/s00401-005-1011-y. PMID 15959794. S2CID 2726661. Archived from the original on 2013-02-12.
Munir KM (February 1986). "The treatment of psychotic symptoms in Fahr's disease with lithium carbonate". J Clin Psychopharmacol. 6 (1): 36–8. doi:10.1097/00004714-198602000-00008. PMID 3081601.
Loeb JA (March 1998). "Functional improvement in a patient with cerebral calcinosis using a bisphosphonate". Mov. Disord. 13 (2): 345–9. doi:10.1002/mds.870130225. PMID 9539353. S2CID 29240690.
Kobari M; Nogawa S; Sugimoto Y; Fukuuchi Y (March 1997). "Familial idiopathic brain calcification with autosomal dominant inheritance". Neurology. 48 (3): 645–9. doi:10.1212/wnl.48.3.645. PMID 9065541. S2CID 1061208.

elsevier.com (Global: 610^th place; English: 704^th place)

linkinghub.elsevier.com

Aksnes, Henriette; Van Damme, Petra; Goris, Marianne; Starheim, Kristian K.; Marie, Michaël; Støve, Svein Isungset; Hoel, Camilla; Kalvik, Thomas Vikestad; Hole, Kristine; Glomnes, Nina; Furnes, Clemens; Ljostveit, Sonja; Ziegler, Mathias; Niere, Marc; Gevaert, Kris (2015). "An Organellar Nα-Acetyltransferase, Naa60, Acetylates Cytosolic N Termini of Transmembrane Proteins and Maintain Golgi Integrity". Cell Reports. 10 (8): 1362–1374. doi:10.1016/j.celrep.2015.01.053. hdl:1956/10959. PMID 25732826.

escholarship.org (Global: 1,523^rd place; English: 976^th place)

Oliveira JR, Spiteri E, Sobrido MJ, et al. (December 2004). "Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)". Neurology. 63 (11): 2165–7. doi:10.1212/01.wnl.0000145601.88274.88. PMID 15596772. S2CID 22046680.

handle.net (Global: 102^nd place; English: 76^th place)

hdl.handle.net

Wang C, Li Y, Shi L, et al. (March 2012). "Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis". Nat. Genet. 44 (3): 254–6. doi:10.1038/ng.1077. hdl:20.500.11940/4882. PMID 22327515. S2CID 2515200.
Aksnes, Henriette; Van Damme, Petra; Goris, Marianne; Starheim, Kristian K.; Marie, Michaël; Støve, Svein Isungset; Hoel, Camilla; Kalvik, Thomas Vikestad; Hole, Kristine; Glomnes, Nina; Furnes, Clemens; Ljostveit, Sonja; Ziegler, Mathias; Niere, Marc; Gevaert, Kris (2015). "An Organellar Nα-Acetyltransferase, Naa60, Acetylates Cytosolic N Termini of Transmembrane Proteins and Maintain Golgi Integrity". Cell Reports. 10 (8): 1362–1374. doi:10.1016/j.celrep.2015.01.053. hdl:1956/10959. PMID 25732826.

harvard.edu (Global: 18^th place; English: 17^th place)

ui.adsabs.harvard.edu

Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervåg, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan (2024-03-13). "Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications". Nature Communications. 15 (1): 2269. Bibcode:2024NatCo..15.2269C. doi:10.1038/s41467-024-46354-0. ISSN 2041-1723. PMC 10937998. PMID 38480682.

nih.gov (Global: 4^th place; English: 4^th place)

pubmed.ncbi.nlm.nih.gov

Eliana Marisa Ramos; Joao Oliveira; Maria J Sobrido; Giovanni Coppola (1993). "Primary Familial Brain Calcification". GeneReviews, at National Center for Biotechnology Information. University of Washington, Seattle. PMID 20301594. Initial Posting: April 18, 2004; Last Update: August 24, 2017.
Benke T; Karner E; Seppi K; Delazer M; Marksteiner J; Donnemiller E (August 2004). "Subacute dementia and imaging correlates in a case of Fahr's disease". J. Neurol. Neurosurg. Psychiatry. 75 (8): 1163–5. doi:10.1136/jnnp.2003.019547. PMC 1739167. PMID 15258221.
Chiu HF; Lam LC; Shum PP; Li KW (January 1993). "Idiopathic calcification of the basal ganglia". Postgrad Med J. 69 (807): 68–70. doi:10.1136/pgmj.69.807.68. PMC 2399589. PMID 8446558.
Geschwind DH, Loginov M, Stern JM (September 1999). "Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease)". Am. J. Hum. Genet. 65 (3): 764–72. doi:10.1086/302558. PMC 1377984. PMID 10441584.
Dai X, Gao Y, Xu Z, et al. (October 2010). "Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification". Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (7): 1305–10. doi:10.1002/ajmg.b.31102. PMID 20552677. S2CID 21165897.
Volpato CB, De Grandi A, Buffone E, et al. (November 2009). "2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family". J. Mol. Neurosci. 39 (3): 346–53. doi:10.1007/s12031-009-9287-3. PMID 19757205. S2CID 23235853.
Oliveira JR, Spiteri E, Sobrido MJ, et al. (December 2004). "Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)". Neurology. 63 (11): 2165–7. doi:10.1212/01.wnl.0000145601.88274.88. PMID 15596772. S2CID 22046680.
Wang C, Li Y, Shi L, et al. (March 2012). "Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis". Nat. Genet. 44 (3): 254–6. doi:10.1038/ng.1077. hdl:20.500.11940/4882. PMID 22327515. S2CID 2515200.
Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervåg, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan (2024-03-13). "Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications". Nature Communications. 15 (1): 2269. Bibcode:2024NatCo..15.2269C. doi:10.1038/s41467-024-46354-0. ISSN 2041-1723. PMC 10937998. PMID 38480682.
Aksnes, Henriette; Ree, Rasmus; Arnesen, Thomas (2019). "Co-translational, Post-translational, and Non-catalytic Roles of N-Terminal Acetyltransferases". Molecular Cell. 73 (6): 1097–1114. doi:10.1016/j.molcel.2019.02.007. PMC 6962057. PMID 30878283.
Aksnes, Henriette; Van Damme, Petra; Goris, Marianne; Starheim, Kristian K.; Marie, Michaël; Støve, Svein Isungset; Hoel, Camilla; Kalvik, Thomas Vikestad; Hole, Kristine; Glomnes, Nina; Furnes, Clemens; Ljostveit, Sonja; Ziegler, Mathias; Niere, Marc; Gevaert, Kris (2015). "An Organellar Nα-Acetyltransferase, Naa60, Acetylates Cytosolic N Termini of Transmembrane Proteins and Maintain Golgi Integrity". Cell Reports. 10 (8): 1362–1374. doi:10.1016/j.celrep.2015.01.053. hdl:1956/10959. PMID 25732826.
Støve, Svein Isungset; Magin, Robert S.; Foyn, Håvard; Haug, Bengt Erik; Marmorstein, Ronen; Arnesen, Thomas (2016). "Crystal Structure of the Golgi-Associated Human Nα-Acetyltransferase 60 Reveals the Molecular Determinants for Substrate-Specific Acetylation". Structure. 24 (7): 1044–1056. doi:10.1016/j.str.2016.04.020. PMC 4938767. PMID 27320834.
Van Damme, Petra; Evjenth, Rune; Foyn, Håvard; Demeyer, Kimberly; De Bock, Pieter-Jan; Lillehaug, Johan R.; Vandekerckhove, Joël; Arnesen, Thomas; Gevaert, Kris (2011). "Proteome-derived Peptide Libraries Allow Detailed Analysis of the Substrate Specificities of Nα-acetyltransferases and Point to hNaa10p as the Post-translational Actin Nα-acetyltransferase". Molecular & Cellular Proteomics. 10 (5) M110.004580. doi:10.1074/mcp.M110.004580. PMC 3098586. PMID 21383206.
Bonazza S, La Morgia C, Martinelli P, Capellari S (August 2011). "Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients". Neurol. Sci. 32 (4): 537–45. doi:10.1007/s10072-011-0514-7. PMID 21479613. S2CID 11316462.
Morita M, Tsuge I, Matsuoka H, et al. (May 1998). "Calcification in the basal ganglia with chronic active Epstein-Barr virus infection". Neurology. 50 (5): 1485–8. doi:10.1212/wnl.50.5.1485. PMID 9596016. S2CID 7376355.
Hozumi I, Kohmura A, Kimura A, et al. (2010). "High Levels of Copper, Zinc, Iron and Magnesium, but not Calcium, in the Cerebrospinal Fluid of Patients with Fahr's Disease". Case Rep Neurol. 2 (2): 46–51. doi:10.1159/000313920. PMC 2905580. PMID 20671856.
Niwa A, Naito Y, Kuzuhara S (2008). "Severe cerebral calcification in a case of LEOPARD syndrome". Intern. Med. 47 (21): 1925–9. doi:10.2169/internalmedicine.47.1365. PMID 18981639.
Preusser M, Kitzwoegerer M, Budka H, Brugger S (October 2007). "Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism". Neuropathology. 27 (5): 453–6. doi:10.1111/j.1440-1789.2007.00790.x. PMID 18018479. S2CID 34345069.
Saito Y, Shibuya M, Hayashi M, et al. (July 2005). "Cerebellopontine calcification: a new entity of idiopathic intracranial calcification?". Acta Neuropathol. 110 (1): 77–83. doi:10.1007/s00401-005-1011-y. PMID 15959794. S2CID 2726661. Archived from the original on 2013-02-12.
Tojyo K, Hattori T, Sekijima Y, Yoshida K, Ikeda S (June 2001). "[A case of idiopathic brain calcification associated with dyschromatosis symmetrica hereditaria, aplasia of dental root, and aortic valve sclerosis]". Rinsho Shinkeigaku (in Japanese). 41 (6): 299–305. PMID 11771159.
Munir KM (February 1986). "The treatment of psychotic symptoms in Fahr's disease with lithium carbonate". J Clin Psychopharmacol. 6 (1): 36–8. doi:10.1097/00004714-198602000-00008. PMID 3081601.
Loeb JA (March 1998). "Functional improvement in a patient with cerebral calcinosis using a bisphosphonate". Mov. Disord. 13 (2): 345–9. doi:10.1002/mds.870130225. PMID 9539353. S2CID 29240690.
Kobari M; Nogawa S; Sugimoto Y; Fukuuchi Y (March 1997). "Familial idiopathic brain calcification with autosomal dominant inheritance". Neurology. 48 (3): 645–9. doi:10.1212/wnl.48.3.645. PMID 9065541. S2CID 1061208.

ncbi.nlm.nih.gov

Eliana Marisa Ramos; Joao Oliveira; Maria J Sobrido; Giovanni Coppola (1993). "Primary Familial Brain Calcification". GeneReviews, at National Center for Biotechnology Information. University of Washington, Seattle. PMID 20301594. Initial Posting: April 18, 2004; Last Update: August 24, 2017.
Benke T; Karner E; Seppi K; Delazer M; Marksteiner J; Donnemiller E (August 2004). "Subacute dementia and imaging correlates in a case of Fahr's disease". J. Neurol. Neurosurg. Psychiatry. 75 (8): 1163–5. doi:10.1136/jnnp.2003.019547. PMC 1739167. PMID 15258221.
Sobrido MJ, Hopfer S, Geschwind DH (2007) "Familial idiopathic basal ganglia calcification." In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. SourceGeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2004
Chiu HF; Lam LC; Shum PP; Li KW (January 1993). "Idiopathic calcification of the basal ganglia". Postgrad Med J. 69 (807): 68–70. doi:10.1136/pgmj.69.807.68. PMC 2399589. PMID 8446558.
Geschwind DH, Loginov M, Stern JM (September 1999). "Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease)". Am. J. Hum. Genet. 65 (3): 764–72. doi:10.1086/302558. PMC 1377984. PMID 10441584.
Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervåg, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan (2024-03-13). "Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications". Nature Communications. 15 (1): 2269. Bibcode:2024NatCo..15.2269C. doi:10.1038/s41467-024-46354-0. ISSN 2041-1723. PMC 10937998. PMID 38480682.
Aksnes, Henriette; Ree, Rasmus; Arnesen, Thomas (2019). "Co-translational, Post-translational, and Non-catalytic Roles of N-Terminal Acetyltransferases". Molecular Cell. 73 (6): 1097–1114. doi:10.1016/j.molcel.2019.02.007. PMC 6962057. PMID 30878283.
Støve, Svein Isungset; Magin, Robert S.; Foyn, Håvard; Haug, Bengt Erik; Marmorstein, Ronen; Arnesen, Thomas (2016). "Crystal Structure of the Golgi-Associated Human Nα-Acetyltransferase 60 Reveals the Molecular Determinants for Substrate-Specific Acetylation". Structure. 24 (7): 1044–1056. doi:10.1016/j.str.2016.04.020. PMC 4938767. PMID 27320834.
Van Damme, Petra; Evjenth, Rune; Foyn, Håvard; Demeyer, Kimberly; De Bock, Pieter-Jan; Lillehaug, Johan R.; Vandekerckhove, Joël; Arnesen, Thomas; Gevaert, Kris (2011). "Proteome-derived Peptide Libraries Allow Detailed Analysis of the Substrate Specificities of Nα-acetyltransferases and Point to hNaa10p as the Post-translational Actin Nα-acetyltransferase". Molecular & Cellular Proteomics. 10 (5) M110.004580. doi:10.1074/mcp.M110.004580. PMC 3098586. PMID 21383206.
Hozumi I, Kohmura A, Kimura A, et al. (2010). "High Levels of Copper, Zinc, Iron and Magnesium, but not Calcium, in the Cerebrospinal Fluid of Patients with Fahr's Disease". Case Rep Neurol. 2 (2): 46–51. doi:10.1159/000313920. PMC 2905580. PMID 20671856.

rarediseases.info.nih.gov

"Genetic and Rare Diseases Information Center (GARD) – an NCATS Program | Providing information about rare or genetic diseases". Archived from the original on 2009-05-11. Retrieved 2009-06-13.
"Chavany-Brunhes syndrome". Archived from the original on 2012-05-31. Retrieved 2009-06-13.

ninds.nih.gov

"NINDS Fahr's Syndrome Information Page". National Institute of Neurological Disorders and Stroke. Archived from the original on 5 February 2007. Retrieved 13 January 2007.
"NINDS Fahr's Syndrome Information Page". National Institute of Neurological Disorders and Stroke. Archived from the original on 5 February 2007. Retrieved 13 February 2007.

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Dai X, Gao Y, Xu Z, et al. (October 2010). "Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification". Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (7): 1305–10. doi:10.1002/ajmg.b.31102. PMID 20552677. S2CID 21165897.
Volpato CB, De Grandi A, Buffone E, et al. (November 2009). "2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family". J. Mol. Neurosci. 39 (3): 346–53. doi:10.1007/s12031-009-9287-3. PMID 19757205. S2CID 23235853.
Oliveira JR, Spiteri E, Sobrido MJ, et al. (December 2004). "Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)". Neurology. 63 (11): 2165–7. doi:10.1212/01.wnl.0000145601.88274.88. PMID 15596772. S2CID 22046680.
Wang C, Li Y, Shi L, et al. (March 2012). "Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis". Nat. Genet. 44 (3): 254–6. doi:10.1038/ng.1077. hdl:20.500.11940/4882. PMID 22327515. S2CID 2515200.
Bonazza S, La Morgia C, Martinelli P, Capellari S (August 2011). "Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients". Neurol. Sci. 32 (4): 537–45. doi:10.1007/s10072-011-0514-7. PMID 21479613. S2CID 11316462.
Morita M, Tsuge I, Matsuoka H, et al. (May 1998). "Calcification in the basal ganglia with chronic active Epstein-Barr virus infection". Neurology. 50 (5): 1485–8. doi:10.1212/wnl.50.5.1485. PMID 9596016. S2CID 7376355.
Preusser M, Kitzwoegerer M, Budka H, Brugger S (October 2007). "Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism". Neuropathology. 27 (5): 453–6. doi:10.1111/j.1440-1789.2007.00790.x. PMID 18018479. S2CID 34345069.
Saito Y, Shibuya M, Hayashi M, et al. (July 2005). "Cerebellopontine calcification: a new entity of idiopathic intracranial calcification?". Acta Neuropathol. 110 (1): 77–83. doi:10.1007/s00401-005-1011-y. PMID 15959794. S2CID 2726661. Archived from the original on 2013-02-12.
Loeb JA (March 1998). "Functional improvement in a patient with cerebral calcinosis using a bisphosphonate". Mov. Disord. 13 (2): 345–9. doi:10.1002/mds.870130225. PMID 9539353. S2CID 29240690.
Kobari M; Nogawa S; Sugimoto Y; Fukuuchi Y (March 1997). "Familial idiopathic brain calcification with autosomal dominant inheritance". Neurology. 48 (3): 645–9. doi:10.1212/wnl.48.3.645. PMID 9065541. S2CID 1061208.

springer.de (Global: low place; English: low place)

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Saito Y, Shibuya M, Hayashi M, et al. (July 2005). "Cerebellopontine calcification: a new entity of idiopathic intracranial calcification?". Acta Neuropathol. 110 (1): 77–83. doi:10.1007/s00401-005-1011-y. PMID 15959794. S2CID 2726661. Archived from the original on 2013-02-12.

web.archive.org (Global: 1^st place; English: 1^st place)

"Genetic and Rare Diseases Information Center (GARD) – an NCATS Program | Providing information about rare or genetic diseases". Archived from the original on 2009-05-11. Retrieved 2009-06-13.
"NINDS Fahr's Syndrome Information Page". National Institute of Neurological Disorders and Stroke. Archived from the original on 5 February 2007. Retrieved 13 January 2007.
"NINDS Fahr's Syndrome Information Page". National Institute of Neurological Disorders and Stroke. Archived from the original on 5 February 2007. Retrieved 13 February 2007.
"Chavany-Brunhes syndrome". Archived from the original on 2012-05-31. Retrieved 2009-06-13.

whonamedit.com (Global: 2,888^th place; English: 2,730^th place)

Fahr's disease at Whonamedit?
Chavany-Brunhes syndrome at Whonamedit?

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Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervåg, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan (2024-03-13). "Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications". Nature Communications. 15 (1): 2269. Bibcode:2024NatCo..15.2269C. doi:10.1038/s41467-024-46354-0. ISSN 2041-1723. PMC 10937998. PMID 38480682.

Primary familial brain calcification (English Wikipedia)

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