XPR1 mutations are a rare cause of primary familial brain calcification-Reference-Cited by-同舟云学术

XPR1 mutations are a rare cause of primary familial brain calcification

Published:2016-05-26 Issue:8 Volume:263 Page:1559-1564
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Anheim Mathieu,López-Sánchez Uriel,Giovannini Donatella,Richard Anne-Claire,Touhami Jawida,N’Guyen Ludovic,Rudolf Gabrielle,Thibault-Stoll Anne,Frebourg Thierry,Hannequin Didier,Campion Dominique,Battini Jean-Luc,Sitbon Marc,Nicolas Gaël

Funder

Fondation pour la Recherche Médicale (FRM)

ANR Blanc

Ligue Nationale contre le Cancer (Comité de l’Hérault)

Agence Nationale de la Recherche JCJC

Labex EpiGenMed

Secretaría de Ciencia, Tecnología e Innovación de la Ciudad de México

Fondation ARC pour la Recherche sur le Cancer (FR)

Institut National du Cancer (INCa)

Labex GR-Ex

Inserm

CNR-MAJ

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-016-8166-4.pdf

Reference21 articles.

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2. Sobrido MJ, Hopfer S, Geschwind DH (1993–2004) Familial Idiopathic Basal Ganglia Calcification. In: Pagon RA, Bird TD, Dolan CR, et al (eds) GeneReviews™ [Internet] Seattle (WA): University of Washington, Seattle

3. Nicolas G, Charbonnier C, de Lemos RR, Richard AC, Guillin O, Wallon D, Legati A, Geschwind D, Coppola G, Frebourg T, Campion D, de Oliveira JR, Hannequin D (2015) Brain calcification process and phenotypes according to age and sex: lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. Am J Med Genet B Neuropsychiatr Genet 168(7):586–594

4. Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintans B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY (2012) Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 44(3):254–256

5. Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Marechal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frebourg T, Hannequin D, Campion D (2013) Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology 80(2):181–187

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