| Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review. | Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.
Zhao T, Xu S, Liu S, Xu J, Zhang X, Zhan Y., Free PMC Article | 12/22/2023 |
| Paroxysmal Kinesigenic Dyskinesia Secondary to Brain Calcification with a Homozygous MYORG Mutation. | Paroxysmal Kinesigenic Dyskinesia Secondary to Brain Calcification with a Homozygous MYORG Mutation.
Du J, Zhu X, Liu J, Tan Y. | 03/19/2022 |
| MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes. | MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes.
Malaquias MJ, Martins RC, Oliveira J, Freixo JP, Magalhães M. | 08/21/2021 |
| MYORG Mutation Heterozygosity Is Associated With Brain Calcification. | MYORG Mutation Heterozygosity Is Associated With Brain Calcification.
Chen Y, Cen Z, Chen X, Wang H, Chen S, Yang D, Fu F, Wang L, Liu P, Wu H, Zheng X, Xie F, Ouyang Z, Zhang Y, Zhou Y, Huang X, Wang F, Huang G, An H, Liang Y, Hong W, Wang A, Huang S, Chen W, Yin L, Yang Y, Huang H, Zeng R, Zhao N, Jiang B, Zhang B, Luo W, Chinese PFBC Study Group. | 05/8/2021 |
| Primary familial brain calcification caused by MYORG mutations in an Italian family. | Primary familial brain calcification caused by MYORG mutations in an Italian family.
Taglia I, Kuipers DJS, Breedveld GJ, Mignarri A, Dotti MT, Federico A, Bonifati V. | 08/29/2020 |
| that MYORG is a novel major primary familial brain calcification causative gene and that the phenotype associated with such mutations may be recognized based on pedigree | Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
Grangeon L, Wallon D, Charbonnier C, Quenez O, Richard AC, Rousseau S, Budowski C, Lebouvier T, Corbille AG, Vidailhet M, Méneret A, Roze E, Anheim M, Tranchant C, Favrole P, Antoine JC, Defebvre L, Ayrignac X, Labauge P, Pariente J, Clanet M, Maltête D, Rovelet-Lecrux A, Boland A, Deleuze JF, French PFBC study group, Frebourg T, Hannequin D, Campion D, Nicolas G. | 03/14/2020 |
| MYORG mutations are linked to a recessive form of primary familial brain calcification. This association was recently described in patients of Chinese ancestry. Study suggests the possibility that MYORG mutations lead to calcification in a PDGFRbeta-related pathway. | MYORG is associated with recessive primary familial brain calcification.
Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, Minassian BA, Sadaka Y, Lerer I, Tabach Y, Meiner V., Free PMC Article | 02/29/2020 |
| analysis of a novel homozygous MYORG mutation in a consanguineous Italian family indicates that it may have a role in primary familial brain calcification as well as in brain calcifications of heterozygous carriers | Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.
Ramos EM, Roca A, Chumchim N, Dokuru DR, Van Berlo V, De Michele G, Lieto M, Tedeschi E, De Michele G, Coppola G. | 01/11/2020 |
| MYORG as a novel causative gene for primary familial brain calcification | Evaluation of MYORG mutations as a novel cause of primary familial brain calcification.
Chen Y, Fu F, Chen S, Cen Z, Tang H, Huang J, Xie F, Zheng X, Yang D, Wang H, Huang X, Zhang Y, Zhou Y, Liu JY, Luo W. | 01/4/2020 |
| A point mutation in MYORG is associated with primary familial brain calcification in a Turkish family. | A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
Forouhideh Y, Müller K, Ruf W, Assi M, Seker T, Tunca C, Knehr A, Strom TM, Gorges M, Schradt F, Meitinger T, Ludolph AC, Pinkhardt EH, Basak AN, Kassubek J, Uttner I, Weishaupt JH. | 09/21/2019 |
| Findings provide strong evidence that loss-of-function mutations of MYORG cause brain calcification in humans. Compound heterozygous or homozygous mutations of MYORG co-segregated completely with primary familial brain calcification in six families. | Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.
Yao XP, Cheng X, Wang C, Zhao M, Guo XX, Su HZ, Lai LL, Zou XH, Chen XJ, Zhao Y, Dong EL, Lu YQ, Wu S, Li X, Fan G, Yu H, Xu J, Wang N, Xiong ZQ, Chen WJ. | 08/10/2019 |
| Observational study of gene-disease association. (HuGE Navigator) | Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C, Maurage CA, Huot L, Bensemain F, Laumet G, Ayral AM, Fievet N, Hauw JJ, DeKosky ST, Lemoine Y, Iwatsubo T, Wavrant-Devrièze F, Dartigues JF, Tzourio C, Buée L, Pasquier F, Berr C, Mann D, Lendon C, Alpérovitch A, Kamboh MI, Amouyel P, Lambert JC., Free PMC Article | 03/25/2009 |