These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 related articles for article (PubMed ID: 35530931)

  • 1. Primary familial brain calcification in a patient with a novel compound heterozygous mutation in
    Yang Q; Li J; Jiao B; Weng L
    Ann Transl Med; 2022 Apr; 10(7):423. PubMed ID: 35530931
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; ; Frebourg T; Hannequin D; Campion D; Nicolas G
    Brain; 2019 Jun; 142(6):1573-1586. PubMed ID: 31009047
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The Genetics of Primary Familial Brain Calcification: A Literature Review.
    Chen SY; Ho CJ; Lu YT; Lin CH; Lan MY; Tsai MH
    Int J Mol Sci; 2023 Jun; 24(13):. PubMed ID: 37446066
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    Mol Genet Genomic Med; 2023 Dec; 11(12):e2276. PubMed ID: 37680026
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel
    Song T; Zhao Y; Wen G; Du J; Xu Q
    Front Neurol; 2023; 14():1110227. PubMed ID: 36816548
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation in
    Gao L; Chen J; Dong H; Li X
    Int J Neurosci; 2022 Dec; 132(12):1182-1186. PubMed ID: 33372568
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A case report of a patient with primary familial brain calcification with a
    Al Ali J; Yang J; Phillips MS; Fink J; Mastrianni J; Seibert K
    Front Neurol; 2023; 14():1235909. PubMed ID: 37780723
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl.
    Sun H; Cao Z; Gao R; Li Y; Chen R; Du S; Ma T; Wang J; Xu X; Liu JY
    Mol Genet Genomic Med; 2021 May; 9(5):e1670. PubMed ID: 33793087
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Report of a young patient with brain calcifications with a novel homozygous MYORG variant.
    Sadok SH; Borges-Medeiros RL; de Oliveira DF; Zatz M; de Oliveira JRM
    Gene; 2023 Apr; 859():147213. PubMed ID: 36690225
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.
    Hobara T; Higuchi Y; Yoshida M; Suehara M; Ando M; Yuan JH; Yoshimura A; Kojima F; Matsuura E; Okamoto Y; Mitsui J; Tsuji S; Takashima H
    Acta Neuropathol Commun; 2024 Aug; 12(1):136. PubMed ID: 39180105
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.
    Balck A; Schaake S; Kuhnke NS; Domingo A; Madoev H; Margolesky J; Dobricic V; Alvarez-Fischer D; Laabs BH; Kasten M; Luo W; Nicolas G; Marras C; Lohmann K; Klein C; Westenberger A
    Mov Disord; 2021 Nov; 36(11):2468-2480. PubMed ID: 34432325
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.
    Cen Z; Chen Y; Chen S; Wang H; Yang D; Zhang H; Wu H; Wang L; Tang S; Ye J; Shen J; Wang H; Fu F; Chen X; Xie F; Liu P; Xu X; Cao J; Cai P; Pan Q; Li J; Yang W; Shan PF; Li Y; Liu JY; Zhang B; Luo W
    Brain; 2020 Feb; 143(2):491-502. PubMed ID: 31851307
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation Analysis of
    Zeng YH; Lin BW; Su HZ; Guo XX; Li YL; Lai LL; Chen WJ; Zhao M; Yao XP
    Front Genet; 2021; 12():732389. PubMed ID: 34745211
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The clinical and genetic spectrum of primary familial brain calcification.
    Carecchio M; Mainardi M; Bonato G
    J Neurol; 2023 Jun; 270(6):3270-3277. PubMed ID: 36862146
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family.
    Huang YT; Zhang LH; Li MF; Cheng L; Zou GY; Zhou HH
    Brain Res Bull; 2019 Aug; 150():261-265. PubMed ID: 30634018
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients.
    Borges-Medeiros RL; de Oliveira JRM
    J Mol Neurosci; 2020 Jan; 70(1):142-144. PubMed ID: 31768941
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The first Japanese case of primary familial brain calcification caused by an MYORG variant.
    Kume K; Takata T; Morino H; Matsuda Y; Ohsawa R; Tada Y; Kurashige T; Kawakami H
    J Hum Genet; 2020 Oct; 65(10):917-920. PubMed ID: 32451491
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
    Schottlaender LV; Abeti R; Jaunmuktane Z; Macmillan C; Chelban V; O'Callaghan B; McKinley J; Maroofian R; Efthymiou S; Athanasiou-Fragkouli A; Forbes R; Soutar MPM; Livingston JH; Kalmar B; Swayne O; Hotton G; ; Pittman A; Mendes de Oliveira JR; de Grandis M; Richard-Loendt A; Launchbury F; Althonayan J; McDonnell G; Carr A; Khan S; Beetz C; Bisgin A; Tug Bozdogan S; Begtrup A; Torti E; Greensmith L; Giunti P; Morrison PJ; Brandner S; Aurrand-Lions M; Houlden H
    Am J Hum Genet; 2020 Mar; 106(3):412-421. PubMed ID: 32142645
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    Chelban V; Carecchio M; Rea G; Bowirrat A; Kirmani S; Magistrelli L; Efthymiou S; Schottlaender L; Vandrovcova J; Salpietro V; Salsano E; Pareyson D; Chiapparini L; Jan F; Ibrahim S; Khan F; Qarnain Z; Groppa S; Bajaj N; Balint B; Bhatia KP; Lees A; Morrison PJ; Wood NW; Garavaglia B; Houlden H
    Neurol Genet; 2020 Apr; 6(2):e399. PubMed ID: 32211515
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    Neuron; 2018 Jun; 98(6):1116-1123.e5. PubMed ID: 29910000
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.