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UnknownSpreading depolarization triggers pro- and anti-inflammatory signalling: a potential link to headache.
Not available
S-EPMC12378585 | biostudies-literature
GenomicsCerebellar ataxia cases - samples
Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) samples
EGAD00010000130 | EGA
GenomicsIdentification of genetic etiology of CAMRQ2
We aimed to identify genetic etiology of cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ). Targeted sequencing of the entire CAMRQ2 locus, 7.1 Mb interval on chromosome 17p13, in three affected individuals and two obligate carriers uncovered the mutation associated with CAM...
EGAS00000000099 | EGA
GenomicsBilMBG Data Access Committee
Data Access Committee EGAC01000000008
EGAC01000000008 | EGA
GenomicsIntegrated genomic characterization of IDH1 mutant Glioma malignant progression
Gliomas represent approximately 30% of all central nervous system tumors, and 80% of malignant brain tumors. To understand the molecular mechanisms underlying the malignant progression of low-grade Isocitrate Dehydrogenase 1 (IDH1) mutant gliomas, we studied paired tumor samples from 41 patients, co...
EGAS00001001588 | EGA
UnknownExploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants
Not available
S-EPMC12324730 | biostudies-literature
GenomicsDNA_methylation
DNA methylation microarray
EGAD00010000870 | EGA
Genomicsena-DATASET-Yale-19-01-2016-18:21:27:507-133 - samples
Exome sequencing VCF files describing mutations during glioma progression.
EGAD00001001887 | EGA
GenomicsRna_expression
RNA expression microarray
EGAD00010000869 | EGA
GenomicsYale
Data Access Committee EGAC00001000406
EGAC00001000406 | EGA
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