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UnknownChromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Not available
S-EPMC1377254 | biostudies-literature
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MetabolomicsMass Spectrometry-Based Metabolic Fingerprinting Contributes to Unveil the Role of RSUME in Renal Cell Carcinoma Cell Metabolism
Clear cell renal cell carcinoma (ccRCC) is a heterogeneous disease with 50-80% patients exhibiting mutations in the von Hippel-Lindau (VHL) gene. RSUME (RWD domain (termed after three major RWD-containing proteins: RING finger-containing proteins, WD-repeat-containing proteins, and yeast DEAD (DEXD)-...
2021-10-06 | MTBLS1935 | MetaboLights
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Genomics,MultiomicsFramingham Cohort
<p>Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause ...
...now known as the National Heart, Lung, and Blood Institute, NHLBI) -- embarked on a novel and ambitious project in health research. At the time, little was k...
phs000007.v17.p6 | EGA
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UnknownAn mHealth App for Self-Management of Chronic Lower Back Pain (Limbr): Pilot Study.
Not available
S-EPMC6231870 | biostudies-literature
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UnknownQuality of life predicts outcome of deep brain stimulation in early Parkinson disease.
Not available
S-EPMC6442017 | biostudies-literature
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UnknownGenotype-Phenotype Correlations in Children with HHT.
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S-EPMC7565052 | biostudies-literature
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UnknownCatatonia: demographic, clinical and laboratory associations.
Not available
S-EPMC10123832 | biostudies-literature
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UnknownAssociation of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.
Not available
S-EPMC3208320 | biostudies-literature
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UnknownPredictors of mortality in patients with hereditary hemorrhagic telangiectasia.
Not available
S-EPMC7789194 | biostudies-literature
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UnknownAssociation of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia.
Not available
S-EPMC6014448 | biostudies-literature
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