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2025
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A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.
Not available
S-EPMC6195752
|
biostudies-literature
Cite
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.
Not available
S-EPMC4817771
|
biostudies-literature
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Targeted serum metabolomic profiling and machine learning approach in Alzheimer's disease using the Alzheimer's disease diagnostics clinical study (ADDIA) cohort.
Not available
S-EPMC12614907
|
biostudies-literature
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Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes.
Not available
S-EPMC8415425
|
biostudies-literature
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How many patients are eligible for disease-modifying treatment in Alzheimer's disease? A French national observational study over 5 years.
Not available
S-EPMC6597622
|
biostudies-literature
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Faster decline of very prodromal dementia with Lewy bodies when amyloid positive.
Not available
S-EPMC12187975
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biostudies-literature
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Prodromal characteristics of dementia with Lewy bodies: baseline results of the MEMENTO memory clinics nationwide cohort.
Not available
S-EPMC9295361
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biostudies-literature
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Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.
Not available
S-EPMC6602064
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biostudies-literature
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Cognitive and imaging markers in non-demented subjects attending a memory clinic: study design and baseline findings of the MEMENTO cohort.
Not available
S-EPMC5576287
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biostudies-literature
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Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Not available
S-EPMC5557276
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biostudies-literature
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