A triplet repeat polymorphism in a gene expressed in human hypothalamus

Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.

Clinical pharmacology and therapeutics·2015

Are APOE ɛ genotype and TOMM40 poly-T repeat length associations with cognitive ageing mediated by brain white matter tract integrity?

Translational psychiatry·2014

Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms.

Neuromuscular disorders : NMD·2013

Inhibition of α-ketoglutarate-and pyruvate dehydrogenase complexes in E. coli by a glutathione S-transferase containing a pathological length poly-Q domain: A possible role of energy deficit in neurological diseases associated with poly-Q expansions?

Age·2013

Using genetics to enable studies on the prevention of Alzheimer's disease.

Clinical pharmacology and therapeutics·2012

A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.

Molecular psychiatry·2012

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

Human molecular genetics·2026

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Human molecular genetics·2026

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Human molecular genetics·2026

NRAS mutation in a central conducting lymphatic anomaly and PPFIBP1::ROS1 fusion in a Gorham-stout disease patient.

Human molecular genetics·2026

Single-cell transcriptomic integrated with machine learning reveals human retinal cell-specific biomarkers in diabetic retinopathy.

Human molecular genetics·2026

Neurodevelopmental alterations are key drivers of SPG56.

Human molecular genetics·2026

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort.

Epilepsia·2026

GBA1 variants and mortality in Parkinson's disease: A systematic review and meta-analysis.

Journal of Parkinson's disease·2026

[Associations of candidate gene polymorphisms, gut microbiota, and their interactions with NAFLD in obese children].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences·2026

Variation in Neurodegeneration-Linked Brain Regions in Young Adult APOE E4 Carriers With Spina Bifida.

Annals of the Child Neurology Society·2026

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex.

Annals of the Child Neurology Society·2026

Hemimegalencephaly and intractable focal seizures related to NPRL3 mutation with variable familial expressivity treated with anatomic hemispherectomy.

Annals of the Child Neurology Society·2026

Related Experiment Videos

A triplet repeat polymorphism in a gene expressed in human hypothalamus

Related Concept Videos

Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.

Are APOE ɛ genotype and TOMM40 poly-T repeat length associations with cognitive ageing mediated by brain white matter tract integrity?

Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms.

Inhibition of α-ketoglutarate-and pyruvate dehydrogenase complexes in E. coli by a glutathione S-transferase containing a pathological length poly-Q domain: A possible role of energy deficit in neurological diseases associated with poly-Q expansions?

Using genetics to enable studies on the prevention of Alzheimer's disease.

A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

NRAS mutation in a central conducting lymphatic anomaly and PPFIBP1::ROS1 fusion in a Gorham-stout disease patient.

Single-cell transcriptomic integrated with machine learning reveals human retinal cell-specific biomarkers in diabetic retinopathy.

Neurodevelopmental alterations are key drivers of SPG56.

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort.

GBA1 variants and mortality in Parkinson's disease: A systematic review and meta-analysis.

[Associations of candidate gene polymorphisms, gut microbiota, and their interactions with NAFLD in obese children].

Variation in Neurodegeneration-Linked Brain Regions in Young Adult APOE E4 Carriers With Spina Bifida.

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex.

Hemimegalencephaly and intractable focal seizures related to NPRL3 mutation with variable familial expressivity treated with anatomic hemispherectomy.

Related Experiment Videos

A triplet repeat polymorphism in a gene expressed in human hypothalamus

Related Concept Videos

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