Alzheimer diseases: a model of gene mutations and susceptibility polymorphisms for complex psychiatric diseases

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

Defects of blastogenesis.

American journal of medical genetics·2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002

Three cases of tetrasomy 9p.

American journal of medical genetics·2002

Do not stop at the variant: a reversible cause of small-fiber neuropathy symptoms in an ATTRv carrier.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2026

Combined effects of Ret coding and enhancer loss-of-function alleles cause progressive loss of inhibitory motor neurons in the enteric nervous system.

Genome research·2026

Mutation timing, accumulation, and selection in the male germline shape inheritance risk for developmental disorders.

Cell genomics·2026

Genetics of Educational Attainment and Childhood Problem Behavior: Direct Genetic Effects, Cognitive Pathways, and Sex Differences.

Behavior genetics·2026

Identification of Novel Co-Occurring ZNF711 and SRCAP Variants in a Child with Neurodevelopmental Disorders Through Exome Sequencing.

The application of clinical genetics·2026

Hox/Meis-dependent gene-regulatory transition underlies cardiopharyngeal neural crest diversification.

The EMBO journal·2026

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Alzheimer diseases: a model of gene mutations and susceptibility polymorphisms for complex psychiatric diseases

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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.

Defects of blastogenesis.

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

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Molecular etiology of gut malformations and diseases.

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

Three cases of tetrasomy 9p.

Do not stop at the variant: a reversible cause of small-fiber neuropathy symptoms in an ATTRv carrier.

Combined effects of Ret coding and enhancer loss-of-function alleles cause progressive loss of inhibitory motor neurons in the enteric nervous system.

Mutation timing, accumulation, and selection in the male germline shape inheritance risk for developmental disorders.

Genetics of Educational Attainment and Childhood Problem Behavior: Direct Genetic Effects, Cognitive Pathways, and Sex Differences.

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