Genetic counseling in a Swedish Alzheimer family with amyloid precursor protein mutation

Reduction of brain stem pathology and transient amelioration of early cognitive symptoms in transgenic mice treated with a monoclonal antibody against α-synuclein oligomers/protofibrils.

Aging brain·2023

Cognitive function in very old men does not correlate to biomarkers of Alzheimer's disease.

BMC geriatrics·2017

Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus.

Leukemia·2015

Amyloid-ß-directed immunotherapy for Alzheimer's disease.

Journal of internal medicine·2014

Re-evaluation of clinical dementia diagnoses with pittsburgh compound B positron emission tomography.

Dementia and geriatric cognitive disorders extra·2014

Transfer of omega-3 fatty acids across the blood-brain barrier after dietary supplementation with a docosahexaenoic acid-rich omega-3 fatty acid preparation in patients with Alzheimer's disease: the OmegAD study.

Journal of internal medicine·2014

Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders.

American journal of human genetics·2026

Effect heterogeneity reveals complex pleiotropic effects of rare coding variants.

American journal of human genetics·2026

Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

American journal of human genetics·2026

Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists.

American journal of human genetics·2026

Robust cis-by-trans epistasis in the human plasma proteome highlights an ABO-centered interaction network.

American journal of human genetics·2026

International experiences of genomic newborn screening: Lessons from over 10,800 newborns.

American journal of human genetics·2026

Caregiver's perspectives toward genome sequencing in children with neurodevelopmental disorders: Integrating genomic information into pediatric care.

Current problems in pediatric and adolescent health care·2026

Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene: a case report.

Frontiers in pediatrics·2026

Pediatric Spinal Cord Astrocytoma With Granular Cell-Like Morphology and KIAA1549::BRAF Fusion.

Neuropathology : official journal of the Japanese Society of Neuropathology·2026

KCTD1 p.Gly62Asp Variant in Scalp-Ear-Nipple Syndrome: Phenotypic and Structural Insights.

The Journal of craniofacial surgery·2026

Selective vulnerability and resilience of thalamic neuronal populations in Frontotemporal Dementia.

Research square·2026

Schizophrenia-associated polygenic liability and structural genomic risk demonstrate broadly distributed neuropsychiatric associations in the All of Us Research Program.

medRxiv : the preprint server for health sciences·2026

Related Experiment Videos

Genetic counseling in a Swedish Alzheimer family with amyloid precursor protein mutation

Related Concept Videos

Reduction of brain stem pathology and transient amelioration of early cognitive symptoms in transgenic mice treated with a monoclonal antibody against α-synuclein oligomers/protofibrils.

Cognitive function in very old men does not correlate to biomarkers of Alzheimer's disease.

Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus.

Amyloid-ß-directed immunotherapy for Alzheimer's disease.

Re-evaluation of clinical dementia diagnoses with pittsburgh compound B positron emission tomography.

Transfer of omega-3 fatty acids across the blood-brain barrier after dietary supplementation with a docosahexaenoic acid-rich omega-3 fatty acid preparation in patients with Alzheimer's disease: the OmegAD study.

Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders.

Effect heterogeneity reveals complex pleiotropic effects of rare coding variants.

Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists.

Robust cis-by-trans epistasis in the human plasma proteome highlights an ABO-centered interaction network.

International experiences of genomic newborn screening: Lessons from over 10,800 newborns.

Caregiver's perspectives toward genome sequencing in children with neurodevelopmental disorders: Integrating genomic information into pediatric care.

Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene: a case report.

Pediatric Spinal Cord Astrocytoma With Granular Cell-Like Morphology and KIAA1549::BRAF Fusion.

KCTD1 p.Gly62Asp Variant in Scalp-Ear-Nipple Syndrome: Phenotypic and Structural Insights.

Selective vulnerability and resilience of thalamic neuronal populations in Frontotemporal Dementia.

Schizophrenia-associated polygenic liability and structural genomic risk demonstrate broadly distributed neuropsychiatric associations in the All of Us Research Program.

Related Experiment Videos

Genetic counseling in a Swedish Alzheimer family with amyloid precursor protein mutation

Related Concept Videos

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