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Genetic insights in Alzheimer's disease

Lancet neurology, 2013, Vol.12 (1), p.92-104

2013

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The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease

Molecular neurodegeneration, 2022-04, Vol.17 (1), p.31-31, Article 31

2022

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Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects

Human genomics, 2009-01, Vol.3 (2), p.169-190

2009

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The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications

Frontiers in neuroscience, 2019-08, Vol.13, p.757-757

2019

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Hippocampal Sclerosis in Frontotemporal Dementia: When Vascular Pathology Meets Neurodegeneration

Journal of neuropathology and experimental neurology, 2021-04, Vol.80 (4), p.313-324

2021

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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Nature genetics, 2001-07, Vol.28 (3), p.211-212

2001

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Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene

International journal of molecular sciences, 2021-12, Vol.22 (24), p.13633

2021

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Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

Orphanet journal of rare diseases, 2019-08, Vol.14 (1), p.197-197, Article 197

2019

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Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations

Molecular neurodegeneration, 2015-07, Vol.10 (1), p.30-30, Article 30

2015

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Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Nature genetics, 2004-06, Vol.36 (6), p.597-601

2004

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IPSC-Derived Neuronal Cultures Carrying the Alzheimer's Disease Associated TREM2 R47H Variant Enables the Construction of an Aβ-Induced Gene Regulatory Network

International journal of molecular sciences, 2020-06, Vol.21 (12), p.4516

2020

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Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

Neurology, 2016-06, Vol.86 (23), p.2126

2016

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Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism

Neurobiology of aging, 2015-02, Vol.36 (2), p.1121-1129

2015

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Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity

Frontiers in neurology, 2020-11, Vol.11, p.596108-596108

2020

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Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology

Biomolecules (Basel, Switzerland), 2022-03, Vol.12 (3), p.440

2022

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Progress in unraveling the genetic etiology of Parkinson disease in a genomic era

Trends in genetics, 2015-03, Vol.31 (3), p.140-149

2015

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Glucocorticoid Receptor Gene-Based SNP Analysis in Patients with Recurrent Major Depression

Neuropsychopharmacology (New York, N.Y.), 2006-03, Vol.31 (3), p.620-627

2006

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Amyloid Precursor Protein A713T Mutation in Calabrian Patients with Alzheimer's Disease: A Population Genomics Approach to Estimate Inheritance from a Common Ancestor

Biomedicines, 2021-12, Vol.10 (1), p.20

2021

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Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Nature genetics, 2005-10, Vol.37 (10), p.1044-1046

2005

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Longer leukocyte telomere length is associated with smaller hippocampal volume among non-demented APOE ε3/ε3 subjects

PloS one, 2012-04, Vol.7 (4), p.e34292-e34292

2012

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Presenilins and Alzheimer disease

Nature genetics, 1995-11, Vol.11 (3), p.230-232

Broeckhoven, Christine Van

1995

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Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk

Molecular neurodegeneration, 2012-01, Vol.7 (1), p.3-3, Article 3

2012

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Lymphoblast-derived integration-free ISRM-CON9 iPS cell line from a 75 year old female

Stem cell research, 2018-01, Vol.26, p.76-79

2018

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Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant

Stem cell research, 2018-07, Vol.30, p.141-144

2018

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Lymphoblast-derived integration-free iPSC line AD-TREM2-1 from a 67 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant

Stem cell research, 2018-05, Vol.29, p.60-63

2018

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Genetic insights in Alzheimer's disease

The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease

Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects

The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications

Hippocampal Sclerosis in Frontotemporal Dementia: When Vascular Pathology Meets Neurodegeneration

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene

Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

IPSC-Derived Neuronal Cultures Carrying the Alzheimer's Disease Associated TREM2 R47H Variant Enables the Construction of an Aβ-Induced Gene Regulatory Network

Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism

Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity

Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology

Progress in unraveling the genetic etiology of Parkinson disease in a genomic era

Glucocorticoid Receptor Gene-Based SNP Analysis in Patients with Recurrent Major Depression

Amyloid Precursor Protein A713T Mutation in Calabrian Patients with Alzheimer's Disease: A Population Genomics Approach to Estimate Inheritance from a Common Ancestor

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Longer leukocyte telomere length is associated with smaller hippocampal volume among non-demented APOE ε3/ε3 subjects

Presenilins and Alzheimer disease

Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk

Lymphoblast-derived integration-free ISRM-CON9 iPS cell line from a 75 year old female

Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant

Lymphoblast-derived integration-free iPSC line AD-TREM2-1 from a 67 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant

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