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A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS

EMBO molecular medicine, 2018-06, Vol.10 (6), p.n/a

2018

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Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion

Acta neuropathologica communications, 2022-03, Vol.10 (1), p.43-43, Article 43

2022

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Improved Alzheimer's Disease versus Frontotemporal Lobar Degeneration Differential Diagnosis Combining EEG and Neurochemical Biomarkers: A Pilot Study

Journal of Alzheimer's disease, 2022-01, Vol.90 (4), p.1739

2022

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Serum Daytime Melatonin Levels Reflect Cerebrospinal Fluid Melatonin Levels in Alzheimer's Disease but Are Not Correlated with Cognitive Decline

Journal of Alzheimer's disease, 2021-01, Vol.83 (2), p.693

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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Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis

Neurobiology of disease, 2021-08, Vol.156, p.105421, Article 105421

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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Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration

Alzheimer's research & therapy, 2018-03, Vol.10 (1), p.31-31, Article 31

2018

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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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Major affective disorders and schizophrenia: a common molecular signature?

Human mutation, 2006-09, Vol.27 (9), p.833-853

2006

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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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Amyloid precursor protein mutation E682K at the alternative β‐secretase cleavage β′‐site increases Aβ generation

EMBO molecular medicine, 2011-05, Vol.3 (5), p.291-302

2011

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Promoter Mutations That Increase Amyloid Precursor-Protein Expression Are Associated with Alzheimer Disease

American journal of human genetics, 2006-06, Vol.78 (6), p.936-946

2006

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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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Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease

Acta neuropathologica communications, 2021-02, Vol.9 (1), p.25-15, Article 25

2021

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Alzheimer-associated C allele of the promoter polymorphism −22C>T causes a critical neuron-specific decrease of presenilin 1 expression

Human molecular genetics, 2003-04, Vol.12 (8), p.869-877

2003

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CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

Human molecular genetics, 2008-01, Vol.17 (2), p.313-322

2008

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EEG Dominant Frequency Peak Differentiates Between Alzheimer's Disease and Frontotemporal Lobar Degeneration

Journal of Alzheimer's disease, 2017-01, Vol.55 (1), p.53

2017

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Subclinical epileptiform activity in the Alzheimer continuum: association with disease, cognition and detection method

Alzheimer's research & therapy, 2024-01, Vol.16 (1), p.19-19, Article 19

2024

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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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α-Synuclein promoter confers susceptibility to Parkinson's disease

Annals of neurology, 2004-10, Vol.56 (4), p.591-595

2004

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A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS

Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion

Improved Alzheimer's Disease versus Frontotemporal Lobar Degeneration Differential Diagnosis Combining EEG and Neurochemical Biomarkers: A Pilot Study

Serum Daytime Melatonin Levels Reflect Cerebrospinal Fluid Melatonin Levels in Alzheimer's Disease but Are Not Correlated with Cognitive Decline

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

Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis

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

Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration

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

Major affective disorders and schizophrenia: a common molecular signature?

Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

Amyloid precursor protein mutation E682K at the alternative β‐secretase cleavage β′‐site increases Aβ generation

Promoter Mutations That Increase Amyloid Precursor-Protein Expression Are Associated with Alzheimer Disease

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

Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease

Alzheimer-associated C allele of the promoter polymorphism −22C>T causes a critical neuron-specific decrease of presenilin 1 expression

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

EEG Dominant Frequency Peak Differentiates Between Alzheimer's Disease and Frontotemporal Lobar Degeneration

Subclinical epileptiform activity in the Alzheimer continuum: association with disease, cognition and detection method

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

α-Synuclein promoter confers susceptibility to Parkinson's disease

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