Alzheimer’s Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing

Presenilin-1 Mutations in Alzheimer's Disease: An Update on Genotype-Phenotype Relationships

(2018) A.J. Larner   JOURNAL OF ALZHEIMERS DISEASE

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

(2017) Julie van der Zee et al.   HUMAN MUTATION

TREM2 in Neurodegenerative Diseases

(2017) Taylor R. Jay et al.   Molecular Neurodegeneration

What we know about TMEM106B in neurodegeneration

(2016) Alexandra M. Nicholson et al.   ACTA NEUROPATHOLOGICA

Molecular genetics of early-onset Alzheimer's disease revisited

(2016) Rita Cacace et al.   Alzheimers & Dementia

The Prevalence and Incidence of Frontotemporal Dementia: a Systematic Review

(2016) David B. Hogan et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Genetics of Frontotemporal Dementia

(2016) Diana A. Olszewska et al.   Current Neurology and Neuroscience Reports

Copy Number Variants in Alzheimer’s Disease

(2016) Denis Cuccaro et al.   JOURNAL OF ALZHEIMERS DISEASE

Apolipoprotein E: from cardiovascular disease to neurodegenerative disorders

(2016) Robert W. Mahley   JOURNAL OF MOLECULAR MEDICINE-JMM

Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies

(2016) Ian R. A. Mackenzie et al.   JOURNAL OF NEUROCHEMISTRY

Genetics of FTLD: overview and what else we can expect from genetic studies

(2016) Cyril Pottier et al.   JOURNAL OF NEUROCHEMISTRY

Genomics of Alzheimer's disease: Value of high-throughput genomic technologies to dissect its etiology

(2016) Giuseppe Tosto et al.   MOLECULAR AND CELLULAR PROBES

Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

(2016) Tobi Van den Bossche et al.   NEUROLOGY

Molecular Genetics of Neurodegenerative Dementias

(2016) Flora I. Hinz et al.   Cold Spring Harbor Perspectives in Biology

Patterns of regional cerebellar atrophy in genetic frontotemporal dementia

(2016) Martina Bocchetta et al.   NeuroImage-Clinical

Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration

(2015) EunRan Suh et al.   ACTA NEUROPATHOLOGICA

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci

(2015) Badri N. Vardarajan et al.   ANNALS OF NEUROLOGY

Psychotic Symptoms in Frontotemporal Dementia

(2015) Devin Hall et al.   Current Neurology and Neuroscience Reports

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Association of progranulin polymorphism rs5848 with neurodegenerative diseases: a meta-analysis

(2015) Yongdui Chen et al.   JOURNAL OF NEUROLOGY

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

(2015) Jonathan D Rohrer et al.   LANCET NEUROLOGY

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

(2015) I Gijselinck et al.   MOLECULAR PSYCHIATRY

Early-onset Alzheimer’s disease versus frontotemporal dementia: resolution with genetic diagnoses?

(2015) Sharon J. Sha et al.   NEUROCASE

Loss ofTBK1is a frequent cause of frontotemporal dementia in a Belgian cohort

(2015) Ilse Gijselinck et al.   NEUROLOGY

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

(2015) Catherine Labbé et al.   NEUROLOGY

Clinicopathological description of two cases withSQSTM1gene mutation associated with frontotemporal dementia

(2015) Gabor G. Kovacs et al.   NEUROPATHOLOGY

Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia

(2015) Alberto Benussi et al.   Frontiers in Aging Neuroscience

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

(2014) Johnathan Cooper-Knock et al.   ACTA NEUROPATHOLOGICA

Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine

(2014) David J. Irwin et al.   ACTA NEUROPATHOLOGICA

The Patterns of Inheritance in Early-Onset Dementia

(2014) Anna I. Jarmolowicz et al.   American Journal of Alzheimers Disease and Other Dementias

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysis

(2014) D. C. Ryman et al.   NEUROLOGY

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

(2013) Jon Beck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E ϵ4, and the Risk of Late-Onset Alzheimer Disease in African Americans

(2013) Christiane Reitz et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

TDP-43 frontotemporal lobar degeneration and autoimmune disease

(2013) Z. A. Miller et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A new algorithm for molecular diagnostics in FTLD

(2013) Barbara Borroni et al.   Nature Reviews Neurology

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

(2013) M. van Blitterswijk et al.   NEUROLOGY

C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration

(2013) E. Gomez-Tortosa et al.   NEUROLOGY

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

(2013) Marc Cruts et al.   TRENDS IN NEUROSCIENCES

Development and Validation of Pedigree Classification Criteria for Frontotemporal Lobar Degeneration

(2013) Elisabeth M. Wood et al.   JAMA Neurology

The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practice

(2012) Vivianna M. Van Deerlin   ACTA NEUROPATHOLOGICA

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

(2012) Katherine R. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

(2012) Giovanni Coppola et al.   HUMAN MOLECULAR GENETICS

Locus-specific mutation databases for neurodegenerative brain diseases

(2012) Marc Cruts et al.   HUMAN MUTATION

Ubiquilin 2mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia

(2012) Cinzia Gellera et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Neural correlates of high frequency repetitive transcranial magnetic stimulation improvement in post-stroke non-fluent aphasia: A case study

(2012) Els Dammekens et al.   NEUROCASE

TREM2 Variants in Alzheimer's Disease

(2012) Rita Guerreiro et al.   NEW ENGLAND JOURNAL OF MEDICINE

Autosomal Recessive Causes Likely in Early-Onset Alzheimer Disease

(2011) Thomas S. Wingo   ARCHIVES OF NEUROLOGY

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

(2011) Katya Rascovsky et al.   BRAIN

Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors

(2011) Jill S Goldman et al.   GENETICS IN MEDICINE

Making Connections: Pathology and Genetics Link Amyotrophic Lateral Sclerosis with Frontotemporal Lobe Dementia

(2011) Faisal Fecto et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Classification of primary progressive aphasia and its variants

(2011) M. L. Gorno-Tempini et al.   NEUROLOGY

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

(2010) Vivianna M Van Deerlin et al.   NATURE GENETICS

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS