Clinico-genetic findings in 509 frontotemporal dementia patients

Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia

(2021) Jessica L Panman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases

(2020) J. Nicholas Cochran et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

The Role of Age-Related Clonal Hematopoiesis in Genetic Sequencing Studies

(2020) Henne Holstege et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TREM2 Variants and Neurodegenerative Diseases: A Systematic Review and Meta-Analysis

(2019) Sheng-Lan Zhou et al.   JOURNAL OF ALZHEIMERS DISEASE

Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism

(2019) Julia K Götzl et al.   EMBO Molecular Medicine

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

(2019) Katrina M Moore et al.   LANCET NEUROLOGY

Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

(2019) Emma L van der Ende et al.   LANCET NEUROLOGY

Downregulation of exosomal miR-204-5p and miR-632 as a biomarker for FTD: a GENFI study

(2018) Raphael Schneider et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

(2018) Yalda Baradaran-Heravi et al.   NEUROBIOLOGY OF AGING

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study

(2018) Daniela Galimberti et al.   NEUROBIOLOGY OF AGING

Clinical value of neurofilament and phospho-tau/tau ratio in the frontotemporal dementia spectrum

(2018) Lieke H.H. Meeter et al.   NEUROLOGY

Review: Neuropathology of non-tau frontotemporal lobar degeneration

(2018) M. Neumann et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Association of Mutations Contributing to Clonal Hematopoiesis With Prognosis in Chronic Ischemic Heart Failure

(2018) Lena Dorsheimer et al.   JAMA Cardiology

Rare TBK1 variants in patients with frontotemporal dementia and amyotrophic lateral sclerosis in a Chinese cohort

(2018) Bin Jiao et al.   Translational Neurodegeneration

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

(2017) Cornelis Blauwendraat et al.   GENETICS IN MEDICINE

Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum

(2017) Ai-Ling Ji et al.   JOURNAL OF MEDICAL GENETICS

Sex differences in the prevalence of genetic mutations in FTD and ALS

(2017) Ashley F. Curtis et al.   NEUROLOGY

Neurofilament as a blood marker for diagnosis and monitoring of primary progressive aphasias

(2017) Petra Steinacker et al.   NEUROLOGY

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

(2017) Ian R. Mackenzie et al.   NEURON

Reconsidering the causality of TIA1 mutations in ALS

(2017) Rick A. van der Spek et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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

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

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation

(2016) Jose Bras et al.   NEUROBIOLOGY OF AGING

Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia

(2016) Jonathan D. Rohrer et al.   NEUROLOGY

Diagnostic and prognostic significance of neurofilament light chain NF-L, but not progranulin and S100B, in the course of amyotrophic lateral sclerosis: Data from the German MND-net

(2016) Petra Steinacker et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

(2016) Lieke H. Meeter et al.   Annals of Clinical and Translational Neurology

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

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

Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study

(2015) Elise Cuyvers et al.   LANCET NEUROLOGY

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

(2015) Stacy Steinberg et al.   NATURE GENETICS

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

C9orf72andUNC13Aare shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis

(2014) Frank P. Diekstra et al.   ANNALS OF NEUROLOGY

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions inC9orf72reveals marked differences in results among 14 laboratories

(2014) Chizuru Akimoto et al.   JOURNAL OF MEDICAL GENETICS

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

(2013) K. R. Smith et al.   HUMAN MOLECULAR GENETICS

Stress granules as crucibles of ALS pathogenesis

(2013) Yun R. Li et al.   JOURNAL OF CELL BIOLOGY

Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy

(2013) Chia-Chen Liu et al.   Nature Reviews Neurology

Motor Neuron dysfunction in frontotemporal dementia

(2011) James R. Burrell et al.   BRAIN

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

(2011) Katya Rascovsky et al.   BRAIN

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

(2011) Paul Hollingworth et al.   NATURE GENETICS

Classification of primary progressive aphasia and its variants

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

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

(2009) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Development of methodology for conducting clinical trials in frontotemporal lobar degeneration

(2008) D. S. Knopman et al.   BRAIN

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration

(2008) R. Ghidoni et al.   NEUROLOGY