Identification of a Novel Hemizygous SQSTM1 Nonsense Mutation in Atypical Behavioral Variant Frontotemporal Dementia

A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation

(2018) Claire Boutoleau-Bretonnière et al.   JOURNAL OF ALZHEIMERS DISEASE

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

(2016) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rapidly Progressive Frontotemporal Dementia Associated with MAPT Mutation G389R

(2016) Lin Sun et al.   JOURNAL OF ALZHEIMERS DISEASE

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

(2016) Elkin Luis et al.   JOURNAL OF ALZHEIMERS DISEASE

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

(2016) Cyril Pottier et al.   JOURNAL OF NEUROCHEMISTRY

Human nonsense-mediated mRNA decay factor UPF2 interacts directly with eRF3 and the SURF complex

(2016) Andrés López-Perrote et al.   NUCLEIC ACIDS RESEARCH

Diagnostic utility of ASL-MRI and FDG-PET in the behavioral variant of FTD and AD

(2016) Duygu Tosun et al.   Annals of Clinical and Translational Neurology

p62/SQSTM1 analysis in frontotemporal lobar degeneration

(2015) Louise Miller et al.   NEUROBIOLOGY OF AGING

Clinicopathological description of two cases withSQSTM1gene mutation associated with frontotemporal dementia

(2015) Gabor G. Kovacs et al.   NEUROPATHOLOGY

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

(2014) Julie van der Zee et al.   ACTA NEUROPATHOLOGICA

SQSTM1 mutations – Bridging Paget disease of bone and ALS/FTLD

(2014) Sarah L. Rea et al.   EXPERIMENTAL CELL RESEARCH

Apolipoprotein Ε e4 Frequency Is Increased among Chinese Patients with Frontotemporal Dementia and Alzheimer's Disease

(2013) Yong Ji et al.   DEMENTIA AND GERIATRIC COGNITIVE DISORDERS

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY