Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene

(2013) Hiroshi Shimizu et al.   ACTA NEUROPATHOLOGICA

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

(2013) Elisa Teyssou et al.   ACTA NEUROPATHOLOGICA

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

(2013) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease

(2013) Matthis Synofzik et al.   NEUROBIOLOGY OF AGING

Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis

(2013) M. Hirano et al.   NEUROLOGY

TARDBPmutation p.Ile383Val associated with semantic dementia and complex proteinopathy

(2013) E. Gelpi et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

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

(2013) Marc Cruts et al.   TRENDS IN NEUROSCIENCES

The molecular basis of the frontotemporal lobar degeneration–amyotrophic lateral sclerosis spectrum

(2012) Tim van Langenhove et al.   ANNALS OF MEDICINE

A Pan-European Study of theC9orf72Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

(2012) Julie van der Zee et al.   HUMAN MUTATION

p62/sequestosome 1 binds to TDP-43 in brains with frontotemporal lobar degeneration with TDP-43 inclusions

(2012) Kunikazu Tanji et al.   JOURNAL OF NEUROSCIENCE RESEARCH

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

A harmonized classification system for FTLD-TDP pathology

(2011) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

(2011) Alexander Zimprich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

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

(2011) Katya Rascovsky et al.   BRAIN

The Multiple Faces of Valosin-Containing Protein-Associated Diseases: Inclusion Body Myopathy with Paget’s Disease of Bone, Frontotemporal Dementia, and Amyotrophic Lateral Sclerosis

(2011) Angèle Nalbandian et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

An MND/ALS phenotype associated withC9orf72repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline

(2011) Claire Troakes et al.   NEUROPATHOLOGY

SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone

(2010) Luigi Gennari et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

(2009) J. van der Zee et al.   NEUROLOGY

VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: Review of a unique disorder

(2008) Virginia E. Kimonis et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Founder Effect in Different European Countries for the Recurrent P392L SQSTM1 Mutation in Paget’s Disease of Bone

(2008) Pui Yan Jenny Chung et al.   CALCIFIED TISSUE INTERNATIONAL