Six SQSTM1 mutations in a Chinese amyotrophic lateral sclerosis cohort

Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene

(2013) Hiroshi Shimizu et al.   ACTA NEUROPATHOLOGICA

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

(2013) Elisa Teyssou et al.   ACTA NEUROPATHOLOGICA

Interaction Domains of p62: A Bridge Between p62 and Selective Autophagy

(2013) Xiaolong Lin et al.   DNA AND CELL BIOLOGY

New Insights Into the Role of Sequestosome 1/p62 Mutant Proteins in the Pathogenesis of Paget's Disease of Bone

(2013) Sarah L. Rea et al.   ENDOCRINE REVIEWS

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB

(2013) Chun T Kwok et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2013) M. Hirano et al.   NEUROLOGY

C9orf72 repeat expansions are not detected in Chinese patients with familial ALS

(2013) Rong Liu et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis

(2013) Cristian A. Droppelmann et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis

(2012) Kotaro Ogaki et al.   NEUROBIOLOGY OF AGING

Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis

(2012) Ja-Hyun Jang et al.   NEUROBIOLOGY OF AGING

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

Proposed criteria for familial amyotrophic lateral sclerosis

(2011) Susan Byrne et al.   Amyotrophic Lateral Sclerosis

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Selective autophagy mediated by autophagic adapter proteins

(2011) Terje Johansen et al.   Autophagy

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Clinical diagnosis and management of amyotrophic lateral sclerosis

(2011) Orla Hardiman et al.   Nature Reviews Neurology

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Oxidative damage to the promoter region of SQSTM1/p62 is common to neurodegenerative disease

(2009) Yifeng Du et al.   NEUROBIOLOGY OF DISEASE

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Detergent-insoluble Aggregates Associated with Amyotrophic Lateral Sclerosis in Transgenic Mice Contain Primarily Full-length, Unmodified Superoxide Dismutase-1

(2008) Bryan F. Shaw et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic inactivation of p62 leads to accumulation of hyperphosphorylated tau and neurodegeneration

(2008) J. Ramesh Babu et al.   JOURNAL OF NEUROCHEMISTRY

ALSFRS-R score and its ratio: A useful predictor for ALS-progression

(2008) Katja Kollewe et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Progranulin genetic variability contributes to amyotrophic lateral sclerosis

(2008) K. Sleegers et al.   NEUROLOGY

Hypoxia-activated autophagy accelerates degradation of SQSTM1/p62

(2008) J-P Pursiheimo et al.   ONCOGENE

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE