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

Mutant TRPV4-mediated Toxicity Is Linked to Increased Constitutive Function in Axonal Neuropathies

(2011) Faisal Fecto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

(2010) Hazel Urwin et al.   ACTA NEUROPATHOLOGICA

Paraoxonase gene mutations in amyotrophic lateral sclerosis

(2010) Nicola Ticozzi et al.   ANNALS OF NEUROLOGY

Interaction Between ABCB1 and Professional Exposure to Organochlorine Insecticides in Parkinson Disease

(2010) Fabien Dutheil et al.   ARCHIVES OF NEUROLOGY

Emerging role of Alzheimer's disease-associated ubiquilin-1 in protein aggregation: Figure 1

(2010) Annakaisa Haapasalo et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Protein aggregation diseases: pathogenicity and therapeutic perspectives

(2010) Adriano Aguzzi et al.   NATURE REVIEWS DRUG DISCOVERY

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Recognition of tandem PxxP motifs as a unique Src homology 3-binding mode triggers pathogen-driven actin assembly

(2010) O. Aitio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

(2010) J. Mitchell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

(2009) Clement Y. Chow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A new subtype of frontotemporal lobar degeneration with FUS pathology

(2009) M. Neumann et al.   BRAIN

Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43

(2009) Takashi Nonaka et al.   HUMAN MOLECULAR GENETICS

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

Potentiation of Amyotrophic Lateral Sclerosis (ALS)-associated TDP-43 Aggregation by the Proteasome-targeting Factor, Ubiquilin 1

(2008) Sang Hwa Kim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE