Making Connections: Pathology and Genetics Link Amyotrophic Lateral Sclerosis with Frontotemporal Lobe Dementia

Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease

(2011) Hidefumi Ito et al.   ACTA NEUROPATHOLOGICA

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

(2011) Tibor Hortobágyi et al.   ACTA NEUROPATHOLOGICA

Differential Involvement of Optineurin in Amyotrophic Lateral Sclerosis With or Without SOD1 Mutations

(2011) Han-Xiang Deng   ARCHIVES OF NEUROLOGY

Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians

(2011) Aritoshi Iida et al.   NEUROBIOLOGY OF AGING

Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth

(2011) P. Wild et al.   SCIENCE

FUS Transgenic Rats Develop the Phenotypes of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

(2011) Cao Huang et al.   PLoS Genetics

Paraoxonase gene mutations in amyotrophic lateral sclerosis

(2010) Nicola Ticozzi et al.   ANNALS OF NEUROLOGY

Amyotrophic Lateral Sclerosis–Frontotemporal Lobar Dementia in 3 Families With p.Ala382Thr TARDBP Mutations

(2010) Adriano Chiò et al.   ARCHIVES OF NEUROLOGY

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

(2010) Fabien Dutheil et al.   ARCHIVES OF NEUROLOGY

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

Extensive FUS-Immunoreactive Pathology in Juvenile Amyotrophic Lateral Sclerosis with Basophilic Inclusions

(2010) Eric J. Huang et al.   BRAIN PATHOLOGY

Neurotoxic effects of TDP-43 overexpression in C. elegans

(2010) Peter E.A. Ash et al.   HUMAN MOLECULAR GENETICS

Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy

(2010) J. S. Ju et al.   HUMAN MOLECULAR GENETICS

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

(2010) C. Lagier-Tourenne et al.   HUMAN MOLECULAR GENETICS

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion

(2010) Naoki Suzuki et al.   JOURNAL OF HUMAN GENETICS

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

(2010) Justin P. Pearson et al.   JOURNAL OF NEUROLOGY

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

(2010) A. L. Boxer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

(2010) Hannu Laaksovirta et al.   LANCET NEUROLOGY

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

(2010) Aleksey Shatunov et al.   LANCET NEUROLOGY

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

(2010) Omar M E Albagha et al.   NATURE GENETICS

Genetic contribution of FUS to frontotemporal lobar degeneration

(2010) T. Van Langenhove et al.   NEUROLOGY

Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations

(2010) D. Baumer et al.   NEUROLOGY

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

(2010) J. Yan et al.   NEUROLOGY

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

An autopsied case of sporadic adult-onset amyotrophic lateral sclerosis with FUS-positive basophilic inclusions

(2010) Takeshi Matsuoka et al.   NEUROPATHOLOGY

Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

(2010) Laura E. Cox et al.   PLoS One

A Drosophila model for TDP-43 proteinopathy

(2010) Y. Li 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

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

(2010) Hans Wils et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transgenic Rat Model of Neurodegeneration Caused by Mutation in the TDP Gene

(2010) Hongxia Zhou et al.   PLoS Genetics

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

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

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

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

TARDBPmutations in motoneuron disease with frontotemporal lobar degeneration

(2009) Lina Benajiba et al.   ANNALS OF NEUROLOGY

Recent advances in the genetics of amyotrophic lateral sclerosis

(2009) Paul N. Valdmanis et al.   Current Neurology and Neuroscience Reports

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

(2009) Jeong-Sun Ju et al.   JOURNAL OF CELL BIOLOGY

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis

(2009) I. P. Blair et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

No evidence for cognitive dysfunction or depression in patients with mild restless legs syndrome

(2009) Erika Driver-Dunckley et al.   MOVEMENT DISORDERS

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

(2009) I. Le Ber et al.   NEUROLOGY

A CASE OF ALS-FTD IN A LARGE FALS PEDIGREE WITH A K17I ANG MUTATION

(2009) M. A. van Es et al.   NEUROLOGY

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

(2009) N. Ticozzi et al.   NEUROLOGY

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22

(2009) Russell J. Butterfield et al.   NEUROMUSCULAR DISORDERS

Valosin-containing protein disease: Inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia

(2009) Conrad C. Weihl et al.   NEUROMUSCULAR DISORDERS

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

(2009) I. Wegorzewska et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2008) Masato Hasegawa et al.   ANNALS OF NEUROLOGY

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Genetics of familial amyotrophic lateral sclerosis

(2008) P. N. Valdmanis et al.   NEUROLOGY

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE