Familial amyotrophic lateral sclerosis, a historical perspective.

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

1993 • 6,762 citations

Motor Neuron Degeneration in Mice that Express a Human Cu,Zn Superoxide Dismutase Mutation

1994 • 3,959 citations

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

2008 • 2,514 citations

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

2009 • 2,460 citations

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

2009 • 2,415 citations

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

2004 • 946 citations

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

2001 • 722 citations

Epidemiology of mutations in superoxide dismutase in amyotrophic lateal sclerosis

1997 • 517 citations

Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease

2007 • 468 citations

Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria

2006 • 419 citations

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

2009 • 370 citations

FUS‐immunoreactive inclusions are a common feature in sporadic and non‐SOD1 familial amyotrophic lateral sclerosis

2010 • 334 citations

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

2010 • 256 citations

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

2010 • 229 citations

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

2010 • 196 citations

Prognosis in Familial Amyotrophic Lateral Sclerosis

1997 • 190 citations

Amyotrophic Lateral Sclerosis Associated with Genetic Abnormalities in the Gene Encoding Cu/Zn Superoxide Dismutase: Molecular Pathology of Five New Cases, and Comparison with Previous Reports and 73 Sporadic Cases of ALS

1998 • 142 citations

The unfolded protein response in familial amyotrophic lateral sclerosis

2010 • 130 citations

Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes

1996 • 130 citations

Paraoxonase cluster polymorphisms are associated with sporadic ALS

2006 • 125 citations

AN INHERITED DISEASE SIMILAR TO AMYOTROPHIC LATERAL SCLEROSIS WITH A PATTERN OF POSTERIOR COLUMN INVOLVEMENT. AN INTERMEDIATE FORM?

1959 • 95 citations

Paraoxonase gene polymorphisms and sporadic ALS

2006 • 93 citations

Age and founder effect of SOD1 A4V mutation causing ALS

2009 • 92 citations

Processing of Optineurin in Neuronal Cells

2010 • 86 citations

Retrograde axonal transport and motor neuron disease

2008 • 74 citations

Paraoxonase gene mutations in amyotrophic lateral sclerosis

2010 • 74 citations

Paraoxonase promoter and intronic variants modify risk of sporadic amyotrophic lateral sclerosis

2007 • 62 citations

Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden

2008 • 59 citations

Valosin Containing Protein Associated Fronto-Temporal Lobar Degeneration:Clinical Presentation, Pathologic Features and Pathogenesis

2011 • 39 citations

Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation

2010 • 38 citations