Prevalence and patterns of cognitive impairment in sporadic ALS

GM Ringholz, SH Appel, M Bradshaw, NA Cooke… - Neurology, 2005 - AAN Enterprises
Objective: To investigate the prevalence and nature of cognitive changes associated with
sporadic amyotrophic lateral sclerosis (ALS) using a large scale study. Methods: Consecutive …

Natural history of amyotrophic lateral sclerosis in a database population Validation of a scoring system and a model for survival prediction

LJ Haverkamp, V Appel, SH Appel - Brain, 1995 - academic.oup.com
Over 1200 patients with motor neuron disease have been carefully diagnosed, followed, and
included in a detailed database delineating characteristics of the disease. Of these patients…

A unifying hypothesis for the cause of amyotrophic lateral sclerosis, parkinsonism, and Alzheimer disease

SH Appel - Annals of Neurology: Official Journal of the …, 1981 - Wiley Online Library
The causes of amyotrophic lateral sclerosis, Parkinson disease, and Alzheimer disease are
unknown. Furthermore, treatment for two of these conditions is almost totally lacking. The …

[PDF][PDF] Genome-wide analyses identify KIF5A as a novel ALS gene

…, S Chandran, S Pal, G Manousakis, SH Appel… - Neuron, 2018 - cell.com
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls…

Wild-type microglia extend survival in PU. 1 knockout mice with familial amyotrophic lateral sclerosis

…, L Siklos, SR McKercher, SH Appel - Proceedings of the …, 2006 - National Acad Sciences
The most common inherited form of amyotrophic lateral sclerosis (ALS), a neurodegenerative
disease affecting adult motoneurons, is caused by dominant mutations in the ubiquitously …

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

…, V Silani, N Ticozzi, CE Shaw, RH Baloh, S Appel… - Science, 2015 - science.org
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective
treatment. We report the results of a moderate-scale sequencing study aimed at increasing the …

[HTML][HTML] An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in …

…, W David, J Rothstein, E Simpson, SH Appel… - The Lancet …, 2013 - thelancet.com
Background Mutations in SOD1 cause 13% of familial amyotrophic lateral sclerosis. In the
SOD1 Gly93Ala rat model of amyotrophic lateral sclerosis, the antisense oligonucleotide ISIS …

Presence of dendritic cells, MCP‐1, and activated microglia/macrophages in amyotrophic lateral sclerosis spinal cord tissue

…, T Siddique, DR Beers, SH Appel - Annals of Neurology …, 2004 - Wiley Online Library
Dendritic cells are potent antigen‐presenting cells that initiate and amplify immune responses.
To determine whether dendritic cells participate in inflammatory reactions in amyotrophic …

Mutant mice (quaking and jimpy) with deficient myelination in the central nervous system

RL Sidman, MM Dickie, SH Appel - Science, 1964 - science.org
Two mutant mice with deficient myelination are described. Quaking is a new autosomal
recessive mutant mouse with marked tremor of the hindquarters. The mice eat, swim, breed, and …

Mutations in NR4A2 associated with familial Parkinson disease

W Le, P Xu, J Jankovic, H Jiang, SH Appel, RG Smith… - Nature …, 2003 - nature.com
NR4A2, encoding a member of nuclear receptor superfamily 1, is essential for the
differentiation of the nigral dopaminergic neurons 2, 3, 4. To determine whether NR4A2 is a …