User profiles for Janel O. Johnson
Janel O JohnsonNational Institutes of Health Verified email at mail.nih.gov Cited by 19923 |
[PDF][PDF] A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
…, J Ding, DW Harmer, DG Hernandez, JO Johnson… - Neuron, 2011 - cell.com
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD)
locus contains one of the last major unidentified autosomal-dominant genes underlying these …
locus contains one of the last major unidentified autosomal-dominant genes underlying these …
[PDF][PDF] Exome sequencing reveals VCP mutations as a cause of familial ALS
JO Johnson, J Mandrioli, M Benatar, Y Abramzon… - Neuron, 2010 - cell.com
Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing
protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic …
protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic …
[HTML][HTML] Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
…, JC Van Swieten, Y Abramzon, JO Johnson… - The Lancet …, 2012 - thelancet.com
Background We aimed to accurately estimate the frequency of a hexanucleotide repeat
expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic …
expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic …
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein
linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome …
linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome …
A genome-wide association study of myasthenia gravis
…, S Chong, DG Hernandez, JO Johnson… - JAMA …, 2015 - jamanetwork.com
Importance Myasthenia gravis is a chronic, autoimmune, neuromuscular disease characterized
by fluctuating weakness of voluntary muscle groups. Although genetic factors are known …
by fluctuating weakness of voluntary muscle groups. Although genetic factors are known …
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
Brown–Vialetto–Van Laere syndrome was first described in 1894 as a rare neurodegenerative
disorder characterized by progressive sensorineural deafness in combination with …
disorder characterized by progressive sensorineural deafness in combination with …
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
Sir, A recent study by Bannwarth and colleagues has shown that variation in the CHCHD10
gene is a cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (…
gene is a cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (…
Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis
Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized
by age of symptom onset less than 25 years and a variable presentation. Objective To …
by age of symptom onset less than 25 years and a variable presentation. Objective To …
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene
…, P Cossu, Y Abramzon, JO Johnson… - Archives of …, 2011 - jamanetwork.com
Objective: To perform an extensive screening for mutations of amyotrophic lateral sclerosis (ALS)–related
genes in a consecutive cohort of Sardinian patients, a genetic isolate …
genes in a consecutive cohort of Sardinian patients, a genetic isolate …
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis
We recently reported that mutations in the valosin-containing protein (VCP) gene are a
cause of 1%–2% of familial amyotrophic lateral sclerosis (ALS) cases, but their role in the …
cause of 1%–2% of familial amyotrophic lateral sclerosis (ALS) cases, but their role in the …