Janel O Johnson
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Explore the profile of Janel O Johnson including associated specialties, affiliations and a list of published articles.
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4620
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Recent Articles
1.
Bott L, Forouhan M, Lieto M, Sala A, Ellerington R, Johnson J, et al.
Brain Commun
. 2021 Dec;
3(4):fcab245.
PMID: 34909687
The vacuolar H-ATPase is a large multi-subunit proton pump, composed of an integral membrane V0 domain, involved in proton translocation, and a peripheral V1 domain, catalysing ATP hydrolysis. This complex...
2.
Johnson J, Miller D, Li R, Kumaran R, Alahmady N, Cookson M, et al.
JAMA Neurol
. 2021 Aug;
78(10):1236-1248.
PMID: 34459874
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 identify the...
3.
Sullivan J, Motley W, Johnson J, Aisenberg W, Marshall K, Barwick K, et al.
J Clin Invest
. 2020 Feb;
130(3):1506-1512.
PMID: 32065591
Notch signaling is a highly conserved intercellular pathway with tightly regulated and pleiotropic roles in normal tissue development and homeostasis. Dysregulated Notch signaling has also been implicated in human disease,...
4.
Nicolas A, Kenna K, Renton A, Ticozzi N, Faghri F, Chia R, et al.
Neuron
. 2018 Mar;
97(6):1267-1288.
PMID: 29566793
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. Independently, we performed...
5.
Caress J, Johnson J, Abramzon Y, Hawkins G, Gibbs J, Sullivan E, et al.
Muscle Nerve
. 2017 Jan;
56(5):1001-1005.
PMID: 28039894
Introduction: Progressive bulbar motor neuropathy is primarily caused by bulbar-onset ALS. Hereditary amyloidosis type IV also presents with a bulbar neuropathy that mimics motor neuron disease. The disease is prevalent...
6.
Chio A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor B, et al.
Neurobiol Aging
. 2016 Jan;
39:218.e5-8.
PMID: 26733254
There are indications that both familial amyotrophic lateral sclerosis (ALS) and sporadic ALS phenotype and prognosis are partly regulated by genetic and environmental factors, supporting the theory that ALS is...
7.
Chio A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor B, et al.
Neurobiol Aging
. 2015 Jul;
36(10):2906.e7-11.
PMID: 26174855
It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We...
8.
Zukosky K, Meilleur K, Traynor B, Dastgir J, Medne L, Devoto M, et al.
JAMA Neurol
. 2015 May;
72(6):689-98.
PMID: 25938801
Importance: New genomic strategies can now be applied to identify a diagnosis in patients and families with previously undiagnosed rare genetic conditions. The large family evaluated in the present study...
9.
Rinaldi C, Schmidt T, Situ A, Johnson J, Lee P, Chen K, et al.
JAMA Neurol
. 2015 Mar;
72(5):561-70.
PMID: 25751282
Importance: The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespread availability of next-generation DNA sequencing methods. Nevertheless, a genetic diagnosis remains...
10.
Chio A, Mora G, Sabatelli M, Caponnetto C, Traynor B, Johnson J, et al.
Neurobiol Aging
. 2015 Mar;
36(4):1767.e3-1767.e6.
PMID: 25726362
Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) comorbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency...