John J Alexander
Overview
Explore the profile of John J Alexander including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
36
Citations
1340
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
11.
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy
Butler K, Moody O, Schuler E, Coryell J, Alexander J, Jenkins A, et al.
Brain
. 2018 Jul;
141(8):2392-2405.
PMID: 29961870
GABAA receptors are ligand-gated anion channels that are important regulators of neuronal inhibition. Mutations in several genes encoding receptor subunits have been identified in patients with various types of epilepsy,...
12.
Hall P, Lam C, Alexander J, Asif G, Berry G, Ferreira C, et al.
Mol Genet Metab
. 2018 Mar;
124(1):82-86.
PMID: 29550355
N-glycanase deficiency (NGLY1 deficiency, NGLY1-CDDG), the first autosomal recessive congenital disorder of N-linked deglycosylation (CDDG), is caused by pathogenic variants in NGLY1. The majority of affected individuals have been identified...
13.
Tortorelli S, Eckerman J, Orsini J, Stevens C, Hart J, Hall P, et al.
Genet Med
. 2017 Nov;
20(8):840-846.
PMID: 29095812
Purpose: To describe a novel biochemical marker in dried blood spots suitable to improve the specificity of newborn screening for Pompe disease. Methods: The new marker is a ratio calculated...
14.
Butler K, da Silva C, Alexander J, Hegde M, Escayg A
Pediatr Neurol
. 2017 Oct;
77:61-66.
PMID: 29056246
Background: The contribution of genetic factors to epilepsy has long been recognized and has been estimated to play a role in 70% to 80% of cases. Identification of a pathogenic...
15.
Berg A, Coryell J, Saneto R, Grinspan Z, Alexander J, Kekis M, et al.
JAMA Pediatr
. 2017 Aug;
171(9):863-871.
PMID: 28759667
Importance: Early-life epilepsies are often a consequence of numerous neurodevelopmental disorders, most of which are proving to have genetic origins. The role of genetic testing in the initial evaluation of...
16.
Beltran W, Cideciyan A, Boye S, Ye G, Iwabe S, Dufour V, et al.
Mol Ther
. 2017 Jun;
25(8):1866-1880.
PMID: 28566226
X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene is an early onset and severe cause of blindness. Successful proof-of-concept studies in a canine model have recently shown...
17.
Hall P, Laine R, Alexander J, Ankala A, Teot L, Lidov H, et al.
JIMD Rep
. 2017 May;
38:61-65.
PMID: 28540636
GM2 activator (GM2A) deficiency (OMIM 613109) is a rare lysosomal storage disorder, with onset typically in infancy or early childhood. Clinically, it is almost indistinguishable from Tay-Sachs disease (OMIM 272800)...
18.
Choudhury S, Strang C, Alexander J, Scalabrino M, Lynch Hill J, Kasuga D, et al.
Front Neurosci
. 2016 Dec;
10:551.
PMID: 27990105
The ability to generate macaque retinas with sortable cell populations would be of great benefit to both basic and translational studies of the primate retina. The purpose of our study...
19.
Butler K, da Silva C, Shafir Y, Weisfeld-Adams J, Alexander J, Hegde M, et al.
Epilepsy Res
. 2016 Nov;
129:17-25.
PMID: 27875746
Objectives: To determine the incidence of pathogenic SCN8A variants in a cohort of epilepsy patients referred for clinical genetic testing. We also investigated the contribution of SCN8A to autism spectrum...
20.
Garber K, Vincent L, Alexander J, Bean L, Bale S, Hegde M
Am J Hum Genet
. 2016 Nov;
99(5):1140-1149.
PMID: 27843123
Accurate interpretation of DNA sequence variation is a prerequisite for implementing personalized medicine. Discrepancies in interpretation between testing laboratories impede the effective use of genetic test results in clinical medicine....