John J Alexander
Overview
Explore the profile of John J Alexander including associated specialties, affiliations and a list of published articles.
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36
Citations
1340
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Recent Articles
1.
Krastein J, Pica-Branco D, Bacho M, Mulugeta Y, Maynard J, Alexander J, et al.
Ther Innov Regul Sci
. 2023 Jun;
57(5):1099-1103.
PMID: 37389793
Purpose: The Pediatric Research Equity Act (PREA) gives the US Food and Drug Administration (FDA) authority to require pediatric studies for drug and biologics products under certain circumstances and to...
2.
Karpen S, Kamath B, Alexander J, Ichetovkin I, Rosenthal P, Sokol R, et al.
J Pediatr Gastroenterol Nutr
. 2021 Mar;
72(5):654-660.
PMID: 33720099
Objectives: Cholestasis is caused by a wide variety of etiologies, often genetic in origin. Broad overlap in clinical presentations, particularly in newborns, renders prioritizing diagnostic investigations challenging. In this setting,...
3.
Lewis H, Samanta D, Orsell J, Bosanko K, Rowell A, Jones M, et al.
Pediatr Neurol
. 2020 May;
112:94-100.
PMID: 32446642
Background: Seizures are an under-reported feature of the SATB2-associated syndrome phenotype. We describe the electroencephalographic findings and seizure semiology and treatment in a population of individuals with SATB2-associated syndrome. Methods:...
4.
Hornik C, Gelfand A, Szperka C, Pezzuto T, Utevsky A, Kessel S, et al.
Headache
. 2019 Nov;
60(2):405-415.
PMID: 31758549
Objective: To develop a multicenter, multistakeholder, prospective clinical registry of children and adolescents with migraine to support the collection of real-world data of sufficient quality to support regulatory submissions and...
5.
Shen J, Oza A, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, et al.
Genet Med
. 2019 Jun;
21(11):2442-2452.
PMID: 31160754
Purpose: Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and c.109G>A/p.Val37Ile in GJB2 are controversial. Therefore, an expert consensus...
6.
Gamlin P, Alexander J, Boye S, Witherspoon C, Boye S
Methods Mol Biol
. 2019 Feb;
1950:249-262.
PMID: 30783978
Adeno-associated virus (AAV) has emerged as the vector of choice for delivering genes to the retina. Indeed, the first gene therapy to receive FDA approval in the United States is...
7.
Nallamilli B, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, et al.
Ann Clin Transl Neurol
. 2018 Dec;
5(12):1574-1587.
PMID: 30564623
Objective: Limb-girdle muscular dystrophies (LGMDs), one of the most heterogeneous neuromuscular disorders (NMDs), involves predominantly proximal-muscle weakness with >30 genes associated with different subtypes. The clinical-genetic overlap among subtypes and...
8.
Butler K, Holt P, Milla S, da Silva C, Alexander J, Escayg A
Case Rep Genet
. 2018 Nov;
2018:6308283.
PMID: 30410802
encodes an auxiliary subunit of the voltage-dependent calcium channel. To date, there have only been two reports of individuals with early-infantile epileptic encephalopathy due to mutations. In both reports, patients...
9.
Mattison K, Butler K, Inglis G, Dayan O, Boussidan H, Bhambhani V, et al.
Epilepsia
. 2018 Aug;
59(9):e135-e141.
PMID: 30132828
Previous reports have identified SLC6A1 variants in patients with generalized epilepsies, such as myoclonic-atonic epilepsy and childhood absence epilepsy. However, to date, none of the identified SLC6A1 variants has been...
10.
Ankala A, Jain N, Hubbard B, Alexander J, Shankar S
Am J Med Genet A
. 2018 Jul;
176(8):1778-1783.
PMID: 30055036
Wagner syndrome and erosive vitreoretinopathy together constitute the phenotypic continuum of an autosomal dominant vitreoretinopathy, with clinical findings typically isolated to the eye. The disease is caused by pathogenic variants...