Emily de Los Reyes
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Explore the profile of Emily de Los Reyes including associated specialties, affiliations and a list of published articles.
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28
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486
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Recent Articles
1.
Due C, Quinn J, Gissen P, Schulz A, Specchio N, de Los Reyes E, et al.
Healthcare (Basel)
. 2024 Nov;
12(22).
PMID: 39595427
Objectives: This study evaluated the psychometric properties of the ceroid lipofuscinosis type 2 Quality of Life (CLN2 QoL) questionnaire. Methods: Data from children with CLN2 disease aged 3-16 years receiving...
2.
Specchio N, Gissen P, de Los Reyes E, Olaye A, Camp C, Curteis T, et al.
PLoS One
. 2024 May;
19(5):e0302382.
PMID: 38776275
Background: The CLN2 Clinical Rating Scale evaluates disease progression in CLN2 disease, an ultra-rare, neurodegenerative disorder with late infantile onset. To validate the Clinical Rating Scale, a comparison with the...
3.
ONeal M, Noher de Halac I, Aylward S, Yildiz V, Zapanta B, Abreu N, et al.
Pediatr Neurol
. 2024 Mar;
154:51-57.
PMID: 38531163
Background: Mutations in the CLN6 gene cause late infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disease of childhood onset. Clinically, individuals present with progressive motor and cognitive regression, ataxia,...
4.
Rogers D, de Los Reyes E, Mendel T, Caprul B, Podlasiak S, Jordan C
J AAPOS
. 2024 Feb;
28(2):103830.
PMID: 38341082
Classically, peripheral vascular changes in the retina in patients with neuronal ceroid lipofuscinosis type 2 (CLN2) are described as vascular attenuation seen in the late stages of disease on the...
5.
Schulz A, Specchio N, de Los Reyes E, Gissen P, Nickel M, Trivisano M, et al.
Lancet Neurol
. 2023 Dec;
23(1):60-70.
PMID: 38101904
Background: Cerliponase alfa is a recombinant human tripeptidyl peptidase 1 (TPP1) enzyme replacement therapy for the treatment of neuronal ceroid lipofuscinosis type 2 (CLN2 disease), which is caused by mutations...
6.
Scherr J, Albright C, de Los Reyes E
Ther Adv Rare Dis
. 2023 May;
2:26330040211038564.
PMID: 37181116
Plain Language Summary: Telehealth is defined by the US Department of Health Resources and Services Administrations as the "use of electronic information and telecommunication technologies to support long-distance clinical healthcare,...
7.
Tunyi J, Abreu N, Tripathi R, Mathew M, Mears A, Agrawal P, et al.
Pediatr Neurol
. 2023 Mar;
142:47-50.
PMID: 36907087
The AIFM1 gene encodes a mitochondrial protein that acts as a flavin adenine dinucleotide-dependent nicotinamide adenine dinucleotide oxidase and apoptosis regulator. Monoallelic pathogenic AIFM1 variants result in a spectrum of...
8.
Boutzoukas A, Freedman D, Koterba C, Hunt G, Mack K, Cass J, et al.
Clin Infect Dis
. 2022 May;
76(3):e1114-e1122.
PMID: 35607778
Background: La Crosse virus (LACV) is the most common neuroinvasive arboviral infection in children in the United States. However, data regarding predictors of disease severity and neurologic outcome are limited....
9.
Hunter J, Massingham L, Manickam K, Bartholomew D, Williamson R, Schwab J, et al.
Cold Spring Harb Mol Case Stud
. 2022 Jan;
8(2).
PMID: 35091509
Alterations in the gene have recently emerged as the cause of developmental delay with or without intellectual impairment or behavioral abnormalities (MIM # 619575). The 32 cases currently described in...
10.
Ramadesikan S, Hickey S, de Los Reyes E, Patel A, Franklin S, Brennan P, et al.
Cold Spring Harb Mol Case Stud
. 2022 Jan;
8(2).
PMID: 35091508
Noncoding and synonymous coding variants that exert their effects via alternative splicing are increasingly recognized as an important category of disease-causing variants. In this report, we describe two siblings who...