Edward C Smith
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Explore the profile of Edward C Smith including associated specialties, affiliations and a list of published articles.
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46
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905
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Recent Articles
1.
McNamee L, Schoch K, Huang A, Lee H, Wang L, Smith E, et al.
Am J Med Genet A
. 2024 Jun;
194(11):e63798.
PMID: 38924341
Although next-generation sequencing has enabled diagnoses for many patients with Mendelian disorders, the majority remain undiagnosed. Here, we present a sibling pair who were clinically diagnosed with Escobar syndrome, however...
2.
Potter S, Migliore B, Carter J, Copeland V, Smith E, Peay H, et al.
Int J Neonatal Screen
. 2024 Jun;
10(2).
PMID: 38920848
Duchenne muscular dystrophy (DMD) is an X-linked progressive disorder and the most common type of muscular dystrophy in children. As newborn screening (NBS) for DMD undergoes evaluation for the Recommended...
3.
Cocanougher B, Liu S, Francescatto L, Behura A, Anneling M, Jackson D, et al.
HGG Adv
. 2024 Apr;
5(3):100288.
PMID: 38566418
Biallelic loss-of-function variants in the MUSK gene result in two allelic disorders: (1) congenital myasthenic syndrome (CMS; OMIM: 616325), a neuromuscular disorder that has a range of severity from severe...
4.
Dang U, Damsker J, Guglieri M, Clemens P, Perlman S, Smith E, et al.
Neurology
. 2024 Feb;
102(5):e208112.
PMID: 38335499
Background And Objectives: Vamorolone is a dissociative agonist of the glucocorticoid receptor that has shown similar efficacy and reduced safety concerns in comparison with prednisone in Duchenne muscular dystrophy (DMD)....
5.
Clemens P, Gordish-Dressman H, Niizawa G, Gorni K, Guglieri M, Connolly A, et al.
J Neuromuscul Dis
. 2023 Nov;
11(1):201-212.
PMID: 37980682
Background: Becker muscular dystrophy is an X-linked, genetic disorder causing progressive degeneration of skeletal and cardiac muscle, with a widely variable phenotype. Objective: A 3-year, longitudinal, prospective dataset contributed by...
6.
Kucera K, Boyea B, Migliore B, Potter S, Robles V, Kutsa O, et al.
Genet Med
. 2023 Oct;
26(1):101009.
PMID: 37864479
Purpose: Current and emerging treatments for Duchenne muscular dystrophy (DMD) position DMD as a candidate condition for newborn screening (NBS). In anticipation of the nomination of DMD for universal NBS,...
7.
Hannah W, Case L, Smith E, Walters C, Bali D, Kishnani P, et al.
JIMD Rep
. 2023 Sep;
64(5):393-400.
PMID: 37701327
Late-onset Pompe disease (LOPD) is a multisystem disorder with significant myopathy. The standard treatment is enzyme replacement therapy (ERT), a therapy that is lifesaving, yet with limitations. Clinical trials have...
8.
Schoch K, McConkie-Rosell A, Walley N, Bhambhani V, Feyma T, Pizoli C, et al.
Orphanet J Rare Dis
. 2023 Sep;
18(1):269.
PMID: 37667351
Background: A recurrent de novo variant (c.892C>T) in NACC1 causes a neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM). An unusual and consistently reported feature is...
9.
Shashi V, Schoch K, Ganetzky R, Kranz P, Sondheimer N, Markert M, et al.
Genet Med
. 2023 May;
25(9):100897.
PMID: 37191094
Purpose: Mendelian etiologies for acute encephalopathies in previously healthy children are poorly understood, with the exception of RAN binding protein 2 (RANBP2)-associated acute necrotizing encephalopathy subtype 1 (ANE1). We provide...
10.
Clemens P, Rao V, Connolly A, Harper A, Mah J, McDonald C, et al.
J Neuromuscul Dis
. 2023 Apr;
10(3):439-447.
PMID: 37005891
Background: Duchenne muscular dystrophy (DMD) is caused by DMD gene mutations, resulting in absence of functional dystrophin protein. Viltolarsen, an exon 53 skipping therapy, significantly increased dystrophin levels in patients...