Bo Hoon Lee
Overview
Explore the profile of Bo Hoon Lee including associated specialties, affiliations and a list of published articles.
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16
Citations
212
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Recent Articles
1.
Goedeker N, Rogers A, Fisher M, Arya K, Brandsema J, Farah H, et al.
Muscle Nerve
. 2024 Oct;
70(6):1247-1256.
PMID: 39370660
Introduction/aims: While prompt identification and treatment of infants with spinal muscular atrophy (SMA) can ameliorate outcomes, variability persists. This study assessed management and outcomes of early-treated infants with SMA. Methods:...
2.
Deng S, Lee B
Neurology
. 2024 Aug;
103(5):e209757.
PMID: 39133882
Biallelic pathogenic variants in have been associated with a rare congenital muscular dystrophy that presents with muscle weakness, short stature, intellectual disability, and early-onset cataracts. A characteristic pattern of muscle...
3.
Lietsch M, Chan K, Taylor J, Lee B, Ciafaloni E, Kwon J, et al.
Int J Neonatal Screen
. 2024 Apr;
10(2).
PMID: 38651399
In the United States and around the world, newborns are screened on a population basis for conditions benefiting from pre-symptomatic diagnosis and treatment. The number of screened conditions continues to...
4.
Lee B
Continuum (Minneap Minn)
. 2022 Dec;
28(6):1678-1697.
PMID: 36537975
Purpose Of Review: This article reviews the history, epidemiology, genetics, clinical presentation, multidisciplinary management, and established and emerging therapies for the dystrophinopathies. Recent Findings: The multidisciplinary care of individuals with...
5.
Rosati J, Johnson J, Stander Z, White A, Tortorelli S, Bailey D, et al.
Am J Med Genet A
. 2022 Dec;
191(3):842-845.
PMID: 36495139
Biallelic pathogenic variants in the COASY gene have been associated with two distinct disease phenotypes, that is, COASY-protein associated neurodegeneration (CoPAN) and pontocerebellar hypoplasia type 12 (PCH 12). We present...
6.
Lee B, Deng S, Chiriboga C, Kay D, Irumudomon O, Laureta E, et al.
Neurology
. 2022 Jul;
99(14):e1527-e1537.
PMID: 35835557
Background And Objectives: Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel in July 2018 largely on the basis of the availability and efficacy of newly approved...
7.
Deng S, Lee B, Ciafaloni E, MacKenzie S
Ann Neurol
. 2022 Mar;
91(6):891.
PMID: 35338521
No abstract available.
8.
Deng S, Lee B, Ciafaloni E
J Child Neurol
. 2021 Nov;
37(1):43-49.
PMID: 34753336
Objective: To identify factors parents considered in treatment decision making for children diagnosed with spinal muscular atrophy on newborn screening. Methods: Participants were recruited through the University of Rochester or...
9.
Lee B, Waldrop M, Connolly A, Ciafaloni E
Muscle Nerve
. 2021 May;
64(2):153-155.
PMID: 33959970
Implementation of newborn screening for spinal muscular atrophy (SMA) in 33 US states and increased genetic carrier screening have led to an increase in early, presymptomatic diagnosis of SMA. Early...
10.
Sheppard S, Campbell I, Harr M, Gold N, Li D, Bjornsson H, et al.
Am J Med Genet A
. 2021 Mar;
185(6):1649-1665.
PMID: 33783954
Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104...