Justin Y Kwan
Overview
Explore the profile of Justin Y Kwan including associated specialties, affiliations and a list of published articles.
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29
Citations
690
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Recent Articles
1.
Sheth U, Oijerstedt L, Heckman M, White L, Heuer H, Lario Lago A, et al.
Mol Neurodegener
. 2025 Mar;
20(1):30.
PMID: 40075459
Background: Therapeutic development for frontotemporal dementia (FTD) is hindered by the lack of biomarkers that inform susceptibility/risk, prognosis, and the underlying causative pathology. Blood glial fibrillary acidic protein (GFAP) has...
2.
Vandebergh M, Ramos E, Corriveau-Lecavalier N, Ramanan V, Kornak J, Mester C, et al.
Neurology
. 2024 Sep;
103(8):e209832.
PMID: 39321401
Background And Objectives: has been proposed as a modifier of disease risk in FTLD-TDP, particularly in pathogenic variant carriers. Furthermore, has been investigated as a disease modifier in the context...
3.
Snyder A, Ryan V, Hawrot J, Lawton S, Ramos D, Qi Y, et al.
Alzheimers Dement
. 2024 Jun;
20(8):5220-5235.
PMID: 38923692
Introduction: Variants of uncertain significance (VUS) surged with affordable genetic testing, posing challenges for determining pathogenicity. We examine the pathogenicity of a novel VUS P93S in Annexin A11 (ANXA11) -...
4.
Vandebergh M, Ramos E, Corriveau-Lecavalier N, Ramanan V, Kornak J, Mester C, et al.
medRxiv
. 2024 Apr;
PMID: 38633784
Background And Objectives: has been proposed as a modifier of disease risk in FTLD-TDP, particularly in mutation carriers. Furthermore, has been investigated as a disease modifier in the context of...
5.
Seddighi S, Qi Y, Brown A, Wilkins O, Bereda C, Belair C, et al.
Sci Transl Med
. 2024 Jan;
16(734):eadg7162.
PMID: 38277467
Functional loss of TDP-43, an RNA binding protein genetically and pathologically linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leads to the inclusion of cryptic exons in hundreds...
6.
Snyder A, Ryan V, Hawrot J, Lawton S, Ramos D, Qi Y, et al.
Res Sq
. 2023 Oct;
PMID: 37886540
As genetic testing has become more accessible and affordable, variants of uncertain significance (VUS) are increasingly identified, and determining whether these variants play causal roles in disease is a major...
7.
Portley M, Sherer C, Wu T, Farren J, Danielian L, Scholz S, et al.
Ann Clin Transl Neurol
. 2023 Aug;
10(10):1816-1823.
PMID: 37545108
Objective: Cognitive contributions to decisional capacity are complex and not well understood. Capacity to consent for research has been linked to executive function, but executive function assessment tools are imperfect....
8.
Seddighi S, Qi Y, Brown A, Wilkins O, Bereda C, Belair C, et al.
bioRxiv
. 2023 Feb;
PMID: 36747793
Functional loss of TDP-43, an RNA-binding protein genetically and pathologically linked to ALS and FTD, leads to inclusion of cryptic exons in hundreds of transcripts during disease. Cryptic exons can...
9.
Grunseich C, Sarkar N, Lu J, Owen M, Schindler A, Calabresi P, et al.
J Neurol Neurosurg Psychiatry
. 2021 Jun;
92(11):1186-1196.
PMID: 34103343
Background: We used a multimodal approach including detailed phenotyping, whole exome sequencing (WES) and candidate gene filters to diagnose rare neurological diseases in individuals referred by tertiary neurology centres. Methods:...
10.
Epps D, Kwan J, Russell J, Thomas T, Diaz-Abad M
J Clin Neuromuscul Dis
. 2020 Feb;
21(3):135-143.
PMID: 32073459
Objectives: The aim of this study was to determine the evaluation and management of dysphagia in amyotrophic lateral sclerosis (ALS) patients by speech-language pathologists (SLPs). Methods: A 15-question web-based survey...