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View article: Cerebrospinal fluid proteomic profiling reveals potential biomarkers and altered pathways in myotonic dystrophy type 1
Cerebrospinal fluid proteomic profiling reveals potential biomarkers and altered pathways in myotonic dystrophy type 1 Open
Introduction Myotonic dystrophy (DM), the most common adult-onset muscular dystrophy, affects not only motor function and muscle integrity but also leads to debilitating cardiopulmonary, gastrointestinal, and multisystem complications. Cen…
View article: Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration
Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration Open
View article: Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study
Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study Open
What is this summary about? This summary describes the results of a research study (clinical trial) called ASPIRO that was published in the Lancet Neurology in 2023. This study looked at an investigational gene therapy called resamirigene …
View article: Rehabilitation research in spinal muscular atrophy: a call to action
Rehabilitation research in spinal muscular atrophy: a call to action Open
Design The landscape of spinal muscular atrophy drastically changed following the introduction of disease-modifying therapies, emphasizing the need for comprehensive rehabilitation strategies to maximize functional outcomes. Our aim is to …
View article: Optimizing MV CBCT Imaging Protocols Using NTCP and Secondary Cancer Risk: A Multi-Site Study in Breast, Pelvic, and Head & Neck Radiotherapy
Optimizing MV CBCT Imaging Protocols Using NTCP and Secondary Cancer Risk: A Multi-Site Study in Breast, Pelvic, and Head & Neck Radiotherapy Open
Purpose: To evaluate the cumulative radiobiological impact of daily Megavoltage Cone-Beam Computed Tomography (MV-CBCT) imaging dose based on Normal Tissue Complication Probability (NTCP) and Excess Absolute Risk (EAR) of secondary maligna…
View article: Correction: Serial casting for contractures in SMA: consensus derived guidelines for treatment
Correction: Serial casting for contractures in SMA: consensus derived guidelines for treatment Open
[This corrects the article DOI: 10.3389/fneur.2025.1502495.].
View article: Longitudinal Assessment of 4‐Year <scp>HFMSE</scp> Changes in <scp>SMA II</scp> and <scp>III</scp> Patients Treated With Nusinersen
Longitudinal Assessment of 4‐Year <span>HFMSE</span> Changes in <span>SMA II</span> and <span>III</span> Patients Treated With Nusinersen Open
Background The aim of this international retrospective study was to assess 4‐year change using the Hammersmith Functional Motor Scale Expanded (HFMSE) in individuals with type II and III spinal muscular atrophy (SMA) treated with nusinerse…
View article: Cardiopulmonary Recovery After Maximal Exercise in Individuals with Neuromuscular Disease and Limited Mobility
Cardiopulmonary Recovery After Maximal Exercise in Individuals with Neuromuscular Disease and Limited Mobility Open
Background: Individuals with neuromuscular diseases (NMDs) have low physical activity levels and an increased risk of cardiovascular and pulmonary diseases. Respiratory gas kinetics obtained during cardiopulmonary exercise testing (CPET) m…
View article: Corrigendum to “Assessing disease progression in Spinal Muscular Atrophy, current gaps, and opportunities: a narrative review” [NMD, volume 49, article 105341]
Corrigendum to “Assessing disease progression in Spinal Muscular Atrophy, current gaps, and opportunities: a narrative review” [NMD, volume 49, article 105341] Open
View article: A real-world analysis of the impact of X-linked myotubular myopathy on caregivers in the United States
A real-world analysis of the impact of X-linked myotubular myopathy on caregivers in the United States Open
Background X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, which often includes the need for invasive ventilator support, gastrostomy tube feeding, and wheelchair use in ap…
View article: Cardiopulmonary Recovery After Maximal Exercise in Individuals with Neuromuscular Disease and Limited Mobility
Cardiopulmonary Recovery After Maximal Exercise in Individuals with Neuromuscular Disease and Limited Mobility Open
Background: Individuals with neuromuscular diseases (NMD) have low physical activity levels and an increased risk of cardiovascular and pulmonary diseases. Respiratory gas kinetics obtained during Cardiopulmonary Exercise Testing (CPET) ma…
View article: Serial casting for contractures in SMA: consensus derived guidelines for treatment
Serial casting for contractures in SMA: consensus derived guidelines for treatment Open
Background Individuals with Spinal Muscular Atrophy (SMA) often present with muscle contractures. Serial casting has been used in a variety of other peripheral nerve, muscle, and central nervous system disorders to improve knee and ankle r…
View article: Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review
Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review Open
View article: Enhancing Vietnamese VQA through Curriculum Learning on Raw and Augmented Text Representations
Enhancing Vietnamese VQA through Curriculum Learning on Raw and Augmented Text Representations Open
Visual Question Answering (VQA) is a multimodal task requiring reasoning across textual and visual inputs, which becomes particularly challenging in low-resource languages like Vietnamese due to linguistic variability and the lack of high-…
View article: Cardiopulmonary exercise testing as an integrative approach to explore physiological limitations in Duchenne muscular dystrophy
Cardiopulmonary exercise testing as an integrative approach to explore physiological limitations in Duchenne muscular dystrophy Open
Background: Cardiopulmonary exercise testing (CPET) is the gold-standard for quantification of peak oxygen uptake (VO 2 ) and cardiorespiratory and muscle responses to exercise. Its application to Duchenne muscular dystrophy (DMD) has been…
View article: SemViQA: A Semantic Question Answering System for Vietnamese Information Fact-Checking
SemViQA: A Semantic Question Answering System for Vietnamese Information Fact-Checking Open
The rise of misinformation, exacerbated by Large Language Models (LLMs) like GPT and Gemini, demands robust fact-checking solutions, especially for low-resource languages like Vietnamese. Existing methods struggle with semantic ambiguity, …
View article: Long‐term natural history in type <scp>II</scp> and <scp>III</scp> spinal muscular atrophy: a 4‐year international study on the Hammersmith Functional Motor Scale Expanded
Long‐term natural history in type <span>II</span> and <span>III</span> spinal muscular atrophy: a 4‐year international study on the Hammersmith Functional Motor Scale Expanded Open
Background and purpose Spinal muscular atrophy (SMA) is a genetic disorder caused by SMN1 gene mutations. Although studies on available disease‐modifying treatments have reported their efficacy and safety, long‐term natural history data ar…
View article: Video-based biomechanical analysis captures disease-specific movement signatures of different neuromuscular diseases
Video-based biomechanical analysis captures disease-specific movement signatures of different neuromuscular diseases Open
Background Assessing human movement is essential for diagnosing and monitoring movement-related conditions like neuromuscular disorders. Timed function tests (TFTs) are among the most widespread assessments due to their speed and simplicit…
View article: Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module
Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module Open
The Revised upper limb module (RULM) has been increasingly used in clinical trials and in clinical settings. The aim of this study was to use the 'shift analysis' to assess the patterns of lost or gained abilities for each item on the RULM…
View article: Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy
Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy Open
View article: Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study
Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study Open
Background and purpose At 12 months in the phase 2 TOPAZ study, treatment with apitegromab was associated with both an improved motor function in patients with Type 2 or 3 spinal muscular atrophy (SMA) and with a favorable safety profile. …
View article: Patients’ Perceptions of Nusinersen Effects According to Their Responder Status
Patients’ Perceptions of Nusinersen Effects According to Their Responder Status Open
Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a disease-modifying therapy (DMT) are often classified as responders or non-responders based on the attainment of a specific improvement threshold on valida…
View article: Patients’ Perceptions of Nusinersen Effects according to Their Responder Status
Patients’ Perceptions of Nusinersen Effects according to Their Responder Status Open
Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a dis-ease-modifying therapy (DMT) are often classified as responders or non-responders based on at-tainment of a specific improvement threshold on validate…
View article: JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam Open
View article: Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study Open
Background and purpose Spinal muscular atrophy (SMA) is a rare and progressive neuromuscular disorder with varying severity levels. The aim of the study was to calculate minimal clinically important difference (MCID), minimal detectable ch…
View article: Targeted Stimulation of the Sensory Afferents Improves Motoneuron Function in Humans With Spinal Muscular Atrophy
Targeted Stimulation of the Sensory Afferents Improves Motoneuron Function in Humans With Spinal Muscular Atrophy Open
Spinal Muscular Atrophy (SMA) is an inherited neurodegenerative disease causing motoneuron dysfunction, muscle weakness and early mortality1,2. Three therapies can slow disease progression enabling people to survive albeit with …
View article: Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3 Open
Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor function is assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS). …
View article: TARGETED STIMULATION OF THE SENSORY AFFERENTS IMPROVES MOTONEURON FUNCTION IN HUMANS WITH A DEGENERATIVE MOTONEURON DISEASE
TARGETED STIMULATION OF THE SENSORY AFFERENTS IMPROVES MOTONEURON FUNCTION IN HUMANS WITH A DEGENERATIVE MOTONEURON DISEASE Open
SUMMARY Spinal Muscular Atrophy (SMA) is an inherited neurodegenerative disease causing motoneuron dysfunction, muscle weakness and early mortality 1,2 . Three therapies can slow disease progression enabling people to survive albeit with l…
View article: Safety and Efficacy of Apitegromab in Patients With Spinal Muscular Atrophy Types 2 and 3
Safety and Efficacy of Apitegromab in Patients With Spinal Muscular Atrophy Types 2 and 3 Open
This study provides Class III evidence that apitegromab improves motor function in later-onset types 2 and 3 spinal muscular atrophy.
View article: Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA)
Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA) Open
Assessing endurance in non-ambulatory individuals with Spinal Muscular Atrophy (SMA) has been challenging due to limited evaluation tools. The Assisted 6-Minute Cycling Test (A6MCT) is an upper limb ergometer assessment used in other neuro…