Publications and Citation History
Publications based on Top Specialties
Types of Publication
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Preemptive dual therapy for children at risk for infantile‐onset spinal muscular atrophy (journal article) Annals of Clinical and Translational Neurology (2024). |
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history (journal article) Brain, volume 146, issue 9, pages 3826-3835 (2023). |
Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease (journal article) Neurology, volume 101, issue 7 (2023). |
Ocular Biomarkers of Riboflavin Transporter Deficiency (journal article) Journal of Neuro-Ophthalmology, volume 43, issue 1, pages 110-115 (2023). |
Macrophage depletion blocks congenital SARM1-dependent neuropathy (journal article) Journal of Clinical Investigation, volume 132, issue 23 (2022). |
Teaching NeuroImage: Basal Ganglia T1 Hyperintensity and SWI Signal Diabetic Striatopathy in an 18-Year-Old Man With Type 1 Diabetes Mellitus (journal article) Neurology, volume 97, issue 21 (2021). |
Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease (journal article) Neurology, volume 97, issue 17 (2021). |
Intracranial hemorrhage secondary to vitamin K deficiency in X-linked myotubular myopathy (journal article) Neuromuscular Disorders, volume 31, issue 7, pages 651-655 (2021). |
Neuromuscular Disorders, volume 31, issue 5, pages 385-396 (2021). |
AAP National Conference & Exhibition Meeting Abstracts (2021) |
An Unusual Cause of Acute Onset Movement Disorder In An Adolescent: A Rare Pediatric Presentation Of Chorea-Hyperglycemia-Basal Ganglia Syndrome (journal article) Pediatrics, volume 147, issue 3_MeetingAbstract, pages 849-850 (2021). |
DMD – THERAPY (journal article) Neuromuscular Disorders, volume 30 (2020). |
CONGENITAL MYOPATHIES 1 – NEMALINE (journal article) Neuromuscular Disorders, volume 30 (2020). |
Clinical Course in a Patient With Spinal Muscular Atrophy Type 0 Treated With Nusinersen and Onasemnogene Abeparvovec (journal article) Journal of Child Neurology, volume 35, issue 11, pages 717-723 (2020). |
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS (journal article) Annals of Clinical and Translational Neurology, volume 7, issue 9, pages 1713-1715 (2020). |
Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis (journal article) Archives of Disease in Childhood, volume 105, issue 4, pages 332-338 (2020). |
Improving Temporomandibular Range of Motion in People With Duchenne Muscular Dystrophy and Spinal Muscular Atrophy (journal article) The American Journal of Occupational Therapy, volume 74, issue 2, pages 7402205080p1-7402205080p10 (2020). |
Retrospective Analysis of Fractures and Factors Causing Ambulation Loss After Lower Limb Fractures in Duchenne Muscular Dystrophy (journal article) American Journal of Physical Medicine & Rehabilitation, volume 99, issue 9, pages 789-794 (2020). |
Team Approach: Management of Brachial Plexus Birth Injury (journal article) JBJS Reviews, volume 8, issue 7, pages e19.00200-e19.00200 (2020). |
Neurology Clinical Practice, volume 9, issue 5, pages 424-432 (2019). |