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Author Details

Vincent J Carson
2018
13
9
PMIDPaper TitleJournal TitlePublished Year
37632133WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.Ann Clin Transl Neurol2023
35136953NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold.Brain2022
34606118Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy.Muscle and Nerve2022
32415770Chronic Meningitis Due to Prototheca zopfii in an Adolescent Girl.Journal of the Pediatric Infectious Diseases Society2021
32937143De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.Am J Hum Genet2020
31553814Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier.Hepatology2020
33069577Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.Molecular Genetics and Metabolism2020
30691927Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.Molecular Genetics and Metabolism2019
31625153GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations.Epilepsia2019
30304524Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.Hum Mol Genet2019
30134351Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy.Journal of Pediatric Orthopaedics2018
30188899Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.PLoS ONE2018
29931346TNNT1 nemaline myopathy: natural history and therapeutic frontier.Human Molecular Genetics2018
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