VincentJosephCarsonMD

PubMed

• 8 citations
  Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy.
  Vincent J Carson, Millie Young, Karlla W. Brigatti, Donna L. Robinson, Robert M. Reed, Jihee Sohn, Marco Petrillo, Wildon Farwell, Freeman Miller, Kevin A. Strauss> ;Muscle & Nerve. 2021 Oct 4
• 25 citations
  Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
  Kevin A. Strauss, Katie B. Williams, Vincent J Carson, Laura Poskitt, Lauren E. Bowser, Millie Young, Donna L. Robinson, Christine Hendrickson, Keturah Beiler, Cora M....> ;Molecular Genetics and Metabolism. 2020 Oct 4
• 11 citations
  De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
  Natalia Mendoza-Ferreira, Mert Karakaya, Nur Cengiz, Danique Beijer, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Nico Fuhrmann, Irmgard Hölker, Maximilian P. Thelen,...> ;American Journal of Human Genetics. 2020 Oct 1
• 17 citations
  Crigler-Najjar syndrome type 1: pathophysiology, natural history, and therapeutic frontier.
  Kevin A. Strauss, Charles E. Ahlfors, Kyle Soltys, George V. Mazareigos, Millie Young, Lauren E. Bowser, Michael D Fox, James E. Squires, Patrick J. McKiernan, Karlla ...> ;Hepatology. 2020 Jun 1
• 3 citations
  Chronic Meningitis Due to Prototheca zopfii in an Adolescent Girl
  Torsten Joerger, Salwa Sulieman, Vincent J Carson, Michael D Fox> ;Journal of the Pediatric Infectious Diseases Society. 2021 Apr 3
• 59 citations
  Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
  Kevin A. Strauss, Vincent J Carson, Kyle Soltys, Millie Young, Lauren E. Bowser, Erik G. Puffenberger, Karlla W. Brigatti, Katie B. Williams, Donna L. Robinson, Christ...> ;Molecular Genetics and Metabolism. 2020 Mar 1
• 39 citations
  GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations.
  Philip H. Iffland, Vincent J Carson, Angélique Bordey, Peter B. Crino> ;Epilepsia. 2019 Oct 17
• 16 citations
  Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
  Martinez, E., Katie B. Williams, Karlla W. Brigatti, Erik G. Puffenberger, Claudia Gonzaga-Jauregui, Laurie B. Griffin, Erick D Martinez, Olivia Wenger, Mark Yoder, Vi...> ;Human Molecular Genetics. 2019 Feb 15
• 23 citations
  Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
  Lauren E. Bowser, Millie Young, Olivia Wenger, Zineb Ammous, Karlla W. Brigatti, Vincent J Carson, Teresa Moser, James Deline, Kazuhiro Aoki, Thierry Morlet, Ethan M. ...> ;Molecular Genetics and Metabolism. 2019 Jan 21
• 38 citations
  Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal...
  Kevin A. Strauss, Vincent J Carson, Karlla W. Brigatti, Millie Young, Donna L. Robinson, Christine Hendrickson, Michael D Fox, Robert M. Reed, Erik G. Puffenberger, Wi...> ;Journal of Pediatric Orthopedics. 2018 Nov 1
• 27 citations
  TNNT1 nemaline myopathy: natural history and therapeutic frontier
  Michael D Fox, Vincent J Carson, Han-Zhong Feng, Michael W. Lawlor, John T. Gray, Karlla W. Brigatti, J P Jin, Kevin A. Strauss> ;Human Molecular Genetics. 2018 Sep 15
• 5 citations
  Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.
  Vincent J Carson, Erik G. Puffenberger, Lauren E. Bowser, Karlla W. Brigatti, Millie Young, Dominika Korulczyk, Ashlin S. Rodrigues, KaLynn K. Loeven, Kevin A. Strauss> ;Plos One. 2018 Sep 6
• 8 citations
  Successful Manual Aspiration Thrombectomy in a Pediatric Patient.
  Gregory M. Weiner, Rafey Feroze, Nitin Agarwal, David M. Panczykowski, William J. Ares, Ali Kooshkabadi, Dana D Cummings, Vincent Carson, Amin Aghaebrahim, Brian T. Ja...> ;Pediatric Neurology. 2016 Aug 1
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