author-photo

Joshua L. Bonkowsky

University of Utah
Primary Children's Hospital

135

Papers

2537

Citations

Citation Trend

Filter By

Papers (98) Sort By

Journal Conference Others

Hospitalization Burden and Incidence of Krabbe Disease.

2021 Journal of Child Neurology
Show All
- Source
- Cite
- Save
Citations (0)
Imaging Mimics: A Case of Nearly Mistaken Identity with Tumefactive Multiple Sclerosis and X-linked Adrenoleukodystrophy (5135)

2021 Neurology
Show All
- Source
- Cite
- Save
Citations (0)
Gene-targeted therapies in pediatric neurology: challenges and opportunities in diagnosis and delivery

2021 Pediatric Neurology
Show All
- Source
- Cite
- Save
Citations (1)
Pathogenic effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis

2021 Neurology
Show All
- Source
- Cite
- Save
Citations (3)
Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.

2021 Clinical Neurology and Neurosurgery
Show All
- Source
- Cite
- Save
Citations (1)
New insights into genetic white matter disorders.

2021 Developmental Medicine & Child Neurology
- Joshua L. Bonkowsky
Show All
- Source
- Cite
- Save
Citations (0)
The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder.

2021 EMBO Reports
Show All
- Source
- Cite
- Save
Citations (2)
National U.S. Patient and Transplant Data for Krabbe Disease

2021 Frontiers in Pediatrics
Show All
- Source
- Cite
- Save
Citations (0)
Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy

2021 Journal of Clinical Investigation
Show All
- Source
- Cite
- Save
Citations (3)
Biallelic pathogenic variants in LSM7 impair assembly of LSM complexes, impairs neurodevelopment in zebrafish and may be associated with an ultra rare neurodevelopmental and neurodegenerative disorder

2021
Show All
- Source
- Cite
- Save
Citations (1)