Joshua L Bonkowsky
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Explore the profile of Joshua L Bonkowsky including associated specialties, affiliations and a list of published articles.
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Recent Articles
11.
Thorpe H, Pedersen B, Dietze M, Link N, Quinlan A, Bonkowsky J, et al.
bioRxiv
. 2024 Aug;
PMID: 39211166
Loss of function mutations in the X-linked gene lead to PIGA-CDG, an ultra-rare congenital disorder of glycosylation (CDG), typically presenting with seizures, hypotonia, and neurodevelopmental delay. We identified two brothers...
12.
Bonkowsky J, Healey B, Sacks N, McLin R, Cyr P, Sawyer E, et al.
Orphanet J Rare Dis
. 2024 Jul;
19(1):270.
PMID: 39020416
Background: Adrenomyeloneuropathy (AMN) is a neurodegenerative disease phenotype of X-linked adrenoleukodystrophy (ALD), resulting in progressive myeloneuropathy causing spastic paraparesis, sensory ataxia, and bowel/bladder symptoms. We conducted a retrospective cohort study...
13.
Van Haren K, Wilkes J, Moser A, Raymond G, Richardson T, Aubourg P, et al.
Ann Child Neurol Soc
. 2024 Jul;
1(2):155-161.
PMID: 38966781
Objectives: Approximately 40% of boys with X-linked adrenoleukodystrophy (ALD) develop inflammatory demyelinating brain lesions (cerebral ALD, cALD) and are at risk for death or severe disability. Risk factors for cALD...
14.
Adang L, Groeschel S, Grzyb C, DAiello R, Gavazzi F, Sherbini O, et al.
Mol Genet Metab
. 2024 Jul;
142(4):108521.
PMID: 38964050
Objective: Metachromatic leukodystrophy (MLD) is a rare neurodegenerative disorder. Emerging therapies are most effective in the presymptomatic phase, and thus defining this window is critical. We hypothesize that early development...
15.
Adang L, Bonkowsky J, Boelens J, Mallack E, Ahrens-Nicklas R, Bernat J, et al.
Cytotherapy
. 2024 Apr;
26(7):739-748.
PMID: 38613540
Metachromatic leukodystrophy (MLD) is a fatal, progressive neurodegenerative disorder caused by biallelic pathogenic mutations in the ARSA (Arylsulfatase A) gene. With the advent of presymptomatic diagnosis and the availability of...
16.
Herstine J, Chang P, Chornyy S, Stevenson T, Sunshine A, Nokhrina K, et al.
Mol Ther
. 2024 Mar;
32(6):1701-1720.
PMID: 38549375
Leukoencephalopathy with vanishing white matter (VWM) is a progressive incurable white matter disease that most commonly occurs in childhood and presents with ataxia, spasticity, neurological degeneration, seizures, and premature death....
17.
Adang L, Sevagamoorthy A, Sherbini O, Fraser J, Bonkowsky J, Gavazzi F, et al.
Mol Genet Metab
. 2024 Mar;
142(1):108453.
PMID: 38522179
Growing interest in therapeutic development for rare diseases necessitate a systematic approach to the collection and curation of natural history data that can be applied consistently across this group of...
18.
Raas Q, Wood A, Stevenson T, Swartwood S, Liu S, Kannan R, et al.
Front Pediatr
. 2024 Feb;
12:1326886.
PMID: 38357503
Background: Mitchell syndrome is a rare, neurodegenerative disease caused by an ACOX1 gain-of-function mutation (c.710A>G; p.N237S), with fewer than 20 reported cases. Affected patients present with leukodystrophy, seizures, and hearing...
19.
Witkamp D, Oudejans E, Hoogterp L, Hu-A-Ng G, Glaittli K, Stevenson T, et al.
Front Neurosci
. 2024 Feb;
18:1275744.
PMID: 38352041
Vanishing white matter (VWM) is a devastating autosomal recessive leukodystrophy, resulting in neurological deterioration and premature death, and without curative treatment. Pathogenic hypomorphic variants in subunits of the eukaryotic initiation...
20.
Tazin N, Stevenson T, Bonkowsky J, Gale B
Micromachines (Basel)
. 2024 Jan;
15(1).
PMID: 38258168
Zebrafish have emerged as a useful model for biomedical research and have been used in environmental toxicology studies. However, the presence of the chorion during the embryo stage limits cellular...