Author

J. Sampson

2 papers indexed here

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Review Aug 2026

Clinicopathologic mismatch in young-onset parkinsonism: Multiple system atrophy masquerading as a neurotransmitter synthesis disorder.

BACKGROUND Multiple system atrophy (MSA) is a progressive adult-onset synucleinopathy that remains difficult to diagnose clinically, particularly in younger patients and during early disease stages. Brainstem nuclei degeneration resulting in reduced monoamines in cerebrospinal fluid (CSF) analysis may further complicat...

J. Newman, Jin Kyung Kim, Jeffrey J. Nirschl et al. · Clinical Neuropathology · 0 citations

Open access Aug 2026

Generation of two induced pluripotent stem cell lines from Fabry disease patients carrying GLA mutations

Fabry disease is a rare genetic disease caused by loss-of-function in the GLA gene. This gene encodes the lysosomal enzyme α-galactosidase A (α-Gal A). A deficiency of α-Gal A results in the globotriaosylceramide buildup throughout the major organs, which is associated with increased mortality from cardiac disease in p...

Debarun Patra, David G. T. Cabrera, Xiaochun Yang et al. · Stem Cell Research · 0 citations