Jesse G. Thoene

Jesse G. Thoene

Medical Genetics | Pediatrics

1540 E Hospital Dr
Floor 6 Reception C
Ann Arbor, MI 48109

Last Updated: 09/26/2026

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Found 15 publications

Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.

Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.

Journal: Nature reviews. Nephrology

Published: May 14, 2026

Hypothesis: Taurine therapy of nephropathic cystinosis may correct the deficiencies of cysteamine therapy.

Hypothesis: Taurine therapy of nephropathic cystinosis may correct the deficiencies of cysteamine therapy.

Journal: Molecular genetics and metabolism reports

Published: January 05, 2025

ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.

ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.

Journal: The Journal of clinical investigation

Published: February 13, 2023

In vitro activity of cysteamine against SARS-CoV-2 variants.

In vitro activity of cysteamine against SARS-CoV-2 variants.

Journal: Molecular genetics and metabolism

Published: April 01, 2022

Programmed Cell Death in Cystinosis.

Programmed Cell Death in Cystinosis.

Journal: Cells

Published: October 26, 2021

Microvesicle delivery of a lysosomal transport protein to ex vivo rabbit cornea.

Microvesicle delivery of a lysosomal transport protein to ex vivo rabbit cornea.

Journal: Molecular genetics and metabolism reports

Published: February 20, 2020

Myopathy and Less Frequent Complications of Cystinosis.

Myopathy and Less Frequent Complications of Cystinosis.

Journal: The Journal of pediatrics

Published: March 28, 2017

Introduction to "Extra-Renal Complications of Cystinosis".

Introduction to "Extra-Renal Complications of Cystinosis".

Journal: The Journal of pediatrics

Published: March 28, 2017

Conclusions to the Supplement, "Extra-Renal Complications of Cystinosis".

Conclusions to the Supplement, "Extra-Renal Complications of Cystinosis".

Journal: The Journal of pediatrics

Published: March 28, 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Journal: Brain : a journal of neurology

Published: November 08, 2016

Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

Journal: Kidney international

Published: December 31, 2015

In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cells.

In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cells.

Journal: Molecular genetics and metabolism

Published: January 07, 2013

Showing 1-12 of 15

Last Updated: 09/26/2026