Marc C. Patterson

Pediatric Neurology

200 1st St SW
Rochester, MN 55905

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 111 publications

Neurofilament light chain (NfL) as a surrogate outcome measure for GM2 gangliosidoses.

Neurofilament light chain (NfL) as a surrogate outcome measure for GM2 gangliosidoses.

Journal: Journal of neurology

Published: April 27, 2026

N-acetyl-L-leucine normalizes Transcription Factor EB activity by stereospecific bidirectional modulation in a HeLa cell model of Niemann-Pick disease type C.

N-acetyl-L-leucine normalizes Transcription Factor EB activity by stereospecific bidirectional modulation in a HeLa cell model of Niemann-Pick disease type C.

Journal: PloS one

Published: March 20, 2026

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

Journal: Journal of inherited metabolic disease

Published: October 31, 2025

Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.

Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.

Journal: Neurology

Published: June 13, 2025

Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action.

Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action.

Journal: Journal of child neurology

Published: April 23, 2025

Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action.

Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action.

Journal: Pediatric neurology

Published: February 22, 2025

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.

Journal: Molecular genetics and metabolism reports

Published: February 10, 2025

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Journal: Journal of neurology

Published: July 19, 2024

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.

Journal: Molecular genetics and metabolism

Published: April 15, 2024

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.

Journal: Cytotherapy

Published: December 22, 2023

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).

Journal: Orphanet journal of rare diseases

Published: December 18, 2023

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Journal: Human mutation

Published: November 30, 2023

Showing 1-12 of 111

Last Updated: 09/26/2026