Publications by authors named "Marc Patterson"

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Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action.
Kristina L Elvidge, Michelle A Farrar, John Christodoulou, Maina P Kava, Alexandra M Johnson, Marc C Patterson

J Child Neurol· August 2025

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Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.
Marc C Patterson, Uma Ramaswami, Aimee Donald, Tomas Foltan, Matthias Gautschi

Neurology· July 2025

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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.
Eugen Mengel, Marc C Patterson, Rosalia M Da Riol, Mireia Del Toro, Federica Deodato

Mol Genet Metab Rep· June 2025

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Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano, Peter Witters, Anna Cechova, Marc C Patterson

Hum Mutat· April 2025

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Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action.
Kristina L Elvidge, Michelle A Farrar, John Christodoulou, Maina P Kava, Alexandra M Johnson, Marc C Patterson

Pediatr Neurol· March 2025

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A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).
Bénédicte Héron, Spyros Batzios, Eugen Mengel, Roberto Giugliani, Marc Patterson

Orphanet J Rare Dis· December 2024

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Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.
Julien Park, Tatiana Bremova-Ertl, Marion Brands, Tomas Foltan, Matthias Gautschi, Marc Patterson

J Neurol· October 2024

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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Christina Lam, Fernando Scaglia, Gerard T Berry, Austin Larson, Kyriakie Sarafoglou, Marc C Patterson

Mol Genet Metab· August 2024

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Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Laura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, Eric Mallack, Rebecca Ahrens-Nicklas, Marc C Patterson

Cytotherapy· July 2024

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Progressive encephalopathy after routine 4-month immunizations in a patient with NAXD genetic variant.
Marissa Cepress, Ethan Grund, Tomas Leng, Marc Patterson, Mariya Saify

Am J Med Genet A· May 2024

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A case report of hemimegalencephaly with super-refractory status epilepticus and brain atrophy associated with NPRL3 gene mutation.
Alejandra Vasquez, Kai J Miller, Paul E Youssef, Duygu Selcen, Marc C Patterson

Seizure· March 2024

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Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Karthik Muthusamy, Judit M Perez-Ortiz, Anna N Ligezka, Ruqaiah Altassan, Christin Johnsen, Marc C Patterson

Genet Med· February 2024

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Risk and potential of ChatGPT in scientific publishing.
Verena Peters, Matthias Baumgartner, Sean Froese, Eva Morava, Marc Patterson

J Inherit Metab Dis· November 2023

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Guidelines in the JIMD: Evidence-based practice for inherited metabolic disease.
Shamima Rahman, Marc Patterson, Verena Peters, Eva Morava, Johannes Zschocke

J Inherit Metab Dis· July 2023

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Current directions in tau research: Highlights from Tau 2020.
Claire Sexton, Heather Snyder, Dirk Beher, Adam L Boxer, Pat Brannelly, Marc C Patterson

Alzheimers Dement· May 2022

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Lost in translation-Challenges in drug development for inherited metabolic diseases.
Robin H Lachmann, Marc C Patterson, Sandra Sirrs

J Inherit Metab Dis· May 2022

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Quo vadis now: Beyond genomics to an era of personalised medicine.
Shamima Rahman, Matthias Baumgartner, Eva Morava, Marc Patterson, Verena Peters

J Inherit Metab Dis· March 2022

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Hematopoietic cell transplantation for sialidosis type I.
Ashish O Gupta, Marc C Patterson, Tim Wood, Julie B Eisengart, Paul J Orchard

Mol Genet Metab Rep· March 2022

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Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Shaun C Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Marc C Patterson

Orphanet J Rare Dis· February 2022

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Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
Eugen Mengel, Marc C Patterson, Rosalia M Da Riol, Mireia Del Toro, Federica Deodato

J Inherit Metab Dis· November 2021

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International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study.
William Evans, Marc Patterson, Frances Platt, Christina Guldberg, Toni Mathieson

Orphanet J Rare Dis· November 2021

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Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective.
Eugen Mengel, Marc C Patterson, Michael Chladek, Christina Guldberg, Christine Í Dali

Orphanet J Rare Dis· November 2021

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Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Anna Čechová, Tomáš Honzík, Andrew C Edmondson, Can Ficicioglu, Mercedes Serrano, Marc Patterson

Mol Genet Metab· August 2021

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Acetylation turns leucine into a drug by membrane transporter switching.
Grant C Churchill, Michael Strupp, Cailley Factor, Tatiana Bremova-Ertl, Mallory Factor, Marc C Patterson

Sci Rep· August 2021

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