Publications by authors named "Barbara Csanyi"

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Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2.
Siyamini Sivananthan, Laura Lee, Glenn Anderson, Barbara Csanyi, Ruth Williams

Brain Sci· January 2023

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Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses.
Katharina Iwan, Robert Clayton, Philippa Mills, Barbara Csanyi, Paul Gissen

iScience· February 2021

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DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Joanne Ng, Elisenda Cortès-Saladelafont, Lucia Abela, Pichet Termsarasab, Kshitij Mankad

Mov Disord· August 2020

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Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).
Penelope Hogarth, Manju A Kurian, Allison Gregory, Barbara Csányi, Tamara Zagustin

Mol Genet Metab· March 2017

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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
Merel S Ebberink, Barbara Csanyi, Wui K Chong, Simone Denis, Peter Sharp

J Med Genet· September 2010

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