Nicole Van Bergen

University of Melbourne

Australia

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Articles (9)

Year:

2024

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2024

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2023

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2022

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2022

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2022

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2022

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2020

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2020

Collaborators (4)

Alex Harris

University of Melbourne

AUSTRALIA

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Sebastian Lunke

AUSTRALIA

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david thorburn

Murdoch Childrens Research Institute

AUSTRALIA

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Anita Quigley

RMIT University

AUSTRALIA

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Nicole Van Bergen

Research Interests

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Articles (9)

Correction: Novel CDKL5 targets identified in human iPSC-derived neurons

Novel CDKL5 targets identified in human iPSC-derived neurons

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development

Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency

Reply: Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient

Cover, Volume 41, Issue 10

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )

Collaborators (4)

Alex Harris

Sebastian Lunke

david thorburn

Anita Quigley

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