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Arnaud Bruneel

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Associate professor and senior clinical biochemist (MCU-PH)

INSERM

France

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Professors in France Professors in Immunology Immunology professors in France

Recent Grants

Grant: Close

Lab-in-Droplet for glycoprotein biomarker discovery: from device conception towards diagnostic applications - DropLab

Open Date: 2019-03-01

Close Date: 2021-03-01

Grant: Close

RADICAL-CDG: Repurposing medication, Advancing delivery, and Deploying Innovative Chemistry to Aid the Lives of patients with Congenital Disorders of Glycosylation

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Collaborators (13)

Antoine Civit

Medical Genetics Assistant Professor and Hospital Practitioner

Université d'Angers

FRANCE

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Frédéric ADAM

INSERM UMR 1236

FRANCE

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Matthew Wilson

Prof. dr.

KU Leuven

BELGIUM

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Christian Thiel

Head of CDG diagnostics and glycosylation research

Centre for Child and Adolescent Medicine Heidelberg

GERMANY

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ELIAS EL-HABR

Full Professor

Sorbonne Université

FRANCE

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Zsolt Csaba

Université Paris Cité

FRANCE

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Marie Théaudin

University of Lausanne

SWITZERLAND

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Katell Peoc'h

PU-PH, Full professor

Université Paris-Saclay

FRANCE

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Alexandre Kauskot

Chercheur/Researcher

INSERM

FRANCE

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Pierre Gressens

INSERM

FRANCE

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Anke Schumann

Clinical head of diagnostic metabolic laboratory

GERMANY

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Thierry Virolle

INSERM

FRANCE

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charline miot

Assistant Professor in Immunology

Université d'Angers

FRANCE

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Arnaud Bruneel

Research Interests

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Recent Grants

Articles (20)

Measurement of Red Blood Cell Sorbitol Dehydrogenase Activity for Fast Screening of SORD-Related Neuropathies

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

A founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic study

A biallelic variant inGORASP1causes a novel Golgipathy with glycosylation and mitotic defects

Nicotinamide metabolism reprogramming drives reversible senescence of glioblastoma cells

Oral D-mannose therapy during pregnancy in a woman with MPI-CDG: A case report and management review

ATP6AP2‐Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female

N-Glycan–Dependent Proinflammatory Effects of IgM in Anti-MAG Neuropathy

Expanding the phenotype of SORD mutation.

Diagnostic and Therapeutic Approaches in Congenital Disorders of Glycosylation

Biochemical diagnosis of congenital disorders of glycosylation.

Droplet Microfluidics with Capillary Electrophoresis for Glycan Biomarker Analysis

High CDT without clinical context: beware of the variant.

MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation

SORD‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages

"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management

Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant

Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake

Reversible atransferrinemia in a patient with chronic enteropathy: is transferrin mandatory for iron transport?

Collaborators (13)

Antoine Civit

Frédéric ADAM

Matthew Wilson

Christian Thiel

ELIAS EL-HABR

Zsolt Csaba

Marie Théaudin

Katell Peoc'h

Alexandre Kauskot

Pierre Gressens

Anke Schumann

Thierry Virolle

charline miot

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