Daniele Mandia

4PUBLICATIONS
8CO-AUTHORS
Characterisation of biological macromoleculesNeurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)
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Publications (4)

|Apr 27, 2026
Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall.

|Jan 08, 2026
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

Daniele Mandia, Metodi D Metodiev, Jean-François Benoist

|Sep 14, 2025
Motor Neuropathy in a Patient With Mitochondrial Disease and a Novel TTC19 Variant: An Underrecognized Phenotypic Feature.

Daniele Mandia, Charline Benoit, Tanya Stojkovic

|Jan 30, 2020
Natural History of Adult Patients with GM2 Gangliosidosis.

Marion Masingue, Louis Dufour, Timothée Lenglet

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Frequent Collaborators

2 joint publications

Yann Nadjar

1 joint publications

Marion Masingue

1 joint publications

Xavier Ayrignac

1 joint publications

Foudil Lamari