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Raphael Schiffmann

8PUBLICATIONS

29CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)German languageFlight dynamicsNeurology and neuromuscular diseasesMetabolic medicine

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Publications (8)

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|Aug 02, 2025

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.

Shanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli

|May 27, 2024

Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP).

Raphael Schiffmann, Eugen Mengel, Mary Wallace

|Nov 06, 2023

Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease.

Paulina Dabrowska-Schlepp, Andreas Busch, Jin-Song Shen

|Oct 18, 2022

Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial.

Raphael Schiffmann, Timothy M Cox, Jean-François Dedieu

|Sep 30, 2020

Assessment of plasma lyso-Gb<sub>3</sub> for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease.

Daniel G Bichet, Johannes M Aerts, Christiane Auray-Blais

|Apr 04, 2020

The definition of neuronopathic Gaucher disease.

Raphael Schiffmann, Jeff Sevigny, Arndt Rolfs

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Frequent Collaborators

2 joint publications

Odile Boespflug-Tanguy

2 joint publications

Fanny Mochel

2 joint publications

Eugen Mengel

1 joint publications

L Saint-Val

1 joint publications

T Courtin

1 joint publications

P Charles

1 joint publications

C Verny

1 joint publications

M Catala

1 joint publications

Timothy M Cox

1 joint publications

Paulina Dabrowska-Schlepp

Frequent Collaborators

2 joint publications

Odile Boespflug-Tanguy

2 joint publications

Fanny Mochel

2 joint publications

Eugen Mengel

1 joint publications

L Saint-Val

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