Pascale De Lonlay
6PUBLICATIONS
60CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (6)
Sort by Publication Date:
|Mar 13, 2026
Long-Term Follow-Up of Patients With Transaldolase Deficiency.M Scaglione, A Brassier, A Wiedemann
|Jul 08, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.Agnès Rötig, Pauline Gaignard, Giulia Barcia
|May 16, 2024
Polyradiculoneuritis on MRI: An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy.Charles-Joris Roux, Claire-Marine Dufeu-Berat, Marie Hully
|Mar 26, 2024
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).Aurore Curie, Laurence Lion-François, Vassili Valayannopoulos
|Dec 15, 2021
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.Tanguy Demaret, Florence Lacaille, Camille Wicker
|Aug 13, 2021
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.Alice Lepelley, Erika Della Mina, Erika Van Nieuwenhove
Pageof 1
Frequent Collaborators
3 joint publications
Manuel Schiff
3 joint publications
Cyril Gitiaux
2 joint publications
Isabelle Desguerre
2 joint publications
Agnes Rotig
2 joint publications
Nathalie Boddaert
2 joint publications
Charles-Joris Roux
1 joint publications
F Feillet
1 joint publications
Arnold Munnich
1 joint publications
Erika Van Nieuwenhove
1 joint publications
Lise Waumans
