Pascale De Lonlay (Pascale de Lonlay)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 8

Top Topics

Diffusion Weighted Imaging

Intellectual Disability

Systemic Sclerosis

Top Venues

Neurology. Genetics

The Journal of experimental medicine

Orphanet journal of rare diseases

This page only lists publications with an associated author ORCID identifier.

Publications

Agnes Rotig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat, Magalie Barth, Léna Damaj, Nolwenn Laborde, Marie-Thérèse Abi-Warde, Brigitte Chabrol, Pascale De Lonlay, Isabelle Desguerre, Alice Goldenberg, Emmanuel Gonzales, Emmanuel Jacquemin, Patrizia Amati-Bonneau, Dominique Bonneau, Véronique Abadie, Chrystèle Bonnemains, Pierre Broue, Anne De Saint-Martin, Philippe Durand, Alain Fouilhoux, Bertrand Isidor, Marianne Jaroussie, Guillaume Jedraszak, Hélène Maurey, Karine Mention, Sylvie S Odent, Laurent Pasquier, Christelle Rougeot-Jung, Cyril Gitiaux, Charles-Joris Roux, Nathalie Boddaert, Arnold Munnich, Manuel Schiff
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency. Neurology. Genetics 10 (4) (2024)
Charles-Joris Roux, Claire-Marine Dufeu-Berat, Marie Hully, Agnes Rotig, Manuel Schiff, Pascale De Lonlay, Mélodie Aubart, Marianne Alison, Marianne Jaroussie, Raphaël Levy, Volodia Dangouloff-Ros, Giulia Barcia, Isabelle Desguerre, Arnold Munnich, Cyril Gitiaux, Nathalie Boddaert
Polyradiculoneuritis on MRI: An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy. Neurology 102 (11) (2024)
Agnes Rotig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat, Magalie Barth, Léna Damaj, Nolwenn Laborde, Marie-Thérèse Abi-Warde, Brigitte Chabrol, Pascale De Lonlay, Isabelle Desguerre, Alice Goldenberg, Emmanuel Gonzales, Emmanuel Jacquemin, Patrizia Amati-Bonneau, Dominique Bonneau, Véronique Abadie, Chrystèle Bonnemains, Pierre Broue, Anne De Saint-Martin, Philippe Durand, Alain Fouilhoux, Bertrand Isidor, Marianne Jaroussie, Guillaume Jedraszak, Hélène Maurey, Karine Mention, Sylvie S Odent, Laurent Pasquier, Christelle Rougeot-Jung, Cyril Gitiaux, Charles-Joris Roux, Nathalie Boddaert, Arnold Munnich, Manuel Schiff
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency. Neurology. Genetics 10 (4) (2024)
Charles-Joris Roux, Claire-Marine Dufeu-Berat, Marie Hully, Agnes Rotig, Manuel Schiff, Pascale De Lonlay, Mélodie Aubart, Marianne Alison, Marianne Jaroussie, Raphaël Levy, Volodia Dangouloff-Ros, Giulia Barcia, Isabelle Desguerre, Arnold Munnich, Cyril Gitiaux, Nathalie Boddaert
Polyradiculoneuritis on MRI: An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy. Neurology 102 (11) (2024)
Aurore Curie, Laurence Lion-François, Vassili Valayannopoulos, Nathalie Perreton, Marie Gavanon, Nathalie Touil, Amandine Brun-Laurisse, Fahra Gheurbi, Marion Buchy, Hulya Halep, David Cheillan, Catherine Mercier, Anaïs Brassier, Béatrice Desnous, Behrouz Kassai, Pascale De Lonlay, Vincent Des Portes
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ( SLC6A8 ). Neurology 102 (8) (2024)
Aurore Curie, Laurence Lion-François, Vassili Valayannopoulos, Nathalie Perreton, Marie Gavanon, Nathalie Touil, Amandine Brun-Laurisse, Fahra Gheurbi, Marion Buchy, Hulya Halep, David Cheillan, Catherine Mercier, Anaïs Brassier, Béatrice Desnous, Behrouz Kassai, Pascale De Lonlay, Vincent Des Portes
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ( SLC6A8 ). Neurology 102 (8) (2024)
Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Thérèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale De Lonlay, Anaïs Brassier
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up. Orphanet journal of rare diseases 16 (1) (2021)
Alice Lepelley, Erika Della Mina, Erika Van Nieuwenhove, Lise Waumans, Sylvie Fraitag, Gillian I Rice, Ashish Dhir, Marie-Louise Frémond, Mathieu Paul Rodero, Luis Seabra, Edwin Carter, Christine Bodemer, Daniela Buhas, Bert Callewaert, Pascale De Lonlay, Lien De Somer, David A Dyment, Fran Faes, Lucy Grove, Simon Holden, Marie Hully, Manju A Kurian, Hugh J Mcmillan, Kristin Suetens, Henna Tyynismaa, Stéphanie Chhun, Timothy Wai, Carine Wouters, Brigitte Bader-Meunier, Yanick J Crow
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A. The Journal of experimental medicine 218 (10) (2021)