Agathe Roubertie

Inserm — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

49h-index8.1kcitations274works3.02yr avg
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Research Topics

Metabolism and Genetic Disorders(47), Neurological disorders and treatments(37), Genetic Neurodegenerative Diseases(36), Epilepsy research and treatment(33), Genetics and Neurodevelopmental Disorders(33)

Publications268 total

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants
Heart Rhythm·2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase ( <scp>TH</scp> ) Deficiency
Journal of Inherited Metabolic Disease·2025Open Access
Diabetes mellitus characteristics in an international trial cohort with wolfram syndrome
Endocrine Abstracts·2025
A phase ii, international, randomised, double-blind, efficacy and safety trial of sodium valproate in paediatric and adult patients with wolfram syndrome
Endocrine Abstracts·2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia
Genetics in Medicine·2025· 1 cited
Childhood POLG-related disorders: Focus on polyradiculoneuropathy
Molecular Genetics and Metabolism·2025Open Access
Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort
European Journal of Paediatric Neurology·2025Open Access
<scp> <i>ADCY5</i> </scp> ‐Mosaic Variants: A Diagnosis Not to Be Missed
Movement Disorders Clinical Practice·2025· 1 citedOpen Access
The genetic and phenotypic spectrum of <i>GABRB1</i> -related disorders
Brain·2025· 2 citedOpen Access
French guidelines for the diagnosis and management of pure hereditary spastic paraplegia
Revue Neurologique·2025· 3 citedOpen Access
Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale
Molecular Genetics and Metabolism Reports·2025· 1 citedOpen Access
Novel Mutation at Cys225 in <i>GNAO1</i>‐Associated Developmental and Epileptic Encephalopathies: Clinical, Molecular, and Pharmacological Profiling of Case Studies
MedComm·2025· 2 citedOpen Access
Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review
Orphanet Journal of Rare Diseases·2025Open Access
<scp>STARDEV</scp> Study: Neurodevelopmental Trajectory and Long‐Term Outcomes of Patients with Startle Disease/Hyperekplexia
Movement Disorders Clinical Practice·2025Open Access
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
PubMed·2025· 9 citedOpen Access
Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial
BMJ Open·2025· 3 citedOpen Access
Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type
Heliyon·2025Open Access
Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairment
Brain Communications·2024· 2 citedOpen Access
<scp><i>KCNMA1‐Related</i></scp> Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal
Movement Disorders Clinical Practice·2024· 1 citedOpen Access
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia
Journal of Clinical Immunology·2024· 10 citedOpen Access
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Frequent Co-authors

Mathieu Milh(9), Diane Doummar(8), Nathalie Boddaert(7), Cyril Mignot(7), Gaëtan Lesca(7), Laurent Villard(7), François Rivier(7), Bernard Échenne(6), Nadia Bahi‐Buisson(6), Anne de Saint Martin(6), Marie Hully(5), Nathalie Villeneuve(5), Annick Toutain(5), Anna Kamińska(5), B. Chabrol(5), Vincent des Portes(5), Bénédicte Héron(5), Emmanuel Roze(5), Florence Riant(5), Gillian Rice(4)