Get started
Author

Claudia Ravelli

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
2021 · Eugenio Mercuri, Nicolas Deconinck, et al. · The Lancet Neurology · 229
Highlighting the Dystonic Phenotype Related to GNAO1
2022 · Thomas Wirth, Giacomo Garone, et al. · Movement Disorders · 59
PDF
PFMG2025–integrating genomic medicine into the national healthcare system in France
2025 · Caroline Abadie, Aldja Abderrahmane, et al. · The Lancet Regional Health - Europe · 57
PDF
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features
2021 · Xi Luo, Kelly Schoch, et al. · Human Molecular Genetics · 29
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
2021 · Linyan Meng, Pirjo Isohanni, et al. · Annals of Neurology · 25
PDF
Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies
2024 · Jana Domínguez Carral, Carola Reinhard, et al. · Frontiers in Neurology · 23
Monoamine neurotransmitters and movement disorders in children and adults
2018 · D. Doummar, F. Moussa, et al. · Revue Neurologique · 23
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
2023 · Reza Maroofian, Rauan Kaiyrzhanov, et al. · Brain · 21
PDF
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome
2023 · Fanny Mochel, Domitille Gras, et al. · Neurology · 13
PDF
Childhood‐onset progressive dystonia associated with pathogenic truncating variants in CHD8
2021 · Diane Doummar, Marco Treven, et al. · Annals of Clinical and Translational Neurology · 13
PDF
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes
2024 · Ugo Sorrentino, Sylvia Boesch, et al. · Journal of Neurology · 12
PDF
Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
2024 · Patrick R. Blackburn, Frédéric Ebstein, et al. · Annals of Neurology · 11
Tremor-like subcortical myoclonus in STXBP1 encephalopathy
2021 · Anna Loussouarn, Diane Doummar, et al. · European Journal of Paediatric Neurology · 11
Neurodevelopmental outcome of Italian preterm ELBW infants: an eleven years single center cohort
2022 · Camilla Caporali, Stefania Longo, et al. · ˜The œItalian Journal of Pediatrics/Italian journal of pediatrics · 10
PDF
Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia
2025 · Floriane Quazza, Florence Riant, et al. · Parkinsonism & Related Disorders · 9
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
2023 · Patrick R. Blackburn, Frédéric Ebstein, et al. · medRxiv · 9
PDF
Near-Infrared Spectroscopy Monitoring, Superior Vena Cava Flow, and Neurodevelopmental Outcome at 2 years in a Cohort of Very Low-Birth-Weight Infants
2016 · Rosa Cerbo, Simona Orcesi, et al. · American Journal of Perinatology · 9
Choice of compound, dosage, and management of side effects for long-term corticosteroid treatment in Duchenne muscular dystrophy: Guidelines from the Neuromuscular Commission of the French Society of Pediatric Neurology
2024 · Stéphanie Fontaine Carbonnel, Ivana Dabaj, et al. · Archives de Pédiatrie · 6
Bilateral Globus Pallidus Deep Brain Stimulation Improves Motor Function in ADCY5 ‐Related Disorder
2026 · Moritz Thiel, Katerina Bernardi, et al. · Movement Disorders · 5
International Registry of NKX2‐1 ‐Related Disorders: Clinical, Genetic, and Imaging Perspectives
2026 · Laia Nou‐Fontanet, Claudia Ravelli, et al. · Movement Disorders · 5
Updated results of Transpher B: multicenter, single-dose, phase 1/2 clinical trial of ABO-101 for Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)
2021 · Maria de Castro, Kevin Flanigan, et al. · Molecular Genetics and Metabolism · 4
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
2026 · Cyril Mignot, Matthildi Athina Papathanasiou Terzi, et al. · Movement Disorders · 2
STARDEV Study: Neurodevelopmental Trajectory and Long‐Term Outcomes of Patients with Startle Disease/Hyperekplexia
2025 · Diane Pina, Agathe Roubertie, et al. · Movement Disorders Clinical Practice · 2
PDF
French virtual multidisciplinary team meeting for pediatric movement disorders (PMD-vMDT): a three-year survey
2026 · Marie-Céline François-Heude, Bérénice Lecardonnel, et al. · Frontiers in Neurology · 1
PDF
Deep brain stimulation in patients with mixed movement disorders linked to ADCY5
2025 · E. Retailleau, N. Dorison, et al. · Revue Neurologique · 1
Works count: 34
Citation count: 590
H-index: 11
I10-index: 14
Year
Topic
Type