Author

Frédérique Audic

Observed names: Audic Frédérique, Audic, Frederique, Audic, Frédérique, F. Audic, FREDERIQUE AUDIC, Frederique Audic, frédérique AUDIC

Observed institutions: Université de Tours, Hôpital Necker-Enfants Malades, Université de Bordeaux, Inserm, Aix-Marseille Université, Centre Hospitalier Universitaire de Lille, Assistance Publique Hôpitaux de Marseille, Centre de Recherche des Cordeliers, Centre Hospitalier Universitaire de Tours, Assistance Publique – Hôpitaux de Paris, Hôpital Roger Salengro, Hôpital Pellegrin, Pitié-Salpêtrière Hospital, Centre Hospitalier Régional Universitaire de Brest, Hôpital Raymond-Poincaré, Hôpital de la Timone, Centre de Génétique Médicale de Marseille

ORCID: 0000-0001-6055-9007

Observed ORCID: 0000-0001-6055-9007

OpenAlex ID: A5065546450

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

2020 · Frédérique Audic, Marta Gomez Garcia de la Banda, et al. · Orphanet Journal of Rare Diseases · 97

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A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

2019 · Emmanuelle Lagrue, Céline Dogan, et al. · Neurology · 83

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

2018 · Juliette Bacquet, Tanya Stojkovic, et al. · BMJ Open · 65

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Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis

2021 · Guilhem Solé, Stéphane Mathis, et al. · Neurology · 60

Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data

2021 · Raphaël Porcher, Isabelle Desguerre, et al. · European Heart Journal · 57

Recanalization Treatments for Pediatric Acute Ischemic Stroke in France

2022 · Manoëlle Kossorotoff, Basile Kerleroux, et al. · JAMA Network Open · 43

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Are morphological and structural MRI characteristics related to specific cognitive impairments in neurofibromatosis type 1 (NF1) children?

2020 · Eloïse Baudou, Federico Nemmi, et al. · European Journal of Paediatric Neurology · 41

Severe Phenotype in Patients with Large Deletions of NF1

2021 · Laurence Pacot, Dominique Vidaud, et al. · Cancers · 39

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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

2018 · Martin Krahn, Valérie Biancalana, et al. · European Journal of Human Genetics · 37

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Feedforward motor control in developmental dyslexia and developmental coordination disorder: Does comorbidity matter?

2018 · Fabien Cignetti, Marianne Vaugoyeau, et al. · Research in Developmental Disabilities · 29

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment

2024 · Isabelle Desguerre, Rémi Barrois, et al. · Orphanet Journal of Rare Diseases · 28

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Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis

2022 · Agathe Molimard, Cyril Gitiaux, et al. · Neurology · 28

Retrospective study of 75 children with peripheral inherited neuropathy: Genotype–phenotype correlations

2018 · C. Hoebeke, N. Bonello-Palot, et al. · Archives de Pédiatrie · 25

A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy

2023 · R. Barrois, C. Barnerias, et al. · Neuromuscular Disorders · 24

Spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease)

2020 · F. Audic, C. Barnerias · Archives de Pédiatrie · 22

Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type

2023 · frédérique AUDIC, Sonia M Dubois, et al. · Archives de Pédiatrie · 21

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Motor unit number index: A potential electrophysiological biomarker for pediatric spinal muscular atrophy

2021 · Christophe Boulay, Emilien Delmont, et al. · Muscle & Nerve · 20

French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)

2024 · Shahram Attarian, Sadia Beloribi-Djefaflia, et al. · Journal of Neurology · 18

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A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

2021 · Lucie Isoline Pisella, Sara Fernandes, et al. · Orphanet Journal of Rare Diseases · 16

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Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

2019 · J. Mortreux, J. Bacquet, et al. · Journal of Human Genetics · 16

Quick and sustained clinical response to MEK inhibitor I in a NF1 patient with neurofibromas

2018 · Honoré Papalia, Frédérique Audic, et al. · ecancermedicalscience · 15

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Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis: The French Experience.

2022 · Agathe Molimard, Cyril Gitiaux, et al. · PubMed · 9

Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population

2025 · Lorène Gerin, Juliette Ropars, et al. · Neurology Genetics · 8

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Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center

2023 · Victor Morel, Frédérique Audic, et al. · Frontiers in Genetics · 8

Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1

2025 · Juliette Ropars, Claude Cances, et al. · JAMA Network Open · 5

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Works count: 53

Citation count: 879

H-index: 18

I10-index: 22