Julie Perrier

Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

Derek Neilson, Mark D. Adams, Caitlin M.D. Orr et al. · The American Journal of Human Genetics · 2009 · 355 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

Mathieu Milh, Nadia Boutry‐Kryza, Julie Sutera-Sardo et al. · Orphanet Journal of Rare Diseases · 2013 · 92 citations · Full text

Medicine, Genetics, Neurology +17

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet et al. · Acta Neuropathologica · 2017 · 62 citations

Life Sciences, Genetics, Molecular Genetics +6

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

Sandra Mercier, Sébastien Küry, Emmanuelle Salort‐Campana et al. · Orphanet Journal of Rare Diseases · 2015 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Type <scp>I</scp> interferon potentiates <scp>T</scp>‐cell receptor mediated induction of <scp>IL</scp>‐10‐producing <scp>CD</scp>4⁺<scp>T</scp> cells

Béatrice Corre, Julie Perrier, Margueritte El Khouri et al. · European Journal of Immunology · 2013 · 31 citations

Life Sciences, Cell Biology, Immunology +17