F. Renaldo

发表

E. Bertini, M. Elmaleh, A. Pichiecchio, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

M. Teichmann, O. Boespflug-Tanguy, C. Rousselle, 2018, Neurology: Genetics.

Surgical Outcome in Tuberous Sclerosis Complex: A Multicenter Survey

D. Madhavan, G. Cascino, O. Devinsky, 2007, Epilepsia.

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies

C. Bodemer, Y. Crow, S. Orcesi, 2021, Journal of Clinical Immunology.

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children

R. Boldrini, E. Bertini, R. Carrozzo, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.

A. Biraben, L. Valton, A. Vermersch, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia

M. Elmaleh, C. Drissi, O. Boespflug-Tanguy, 2019, Molecular genetics & genomic medicine.

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

M. Elmaleh, O. Boespflug-Tanguy, J. Masliah-planchon, 2015, BMC Medical Genetics.

MFN2, a new gene responsible for mitochondrial DNA depletion.

P. Amati‐Bonneau, P. Reynier, D. Rodriguez, 2012, Brain : a journal of neurology.

Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia

Y. Crow, J. Gleeson, D. Rodriguez, 2014, Neuropediatrics.

Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations

D. Rodriguez, O. Boespflug-Tanguy, J. Masliah-planchon, 2015, Neurology.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements

J. Andrieux, J. Gondry, S. Chantot-Bastaraud, 2015, American journal of medical genetics. Part A.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers

M. Elmaleh, S. Auvin, S. Costi, 2022, Journal of Clinical Immunology.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Jeffrey M. Weiss, Karynne E. Patterson, Gao T. Wang, 2016, American journal of human genetics.

SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation

A. Schlessinger, R. Helaers, R. Wevers, 2019, Annals of neurology.

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Isabella Moroni, John H Livingston, Odile Boespflug-Tanguy, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Tumor-like enlargement of the optic chiasm in an infant with Alexander disease

L. Hertz-Pannier, D. Pham‐Dinh, D. Rodriguez, 2009, Brain and Development.

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Y. Crow, Naoki Kitabayashi, N. Boddaert, 2018, The New England journal of medicine.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, Theodore G. Drivas, J. Constantino, 2023, Science advances.

Area Postrema Syndrome as the Initial Presentation of Alexander Disease

D. Rodriguez, F. Chalard, S. Valence, 2021, Neurology.

Dramatic efficacy of ofatumumab in refractory pediatric-onset AQP4-IgG neuromyelitis optica spectrum disorder

O. Boespflug-Tanguy, D. Germanaud, E. Maillart, 2020, Neurology: Neuroimmunology & Neuroinflammation.

Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1

J. Daire, M. Schiff, D. Doummar, 2021, American Journal of Neuroradiology.

Mortality and Neurologic Sequelae in Influenza-Associated Encephalopathy: Retrospective Multicenter PICU Cohort in France

I. Desguerre, J. Bergounioux, E. Javouhey, 2021, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.