• Publications
  • Influence
[Mitochondrial neurogastrointestinal encephalopathy disease].
Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal-recessive syndrome, resulting from mutations in the TYMP gene, located at 22q13. The mutation induces aExpand
  • 25
  • 4
  • PDF
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
Mitochondrial complex I (CI) deficiencies are causing debilitating neurological diseases, among which, the Leber Hereditary Optic Neuropathy and Leigh Syndrome are the most frequent. Here, weExpand
  • 30
  • 3
  • PDF
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation ofExpand
  • 21
  • 3
Anatomic Study Using Three-Dimensional Computed Tomographic Scan Measurement for Truncal Maxillary Nerve Blocks Via the Suprazygomatic Route in Infants
A maxillary nerve block using external anatomic landmarks is a safe regional anesthesia for adults. However, the classic approach to the nerve may be difficult in infants. To use this block inExpand
  • 28
  • 3
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1‐Related Neurological Disease
&NA; We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassedExpand
  • 18
  • 2
  • PDF
Partial acute transverse myelitis is a predictor of multiple sclerosis in children
Background: Acute transverse myelitis (ATM) in children is a rare and often severe disease for which there are few known prognostic factors, particularly the subsequent risk of multiple sclerosisExpand
  • 7
  • 2
  • PDF
Complications and follow up of subarachnoid hemorrhages.
Complications of subarachnoid hemorrhage are the major life threatening and functional components of the follow up of a ruptured aneurysm. Knowing how to identify these is a key challenge. They varyExpand
  • 12
  • 2
Classification and Pathogenic Models of Unintentional Postural Cranial Deformities in Infants: Plagiocephalies and Brachycephalies
Unintentional postural deformities of the skull have increased in a pseudoepidemic manner in the last 15 years. Although dorsal decubitus and prenatal risk factors can play a role in the genesis ofExpand
  • 18
  • 1
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction
OBJECTIVE OPA1 mutations are responsible for more than half of autosomal dominant optic atrophy (ADOA), a blinding disease affecting the retinal ganglion neurons. In most patients the clinicalExpand
  • 18
  • 1
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
RORα, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait caused by neurodegeneration of cerebellarExpand
  • 17
  • 1
  • PDF