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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 26, 2007
Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal periodBernard Echenne, Aline Rideau, Agathe Roubertie, et al.
Pediatric Neurology|December 7, 2007
Cerebrospinal fluid analysis in the diagnosis and treatment of arterial ischemic strokeEmilie M Riou, Catherine Amlie-Lefond, Bernard Echenne, et al.
European Journal of Pediatrics|May 7, 2003
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiencyCarole Tonetti, Jean-Marie Saudubray, Bernard Echenne, et al.
Neuromuscular Disorders : NMD|July 16, 2002
Dose-dependent effect of individualized respiratory muscle training in children with Duchenne muscular dystrophyNathalie Topin, Stefan Matecki, Stephanie Le Bris, et al.
Neurology|December 1, 2012
Lack of progressive arteriopathy and stroke recurrence among children with cryptogenic strokeStephane Darteyre, Stephane Chabrier, Emilie Presles, et al.
Pediatric Neurology|November 1, 2006
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapyBernard Echenne, Agathe Roubertie, Birgit Assmann, et al.
Epilepsia|August 3, 2005
Antiglial cell autoantibodies and childhood epilepsy: a case reportAgathe Roubertie, Hassan Boukhaddaoui, Victor Sieso, et al.
Developmental Medicine and Child Neurology|May 23, 2019
Cognitive impairment in children with CACNA1A mutationsVeronique Humbertclaude, Florence Riant, Benjamin Krams, et al.
Neuromuscular Disorders : NMD|March 17, 2007
A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndromePascale Richard, Karen Gaudon, Emmanuel Fournier, et al.
American Journal of Human Genetics|May 7, 2002
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophyErcan Demir, Patrizia Sabatelli, Valérie Allamand, et al.
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