Publications by authors named "B Echenne"

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Cognitive impairment in children with CACNA1A mutations.
Veronique Humbertclaude, Florence Riant, Benjamin Krams, Valerie Zimmermann, Nicolas Nagot, Bernard Echenne

Dev Med Child Neurol· March 2020

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Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Bernard Echenne

J Med Genet· June 2018

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Insights in Developmental Coordination Disorder.
Marie Farmer, Bernard Echenne, Regen Drouin, M'hamed Bentourkia

Curr Pediatr Rev· February 2018

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AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?
Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Bernard Echenne

Neurol Genet· February 2018

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Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Manuel Schiff, Céline Roda, Marie-Lorraine Monin, Alina Arion, Magali Barth, Bernard Echenne

J Med Genet· December 2017

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