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Cytomegalic parvalbumin neurons in fetal cases of hemimegalencephaly

Archive ouverte | Gelot, Antoinette‐bernabe | CCSD

International audience. Abstract Objective Mutations in genes of the mTOR pathway have been identified as a major cause of hemimegalencephaly (HMG), focal cortical dysplasia type II, and tuberous sclerosis, cortical...

Identification of a new splice site mutation in synaptotagmin-2 responsible for a severe and early presynaptic form of congenital myasthenic syndrome

Archive ouverte | Bauché, Stéphanie | CCSD

International audience. Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of inherited disorders caused by defective synaptic transmission at the neuromuscular junction (NMJ)...

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

Archive ouverte | Bauché, Stéphanie | CCSD

International audience. Objective To report the identification of 2 new homozygous recessive mutations in the synaptotagmin 2 ( SYT2 ) gene as the genetic cause of severe and early presynaptic forms of congenital my...

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