Maxime Cadieux-Dion

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An increasing number of genes predisposing to autism spectrum disorders (ASDs) has been identified, many of which are implicated in synaptic function. This 'synaptic autism pathway' notably includes disruption of SYN1 that is associated with epilepsy, autism and abnormal behavior in both human and mice models. Synapsins constitute a multigene family of(More)
IMPORTANCE The autosomal dominant spinocerebellar ataxias (SCAs) are a complex group of neurodegenerative disorders with significant genetic heterogeneity. Despite the identification of 20 SCA genes, the cause of the disorder in a significant proportion of families with SCA remains unexplained. In 1972, a French-Canadian family segregating a combination of(More)
OBJECTIVE To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery. METHODS Through establishment of an international consortium we pooled 47 unsolved cases regarded by referring centers as ANCL. Clinical and neuropathologic experts within the(More)
  • Eva Smith Andermann, Dahl Kr, Canafoglia L Hh, Andermann E Damiano, Morbin M, Bruni Ac +74 others
  • 2014
cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. in DEPDC5 cause familial focal epilepsy with variable foci. Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. A new locus for familial temporal lobe epilepsy on chromosome 3q. A recurrent mutation in DEPDC5 predisposes to focal(More)
Blood vessel-specific fluorescent transgenic mice are excellent tools to study the development of the vasculature and angiogenic processes. There is growing interest in the biological processes relevant to endothelial cells but limited tools exist to selectively evaluate subcellular functions of this cell type in vivo. Here, we report a novel transgenic(More)
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