A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy von Laflamme, Nathalie, Lace, Baiba, Thonta Setty, Samarth, Rioux, Nadie, Labrie, Yvan, Droit, Arnaud, Chrestian, Nicolas, Rivest, Serge

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Case Report: Two Families With HPDL Related Neurodegeneration von Micule, Ieva, Lace, Baiba, Wright, Nathan T, Chrestian, Nicolas, Strautmanis, Jurgis, Diriks, Mikus, Stavusis, Janis, Kidere, Dita, Kleina, Elfa, Zdanovica, Anna, Laflamme, Nataly, Rioux, Nadie, Setty, Samarth Thonta, Pajusalu, Sander, Droit, Arnaud, Lek, Monkol, Rivest, Serge, Inashkina, Inna

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A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy von Pal, Maitou, Lace, Baiba, Labrie, Yvan, Laflamme, Nathalie, Rioux, Nadie, Setty, Samarth Thonta, Dugas, Marc‐Andre, Gosselin, Louise, Droit, Arnaud, Chrestian, Nicolas, Rivest, Serge

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ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies von Lemire, Gabrielle, Ito, Yoko A., Marshall, Aren E., Chrestian, Nicolas, Stanley, Valentina, Brady, Lauren, Tarnopolsky, Mark, Curry, Cynthia J., Hartley, Taila, Mears, Wendy, Derksen, Alexa, Rioux, Nadie, Laflamme, Nataly, Hutchison, Harrol T., Pais, Lynn S., Zaki, Maha S., Sultan, Tipu, Dane, Adrie D., Gleeson, Joseph G., Vaz, Frédéric M., Kernohan, Kristin D., Bernard, Geneviève, Boycott, Kym M.

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Case Report: Two Families With HPDL Related Neurodegeneration von Micule, Ieva, Lace, Baiba, Wright, Nathan T, Chrestian, Nicolas, Strautmanis, Jurgis, Diriks, Mikus, Stavusis, Janis, Kidere, Dita, Kleina, Elfa, Zdanovica, Anna, Laflamme, Nataly, Rioux, Nadie, Setty, Samarth Thonta, Pajusalu, Sander, Droit, Arnaud, Lek, Monkol, Rivest, Serge, Inashkina, Inna

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