Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases von Alsubhi, Sarah, Osterman, Bradley, Chrestian, Nicolas, Dubeau, François, Buhas, Daniela, Srour, Myriam

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Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report von Picher-Martel, Vincent, Labrie, Yvan, Rivest, Serge, Lace, Baiba, Chrestian, Nicolas

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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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Clinical and genetic study of hereditary spastic paraplegia in Canada von Chrestian, Nicolas, Dupré, Nicolas, Gan-Or, Ziv, Szuto, Anna, Chen, Shiyi, Venkitachalam, Anil, Brisson, Jean-Denis, Warman-Chardon, Jodi, Ahmed, Sohnee, Ashtiani, Setareh, MacDonald, Heather, Mohsin, Noreen, Mourabit-Amari, Karim, Provencher, Pierre, Boycott, Kym M, Stavropoulos, Dimitri J, Dion, Patrick A, Ray, Peter N, Suchowersky, Oksana, Rouleau, Guy A, Yoon, Grace

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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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Clinical and genetic study of autosomal recessive cerebellar ataxia type 1 von Dupré, Nicolas, Gros-Louis, François, Chrestian, Nicolas, Verreault, Steve, Brunet, Denis, de Verteuil, Danielle, Brais, Bernard, Bouchard, Jean-Pierre, Rouleau, Guy A.

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Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians von Dupré, Nicolas, Chrestian, Nicolas, Bouchard, Jean-Pierre, Rossignol, Elsa, Brunet, Denis, Sternberg, Damien, Brais, Bernard, Mathieu, Jean, Puymirat, Jack

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Response von Chrestian, Nicolas, Vajsar, Jiri

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The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature von Picher-Martel, Vincent, Brunet, Francis, Dupré, Nicolas, Chrestian, Nicolas

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A Broad Phenotype Related to a New POLG1 Mutation (P01.121) von Chrestian, Nicolas, Dupre, Nicolas

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Decreased dystrophin expression and elevated dystrophin-targeting miRNAs in anti-HMGCR immune-mediated necrotizing myopathy von Marmen, Maude B., Orfi, Zakaria, Dort, Junio, Proulx-Gauthier, Jean-Philippe, Chrestian, Nicolas, Dumont, Nicolas A., Ellezam, Benjamin

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Adrenal Insufficiency among Children treated with Hormonal Therapy for Infantile Spasms (1898) von Doré-Brabant, Gabrielle, Cyr-Brossard, Alexanne, Laflamme, Geneviève, Millette, Maude, Osterman, Bradley, Chrestian, Nicolas

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A First Case of Noonan Syndrome SOS2 related with Leukodystrophy, Disseminated Neurofibromas and Polyneuropathy (397) von Gauvreau, Claudie, Labrie, Yvan, Laframboise, Rachel, Lace, Baiba, Rivest, Serge, Chrestian, Nicolas

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Adrenal insufficiency among children treated with hormonal therapy for infantile spasms von Doré‐Brabant, Gabrielle, Laflamme, Geneviève, Millette, Maude, Osterman, Bradley, Chrestian, Nicolas

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Identification of Novel Smartphone-Based Digital Biomarkers to Characterize Lower and Upper Limb Motor Functions in Patients with Duchenne Muscular Dystrophy (P3-11.005) von Tachibana, Shotaro, Grange, Allison, Vincent-Genod, Dominique, Allara, Adeline, Hirel, Mathilde, Cances, Claude, Chrestian, Nicolas, Carment, Loïc, Feyt, Arthur, Gorin, Clarissa, Gormong, Cédric, Luna-Escalante, Juan Camilo, Petitmangin, Alexandre, Halbert, Cecile, Laugel, Vincent

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Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update von Chrestian, Nicolas, McMillan, Hugh, Poulin, Chantal, Campbell, Craig, Vajsar, Jiri

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Response von Chrestian, Nicolas, Vajsar, Jiri

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Response von Chrestian, Nicolas, Vajsar, Jiri

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71 Adrenal Insufficiency among Children treated with Hormonal Therapy for Infantile Spasms von Doré-Brabant, Gabrielle, Laflamme, Geneviève, Millette, Maude, Chrestian, Nicolas, Osterman, Bradley

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