Marie‐France Rioux

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French–Canadian cohort

Pablo Iruzubieta, David Pellerin, Catherine Ashton, M. Renaud et autres

ca, es, us, gb, au, fr, de (code pays fourni par la source)

Phenotype Description and Lower Pathogenicity Threshold in a Large Cohort of SCA27B (P6-5.028)

Pablo Iruzubieta, Catherine Ashton, David Pellerin, Matt C. Danzi et autres

ca, us, fr (code pays fourni par la source)

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément et autres

fr, ca, gb, es, de, us (code pays fourni par la source)

Optimized testing strategy for the diagnosis of GAA- FGF14 ataxia

Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément et autres

fr, ca, gb, de, us (code pays fourni par la source)

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke, M. Renaud et autres

pl, gb, us, fr, au, es, ca, ch (code pays fourni par la source)

Genetic, structural and clinical analysis of spastic paraplegia 4

Parizad Varghaei, Mehrdad A. Estiar, Setareh Ashtiani, Simon Veyron et autres

ca (code pays fourni par la source)

Genetic, structural and clinical analysis of spastic paraplegia 4

Parizad Varghaei, Mehrdad A. Estiar, Setareh Ashtiani, Simon Veyron et autres

ca (code pays fourni par la source)

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami, Amytice Mirchi et autres

ca, id, nl, us, fr, es, rs, br, pt, gb, no, pl, de, tr, ch, au, cz, gr, it, ar, ie, at, dk, hu (code pays fourni par la source)

Triple A syndrome presenting as complicated hereditary spastic paraplegia

Etienne Léveillé, Hernán Gonorazky, Marie‐France Rioux, Lili‐Naz Hazrati et autres

ca (code pays fourni par la source)

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

Sébastien Lévesque, Christiane Auray‐Blais, Elaine Gravel, Michel Boutin et autres

ca, us (code pays fourni par la source)

Additional file 1: of Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

Sébastien Lévesque, Christiane Auray-Blais, Elaine Gravel, Michel Boutin et autres

Additional file 1: of Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

Sébastien Lévesque, Christiane Auray-Blais, Elaine Gravel, Michel Boutin et autres