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Mathilde Renaud

Showing results (31-40 of 66) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|August 22, 2023
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset PhenotypesChloé Angelini, Christelle Marie Durand, Patricia Fergelot, et al.
Brain Communications|November 3, 2025
Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomographyRaphaël Miroglio, Armand Hocquel, Jean-Marie Ravel, et al.
Brain : a Journal of Neurology|July 27, 2022
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiologyMehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, et al.
Journal of Neurology|December 3, 2014
Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practiceMathilde Renaud, Julien Perriard, Sarah Coudray, et al.
Brain : a Journal of Neurology|December 27, 2013
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardationMartial Mallaret, Matthis Synofzik, Jaeho Lee, et al.
Biorxiv : the Preprint Server for Biology|July 10, 2023
A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locusDavid Pellerin, Giulia Del Gobbo, Madeline Couse, et al.
Journal of Neurology|September 20, 2025
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohortPablo Iruzubieta, David Pellerin, Catherine Ashton, et al.
Frontiers in Neurology|March 6, 2026
<i>CTNNB1-</i>related disorders: clinical and radiological contributions from a French cohortEline Chauvet-Piat, Marie-Céline François-Heude, Gaël Manes, et al.
Clinical Genetics|November 13, 2022
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three familiesAurélie Becker, Charlotte Felici, Laëtitia Lambert, et al.
Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.
Pageof 7

Showing results (31-40 of 66) with videos related to

Sort By:
Pageof 7
Movement Disorders : Official Journal of the Movement Disorder Society|August 22, 2023
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset PhenotypesChloé Angelini, Christelle Marie Durand, Patricia Fergelot, et al.
Brain Communications|November 3, 2025
Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomographyRaphaël Miroglio, Armand Hocquel, Jean-Marie Ravel, et al.
Brain : a Journal of Neurology|July 27, 2022
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiologyMehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, et al.
Journal of Neurology|December 3, 2014
Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practiceMathilde Renaud, Julien Perriard, Sarah Coudray, et al.
Brain : a Journal of Neurology|December 27, 2013
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardationMartial Mallaret, Matthis Synofzik, Jaeho Lee, et al.
Biorxiv : the Preprint Server for Biology|July 10, 2023
A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locusDavid Pellerin, Giulia Del Gobbo, Madeline Couse, et al.
Journal of Neurology|September 20, 2025
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohortPablo Iruzubieta, David Pellerin, Catherine Ashton, et al.
Frontiers in Neurology|March 6, 2026
<i>CTNNB1-</i>related disorders: clinical and radiological contributions from a French cohortEline Chauvet-Piat, Marie-Céline François-Heude, Gaël Manes, et al.
Clinical Genetics|November 13, 2022
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three familiesAurélie Becker, Charlotte Felici, Laëtitia Lambert, et al.
Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.
Pageof 7