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Mathilde Renaud

Showing results (41-50 of 66) with videos related to

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Annals of Neurology|May 27, 2023
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia PatientsAndreas Traschütz, Astrid D Adarmes-Gómez, Mathieu Anheim, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 22, 2015
Delayed-onset Friedreich's ataxia revisitedClaire Lecocq, Perrine Charles, Jean-Philippe Azulay, et al.
Journal of Neurology|January 8, 2021
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxiaJean-Marie Ravel, Mehdi Benkirane, Nadège Calmels, et al.
Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Neuroradiological findings in GAA-<i>FGF14</i> ataxia (SCA27B): more than cerebellar atrophyShihan Chen, Catherine Ashton, Rawan Sakalla, et al.
Neurology. Genetics|February 25, 2025
Involvement of the Superior Cerebellar Peduncles in GAA-<i>FGF14</i> AtaxiaShihan Chen, Catherine Ashton, Rawan Sakalla, et al.
Scientific Reports|June 15, 2023
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27BCéline Bonnet, David Pellerin, Virginie Roth, et al.
Human Mutation|August 17, 2016
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited AtaxiasCecilia Marelli, Claire Guissart, Cecile Hubsch, et al.
European Journal of Medical Genetics|September 15, 2023
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of FranceAllan Lançon, Amandine Beaudouin, Laetitia Lambert, et al.
Frontiers in Neurology|July 12, 2021
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar AtaxiasAndreas Traschütz, Selina Reich, Astrid D Adarmes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxiaMehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
Pageof 7

Showing results (41-50 of 66) with videos related to

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Pageof 7
Annals of Neurology|May 27, 2023
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia PatientsAndreas Traschütz, Astrid D Adarmes-Gómez, Mathieu Anheim, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 22, 2015
Delayed-onset Friedreich's ataxia revisitedClaire Lecocq, Perrine Charles, Jean-Philippe Azulay, et al.
Journal of Neurology|January 8, 2021
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxiaJean-Marie Ravel, Mehdi Benkirane, Nadège Calmels, et al.
Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Neuroradiological findings in GAA-<i>FGF14</i> ataxia (SCA27B): more than cerebellar atrophyShihan Chen, Catherine Ashton, Rawan Sakalla, et al.
Neurology. Genetics|February 25, 2025
Involvement of the Superior Cerebellar Peduncles in GAA-<i>FGF14</i> AtaxiaShihan Chen, Catherine Ashton, Rawan Sakalla, et al.
Scientific Reports|June 15, 2023
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27BCéline Bonnet, David Pellerin, Virginie Roth, et al.
Human Mutation|August 17, 2016
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited AtaxiasCecilia Marelli, Claire Guissart, Cecile Hubsch, et al.
European Journal of Medical Genetics|September 15, 2023
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of FranceAllan Lançon, Amandine Beaudouin, Laetitia Lambert, et al.
Frontiers in Neurology|July 12, 2021
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar AtaxiasAndreas Traschütz, Selina Reich, Astrid D Adarmes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxiaMehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
Pageof 7