Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Mathilde Renaud

Showing results (21-30 of 66) with videos related to

Pageof 7
Sort By:
Brain Communications|September 14, 2023
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patientsCatherine Ashton, Elisabetta Indelicato, David Pellerin, et al.
Molecular Nutrition & Food Research|September 6, 2023
Cross-Talk between miRNAs from the Dlk1-Dio3 Locus and Histone Methylation to Protect Male Cerebellum from Methyl Donor DeficiencyJeremy Willekens, Pauline Mosca, Nathan Burt-Oberecken, et al.
Journal of Neurology|December 12, 2024
How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control studyRaquel Pinheiro-Barbosa, Cheick Cissé, Paulo Bastos, et al.
Journal of Neurology|July 13, 2024
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3AAngélique Hamamie-Chaar, Mathilde Renaud, Pinar Gençpinar, et al.
Journal of Neurology|January 24, 2024
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?Thomas Wirth, Céline Bonnet, Clarisse Delvallée, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 1, 2026
Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric StudySalomé Puisieux, Elise Pourié, Céline Bonnet, et al.
American Journal of Medical Genetics. Part A|May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental DelayAlanna Strong, Caoimhe McKenna, Karen Stals, et al.
JAMA Neurology|August 5, 2014
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation studyMathilde Renaud, Mathieu Anheim, Erik-Jan Kamsteeg, et al.
Neurogenetics|July 5, 2022
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain <sup>18</sup>F-FDG PETArmand Hocquel, Jean-Marie Ravel, Laetitia Lambert, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 20, 2023
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B)Thomas Wirth, Guillemette Clément, Clarisse Delvallée, et al.
Pageof 7

Showing results (21-30 of 66) with videos related to

Sort By:
Pageof 7
Brain Communications|September 14, 2023
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patientsCatherine Ashton, Elisabetta Indelicato, David Pellerin, et al.
Molecular Nutrition & Food Research|September 6, 2023
Cross-Talk between miRNAs from the Dlk1-Dio3 Locus and Histone Methylation to Protect Male Cerebellum from Methyl Donor DeficiencyJeremy Willekens, Pauline Mosca, Nathan Burt-Oberecken, et al.
Journal of Neurology|December 12, 2024
How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control studyRaquel Pinheiro-Barbosa, Cheick Cissé, Paulo Bastos, et al.
Journal of Neurology|July 13, 2024
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3AAngélique Hamamie-Chaar, Mathilde Renaud, Pinar Gençpinar, et al.
Journal of Neurology|January 24, 2024
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?Thomas Wirth, Céline Bonnet, Clarisse Delvallée, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 1, 2026
Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric StudySalomé Puisieux, Elise Pourié, Céline Bonnet, et al.
American Journal of Medical Genetics. Part A|May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental DelayAlanna Strong, Caoimhe McKenna, Karen Stals, et al.
JAMA Neurology|August 5, 2014
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation studyMathilde Renaud, Mathieu Anheim, Erik-Jan Kamsteeg, et al.
Neurogenetics|July 5, 2022
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain <sup>18</sup>F-FDG PETArmand Hocquel, Jean-Marie Ravel, Laetitia Lambert, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 20, 2023
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B)Thomas Wirth, Guillemette Clément, Clarisse Delvallée, et al.
Pageof 7