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Giulia Coarelli

Showing results (51-60 of 72) with videos related to

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Brain : a Journal of Neurology|January 4, 2022
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegiaJean-Loup Méreaux, Guillaume Banneau, Mélanie Papin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2022
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4Livia Parodi, Mathieu Barbier, Maxime Jacoupy, et al.
The Lancet. Neurology|January 22, 2022
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trialGiulia Coarelli, Anna Heinzmann, Claire Ewenczyk, et al.
Genes|June 26, 2026
Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar AtaxiaSeval Kılıç, Kerem Esmen, Jean-Loup Méreaux, et al.
Brain : a Journal of Neurology|April 23, 2021
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxiaAdriana P Rebelo, Ilse Eidhof, Vivian P Cintra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2022
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, et al.
Brain : a Journal of Neurology|December 20, 2021
Motor neuron pathology in CANVAS due to RFC1 expansionsVincent Huin, Giulia Coarelli, Clément Guemy, et al.
Neurology|August 12, 2024
Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 CarriersGiulia Coarelli, Charlotte Dubec-Fleury, Emilien Petit, et al.
Brain : a Journal of Neurology|April 27, 2017
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathiesMarie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, et al.
Neurogenetics|January 24, 2021
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlationsJean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, et al.
Pageof 8

Showing results (51-60 of 72) with videos related to

Sort By:
Pageof 8
Brain : a Journal of Neurology|January 4, 2022
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegiaJean-Loup Méreaux, Guillaume Banneau, Mélanie Papin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2022
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4Livia Parodi, Mathieu Barbier, Maxime Jacoupy, et al.
The Lancet. Neurology|January 22, 2022
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trialGiulia Coarelli, Anna Heinzmann, Claire Ewenczyk, et al.
Genes|June 26, 2026
Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar AtaxiaSeval Kılıç, Kerem Esmen, Jean-Loup Méreaux, et al.
Brain : a Journal of Neurology|April 23, 2021
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxiaAdriana P Rebelo, Ilse Eidhof, Vivian P Cintra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2022
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, et al.
Brain : a Journal of Neurology|December 20, 2021
Motor neuron pathology in CANVAS due to RFC1 expansionsVincent Huin, Giulia Coarelli, Clément Guemy, et al.
Neurology|August 12, 2024
Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 CarriersGiulia Coarelli, Charlotte Dubec-Fleury, Emilien Petit, et al.
Brain : a Journal of Neurology|April 27, 2017
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathiesMarie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, et al.
Neurogenetics|January 24, 2021
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlationsJean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, et al.
Pageof 8