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Mathieu Anheim

Showing results (181-190 of 189) with videos related to

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Ebiomedicine|December 27, 2023
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsJean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, et al.
Neurology|July 19, 2020
Neurologic and neuroimaging findings in patients with COVID-19: A retrospective multicenter studyStéphane Kremer, François Lersy, Mathieu Anheim, et al.
Nature Communications|March 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcificationsViorica Chelban, Henriette Aksnes, Reza Maroofian, et al.
American Journal of Human Genetics|June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxiasPaulina Cunha, Emilien Petit, Marie Coutelier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesMehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
Radiology|June 17, 2020
Brain MRI Findings in Severe COVID-19: A Retrospective Observational StudyStéphane Kremer, François Lersy, Jérome de Sèze, et al.
Annals of Neurology|July 1, 2025
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case SeriesSarah M Brooker, Maria Novelli, Robert Coukos, et al.
Brain : a Journal of Neurology|September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
Pageof 19

Showing results (181-190 of 189) with videos related to

Sort By:
Pageof 19
You have reached the last page of results.This site can display upto 189 results.
Ebiomedicine|December 27, 2023
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsJean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, et al.
Neurology|July 19, 2020
Neurologic and neuroimaging findings in patients with COVID-19: A retrospective multicenter studyStéphane Kremer, François Lersy, Mathieu Anheim, et al.
Nature Communications|March 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcificationsViorica Chelban, Henriette Aksnes, Reza Maroofian, et al.
American Journal of Human Genetics|June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxiasPaulina Cunha, Emilien Petit, Marie Coutelier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesMehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
Radiology|June 17, 2020
Brain MRI Findings in Severe COVID-19: A Retrospective Observational StudyStéphane Kremer, François Lersy, Jérome de Sèze, et al.
Annals of Neurology|July 1, 2025
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case SeriesSarah M Brooker, Maria Novelli, Robert Coukos, et al.
Brain : a Journal of Neurology|September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
Pageof 19