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Your search keyword '"Guillaume Banneau"' showing total 2 results
Start Over Author "Guillaume Banneau" Journal neurogenetics
2 results on '"Guillaume Banneau"'

1. Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET

Author

Armand Hocquel, Jean-Marie Ravel, Laetitia Lambert, Céline Bonnet, Guillaume Banneau, Bophara Kol, Laurène Tissier, Lucie Hopes, Mylène Meyer, Céline Dillier, Maud Michaud, Arnaud Lardin, Anne-Laure Kaminsky, Emmanuelle Schmitt, Liang Liao, François Zhu, Bronner Myriam, Carine Bossenmeyer-Pourié, Antoine Verger, and Mathilde Renaud

Subjects
Cellular and Molecular Neuroscience, Genetics, Genetics (clinical)
Published
2022
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2. Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain

Author

Armand, Hocquel, Jean-Marie, Ravel, Laetitia, Lambert, Céline, Bonnet, Guillaume, Banneau, Bophara, Kol, Laurène, Tissier, Lucie, Hopes, Mylène, Meyer, Céline, Dillier, Maud, Michaud, Arnaud, Lardin, Anne-Laure, Kaminsky, Emmanuelle, Schmitt, Liang, Liao, François, Zhu, Bronner, Myriam, Carine, Bossenmeyer-Pourié, Antoine, Verger, and Mathilde, Renaud

Subjects
Phenotype, Spastic Paraplegia, Hereditary, Fluorodeoxyglucose F18, GTP-Binding Proteins, Small Fiber Neuropathy, DNA Mutational Analysis, Mutation, Humans, Membrane Proteins, Brain, Penetrance, Retrospective Studies, Pedigree
Abstract

ATL1-related spastic paraplegia SPG3A is a pure form of hereditary spastic paraplegia. Rare complex phenotypes have been described, but few data concerning cognitive evaluation or molecular imaging of these patients are available. We relate a retrospective collection of patients with SPG3A from the Neurology Department of Nancy University Hospital, France. For each patient were carried out a

Published
2022

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