Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism

Autor: Suzanne Lesage, Graziella Mangone, Christelle Tesson, Hélène Bertrand, Mustapha Benmahdjoub, Selma Kesraoui, Mohamed Arezki, Andrew Singleton, Jean-Christophe Corvol, Alexis Brice

Publikováno v: Frontiers in Neurology, Vol 12 (2021)

Autosomal recessive early-onset parkinsonism is clinically and genetically heterogeneous. Mutations of three genes, PRKN, PINK1, and DJ-1 cause pure phenotypes usually characterized by levodopa-responsive Parkinson's disease. By contrast, mutations o

Externí odkaz: https://doaj.org/article/3192991556b54f2d86a73c02e4800b12

Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort

Autor: Suzanne Lesage, Marion Houot, Graziella Mangone, Christelle Tesson, Hélène Bertrand, Sylvie Forlani, Mathieu Anheim, Christine Brefel-Courbon, Emmanuel Broussolle, Stéphane Thobois, Philippe Damier, Franck Durif, Emmanuel Roze, François Tison, David Grabli, Fabienne Ory-Magne, Bertrand Degos, François Viallet, Florence Cormier-Dequaire, Anne-Marie Ouvrard-Hernandez, Marie Vidailhet, Ebba Lohmann, Andrew Singleton, Jean-Christophe Corvol, Alexis Brice, for the French Parkinson disease Genetics Study Group(PDG)

Publikováno v: Frontiers in Neurology, Vol 11 (2020)

LRRK2, SNCA, and VPS35 are unequivocally associated with autosomal dominant Parkinson's disease (PD). We evaluated the prevalence of LRRK2, SNCA, and VPS35 mutations and associated clinical features in a large French multi-center cohort of PD patient

Externí odkaz: https://doaj.org/article/ab626b59f2644450b53b69ad6bb750ad

Understanding the g-tensors of perchlorotriphenylmethyl and Finland-type trityl radicals

Autor: Régis Guillot, Leandro C. Tabares, Paul Demay-Drouhard, H. Y. Vincent Ching, Clotilde Policar, Sun Un, Christophe Decroos, Hélène Bertrand, Yun Li

Publikováno v: Physical Chemistry Chemical Physics
Physical Chemistry Chemical Physics, Royal Society of Chemistry, 2020, ⟨10.1039/d0cp03626a⟩
Physical Chemistry Chemical Physics, 2020, ⟨10.1039/d0cp03626a⟩
Physical chemistry, chemical physics

International audience; The 285 GHz EPR spectra of perchlorotriphenylmethyl and tetrathiatriarylmethyl radicals in frozen solution have been accurately measured. The relationship between their molecular structures and their g-tensors has been investi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33490e5390b0dc1f02375d7769676182
https://doi.org/10.1039/d0cp03626a

Rhenium carbonyl complexes bearing methylated triphenylphosphonium cations as antibody-free mitochondria trackers for X-ray fluorescence imaging

Autor: How Chee Ong, Gabrielle Schanne, Lucas P. Henry, Andrea Somogyi, Kadda Medjoubi, Nicolas Delsuc, Felipe García, Clotilde Policar, Hélène Bertrand

Publikováno v: Inorganic Chemistry Frontiers
Inorganic Chemistry Frontiers, 2021, 8 (16), pp.3905-3915. ⟨10.1039/d1qi00542a⟩

Synchrotron Radiation X-ray Fluorescence (SXRF) imaging is a powerful technique for the visualization of metal complexes in biological systems. However, due to the lack of an endogenous elemental signature for mitochondria, probes for the localizatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f86db15d9c0f203b697e833ce1a1ff8a
https://hal.science/hal-03834592/document

Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism

Autor: Jean-Christophe Corvol, Andrew B. Singleton, Selma Kesraoui, Graziella Mangone, Hélène Bertrand, Mustapha Benmahdjoub, Alexis Brice, Mohamed Arezki, Suzanne Lesage, Christelle Tesson

Publikováno v: Frontiers in Neurology
Frontiers in Neurology, Frontiers, 2021, 12, pp.648457. ⟨10.3389/fneur.2021.648457⟩
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology, 2021, 12, pp.648457. ⟨10.3389/fneur.2021.648457⟩

Autosomal recessive early-onset parkinsonism is clinically and genetically heterogeneous. Mutations of three genes, PRKN, PINK1, and DJ-1 cause pure phenotypes usually characterized by levodopa-responsive Parkinson's disease. By contrast, mutations o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fc8611dac08283e0d116b1682a91a4f
http://europepmc.org/articles/PMC8027075