High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

Autor: Benkirane M; PhyMedExp, Institut Universitaire de Recherche Clinique, UMR_CNRS-Université de Montpellier, INSERM, CHU de Montpellier, Montpellier, France., Marelli C; Expert Centre for Neurogenetic Diseases and Adult Mitochondrial and Metabolic Diseases, Department of Neurology, Gui de Chauliac Hospital, CHU de Montpellier; Molecular Mechanisms of Neurodegenerative Dementia (MMDN), EPHE, INSERM, Université de Montpellier, Montpellier, France., Guissart C; PhyMedExp, Institut Universitaire de Recherche Clinique, UMR_CNRS-Université de Montpellier, INSERM, CHU de Montpellier, Montpellier, France., Roubertie A; Department of Pediatrics, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France.; INSERM, Institut des Neurosciences de Montpellier, Montpellier, France., Ollagnon E; Department of Medical Genetics and Reference Centre for Neurological and Neuromuscular Diseases, Croix-Rousse Hospital, Lyon, France., Choumert A; Department of Rare Neurological Diseases, CHU de la Réunion, Saint-Pierre, France., Fluchère F; Department of Neurology, La Timone Hospital, CHU de Marseille, Marseille, France., Magne FO; Department of Neurology, Purpan Hospital, CHU de Toulouse, Toulouse, France., Halleb Y; PhyMedExp, Institut Universitaire de Recherche Clinique, UMR_CNRS-Université de Montpellier, INSERM, CHU de Montpellier, Montpellier, France., Renaud M; Departments of Genetics and of Neurology, CHU de Nancy, Nancy, France., Larrieu L; PhyMedExp, Institut Universitaire de Recherche Clinique, UMR_CNRS-Université de Montpellier, INSERM, CHU de Montpellier, Montpellier, France., Baux D; PhyMedExp, Institut Universitaire de Recherche Clinique, UMR_CNRS-Université de Montpellier, INSERM, CHU de Montpellier, Montpellier, France., Patat O; Department of Clinical Genetics, Purpan Hospital, CHU de Toulouse, Toulouse, France., Bousquet I; Department of Medical Genetics and Reference Centre for Neurological and Neuromuscular Diseases, Croix-Rousse Hospital, Lyon, France., Ravel JM; Departments of Genetics and of Neurology, CHU de Nancy, Nancy, France., Cuntz-Shadfar D; Department of Pediatrics, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France., Sarret C; Department of Medical Genetics, Estaing Hospital, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Ayrignac X; Department of Neurology, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France., Rolland A; Department of Pediatrics, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France., Morales R; Department of Neurology, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France., Pointaux M; PhyMedExp, Institut Universitaire de Recherche Clinique, UMR_CNRS-Université de Montpellier, INSERM, CHU de Montpellier, Montpellier, France., Lieutard-Haag C; PhyMedExp, Institut Universitaire de Recherche Clinique, UMR_CNRS-Université de Montpellier, INSERM, CHU de Montpellier, Montpellier, France., Laurens B; Departement of Neurology, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Institute for Neurodegenerative Diseases, CNRS-UMR, Université de Bordeaux, Bordeaux, France., Tillikete C; Department of Neurology, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France., Bernard E; Department of Neurology, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France.; Institut NeuroMyoGène, INSERM-CNRS-UMR, Université Claude Bernard, Lyon, France., Mallaret M; Department of Functional Explorations of the Nervous System, CHU de Grenoble, Grenoble, France., Carra-Dallière C; Department of Neurology, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France., Tranchant C; Department of Neurology, Hautepierre Hospital, CHU de Strasbourg, Strasbourg, France., Meyer P; Department of Pediatrics, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France.; PhyMedExp, INSERM, University of Montpellier, CNRS, Montpellier, France., Damaj L; Department of Clinical Genetics, Centre de Référence Maladies Rares Anomalies du Développement, CHU de Rennes, Rennes, France., Pasquier L; Department of Clinical Genetics, Centre de Référence Maladies Rares Anomalies du Développement, CHU de Rennes, Rennes, France., Acquaviva C; Department of Hereditary Metabolic Diseases, Centre de Biologie et Pathologie Est, CHU de Lyon et UMR, Bron, France., Chaussenot A; Department of Medical Genetics, National Centre for Mitochondrial Diseases, CHU de Nice, Nice, France., Isidor B; Department of Medical Genetics, CHU de Nantes, Nantes, France., Nguyen K; Department of Neurology, La Timone Hospital, CHU de Marseille, Marseille, France., Camu W; Department of Neurology, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France., Eusebio A; Department of Neurology, La Timone Hospital, CHU de Marseille, Marseille, France., Carrière N; Department of Neurology, Roger Salengro Hospital, CHU de Lille, Lille, France., Riquet A; Department of Pediatrics Neurology, Roger Salengro Hospital, CHU de Lille, Lille, France., Thouvenot E; Department of Neurology, CHU de Nîmes, Nîmes, France., Gonzales V; Department of Neurology, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France., Carme E; Department of Pediatrics, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France., Attarian S; Department of Neurology, La Timone Hospital, CHU de Marseille, Marseille, France., Odent S; Department of Clinical Genetics, Centre de Référence Maladies Rares Anomalies du Développement, CHU de Rennes, Rennes, France., Castrioto A; Department of Functional Explorations of the Nervous System, CHU de Grenoble, Grenoble, France., Ewenczyk C; Neurogenetics Reference Centre, Hôpital de la Pitié-Salpêtrière, Assistance Publique- Hôpitaux de Paris (AP-HP), Paris, France., Charles P; Neurogenetics Reference Centre, Hôpital de la Pitié-Salpêtrière, Assistance Publique- Hôpitaux de Paris (AP-HP), Paris, France., Kremer L; Department of Neurology, La Timone Hospital, CHU de Marseille, Marseille, France., Sissaoui S; Department of Pediatrics, Hôpital Necker-Enfant Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Bahi-Buisson N; Department of Pediatrics, Hôpital Necker-Enfant Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Kaphan E; Department of Neurology, La Timone Hospital, CHU de Marseille, Marseille, France., Degardin A; Department of Neurology, Roger Salengro Hospital, CHU de Lille, Lille, France., Doray B; Department of Medical Genetics, CHU de la Réunion, Saint-Denis, France., Julia S; Department of Clinical Genetics, Purpan Hospital, CHU de Toulouse, Toulouse, France., Remerand G; Department of Neonatology, Estaing Hospital, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Fraix V; Department of Functional Explorations of the Nervous System, CHU de Grenoble, Grenoble, France., Haidar LA; Department of Pediatrics, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France., Lazaro L; Department of Pediatrics, CH de la Côte Basque-Bayonne, Bayonne, France., Laugel V; Department of Pediatrics, Hautepierre Hospital, CHU de Strasbourg, Strasbourg, France., Villega F; Department of Pediatrics, Groupe Hospitalier Pellegrin, CHU de Bordeaux; Institute for Interdisciplinary Neurosciences (IINS), CNRS -UMR, Université de Bordeaux, Bordeaux, France., Charlin C; Department of Rare Neurological Diseases, CHU de la Réunion, Saint-Pierre, France., Frismand S; Departments of Genetics and of Neurology, CHU de Nancy, Nancy, France., Moreira MC; Department of Pediatrics, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France., Witjas T; Department of Neurology, La Timone Hospital, CHU de Marseille, Marseille, France., Francannet C; Department of Medical Genetics, Estaing Hospital, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Walther-Louvier U; Department of Pediatrics, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France., Fradin M; Department of Clinical Genetics, Centre de Référence Maladies Rares Anomalies du Développement, CHU de Rennes, Rennes, France., Chabrol B; Departement of Pediatrics, La Timone Hospital, CHU de Marseille, Marseille, France., Fluss J; Pediatric Neurology Unit, Geneva Children's Hospital, Genève, Switzerland., Bieth E; Department of Clinical Genetics, Purpan Hospital, CHU de Toulouse, Toulouse, France., Castelnovo G; Department of Neurology, CHU de Nîmes, Nîmes, France., Vergnet S; Departement of Neurology, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Institute for Neurodegenerative Diseases, CNRS-UMR, Université de Bordeaux, Bordeaux, France., Meunier I; INSERM, Institut des Neurosciences de Montpellier, Montpellier, France.; Genetics of Sensory Diseases, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France., Verloes A; Federation of Genetics, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Brischoux-Boucher E; Department of Medical Genetics, Hôpital Saint-Jacques, CHU de Besançon, Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France., Coubes C; Department of Medical Genetics, Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France., Geneviève D; Department of Medical Genetics, Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France., Lebouc N; Department of Neuroradiology, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France., Azulay JP; Department of Neurology, La Timone Hospital, CHU de Marseille, Marseille, France., Anheim M; Department of Neurology, Hautepierre Hospital, CHU de Strasbourg, Strasbourg, France., Goizet C; Department of Medical Genetics, Pellegrin Hospital, CHU de Bordeaux, Bordeaux, France., Rivier F; Department of Pediatrics, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France.; PhyMedExp, INSERM, University of Montpellier, CNRS, Montpellier, France., Labauge P; Department of Neurology, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France., Calvas P; Department of Clinical Genetics, Purpan Hospital, CHU de Toulouse, Toulouse, France., Koenig M; PhyMedExp, Institut Universitaire de Recherche Clinique, UMR_CNRS-Université de Montpellier, INSERM, CHU de Montpellier, Montpellier, France. michel.koenig@inserm.fr.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2160-2170. Date of Electronic Publication: 2021 Jul 07.

[Polyneuropathies in vitamin B1 deficiency in Reunion and Mayotte islands in 70 patients of Maori and Comorian descent] : Polyneuropathies par hypovitaminose B1 aux îles de la Réunion et de Mayotte : à propos de 70 cas d'origine mahoraise et comorienne

Autor: Darcel, Françoise, Roussin, C., Vallat, Jean-Michel, Charlin, C., Tournebize, P., Doussiet, E.

Publikováno v: Bulletin de la Société de pathologie exotique
Bulletin de la Société de pathologie exotique, Masson, 2009, 102 (3), pp.167-72

International audience; Beriberi is an uncommon disorder related to thiamine deficiency. It is mainly found in underdeveloped countries among populations with poorly diversified diet, consisting largely of milled white cereals, a poor source of thiam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1b3dac93a2c6ce725ebbfe882812e737
https://hal-unilim.archives-ouvertes.fr/hal-00628388

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