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340 results on '"Mallaret M"'

1. Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009–2019)

Author

Adams, D., Cintas, P., Solé, G., Tard, C., Labeyrie, C., Echaniz-Laguna, A., Cauquil, C., Pereon, Y., Magy, L., Morales, R. Juntas, Antoine, J.C., Lagrange, E., Petiot, P., Mallaret, M., Francou, B., Guiochon-Mantel, A., Coste, A., Demarcq, O., Geffroy, C., Famelart, V., Rudant, J, Bartoli, M, Donal, E., Lairez, O., Eicher, J.C., Kharoubi, M., Oghina, S., Trochu, J.N., Inamo, J., Habib, G., Roubille, F., Hagège, A., Morio, F., Cariou, E., Adda, J., Slama, M.S., Charron, P., Algalarrondo, V., Damy, T., and Attarian, S.

Published
2024
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4. Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

Author

Gebus, O., Montaut, S., Monga, B., Wirth, T., Cheraud, C., Alves Do Rego, C., Zinchenko, I., Carré, G., Hamdaoui, M., Hautecloque, G., Nguyen-Them, L., Lannes, B., Chanson, J. B., Lagha-Boukbiza, O., Fleury, M. C., Devys, D., Nicolas, G., Rudolf, G., Bereau, M., Mallaret, M., Renaud, M., Acquaviva, C., Koenig, M., Koob, M., Kremer, S., Namer, I. J., Cazeneuve, C., Echaniz-Laguna, A., Tranchant, C., and Anheim, Mathieu

Published
2017
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7. OTHER NMDs

Author

Perrin, A., primary, Morales, R. Juntas, additional, Chapon, F., additional, Thèze, C., additional, Lacourt, D., additional, Pégeot, P., additional, Uro-Coste, E., additional, Giovannini, D., additional, Leboucq, N., additional, Mallaret, M., additional, Rigau, V., additional, Gaudon, K., additional, Richard, P., additional, Koenig, M., additional, Métay, C., additional, and Cossée, M., additional

Published
2021
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13. Guillain-Barré syndrome related to SARS-CoV-2 infection

Author

Bigaut, K. (Kévin), Mallaret, M. (Martial), Baloglu, S. (Seyyid), Nemoz, B. (Benjamin), Morand, P. (Patrice), Baicry, F. (Florent), Godon, A. (Alexandre), Voulleminot, P. (Paul), Kremer, L. (Laurent), Chanson, J. (Jean-Baptiste), and De Sèze, J. (Jérôme)

Subjects
Sciences du Vivant [q-bio]/Médecine humaine et pathologie
Published
2020

22. Evaluation of a new packaging process for non-autoclavable endoscopes: results for the first 100 microbiological samples

Author

Minebois, C., Saviuc, P., Shum, J., Tuvignon, P., Pelloux, I., Brenier-Pinchart, P., Landelle, Caroline, Mallaret, M.-R., Neuropsycho-pharmacologie expérimentale, Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Techniques pour l'Evaluation et la Modélisation des Actions de la Santé (TIMC-IMAG-ThEMAS), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Centre Hospitalier Universitaire [Grenoble] (CHU), and Landelle, Caroline

Subjects
[SDV] Life Sciences [q-bio], [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV]Life Sciences [q-bio], [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2017

25. Vaccins contre les rotavirus : quelques précisions sur les circonstances du non remboursement (en réponse à l’article « Info vaccins » de Cohen R. et al.)

Author

Vial T, Jonville-Bera Ap, pour l’Association française des centres régionaux de pharmacovigilance, C. Sgro, and Mallaret M

Subjects
0301 basic medicine, 03 medical and health sciences, 0302 clinical medicine, business.industry, 030106 microbiology, Pediatrics, Perinatology and Child Health, Medicine, 030212 general & internal medicine, business, Humanities
Published
2016

26. Caractéristiques des médecins inclus dans l’étude ESUB-MG (Efficacité d’un outil d’évaluation des consommations de substances pour la prise en charge des patients sous buprénorphine en médecine générale)

Author

Dupouy, Julie, Lapeyre-Mestre, Maryse, Authier, N., Binder, Philippe, Di Patrizio, Paolo, Gentile, G., Kahn, J.P., Laporte, Catherine, Letrilliart, Laurent, Mallaret, M., Maynié, Christine, Micallef, J, Oustric, Stéphane, Perault-Pochat, M.C., Di Patrizio, Paolo, and Université de Lorraine (UL)

Subjects
[SDV.EE.SANT]Life Sciences [q-bio]/Ecology, environment/Health, [SDV.EE.SANT] Life Sciences [q-bio]/Ecology, environment/Health, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2017

34. Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO1O Mutations: Delineation and Genotype-Phenotype Correlation Study

Author

Renaud, M., Anheim, Mathieu, Kamsteeg, Erik-Jan, Mallaret, M., Koenig, M., Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Strasbourg, Département de Neurologie, CHU Strasbourg-Hopital Civil, Radboud University Medical Center [Nijmegen], Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, and Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Abstract

International audience; IMPORTANCE: ANO10 mutations have been reported to cause a novel form of autosomal recessive cerebellar ataxia (ARCA). Our objective was to report 9 ataxic patients carrying 8 novel ANO10 mutations to improve the delineation of this form of ARCA and provide genotype-phenotype correlation.OBSERVATIONS: The ANO10 gene has been sequenced in 186 consecutive patients with ARCA. The detailed phenotype of patients with ANO10 mutations was investigated and compared with the 12 previously reported cases. The mean age at onset was 33 years (range, 17-43 years), and the disease progression was slow. Corticospinal tract signs were frequent, including extensor plantar reflexes and/or diffuse tendon reflexes and/or spasticity. No patient in our series had peripheral neuropathy. Magnetic resonance imaging of the brains of our patients revealed marked cerebellar atrophy. The most frequent mutation, a mononucleotide expansion from a polyA repeat tract (c.132dupA) that causes protein truncation, was never observed in homozygosity. Only 2 truncating mutations were reported in homozygosity, one of which (c.1150-1151del) was associated with juvenile or adolescent onset and mental retardation, whereas we show that the presence of at least 1 missense or in-frame mutation is associated with adult onset and slow progression.CONCLUSIONS AND RELEVANCE: An ANO10 mutation is responsible for ARCA that is mainly characterized by cerebellar atrophy and lack of peripheral neuropathy. We therefore suggest naming this entity autosomal recessive cerebellar ataxia type 3 (ARCA3).

Published
2014

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