Zobrazeno 1 - 10
of 58
pro vyhledávání: '"André, Maues de Paula"'
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/c14a995b479046868d2975b78fcc1256
Autor:
Miguel Lopez-Cuina, Pierre-Olivier Fernagut, Marie-Hélène Canron, Anne Vital, Béatrice Lannes, André Maues De Paula, Nathalie Streichenberger, Dominique Guehl, Philippe Damier, Alexandre Eusebio, Jean-Luc Houeto, François Tison, Christine Tranchant, François Viallet, Tatiana Witjas, Stéphane Thobois, Wassilios G. Meissner
Publikováno v:
Neurobiology of Disease, Vol 118, Iss , Pp 155-160 (2018)
Slowly progressive, levodopa-responsive multiple system atrophy (MSA) may be misdiagnosed as Parkinson's disease (PD). Deep brain stimulation (DBS) is mostly ineffective in these patients and may even worsen the clinical course. Here we assessed whet
Externí odkaz:
https://doaj.org/article/f3663a0168b54928898c5793c76142d9
Autor:
Arthur Viodé, Clémence Fournier, Agnès Camuzat, François Fenaille, NeuroCEB Brain Bank, Morwena Latouche, Fanny Elahi, Isabelle Le Ber, Christophe Junot, Foudil Lamari, Vincent Anquetil, François Becher, Franck Letournel, Anne Vital, Françoise Chapon, Catherine Godfraind, Claude-Alain Maurage, Vincent Deramecourt, David Meyronnet, Nathalie Streichenberger, André Maues de Paula, Valérie Rigau, Fanny Vandenbos-Burel, Charles Duyckaerts, Danielle Seilhean, Véronique Sazdovitch, Serge Milin, Dan Christian Chiforeanu, Annie Laquerrière, Béatrice Lannes
Publikováno v:
Frontiers in Neuroscience, Vol 12 (2018)
Frontotemporal dementia (FTD) is a fatal neurodegenerative disease characterized by behavioral and language disorders. The main genetic cause of FTD is an intronic hexanucleotide repeat expansion (G4C2)n in the C9ORF72 gene. A loss of function of the
Externí odkaz:
https://doaj.org/article/cd19437b3505479386a248050a20e764
Autor:
Nicolas Macagno, Stéphane Fuentes, Gonzague de Pinieux, André Maues de Paula, Sébastien Salas, Jean-Camille Mattéi, Charlotte Dupuis, Romain Appay, Alain Aurias, Henry Dufour, Dominique Figarella-Branger, Corinne Bouvier
Publikováno v:
Case Reports in Pathology, Vol 2017 (2017)
Despite being one of the most frequent soft-tissue sarcomas, well-differentiated liposarcoma has never been reported near the spine. The authors present the case of a 67-year-old man with progressive history of back pain. Physical examination reveale
Externí odkaz:
https://doaj.org/article/1b014213341a406aa797d5858f0fb18d
Autor:
Samira Ait-El-Mkadem Saadi, Elsa Kaphan, Amaya Morales Jaurrieta, Konstantina Fragaki, Annabelle Chaussenot, Sylvie Bannwarth, André Maues De Paula, Véronique Paquis-Flucklinger, Cécile Rouzier
Publikováno v:
European journal of medical genetics. 65(12)
Biallelic rare variants in NARS2 that encode the mitochondrial asparaginyl-tRNA synthetase are associated with a wide spectrum of clinical phenotypes ranging from severe neurodegenerative disorders to isolated mitochondrial myopathy or deafness. To d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7e2264b8777802a9d9cf5c1338bf5b9
https://pubmed.ncbi.nlm.nih.gov/36252909
https://pubmed.ncbi.nlm.nih.gov/36252909
Autor:
Laurent Chiche, Jérôme Franques, Jean Pouget, André Maues De Paula, Stéphane Mathis, Shahram Attarian, Aude Marie Grapperon
Publikováno v:
Neurological Research. 41:569-576
Vitamin B12 (B12) has a fundamental role in both central and peripheral nervous system function at all ages. Neurologic manifestations may be the earliest and often the only manifestation of B12 deficiency. Mostly because of the poor sensitivity of m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bee09d78871a39e295c6b6206314c3bd
https://doi.org/10.1080/01616412.2019.1588490
https://doi.org/10.1080/01616412.2019.1588490
Autor:
Didier Scavarda, Nicolas André, André Maues De Paula, Nicolas Serratrice, Alice Faure, Nadine Girard
Publikováno v:
Child's Nervous System
Child's Nervous System, 2021, 37 (7), pp.2363--2367. ⟨10.1007/s00381-020-04894-y⟩
Child's Nervous System, 2021, 37 (7), pp.2363--2367. ⟨10.1007/s00381-020-04894-y⟩
Giant hypothalamic hamartomas (GHH) are rare neonatal intracerebral congenital malformations responsible for gelastic epilepsy and/or endocrine disturbances. Sacrococcygeal teratomas (SCT) are fetal neoplasms associated with perinatal morbidity and m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2898f889f0cd870580dfcc818a52331
https://hal.science/hal-03590340
https://hal.science/hal-03590340
Publikováno v:
Annales de Pathologie. 38:131-136
We report the case of a 15 years old teenage girl presenting with a primary amenorrhea and hypervirilisation symptoms. The clinical assessement found a 16cm wide heterogenous ovarian mass testosteronemia and alpha-foeto protein levels were increased.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f5db600d46c64417ea37fae2422f84f
https://doi.org/10.1016/j.annpat.2018.01.002
https://doi.org/10.1016/j.annpat.2018.01.002
Autor:
Marie-Dominique Piercecchi-Marti, Anne Jouvet, André Maues De Paula, David Meyronet, Clémence Delteil
Publikováno v:
Annales de Pathologie. 38:103-109
Resume Le syndrome de la mort inattendue du nourrisson (MIN) est defini selon la Haute Autorite de sante (HAS) comme « une mort survenant brutalement chez un nourrisson alors que rien, dans ses antecedents connus, ne pouvait le laisser prevoir ». I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c862bc5a65ab7d31eaa24f8b3b997a9d
https://doi.org/10.1016/j.annpat.2018.01.001
https://doi.org/10.1016/j.annpat.2018.01.001
Autor:
Aline Cano, Melissa Baravalle, Caroline Lacoste, Anne-Sophie Monnier, Alexandre Fabre, Marie Loosveld, Véronique Secq, Marie-Edith Coste, Catherine Badens, Patrice Bourgeois, Nicolas Lévy, Céline Roman, Violaine Bresson, André Maues De Paula, Cécile DeLeusse, Karine Bertaux, Clothilde Esteve, Clémence Delteil, Frederic Blanc
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, 2021, 64 (10), pp.104294. ⟨10.1016/j.ejmg.2021.104294⟩
European Journal of Medical Genetics, 2021, 64 (10), pp.104294. ⟨10.1016/j.ejmg.2021.104294⟩
Cytoplasmic aminoacyl-tRNA synthetases (ARSs) are emerging as a cause of numerous rare inherited diseases. Recently, biallelic variants in tyrosyl-tRNA synthetase 1 (YARS1) have been described in ten patients of three families with multi-systemic dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56bc4cb8564fa16dde90336caba19add
https://doi.org/10.1016/j.ejmg.2021.104294
https://doi.org/10.1016/j.ejmg.2021.104294