Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Benoit, Rucheton"'
Autor:
Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait‐El‐Mkadem Saadi, Valérie Desquiret‐Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati‐Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean‐Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie‐Laure Martin‐Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva‐Bourdain, Cécile Pagan, Anne‐Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis‐Flucklinger, MitoDiag's Network Collaborators, Vincent Procaccio
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1478-1491 (2024)
Abstract Objective The objective of this study was to evaluate the implementation of NGS within the French mitochondrial network, MitoDiag, from targeted gene panels to whole exome sequencing (WES) or whole genome sequencing (WGS) focusing on mitocho
Externí odkaz:
https://doaj.org/article/e4307533a35a473a9b33fb23706ccfa7
Autor:
Walid Khrouf, Dario Saracino, Benoit Rucheton, Marion Houot, Fabienne Clot, Daisy Rinaldi, Joana Vitor, Marie Huynh, Evelyne Heng, Dimitri Schlemmer, Florence Pasquier, Vincent Deramecourt, Sophie Auriacombe, Carole Azuar, Richard Levy, Stéphanie Bombois, Claire Boutoleau-Brétonnière, Jérémie Pariente, Mira Didic, David Wallon, Frédérique Fluchère, Stéphane Auvin, Imen Ben Younes, Yann Nadjar, Alexis Brice, Bruno Dubois, Dominique Bonnefont-Rousselot, Isabelle Le Ber, Foudil Lamari
Publikováno v:
Neurobiology of Disease, Vol 181, Iss , Pp 106108- (2023)
GRN mutations are among the main genetic causes of frontotemporal dementia (FTD). Considering the progranulin involvement in lysosomal homeostasis, we aimed to evaluate if plasma lysosphingolipids (lysoSPL) are increased in GRN mutation carriers, and
Externí odkaz:
https://doaj.org/article/74d41b87d2e9459a8fa3e729c04253b6
Autor:
Constance Delaby, Olivier Bousiges, Damien Bouvier, Catherine Fillée, Anthony Fourier, Etienne Mondésert, Nicolas Nezry, Souheil Omar, Isabelle Quadrio, Benoit Rucheton, Susanna Schraen-Maschke, Vincent van Pesch, Stéphanie Vicca, Sylvain Lehmann, Aurelie Bedel
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
Neurological biomarkers are particularly valuable to clinicians as they can be used for diagnosis, prognosis, or response to treatment. This field of neurology has evolved considerably in recent years with the improvement of analytical methods, allow
Externí odkaz:
https://doaj.org/article/b931b35796fd4807bbef259aa2ce127f
Autor:
Benoit, Rucheton, Samir, Mesli, Boutin, Julian, Samuel, Amintas, Brigitte, Colombies, Dominique, Ducint, Isabelle, Redonnet-Vernhet
Publikováno v:
In Clinica Chimica Acta June 2019 493:148-155
Autor:
Marie-Lise Bats, Benoit Rucheton, Tara Fleur, Arthur Orieux, Clément Chemin, Sébastien Rubin, Brigitte Colombies, Arnaud Desclaux, Claire Rivoisy, Etienne Mériglier, Etienne Rivière, Alexandre Boyer, Didier Gruson, Isabelle Pellegrin, Pascale Trimoulet, Isabelle Garrigue, Rana Alkouri, Charles Dupin, François Moreau-Gaudry, Aurélie Bedel, Sandrine Dabernat
Publikováno v:
PLoS ONE, Vol 16, Iss 5, p e0250956 (2021)
Clinical and laboratory predictors of COVID-19 severity are now well described and combined to propose mortality or severity scores. However, they all necessitate saturable equipment such as scanners, or procedures difficult to implement such as bloo
Externí odkaz:
https://doaj.org/article/2a22f9729254448980bcec7a73447488
Autor:
Ariadna González-del Angel, Michela Bisciglia, Steven Vargas-Cañas, Francisca Fernandez-Valverde, Ekaterina Kazakova, Rosa Elena Escobar, Norma B. Romero, Claude Jardel, Benoit Rucheton, Tanya Stojkovic, Edoardo Malfatti
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Objectives: To report two novel DNA2 gene mutations causing early onset myopathy with cardiac involvement and late onset mitochondriopathy with rhabdomyolysis.Methods: We performed detailed clinical, muscle histopathology and molecular studies includ
Externí odkaz:
https://doaj.org/article/ff0650617e584faf986128ad246ff64e
Autor:
Aurélie Hanin, Jérôme Alexandre Denis, Valerio Frazzini, Louis Cousyn, Françoise Imbert-Bismut, Benoit Rucheton, Dominique Bonnefont-Rousselot, Clémence Marois, Virginie Lambrecq, Sophie Demeret, Vincent Navarro
Publikováno v:
Journal of Neurology. 269:3752-3760
Status epilepticus (SE) is a life-threatening prolonged epileptic seizure. A rapid diagnosis is fundamental to initiate antiepileptic treatment and to prevent the development of neurological sequels. Several serum and cerebrospinal fluid biomarkers h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f0e722b01a78ab56bf708ce448d60a
https://doi.org/10.1007/s00415-022-11004-2
https://doi.org/10.1007/s00415-022-11004-2
Autor:
Gorka Fernández-Eulate, Christophe Carreau, Jean-François Benoist, Foudil Lamari, Benoit Rucheton, Natalia Shor, Yann Nadjar
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:413-421
Neurometabolic diseases are a group of individually rare but numerous and heterogeneous genetic diseases best known to paediatricians. The more recently reported adult forms may present with phenotypes strikingly different from paediatric ones and ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f37bb7af7a6c4da3715294dceb96eae
https://doi.org/10.1136/jnnp-2021-328045
https://doi.org/10.1136/jnnp-2021-328045
Autor:
Constance, Delaby, Olivier, Bousiges, Damien, Bouvier, Catherine, Fillée, Anthony, Fourier, Étienne, Mondésert, Nicolas, Nezry, Souheil, Omar, Isabelle, Quadrio, Benoit, Rucheton, Susanna, Schraen-Maschke, Vincent, van Pesch, Stéphanie, Vicca, Sylvain, Lehmann, Aurélie, Bedel
Publikováno v:
Annales de biologie clinique. 80(5)
Neurological biomarkers are of great use for clinicians, as they can be used for numerous purposes: guiding clinical diagnosis, estimating prognosis, assessing disease stage and monitoring progression or response to treatment. This field of neurology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ccbd24c17194f2b49bc73ec0081cfdaa
https://pubmed.ncbi.nlm.nih.gov/36453742
https://pubmed.ncbi.nlm.nih.gov/36453742
Autor:
Constance, Delaby, Olivier, Bousiges, Damien, Bouvier, Catherine, Fillée, Anthony, Fourier, Étienne, Mondésert, Nicolas, Nezry, Souheil, Omar, Isabelle, Quadrio, Benoit, Rucheton, Susanna, Schraen-Maschke, Vincent, van Pesch, Stéphanie, Vicca, Sylvain, Lehmann, Aurélie, Bedel
Publikováno v:
Annales de biologie clinique. 80(5)
Neurofilaments (Nf) are proteins selectively expressed in the cytoskeleton of neurons, and their increase is a marker of neuronal damage. The potential utility of neurofilament light chain (NfL) has recently increased considerably, well beyond neurod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::38ee973863ee68c1d0b3e85385d29c5f
https://pubmed.ncbi.nlm.nih.gov/36453743
https://pubmed.ncbi.nlm.nih.gov/36453743