Zobrazeno 1 - 10
of 91
pro vyhledávání: '"Joel Victor Fluss"'
Autor:
Siv Fokstuen, Frédérique Sloan-Béna, Elissavet Stathaki, Frédéric Masclaux, Francesca Mattioli, Caterina Marconi, Konstantinos Varvagiannis, Russia Ha-Vinh Leuchter, Michel Guipponi, Anne Vannier, Jean-Louis Blouin, Philippe Extermann, Laure Lemmens, Sacha Laurent, Purificacion Mendez, Joel Victor Fluss, Marc Abramowicz, Eva Hammar
Publikováno v:
Clinical Genetics
Clinical genetics, Vol. 100, No 3 (2021) pp. 329-333
Clinical genetics, Vol. 100, No 3 (2021) pp. 329-333
Arthrogryposis describes the presence of multiple joint‐contractures. Clinical severity of this phenotype is variable, and more than 400 causative genes have been proposed. Among these, ERGIC1 is a recently reported candidate encoding a putative tr
Publikováno v:
Archives de Pédiatrie. 28:285-290
Objectives To examine the epidemiology of neonatal arterial ischemic stroke (NAIS) and the chronology of care from early reported manifestations to formal diagnosis obtained by imaging. To explore how parents experienced the sequence of events, their
Publikováno v:
Bulletin de l'Académie Nationale de Médecine. 205:490-498
Resume L’accident vasculaire cerebral (AVC) regroupe six categories nosologiques qui different par leurs causes et mecanismes, leur temporalite et mode de presentation clinique et l’evolution. Par definition, l’AVC neonatal – lui-meme divise
Autor:
Joel Victor Fluss, Meryle Laurent, Aude Molinard-Chenu, Alexandre Dayer, Michel Guipponi, Sacha Laurent
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 121-125 (2020)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol. 7, No 1 (2020) pp. 121-125
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol. 7, No 1 (2020) pp. 121-125
The combination of congenital bilateral perisylvian syndrome (CBPS) with lower motor neuron dysfunction remains unusual and suggests a potential common genetic insult affecting basic neurodevelopmental processes. Here we identify a putatively pathoge
Autor:
Joel Victor Fluss, Sebastian Grunt, Anne Tscherter, Christopher J. Newman, Christoph Kuenzle, Gian Paolo Ramelli, Peter Weber, Andreas Meyer-Heim, Sandra M. Hunziker, Claudia E. Kuehni, Stephanie Juenemann, Fabiën N. Belle
SUMMARYBACKGROUNDCerebral Palsy (CP) is a group of permanent disorders of movement and posture that follows injuries to the developing brain. It results in motor dysfunction and a wide variety of comorbidities like epilepsy, pain, speech, hearing and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d320e11f2374cd9185459f7967bd4848
https://doi.org/10.1101/2021.11.02.21265824
https://doi.org/10.1101/2021.11.02.21265824
Autor:
Joel Victor Fluss, Eva Hammar, Marc Abramowicz, Michel Guipponi, Anne Vannier, Philippe Extermann, Russia Ha-Vinh Leuchter, Frédérique Sloan-Béna, Frédéric Masclaux, Caterina Marconi, Laure Lemmens, Elissavet Stathaki, Purificacion Mendez, Francesca Mattioli, Sacha Laurent, Siv Fokstuen, Jean-Louis Blouin, Konstantinos Varvagiannis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e3cef2f3ccf250ad5bd4695039e9b07
https://doi.org/10.1111/cge.14004/v2/response1
https://doi.org/10.1111/cge.14004/v2/response1
Publikováno v:
European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, Elsevier, 2019, 23 (3), pp.368-383. ⟨10.1016/j.ejpn.2019.02.013⟩
European Journal of Paediatric Neurology, Elsevier, 2019, 23 (3), pp.368-383. ⟨10.1016/j.ejpn.2019.02.013⟩
International audience; With a birth-prevalence of 37-67/100,000 (mostly term-born), perinatal stroke encompasses distinct disease-states with diverse causality, mechanism, time of onset, mode of presentation and outcome. Neonatal primary haemorrhagi
Publikováno v:
Child's nervous system, Vol. 37, No 4 (2021) pp. 1035-1037
Autor:
Chong Ae Kim, Marwan Shinawi, Naomichi Matsumoto, Anya Revah-Politi, Julia Baptista, Halie J. May, Julie S. Cohen, Julia Rankin, Samantha Toy, Kwame Anyane-Yeboa, Michelle Primiano, Evan H. Baugh, David Goldstein, Richard E. Person, Constance Smith-Hicks, Louise Bier, Katherine W. Roche, Anna Chassevent, Yuri Uchiyama, Michel Guipponi, Joel Victor Fluss, Charles Conlon, Armand Bottani, Jaehoon Jeong, Vimla Aggarwal, Maria resa Te Carminho A. Rodrigues, Aida Telegrafi
Publikováno v:
Genet Med
Purpose In this study, we aimed to characterize the clinical phenotype of a SHANK1-related disorder and define the functional consequences of SHANK1 truncating variants. Methods Exome sequencing (ES) was performed for six individuals who presented wi
Autor:
Anna Sarkozy, Erik-Jan Kamsteeg, Mark Pfuhl, Nicol C. Voermans, Martin Rees, Corrie E. Erasmus, Hülya-Sevcan Daimagüler, Steven A. Moore, Rahul Phadke, Mark R. Holt, Rolf Schröder, Istvan Bodi, Carla Grosmann, Sebahattin Cirak, E. Matthews, Ay Lin Kho, Peter Van den Bergh, Christian Thiel, Shane McKee, Joel Victor Fluss, Roksana Nikoopour, Charu Deshpande, Jens Reimann, Emily C. Oates, Maria Elena Farrugia, Özkan Özdemir, Isabelle Richard, Cristina Domínguez-González, Chaminda Konersman, Ekkehard Wilichowski, Birgit Brandmeier, Atsushi Fukuzawa, Ana Ferreiro, Heinz Jungbluth, Ros Quinlivan, Sandya Tirupathi, Mathias Gautel, Gabriele Dekomien, Cheryl Longman, Miguel A Fernandez-Garcia, Francesco Muntoni, Michael G. Hanna, Elizabeth Wraige, Elke Hobbiebrunken, Sarah Grover
Publikováno v:
Acta Neuropathologica, 141, 431-453
Acta Neuropathologica, Vol. 141, no. 3, p. 431-453 (2021)
Acta Neuropathologica, 141, 3, pp. 431-453
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Acta Neuropathologica, Vol. 141, no. 3, p. 431-453 (2021)
Acta Neuropathologica, 141, 3, pp. 431-453
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Mutations in the sarcomeric protein titin, encoded byTTN, are emerging as a common cause of myopathies. The diagnosis of aTTN-related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and the pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50b0834b2069a16869cd3b6e7cc432f
http://hdl.handle.net/2066/231686
http://hdl.handle.net/2066/231686