Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Bastien Roche"'
Autor:
Frédéric Lapostolle, Guillaume Dollet, Frédéric Adnet, Isabelle Vianu, Laurent Goix, Elodie Schneider, Julie Michel, Erick Chanzy, Tomislav Petrovic, Julia Berdah, Bastien Roche
Publikováno v:
Internal and Emergency Medicine
Clinical features of COVID-19 have been mostly described in hospitalized patients with and without ICU admission. Yet, up to 80% of patients are managed in an outpatient setting. This population is poorly documented. In France, health authorities rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89742341e7022118917d065a69ef02d0
https://pubmed.ncbi.nlm.nih.gov/32474850
https://pubmed.ncbi.nlm.nih.gov/32474850
Autor:
Bruno Pereira, Catherine Sarret, Anna Sontheimer, Jean-Jacques Lemaire, Odile Boespflug-Tanguy, Bastien Roche, Nadia Savy, Jerome Coste
Publikováno v:
Developmental Neuroscience. 40:301-311
Aims: We performed quantitative diffusion tensor imaging and brain tractography to distinguish clinical severity in a series of 35 patients with hypomyelinating PLP1-related disorders classified using the Motor Developmental Score according to the be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e9a47b33307ee1963200eea9f6e9980
https://doi.org/10.1159/000492218
https://doi.org/10.1159/000492218
Autor:
Monique Elmaleh-Bergès, Hélène Ogier de Baulny, Bastien Roche, Roseline Froissart, Oriane Mercati, Odile Fenneteau, Manuel Schiff, Marie Ouachee, Samia Pichard, Yves Bertrand, Marie T. Vanier
Publikováno v:
European Journal of Paediatric Neurology. 21:907-911
Acid sphingomyelinase (ASM) deficient Niemann-Pick disease is a lysosomal storage disorder resulting from mutations in the SMPD1 gene. The clinical spectrum distinguishes a severe infantile neurological form (type A), a non-neurological visceral form
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a93a823580bf8756495aa82e5569d852
https://doi.org/10.1016/j.ejpn.2017.07.015
https://doi.org/10.1016/j.ejpn.2017.07.015
Autor:
Anne Laure Simon, Brice Ilharreborde, Jean Meyblum, Christophe Vidal, Bastien Roche, Keyvan Mazda, Isabelle Husson
Publikováno v:
Spine deformity. 7(5)
Study Design Prospective monocentric study. Objectives To describe the radiologic characteristics and evolution of spinal shapes in a pediatric cohort of patients with Friedreich ataxia (FA). Summary of Background Data FA is a spinocerebellar degener
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::596b6af770f1756316b0332a498e0aac
https://pubmed.ncbi.nlm.nih.gov/31495483
https://pubmed.ncbi.nlm.nih.gov/31495483
Autor:
Isabelle Husson, Sophie Guilmin-Crepon, Anne-Laure Simon, Ana Presedo, Corinne Alberti, Bastien Roche, Béatrice Andriss, Brice Ilharreborde, Priscilla Boizeau
Publikováno v:
Gaitposture. 66
Background Friedreich ataxia (FRDA) affects the spatio-temporal parameters (STP) of gait. To our knowledge, proper tools to measure the variability of ataxic gait have not been validated yet. The aims of the present study were: (1) to measure the rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d149637cb8ad264e72972b1ce9a80231
https://pubmed.ncbi.nlm.nih.gov/30145474
https://pubmed.ncbi.nlm.nih.gov/30145474
Autor:
Odile Fenneteau, Juliette Bouchereau, Manuel Schiff, Marie Ouachee, Bastien Roche, Hélène Ogier de Baulny, Yves Bertrand, Samia Pichard, Roseline Froissart, Oriane Mercati, Marie T. Vanier, Monique Elmaleh
Publikováno v:
Molecular Genetics and Metabolism. 123:S116-S117
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5d988aa852078c29410d3e4664b4c90
https://doi.org/10.1016/j.ymgme.2017.12.314
https://doi.org/10.1016/j.ymgme.2017.12.314
Autor:
Isabelle Husson, Bastien Roche
Publikováno v:
Neurophysiologie Clinique/Clinical Neurophysiology. 46:276-277
Introduction Plus frequente des ataxies autosomiques recessives, l’ataxie de Friedreich est une maladie neurodegenerative lentement progressive qui presente, entre autres, un syndrome pyramidal, un syndrome cerebelleux et une atteinte de la sensibi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71317398c378c05329146f9b4250f7b4
https://doi.org/10.1016/j.neucli.2016.09.098
https://doi.org/10.1016/j.neucli.2016.09.098
Autor:
Bastien Roche, Anne-Laure Simon, Jean Meyblum, Isabelle Husson, Christophe Vidal, Brice Ilharreborde
Publikováno v:
Revue de Chirurgie Orthopédique et Traumatologique. 103:S52
Introduction L’ataxie de Friedreich (AF) est une maladie neurodegenerative spinocerebelleuse, debutant le plus souvent dans l’enfance. Elle est responsable d’une alteration severe de la marche mais egalement de deformations orthopediques telles
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::901ba3d36f7dc549563720127699d1ea
https://doi.org/10.1016/j.rcot.2017.09.072
https://doi.org/10.1016/j.rcot.2017.09.072
Publikováno v:
Neurophysiologie Clinique/Clinical Neurophysiology. 45:403-404
Introduction Ataxie autosomique recessive la plus frequente, l’ataxie de Friedreich est une maladie neurodegenerative lentement progressive qui touche 1500 personnes en France. Maladie encore incurable, une prise en charge symptomatique et une meil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::27e6d5dbf30826195e854120d4a8be3f
https://doi.org/10.1016/j.neucli.2015.10.040
https://doi.org/10.1016/j.neucli.2015.10.040
Publikováno v:
Kinésithérapie, la Revue. 15:35-36
Introduction Avec 1500 personnes touchees en France, l’ataxie de Friedreich est l’ataxie hereditaire a transmission autosomique recessive la plus courante. De nombreux protocoles de recherche s’interessent a cette maladie pour laquelle les trai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ecd091e19dbe8a7fe2e7b267a017d0f5
https://doi.org/10.1016/j.kine.2014.11.041
https://doi.org/10.1016/j.kine.2014.11.041