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Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies

Publikováno v: European Journal of Neurology
European Journal of Neurology, Wiley, 2021, 28 (2), pp.660-669. ⟨10.1111/ene.14592⟩
European Journal of Neurology, 2021, 28 (2), pp.660-669. ⟨10.1111/ene.14592⟩

International audience; Background and purpose: To describe a large series of patients with α, β, and γ sarcoglycanopathies (LGMD-R3, R4, and R5) and study phenotypic correlations and disease progression. Methods: A multicentric retrospective stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bc43a507bdad0a6b1a1d290138fabb4
https://hal.archives-ouvertes.fr/hal-03141476

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La trachéotomie : face à l’urgence des troubles physiques, émergence de troubles psychiques

Autor: J. Bataille, D. Tiberghien, B. Estournet, Delphine Bonnichon, Christian Réveillère

Publikováno v: Neuropsychiatrie de l'Enfance et de l'Adolescence. 62:521-525

Resume Cet article presente le cas clinique d’un adolescent atteint de dystrophie musculaire de Duchenne, sous corticoides, qui developpe pendant plusieurs mois un etat psychotique non dissociatif avec participation thymique consecutif a l’indica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7244bb6ec41aa6b5d2733cdba00251b0
https://doi.org/10.1016/j.neurenf.2014.03.003

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Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy

Autor: B. Estournet, J.-M. Cuisset

Publikováno v: Revue Neurologique. 168:902-909

Typical childhood spinal muscular atrophy is a disease that affects the anterior horn of the spinal cord related to SMN1 gene defects. Since no etiological treatment is currently available, its management is necessarily symptomatic and involves multi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c153d2fece571a47631248130398f583
https://doi.org/10.1016/j.neurol.2012.07.020

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Humoral and Cellular Immunity to Intrinsic Factor in Myasthenia Gravis

Autor: M. Goulon, J. Zittoun, B Estournet, M Tulliez

Publikováno v: Scandinavian Journal of Haematology. 23:442-448

Myasthenia gravis (MG) is an autoimmune disease often associated with other autoimmune disorders. A case history of MG with a coexisting atypical megaloblastic anaemia with vitamin B12 deficiency and anti Intrinsic Factor (IF) antibodies, led to a st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cbfd5d9ebc2dcb17076a2e4ecfa8f13
https://doi.org/10.1111/j.1600-0609.1979.tb02747.x

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Impacts psychologiques des amyotrophies spinales infantiles : éclairages théoriques et témoignages

Autor: A. Barois, B. Estournet, C. Grisard, P. Jouinot, B. Paumier

Publikováno v: Neuropsychiatrie de l'Enfance et de l'Adolescence. 56:82-88

Resume Les etudes psychologiques realisees jusqu’a present aupres d’enfants atteints d’une amyotrophie spinale infantile ont essentiellement porte sur les processus cognitifs. Toutes ont mis en evidence des performances comparables, voire super

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2b38da9c2fbbdec406f58112725a47b3
https://doi.org/10.1016/j.neurenf.2008.01.007

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Syndromes myasthéniques congénitaux dus à des mutations du gène de la rapsyne

Autor: Pascale Richard, E. Yasaki, Jeanine Koenig, S. Bauche, A. Barois, B. Estournet, Daniel Hantaï, M. Mayer, K. Gaudon, Bruno Eymard, Emmanuel Fournier, Cassandra Prioleau, Christine Ioos, J.P. Leroy

Publikováno v: Revue Neurologique. 160:78-84

Congenital myasthenic syndromes (CMS) are genetic diseases characterized by dysfunctional neuromuscular transmission and usually start during the neonatal period. Most are due to postsynaptic abnormalities, specifically to mutations in the acetylchol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fa87f4a0f31f480c1ccf6473ed0b4756
https://doi.org/10.1016/s0035-3787(04)71009-7

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