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[Central manifestations of dystrophinopathies]

Autor: J-M, Cuisset, F, Rivier

Publikováno v: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 22(12 Suppl 1)

The dystrophin gene involved in Duchenne and Becker muscular dystrophy is expressed in three main tissues resulting in clinical manifestations: skeletal muscle, heart and central nervous system. The 6 different existing dystrophins in the brain may p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d1db6845c23053da5ed3e8716251a10a
https://pubmed.ncbi.nlm.nih.gov/26773588

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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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Childhood spinal muscular atrophy induces alterations in contractile and regulatory protein isoform expressions

Autor: L. Vallée, Claude-Alain Maurage, Bruno Bastide, Caroline Cieniewski-Bernard, J. M. Cuisset, Yvonne Mounier, Erwan Dupont, Laurence Stevens, Valérie Montel

Publikováno v: Neuropathology and Applied Neurobiology. 34:659-670

Aims: Although modifications of the survival motor neurone gene are responsible for most spinal muscular atrophy (SMA) cases, the molecular pathophysiology and the muscular target proteins involved are still unknown. The aim of this study was to comp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f33afb1f5975c0bb59f93eeb2041eeb
https://doi.org/10.1111/j.1365-2990.2008.00950.x

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Maladies neuromusculaires et souffrance psychique chez l’enfant, sa famille et les soignants

Autor: S. Debarge, P. Delion, C. Réveillère, J.-M. Cuisset

Publikováno v: Neuropsychiatrie de l'Enfance et de l'Adolescence. 56:58-62

Resume Le but de cet article est de presenter une conception en reseau de la prise en charge de soutien et d’accompagnement de l’enfant atteint d’une maladie neuromusculaire et de ses parents. Face au risque de clivage entre le somatique et le

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8132a1db740d19c486f7589ee0a5ab5d
https://doi.org/10.1016/j.neurenf.2007.06.011

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Impact du corset thoracique sur la fonction respiratoire chez des enfants atteints de maladie neuromusculaire

Autor: J M Cuisset, C. Santos, A Deschildre, C. Thumerelle, S. Morillon, Régis Matran

Publikováno v: Annales de Réadaptation et de Médecine Physique. 50:645-650

UNLABELLED Respiratory muscle weakness associated with scoliosis in neuromuscular disease leads to respiratory impairment. Children with scoliosis are usually treated with spinal bracing to delay the progress of disease. We studied the impact of spin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5e3ff848d3ab497b9959fcdb32a7d33e
https://doi.org/10.1016/j.annrmp.2007.03.018

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Comment organiser la délibération collégiale pour limiter ou arrêter les traitements en pédiatrie ?

Autor: R, Cremer, C, Lervat, A, Laffargue, J, Le Cunff, S, Joriot, C, Minnaert, J-M, Cuisset, K, Mention, D, Thomas, D, Guimber, A, Matthews, P, Fayoux, L, Storme, S, Vandoolaeghe, Sylvie, Vandoolaeghe

Publikováno v: Archives de Pédiatrie
Archives de Pédiatrie, Elsevier, 2015, 22 (11), pp.1119-1128. ⟨10.1016/j.arcped.2015.08.004⟩
Archives de Pédiatrie, 2015, 22 (11), pp.1119-1128. ⟨10.1016/j.arcped.2015.08.004⟩

International audience; In 2005, the French law on patients’ rights at the end of life required that decisions to withdraw or withhold life-sustaining treatments be made and carried out by the physician in charge of the patient, after obtaining adv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0497ac3f72b99344b165238a92f019e5
https://hal.archives-ouvertes.fr/hal-01339001/file/Collegialite.pdf

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Botulinum toxin treatment of pes cavovarus in a child suffering from autosomal recessive axonal Charcot-Marie-Tooth neuropathy (AR-CMT2)

Autor: V, Tiffreau, E, Allart, C, Dangleterre, N, Boutry, F, Petit, J M, Cuisset, A, Thevenon

Publikováno v: European journal of physical and rehabilitation medicine. 51(3)

In a 12-year old girl suffering from autosomal recessive axonal Charcot-Marie-Tooth (CMT) neuropathy, pes cavovarus was treated with botulinum toxin injection in the tibialis posterior. The patient underwent a clinical evaluation, video analysis of s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::433bd16c5186ab74751abf764172aad1
https://pubmed.ncbi.nlm.nih.gov/24980632

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