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pro vyhledávání: '"S, Tuffery"'
Akademický článek
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Autor:
F, Leturcq, S, Tuffery-Giraud
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 22(12 Suppl 1)
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the DMD gene that encodes the cytoskeletal protein, dystrophin. Dystrophinopathies are inherited in an X-linked recessive manner. Due to the tremendous s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6810a39bf1b0f63ab8cbda15556efadd
https://pubmed.ncbi.nlm.nih.gov/26773583
https://pubmed.ncbi.nlm.nih.gov/26773583
Autor:
S. Tuffery-Giraud, F Leturcq
Publikováno v:
Archives de Pédiatrie
Archives de Pédiatrie, Elsevier, 2015, 22 (12), pp.12S3-12S11. ⟨10.1016/S0929-693X(16)30002-1⟩
Archives de Pédiatrie, Elsevier, 2015, 22 (12), pp.12S3-12S11. ⟨10.1016/S0929-693X(16)30002-1⟩
International audience; Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the DMD gene that encodes the cytoskeletal protein, dystrophin. Dystrophinopathies are inherited in an X-linked recessive manner.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea6bb783bba7a8d21763332b8280ce19
https://hal.umontpellier.fr/hal-02435124
https://hal.umontpellier.fr/hal-02435124
Autor:
Mireille Claustres, R Cheminal, François Rivier, Agathe Roubertie, Bernard Echenne, Véronique Humbertclaude, S. Tuffery-Giraud
Publikováno v:
Archives de Pédiatrie. 10:994-1002
Resume Les mouvements anormaux ne sont pas exceptionnels chez l’enfant. Les progres recents de la genetique en permettent une nouvelle approche. En effet, plusieurs loci ont ete identifies dans les dyskinesies paroxystiques, ou dans le syndrome de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b87bb04b6c9a7f6ec2fce07bc87251c
https://doi.org/10.1016/j.arcped.2003.07.003
https://doi.org/10.1016/j.arcped.2003.07.003
Akademický článek
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Autor:
F. Daoud, N. Angeard, B. Demerre, I. Martie, R. Benyaou, F. Leturcq, M. Cossee, N. Deburgrave, Y. Saillour, S. Tuffery, A. Urtizberea, A. Toutain, B. Echenne, M. Frischman, M. Mayer, I. Desguerre, B. Estournet, C. Reveillere, null Penisson-Besnier, J. M. Cuisset, J. C. Kaplan, D. Heron, F. Rivier, J. Chelly
Publikováno v:
Human molecular genetics. 18(20)
The presence of variable degrees of cognitive impairment, extending from severe mental retardation to specific deficits, in patients with dystrophinopathies is a well-recognized problem. However, molecular basis underlying mental retardation and its
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5db7bb2a7b716cd9f1e8867a87ed875c
https://pubmed.ncbi.nlm.nih.gov/19602481
https://pubmed.ncbi.nlm.nih.gov/19602481
Autor:
A, Roubertie, F, Rivier, S, Tuffery-Giraud, V, Humbertclaude, M, Claustres, R, Cheminal, B, Echenne
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 10(11)
Abnormal movements are not unusual in childhood. Recent genetic progresses provide a new approach of childhood movement disorders. Several loci have been identified in paroxysmal dyskinesia, or in Gilles de la Tourette syndrome. A gene has been clone
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::05cb8d98b475b27e1e8b4a280af49e9e
https://pubmed.ncbi.nlm.nih.gov/14613695
https://pubmed.ncbi.nlm.nih.gov/14613695
Publikováno v:
Journal of neurosurgical sciences. 47(1)
Dystonia is a medically intractable condition causing twisting or myoclonic movements and abnormal postures. There is an important heterogeneity among etiologies of dystonia. The electrical stimulation of the globus pallidus has been used successfull
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6a323919e2b3a5ec7dac4ef48133c2b9
https://pubmed.ncbi.nlm.nih.gov/12900733
https://pubmed.ncbi.nlm.nih.gov/12900733
Autor:
P, Coubes, L, Cif, M, Azais, A, Roubertie, S, Hemm, N, Diakonoya, N, Vayssiere, C, Monnier, E, Hardouin, A, Ganau, S, Tuffery, M, Claustre, B, Echenne
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::642d32e76cad9325c256718317aba7e0
https://pubmed.ncbi.nlm.nih.gov/12108302
https://pubmed.ncbi.nlm.nih.gov/12108302
Autor:
A, Roubertie, F, Rivier, V, Humbertclaude, S, Tuffery, L, Cavalier, R, Cheminal, P, Coubes, B, Echenne
Publikováno v:
Revue neurologique. 158(4)
Dystonia is not uncommon in childhood, and identification of its etiology is an ultimate aim in the clinical evaluation of dystonia. Advances in neuroimaging, recent identification of gene or loci implicated in dystonic syndromes, and characterisatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::adcff80c5961ecaf34cdc0d298719111
https://pubmed.ncbi.nlm.nih.gov/11984483
https://pubmed.ncbi.nlm.nih.gov/11984483