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147 results

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Page 1
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Echaniz-Laguna A, Geuens T, Petiot P, Péréon Y, Adriaenssens E, Haidar M, Capponi S, Maisonobe T, Fournier E, Dubourg O, Degos B, Salachas F, Lenglet T, Eymard B, Delmont E, Pouget J, Juntas Morales R, Goizet C, Latour P, Timmerman V, Stojkovic T. Echaniz-Laguna A, et al. Among authors: degos b. Hum Mutat. 2017 May;38(5):556-568. doi: 10.1002/humu.23189. Epub 2017 Feb 25. Hum Mutat. 2017. PMID: 28144995
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M, Vuillaumier-Barrot S, Le Bizec C, Boddaert N, Kaminska A, Lascelles K, de Lonlay P, Cances C, des Portes V, Roubertie A, Doummar D, LeBihannic A, Degos B, de Saint Martin A, Flori E, Pedespan JM, Goldenberg A, Vanhulle C, Bekri S, Roubergue A, Heron B, Cournelle MA, Kuster A, Chenouard A, Loiseau MN, Valayannopoulos V, Chemaly N, Gitiaux C, Seta N, Bahi-Buisson N. Hully M, et al. Among authors: degos b. Eur J Med Genet. 2015 Sep;58(9):443-54. doi: 10.1016/j.ejmg.2015.06.007. Epub 2015 Jul 17. Eur J Med Genet. 2015. PMID: 26193382
Impaired saccadic adaptation in DYT11 dystonia.
Hubsch C, Vidailhet M, Rivaud-Péchoux S, Pouget P, Brochard V, Degos B, Pélisson D, Golmard JL, Gaymard B, Roze E. Hubsch C, et al. Among authors: degos b. J Neurol Neurosurg Psychiatry. 2011 Oct;82(10):1103-6. doi: 10.1136/jnnp.2010.232793. Epub 2011 Mar 8. J Neurol Neurosurg Psychiatry. 2011. PMID: 21386109
Myoclonus and dystonia in cerebrotendinous xanthomatosis.
Lagarde J, Roze E, Apartis E, Pothalil D, Sedel F, Couvert P, Vidailhet M, Degos B. Lagarde J, et al. Among authors: degos b. Mov Disord. 2012 Dec;27(14):1805-10. doi: 10.1002/mds.25206. Epub 2012 Oct 31. Mov Disord. 2012. PMID: 23115103 Review.
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
Méneret A, Ahmar-Beaugendre Y, Rieunier G, Mahlaoui N, Gaymard B, Apartis E, Tranchant C, Rivaud-Péchoux S, Degos B, Benyahia B, Suarez F, Maisonobe T, Koenig M, Durr A, Stern MH, Dubois d'Enghien C, Fischer A, Vidailhet M, Stoppa-Lyonnet D, Grabli D, Anheim M. Méneret A, et al. Among authors: degos b. Neurology. 2014 Sep 16;83(12):1087-95. doi: 10.1212/WNL.0000000000000794. Epub 2014 Aug 13. Neurology. 2014. PMID: 25122203
147 results