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Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A; French Dystonia Network. Clot F, et al. Among authors: gil r. Brain. 2009 Jul;132(Pt 7):1753-63. doi: 10.1093/brain/awp084. Epub 2009 Jun 2. Brain. 2009. PMID: 19491146
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
Tassin J, Dürr A, Bonnet AM, Gil R, Vidailhet M, Lücking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholomé B, Agid Y, Brice A. Tassin J, et al. Among authors: gil r. Brain. 2000 Jun;123 ( Pt 6):1112-21. doi: 10.1093/brain/123.6.1112. Brain. 2000. PMID: 10825351
Disease severity and progression in progressive supranuclear palsy and multiple system atrophy: validation of the NNIPPS--Parkinson Plus Scale.
Payan CA, Viallet F, Landwehrmeyer BG, Bonnet AM, Borg M, Durif F, Lacomblez L, Bloch F, Verny M, Fermanian J, Agid Y, Ludolph AC, Leigh PN, Bensimon G; NNIPPS Study Group. Payan CA, et al. PLoS One. 2011;6(8):e22293. doi: 10.1371/journal.pone.0022293. Epub 2011 Aug 4. PLoS One. 2011. PMID: 21829612 Free PMC article.
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.
Avila-Smirnow D, Gueneau L, Batonnet-Pichon S, Delort F, Bécane HM, Claeys K, Beuvin M, Goudeau B, Jais JP, Nelson I, Richard P, Ben Yaou R, Romero NB, Wahbi K, Mathis S, Voit T, Furst D, van der Ven P, Gil R, Vicart P, Fardeau M, Bonne G, Behin A. Avila-Smirnow D, et al. Among authors: gil r. Rev Neurol (Paris). 2016 Oct;172(10):594-606. doi: 10.1016/j.neurol.2016.07.017. Epub 2016 Sep 12. Rev Neurol (Paris). 2016. PMID: 27633507 Review.
A new MRI rating scale for progressive supranuclear palsy and multiple system atrophy: validity and reliability.
Rolland Y, Vérin M, Payan CA, Duchesne S, Kraft E, Hauser TK, Jarosz J, Deasy N, Defevbre L, Delmaire C, Dormont D, Ludolph AC, Bensimon G, Leigh PN; NNIPPS Study Group. Rolland Y, et al. J Neurol Neurosurg Psychiatry. 2011 Sep;82(9):1025-32. doi: 10.1136/jnnp.2010.214890. Epub 2011 Mar 8. J Neurol Neurosurg Psychiatry. 2011. PMID: 21386111 Free PMC article.
1,045 results