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234 results

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Page 1
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A; SPATAX consortium. Stevanin G, et al. Among authors: anheim m. Brain. 2008 Mar;131(Pt 3):772-84. doi: 10.1093/brain/awm293. Epub 2007 Dec 13. Brain. 2008. PMID: 18079167
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
Anheim M, Lagier-Tourenne C, Stevanin G, Fleury M, Durr A, Namer IJ, Denora P, Brice A, Mandel JL, Koenig M, Tranchant C. Anheim M, et al. J Neurol. 2009 Jan;256(1):104-8. doi: 10.1007/s00415-009-0083-3. Epub 2009 Feb 9. J Neurol. 2009. PMID: 19224311
Repetitive behaviours in patients with Gilles de la Tourette syndrome: tics, compulsions, or both?
Worbe Y, Mallet L, Golmard JL, Béhar C, Durif F, Jalenques I, Damier P, Derkinderen P, Pollak P, Anheim M, Broussolle E, Xie J, Mesnage V, Mondon K, Viallet F, Jedynak P, Ben Djebara M, Schüpbach M, Pelissolo A, Vidailhet M, Agid Y, Houeto JL, Hartmann A. Worbe Y, et al. Among authors: anheim m. PLoS One. 2010 Sep 24;5(9):e12959. doi: 10.1371/journal.pone.0012959. PLoS One. 2010. PMID: 20885982 Free PMC article. Clinical Trial.
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.
Lesage S, Anheim M, Condroyer C, Pollak P, Durif F, Dupuits C, Viallet F, Lohmann E, Corvol JC, Honoré A, Rivaud S, Vidailhet M, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group. Lesage S, et al. Among authors: anheim m. Hum Mol Genet. 2011 Jan 1;20(1):202-10. doi: 10.1093/hmg/ddq454. Epub 2010 Oct 14. Hum Mol Genet. 2011. PMID: 20947659
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.
Saad M, Lesage S, Saint-Pierre A, Corvol JC, Zelenika D, Lambert JC, Vidailhet M, Mellick GD, Lohmann E, Durif F, Pollak P, Damier P, Tison F, Silburn PA, Tzourio C, Forlani S, Loriot MA, Giroud M, Helmer C, Portet F, Amouyel P, Lathrop M, Elbaz A, Durr A, Martinez M, Brice A; French Parkinson's Disease Genetics Study Group. Saad M, et al. Hum Mol Genet. 2011 Feb 1;20(3):615-27. doi: 10.1093/hmg/ddq497. Epub 2010 Nov 17. Hum Mol Genet. 2011. PMID: 21084426
234 results