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Material Type: Artigo
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A novel DCC mutation and genetic heterogeneity in congenital mirror movementsDepienne, C ; Cincotta, M ; Billot, S ; Bouteiller, D ; Groppa, S ; Brochard, V ; Flamand, C ; Hubsch, C ; Meunier, S ; Giovannelli, F ; Klebe, S ; Corvol, J C ; Vidailhet, M ; Brice, A ; Roze, ENeurology, 2011-01, Vol.76 (3), p.260-264 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron diseaseLE BER, I ; CAMUZAT, A ; HEATH, S ; CAMU, W ; MARTINAUD, O ; LACOMBLEZ, L ; VERCELLETTO, M ; SALACHAS, F ; SELLAL, F ; DIDIC, M ; THOMAS-ANTERION, C ; PUEL, M ; BERGER, E ; MICHEL, B.-F ; BESSE, C ; DUYCKAERTS, C ; MEININGER, V ; CAMPION, D ; DUBOIS, B ; BRICE, A ; HANNEQUIN, D ; LAQUERRIERE, A ; GOLFIER, V ; SEILHEAN, D ; VIENNET, G ; COURATIER, P ; VERPILLAT, PNeurology, 2009-05, Vol.72 (19), p.1669-1676 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?CHARLES, P ; CAMUZAT, A ; BRICE, A ; BENAMMAR, N ; SELLAI, F ; DESTEE, A ; BONNET, A.-M ; LESAGE, S ; LE BER, I ; STEVANIN, G ; DURR, ANeurology, 2007-11, Vol.69 (21), p.1970-1975 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Genetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish populationLohmann, E. ; Dursun, B. ; Lesage, S. ; Hanagasi, H. A. ; Sevinc, G. ; Honore, A. ; Bilgic, B. ; Gürvit, H. ; Dogu, O. ; Kaleagası, H. ; Babacan, G. ; Yazici, J. ; Erginel-Unaltuna, N. ; Brice, A. ; Emre, M.European journal of neurology, 2012-05, Vol.19 (5), p.769-775 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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A major locus for several phenotypes of myoclonus-dystonia on chromosome 7qVIDAILHET, M ; TASSIN, J ; DURIF, F ; NIVELON-CHEVALLIER, A ; AGID, Y ; BRICE, A ; DÜRR, ANeurology, 2001-05, Vol.56 (9), p.1213-1216 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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SPG11 - the most common type of recessive spastic paraplegia in Norway?Erichsen, A. K. ; Stevanin, G. ; Denora, P. ; Brice, A. ; Tallaksen, C. M. E.Acta neurologica Scandinavica, 2008-05, Vol.117 (s188), p.46-50 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutationsLÜCKING, C. B ; BONIFATI, V ; PERIQUET, M ; VANACORE, N ; BRICE, A ; MECO, GNeurology, 2001-09, Vol.57 (5), p.924-927 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME)LABAUGE, P ; AMER, L. O ; DUCROS, A ; LEGUERN, E ; SIMONETTA-MOREAU, M ; ATTANE, F ; TANNIER, C ; CLANET, M ; CASTELNOVO, G ; AN-GOURFINKEL, I ; AGID, Y ; BRICE, ANeurology, 2002-03, Vol.58 (6), p.941-944 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaRinaldi, Carlo ; Schmidt, Thomas ; Situ, Alan J ; Johnson, Janel O ; Lee, Philip R ; Chen, Ke-lian ; Bott, Laura C ; Fadó, Rut ; Harmison, George H ; Parodi, Sara ; Grunseich, Christopher ; Renvoisé, Benoît ; Biesecker, Leslie G ; De Michele, Giuseppe ; Santorelli, Filippo M ; Filla, Alessandro ; Stevanin, Giovanni ; Dürr, Alexandra ; Brice, Alexis ; Casals, Núria ; Traynor, Bryan J ; Blackstone, Craig ; Ulmer, Tobias S ; Fischbeck, Kenneth HJAMA neurology, 2015-05, Vol.72 (5), p.561-570 [Periódico revisado por pares]United States: American Medical AssociationTexto completo disponível |
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Material Type: Artigo
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Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2Dürr, A. ; Davoine, C.-S. ; Paternotte, C. ; von Fellenberg, J. ; Cogilnicean, S. ; Coutinho, P. ; Lamy, C. ; Bourgeois, S. ; Prud'homme, J.-F. ; Penet, C. ; Mas, J.-L. ; Burgunder, J.-M. ; Hazan, J. ; Weissenbach, J. ; Brice, A. ; Fontaine, B.Brain (London, England : 1878), 1996-10, Vol.119 (5), p.1487-1496 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |