CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

Brain - Tập 132 Số 6 - Trang 1589-1600 - 2009
Cyril Goizet1,2,3, A. Boukhris1,2,4,5, A. Dürr1,2,4, Christian Beetz6, Jérémy Truchetto1,2, Christelle Tesson1,2, Maria K. Tsaousidou7, Sylvie Forlani1,2, Lucie Guyant‐Maréchal8, B. Fontaine9, João Tiago Guimarães10, Bertrand Isidor11, O. Chazouillères12, Dominique Wendum13, D. Grid14, Françoise Chevy15, Patrick F. Chinnery16, Paula Coutinho17, Jean‐Philippe Azulay18, Imed Feki5, Fanny Mochel1,2, Francesco Visioli15, Chokri Mhiri5, Andrew H. Crosby7, Alexis Brice1,2,4, Giovanni Stevanin1,2,4
11 INSERM, UMR_S975 (formerly U679), Paris, France
22 UPMC Univ Paris 06, UMR_S975, Centre de Recherche Institut du Cerveau et de la Moelle, CNRS 7225, Pitié-Salpêtrière Hospital, Paris, France
33 Laboratoire de Génétique Humaine, Université Victor Segalen Bordeaux 2, Bordeaux, France
44 Department of Genetics and Cytogenetics, AP-HP, Pitié-Salpêtrière Hospital, Paris, France
55 Service de Neurologie, Hôpital Universitaire Habib Bourguiba, Sfax, Tunisia
66 Friedrich-Schiller-Universitat of Jena, Germany
77 Medical Genetics Department, St George's, University of London, London, UK
88 Service de Neurologie, CHU de Rouen, Rouen, France
99 INSERM U546, Paris, France
1010 British Hospital, Lisbon, Portugal
1111 Service de Génétique Médicale, CHU Nantes, Nantes, France
1212 Service d'Hépatologie, AP-HP, Hôpital Saint Antoine, Paris, France
1313 Faculté de Médecine Pierre et Marie Curie, Paris, France and Service d'Anatomie Pathologique, Hôpital Saint-Antoine, AP-HP, Faculté de Médecine Pierre et Marie Curie, Paris, France
1414 Genethon, Evry, France
1515 Service commun de Spectrométrie de Masse, INSERM, UPMC, Paris, France
1616 Institute of Human Genetics, Newcastle General Hospital, UK
1717 Hosp. S. Sebastiao, Santa Maria da Feira, Portugal
1818 Service de Neurologie et Pathologie du Mouvement, hôpital de la Timone, 13385 Marseille cedex 05, France

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Brain

Tập 132 Số 6

1589-1600

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