المؤلفون: Le Ber I; INSERM, UMR679, Paris, France., van der Zee J, Hannequin D, Gijselinck I, Campion D, Puel M, Laquerrière A, De Pooter T, Camuzat A, Van den Broeck M, Dubois B, Sellal F, Lacomblez L, Vercelletto M, Thomas-Antérion C, Michel BF, Golfier V, Didic M, Salachas F, Duyckaerts C, Cruts M, Verpillat P, Van Broeckhoven C, Brice A

مؤلفون مشاركون: French Research Network on FTD/FTD-MND

المصدر: Human mutation [Hum Mutat] 2007 Sep; Vol. 28 (9), pp. 846-55.

نوع المنشور: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Codon, Nonsense*/analysis, Dementia/*genetics , Intercellular Signaling Peptides and Proteins/*genetics, Aged ; Aged, 80 and over ; Dementia/pathology ; Female ; Genetic Testing ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Progranulins ; tau Proteins/genetics

المؤلفون: van der Zee J; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium., Le Ber I, Maurer-Stroh S, Engelborghs S, Gijselinck I, Camuzat A, Brouwers N, Vandenberghe R, Sleegers K, Hannequin D, Dermaut B, Schymkowitz J, Campion D, Santens P, Martin JJ, Lacomblez L, De Pooter T, Peeters K, Mattheijssens M, Vercelletto M, Van den Broeck M, Cruts M, De Deyn PP, Rousseau F, Brice A, Van Broeckhoven C

المصدر: Human mutation [Hum Mutat] 2007 Apr; Vol. 28 (4), pp. 416.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Dementia/*genetics , Intercellular Signaling Peptides and Proteins/*genetics, Adult ; Aged ; Aged, 80 and over ; Amino Acid Sequence ; Case-Control Studies ; Conserved Sequence ; DNA Mutational Analysis ; Dementia/metabolism ; Dementia/pathology ; Female ; Humans ; Intercellular Signaling Peptides and Proteins/biosynthesis ; Intercellular Signaling Peptides and Proteins/deficiency ; Intercellular Signaling Peptides and Proteins/metabolism ; Male ; Microsatellite Repeats ; Middle Aged ; Molecular Sequence Data ; Progranulins ; Protein Conformation ; Protein Folding ; Protein Structure, Tertiary