Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Acta Neuropathologica

Volumn 128, Issue 3, 2014, Pages 397-410

  Van Der Zee, Julie ^a,b   Van Langenhove, Tim ^a,b,c   Kovacs, Gabor G ^d   Dillen, Lubina ^a,b   Deschamps, William ^a,b   Engelborghs, Sebastiaan ^b,e   Matěj, Radoslav ^f,g   Vandenbulcke, Mathieu ^h,i   Sieben, Anne ^a,b,j   Dermaut, Bart ^j,k   Smets, Katrien ^a,b,c   Van Damme, Philip ^a,i   Merlin, Céline ^a,b   Laureys, Annelies ^a,b   Van Den Broeck, Marleen ^a,b   Mattheijssens, Maria ^a,b   Peeters, Karin ^a,b   Benussi, Luisa ^l   Binetti, Giuliano ^l   Ghidoni, Roberta ^l   Borroni, Barbara ^m   Padovani, Alessandro ^m   Archetti, Silvana ⁿ   Pastor, Pau ^o,p,q   Razquin, Cristina ^o   Ortega Cubero, Sara ^o,p,q   Hernández, Isabel ^r   Boada, Mercè ^r   Ruiz, Agustín ^r   De Mendonça, Alexandre ^s   Miltenberger Miltényi, Gabriel ^s   Do Couto, Frederico Simões ^s,t   Sorbi, Sandro ^u   Nacmias, Benedetta ^u   Bagnoli, Silvia ^u   Graff, Caroline ^v,w   Chiang, Huei Hsin ^v,w   Thonberg, Håkan ^w   Perneczky, Robert ^x,y,z   Diehl Schmid, Janine ^z   Alexopoulos, Panagiotis ^z   Frisoni, Giovanni B ^l,aa   Bonvicini, Christian ^l   Synofzik, Matthis ^ab,ac   Maetzler, Walter ^ab,ac   Vom Hagen, Jennifer Müller ^ab,ac   Schöls, Ludger ^ab,ac   Haack, Tobias B ^z,ad   Strom, Tim M ^z,ad   Prokisch, Holger ^z,ad   Dols Icardo, Oriol ^q,ae   Clarimón, Jordi ^q,ae   Lleó, Alberto ^q,ae   Santana, Isabel ^af,ag   Almeida, Maria Rosário ^ah   Santiago, Beatriz ^af   Heneka, Michael T ^ac,ai   Jessen, Frank ^ac,ai   Ramirez, Alfredo ^ai   Sanchez Valle, Raquel ^aj   Llado, Albert ^aj   Gelpi, Ellen ^ak   Sarafov, Stayko ^al   Tournev, Ivailo ^al,am   Jordanova, Albena ^a,b,al   Parobkova, Eva ^f   Fabrizi, Gian Maria ^an   Testi, Silvia ^an   Salmon, Eric ^ao   Ströbel, Thomas ^d   Santens, Patrick ^j   Robberecht, Wim ^a,i   De Jonghe, Peter ^a,b,c   Martin, Jean Jacques ^a,b   Cras, Patrick ^b,c   Vandenberghe, Rik ^h,i   De Deyn, Peter Paul ^b,e,ap   Cruts, Marc ^a,b   Sleegers, Kristel ^a,b   Van Broeckhoven, Christine ^a,b   more..

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d MEDICAL UNIVERSITY OF VIENNA   (Austria)

^e Hospital Network Antwerp Middelheim and Hoge Beuken   (Belgium)

^f FAKULTNÍ THOMAYEROVA NEMOCNICE   (Czech Republic)

^g CHARLES UNIVERSITY   (Czech Republic)

^h UNIVERSITY OF LEUVEN   (Belgium)

ⁱ UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^j GHENT UNIVERSITY HOSPITAL   (Belgium)

^k UNIV LILLE   (France)

^l IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

^m UNIVERSITY OF BRESCIA   (Italy)

ⁿ Brescia Hospital   (Italy)

^o UNIVERSITY OF NAVARRA   (Spain)

^p UNIVERSITY CLINIC OF NAVARRA   (Spain)

^q CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^r Institut Catala de Neurociencies Aplicades   (Spain)

^s INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

^t HOSPITAL DE SANTA MARIA   (Portugal)

^u UNIVERSITY OF FLORENCE   (Italy)

^v KAROLINSKA INSTITUTE   (Sweden)

^w KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^x IMPERIAL COLLEGE LONDON   (United Kingdom)

^y WEST LONDON MENTAL HEALTH NHS TRUST   (United Kingdom)

^z TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^aa GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^ab UNIVERSITY OF TÜBINGEN   (Germany)

^ac GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^ad INSTITUTE OF EPIDEMIOLOGY   (Germany)

^ae UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^af UNIVERSITY OF COIMBRA   (Portugal)

^ag UNIVERSITY OF COIMBRA   (Portugal)

^ah UNIVERSITY OF COIMBRA   (Portugal)

^ai UNIVERSITY OF BONN   (Germany)

^aj HOSPITAL CLÍNIC   (Spain)

^ak INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^al MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^am NEW BULGARIAN UNIVERSITY   (Bulgaria)

^an UNIVERSITY OF VERONA   (Italy)

^ao UNIVERSITY OF LIÈGE   (Belgium)

^ap UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

more..

Author keywords

ALS; FTLD; p62; Rare variants; Sequestosome 1; SQSTM1

Indexed keywords

ADULT; AGED; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE PREDISPOSITION; FAMILY HISTORY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; NEUROPATHOLOGY; NONSENSE MUTATION; ONSET AGE; PRIORITY JOURNAL; SEQUESTOSOME 1 GENE; AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL; EUROPE; GENETIC PREDISPOSITION; GENETICS; INTERNATIONAL COOPERATION; META ANALYSIS (TOPIC); NUCLEOTIDE SEQUENCE; PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; VERY ELDERLY;

DNA BINDING PROTEIN; PROTEIN TDP-43; SIGNAL TRANSDUCING ADAPTOR PROTEIN; SQSTM1 PROTEIN, HUMAN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EUROPE; FEMALE; FRONTOTEMPORAL LOBAR DEGENERATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERNATIONAL COOPERATION; MALE; META-ANALYSIS AS TOPIC; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84906313820     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-014-1298-7     Document Type: Article

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