Etiology
Bellenguez C,
Küçükali F,
Jansen IE,
Kleineidam L,
Moreno-Grau S,
Amin N,
Naj AC,
Campos-Martin R,
Grenier-Boley B,
Andrade V,
Holmans PA,
Boland A,
Damotte V,
van der Lee SJ,
Costa MR,
Kuulasmaa T,
Yang Q,
de Rojas I,
Bis JC,
Yaqub A,
Prokic I,
Chapuis J,
Ahmad S,
Giedraitis V,
Aarsland D,
Garcia-Gonzalez P,
Abdelnour C,
Alarcón-Martín E,
Alcolea D,
Alegret M,
Alvarez I,
Álvarez V,
Armstrong NJ,
Tsolaki A,
Antúnez C,
Appollonio I,
Arcaro M,
Archetti S,
Pastor AA,
Arosio B,
Athanasiu L,
Bailly H,
Banaj N,
Baquero M,
Barral S,
Beiser A,
Pastor AB,
Below JE,
Benchek P,
Benussi L,
Berr C,
Besse C,
Bessi V,
Binetti G,
Bizarro A,
Blesa R,
Boada M,
Boerwinkle E,
Borroni B,
Boschi S,
Bossù P,
Bråthen G,
Bressler J,
Bresner C,
Brodaty H,
Brookes KJ,
Brusco LI,
Buiza-Rueda D,
Bûrger K,
Burholt V,
Bush WS,
Calero M,
Cantwell LB,
Chene G,
Chung J,
Cuccaro ML,
Carracedo Á,
Cecchetti R,
Cervera-Carles L,
Charbonnier C,
Chen HH,
Chillotti C,
Ciccone S,
Claassen JAHR,
Clark C,
Conti E,
Corma-Gómez A,
Costantini E,
Custodero C,
Daian D,
Dalmasso MC,
Daniele A,
Dardiotis E,
Dartigues JF,
de Deyn PP,
de Paiva Lopes K,
de Witte LD,
Debette S,
Deckert J,
Del Ser T,
Denning N,
DeStefano A,
Dichgans M,
Diehl-Schmid J,
Diez-Fairen M,
Rossi PD,
Djurovic S,
Duron E,
Düzel E,
Dufouil C,
Eiriksdottir G,
Engelborghs S,
Escott-Price V,
Espinosa A,
Ewers M,
Faber KM,
Fabrizio T,
Nielsen SF,
Fardo DW,
Farotti L,
Fenoglio C,
Fernández-Fuertes M,
Ferrari R,
Ferreira CB,
Ferri E,
Fin B,
Fischer P,
Fladby T,
Fließbach K,
Fongang B,
Fornage M,
Fortea J,
Foroud TM,
Fostinelli S,
Fox NC,
Franco-Macías E,
Bullido MJ,
Frank-García A,
Froelich L,
Fulton-Howard B,
Galimberti D,
García-Alberca JM,
García-González P,
Garcia-Madrona S,
Garcia-Ribas G,
Ghidoni R,
Giegling I,
Giorgio G,
Goate AM,
Goldhardt O,
Gomez-Fonseca D,
González-Pérez A,
Graff C,
Grande G,
Green E,
Grimmer T,
Grünblatt E,
Grunin M,
Gudnason V,
Guetta-Baranes T,
Haapasalo A,
Hadjigeorgiou G,
Haines JL,
Hamilton-Nelson KL,
Hampel H,
Hanon O,
Hardy J,
Hartmann AM,
Hausner L,
Harwood J,
Heilmann-Heimbach S,
Helisalmi S,
Heneka MT,
Hernández I,
Herrmann MJ,
Hoffmann P,
Holmes C,
Holstege H,
Vilas RH,
Hulsman M,
Humphrey J,
Biessels GJ,
Jian X,
Johansson C,
Jun GR,
Kastumata Y,
Kauwe J,
Kehoe PG,
Kilander L,
Ståhlbom AK,
Kivipelto M,
Koivisto A,
Kornhuber J,
Kosmidis MH,
Kukull WA,
Kuksa PP,
Kunkle BW,
Kuzma AB,
Lage C,
Laukka EJ,
Launer L,
Lauria A,
Lee CY,
Lehtisalo J,
Lerch O,
Lleó A,
Longstreth W Jr,
Lopez O,
de Munain AL,
Love S,
Löwemark M,
Luckcuck L,
Lunetta KL,
Ma Y,
Macías J,
MacLeod CA,
Maier W,
Mangialasche F,
Spallazzi M,
Marquié M,
Marshall R,
Martin ER,
Montes AM,
Rodríguez CM,
Masullo C,
Mayeux R,
Mead S,
Mecocci P,
Medina M,
Meggy A,
Mehrabian S,
Mendoza S,
Menéndez-González M,
Mir P,
Moebus S,
Mol M,
Molina-Porcel L,
Montrreal L,
Morelli L,
Moreno F,
Morgan K,
Mosley T,
Nöthen MM,
Muchnik C,
Mukherjee S,
Nacmias B,
Ngandu T,
Nicolas G,
Nordestgaard BG,
Olaso R,
Orellana A,
Orsini M,
Ortega G,
Padovani A,
Paolo C,
Papenberg G,
Parnetti L,
Pasquier F,
Pastor P,
Peloso G,
Pérez-Cordón A,
Pérez-Tur J,
Pericard P,
Peters O,
Pijnenburg YAL,
Pineda JA,
Piñol-Ripoll G,
Pisanu C,
Polak T,
Popp J,
Posthuma D,
Priller J,
Puerta R,
Quenez O,
Quintela I,
Thomassen JQ,
Rábano A,
Rainero I,
Rajabli F,
Ramakers I,
Real LM,
Reinders MJT,
Reitz C,
Reyes-Dumeyer D,
Ridge P,
Riedel-Heller S,
Riederer P,
Roberto N,
Rodriguez-Rodriguez E,
Rongve A,
Allende IR,
Rosende-Roca M,
Royo JL,
Rubino E,
Rujescu D,
Sáez ME,
Sakka P,
Saltvedt I,
Sanabria Á,
Sánchez-Arjona MB,
Sanchez-Garcia F,
Juan PS,
Sánchez-Valle R,
Sando SB,
Sarnowski C,
Satizabal CL,
Scamosci M,
Scarmeas N,
Scarpini E,
Scheltens P,
Scherbaum N,
Scherer M,
Schmid M,
Schneider A,
Schott JM,
Selbæk G,
Seripa D,
Serrano M,
Sha J,
Shadrin AA,
Skrobot O,
Slifer S,
Snijders GJL,
Soininen H,
Solfrizzi V,
Solomon A,
Song Y,
Sorbi S,
Sotolongo-Grau O,
Spalletta G,
Spottke A,
Squassina A,
Stordal E,
Tartan JP,
Tárraga L,
Tesí N,
Thalamuthu A,
Thomas T,
Tosto G,
Traykov L,
Tremolizzo L,
Tybjærg-Hansen A,
Uitterlinden A,
Ullgren A,
Ulstein I,
Valero S,
Valladares O,
Broeckhoven CV,
Vance J,
Vardarajan BN,
van der Lugt A,
Dongen JV,
van Rooij J,
van Swieten J,
Vandenberghe R,
Verhey F,
Vidal JS,
Vogelgsang J,
Vyhnalek M,
Wagner M,
Wallon D,
Wang LS,
Wang R,
Weinhold L,
Wiltfang J,
Windle G,
Woods B,
Yannakoulia M,
Zare H,
Zhao Y,
Zhang X,
Zhu C,
Zulaica M;
EADB;
GR@ACE;
DEGESCO;
EADI;
GERAD;
Demgene;
FinnGen;
ADGC;
CHARGE,
Farrer LA,
Psaty BM,
Ghanbari M,
Raj T,
Sachdev P,
Mather K,
Jessen F,
Ikram MA,
de Mendonça A,
Hort J,
Tsolaki M,
Pericak-Vance MA,
Amouyel P,
Williams J,
Frikke-Schmidt R,
Clarimon J,
Deleuze JF,
Rossi G,
Seshadri S,
Andreassen OA,
Ingelsson M,
Hiltunen M,
Sleegers K,
Schellenberg GD,
van Duijn CM,
Sims R,
van der Flier WM,
Ruiz A,
Ramirez A,
Lambert JC
Nat Genet
2022 Apr;54(4):412-436.
Epub 2022 Apr 4
doi: 10.1038/s41588-022-01024-z.
PMID: 35379992Free PMC Article
Willett FR,
Avansino DT,
Hochberg LR,
Henderson JM,
Shenoy KV
Nature
2021 May;593(7858):249-254.
Epub 2021 May 12
doi: 10.1038/s41586-021-03506-2.
PMID: 33981047Free PMC Article
Ladd R,
Davis M,
Dyer JA
Clin Dermatol
2020 Jul-Aug;38(4):432-454.
Epub 2020 Mar 30
doi: 10.1016/j.clindermatol.2020.03.007.
PMID: 32972602
Lehmann AR,
McGibbon D,
Stefanini M
Orphanet J Rare Dis
2011 Nov 1;6:70.
doi: 10.1186/1750-1172-6-70.
PMID: 22044607Free PMC Article
Raygada M,
Pasini B,
Stratakis CA
Adv Otorhinolaryngol
2011;70:99-106.
Epub 2011 Feb 24
doi: 10.1159/000322484.
PMID: 21358191Free PMC Article
Diagnosis
Bellenguez C,
Küçükali F,
Jansen IE,
Kleineidam L,
Moreno-Grau S,
Amin N,
Naj AC,
Campos-Martin R,
Grenier-Boley B,
Andrade V,
Holmans PA,
Boland A,
Damotte V,
van der Lee SJ,
Costa MR,
Kuulasmaa T,
Yang Q,
de Rojas I,
Bis JC,
Yaqub A,
Prokic I,
Chapuis J,
Ahmad S,
Giedraitis V,
Aarsland D,
Garcia-Gonzalez P,
Abdelnour C,
Alarcón-Martín E,
Alcolea D,
Alegret M,
Alvarez I,
Álvarez V,
Armstrong NJ,
Tsolaki A,
Antúnez C,
Appollonio I,
Arcaro M,
Archetti S,
Pastor AA,
Arosio B,
Athanasiu L,
Bailly H,
Banaj N,
Baquero M,
Barral S,
Beiser A,
Pastor AB,
Below JE,
Benchek P,
Benussi L,
Berr C,
Besse C,
Bessi V,
Binetti G,
Bizarro A,
Blesa R,
Boada M,
Boerwinkle E,
Borroni B,
Boschi S,
Bossù P,
Bråthen G,
Bressler J,
Bresner C,
Brodaty H,
Brookes KJ,
Brusco LI,
Buiza-Rueda D,
Bûrger K,
Burholt V,
Bush WS,
Calero M,
Cantwell LB,
Chene G,
Chung J,
Cuccaro ML,
Carracedo Á,
Cecchetti R,
Cervera-Carles L,
Charbonnier C,
Chen HH,
Chillotti C,
Ciccone S,
Claassen JAHR,
Clark C,
Conti E,
Corma-Gómez A,
Costantini E,
Custodero C,
Daian D,
Dalmasso MC,
Daniele A,
Dardiotis E,
Dartigues JF,
de Deyn PP,
de Paiva Lopes K,
de Witte LD,
Debette S,
Deckert J,
Del Ser T,
Denning N,
DeStefano A,
Dichgans M,
Diehl-Schmid J,
Diez-Fairen M,
Rossi PD,
Djurovic S,
Duron E,
Düzel E,
Dufouil C,
Eiriksdottir G,
Engelborghs S,
Escott-Price V,
Espinosa A,
Ewers M,
Faber KM,
Fabrizio T,
Nielsen SF,
Fardo DW,
Farotti L,
Fenoglio C,
Fernández-Fuertes M,
Ferrari R,
Ferreira CB,
Ferri E,
Fin B,
Fischer P,
Fladby T,
Fließbach K,
Fongang B,
Fornage M,
Fortea J,
Foroud TM,
Fostinelli S,
Fox NC,
Franco-Macías E,
Bullido MJ,
Frank-García A,
Froelich L,
Fulton-Howard B,
Galimberti D,
García-Alberca JM,
García-González P,
Garcia-Madrona S,
Garcia-Ribas G,
Ghidoni R,
Giegling I,
Giorgio G,
Goate AM,
Goldhardt O,
Gomez-Fonseca D,
González-Pérez A,
Graff C,
Grande G,
Green E,
Grimmer T,
Grünblatt E,
Grunin M,
Gudnason V,
Guetta-Baranes T,
Haapasalo A,
Hadjigeorgiou G,
Haines JL,
Hamilton-Nelson KL,
Hampel H,
Hanon O,
Hardy J,
Hartmann AM,
Hausner L,
Harwood J,
Heilmann-Heimbach S,
Helisalmi S,
Heneka MT,
Hernández I,
Herrmann MJ,
Hoffmann P,
Holmes C,
Holstege H,
Vilas RH,
Hulsman M,
Humphrey J,
Biessels GJ,
Jian X,
Johansson C,
Jun GR,
Kastumata Y,
Kauwe J,
Kehoe PG,
Kilander L,
Ståhlbom AK,
Kivipelto M,
Koivisto A,
Kornhuber J,
Kosmidis MH,
Kukull WA,
Kuksa PP,
Kunkle BW,
Kuzma AB,
Lage C,
Laukka EJ,
Launer L,
Lauria A,
Lee CY,
Lehtisalo J,
Lerch O,
Lleó A,
Longstreth W Jr,
Lopez O,
de Munain AL,
Love S,
Löwemark M,
Luckcuck L,
Lunetta KL,
Ma Y,
Macías J,
MacLeod CA,
Maier W,
Mangialasche F,
Spallazzi M,
Marquié M,
Marshall R,
Martin ER,
Montes AM,
Rodríguez CM,
Masullo C,
Mayeux R,
Mead S,
Mecocci P,
Medina M,
Meggy A,
Mehrabian S,
Mendoza S,
Menéndez-González M,
Mir P,
Moebus S,
Mol M,
Molina-Porcel L,
Montrreal L,
Morelli L,
Moreno F,
Morgan K,
Mosley T,
Nöthen MM,
Muchnik C,
Mukherjee S,
Nacmias B,
Ngandu T,
Nicolas G,
Nordestgaard BG,
Olaso R,
Orellana A,
Orsini M,
Ortega G,
Padovani A,
Paolo C,
Papenberg G,
Parnetti L,
Pasquier F,
Pastor P,
Peloso G,
Pérez-Cordón A,
Pérez-Tur J,
Pericard P,
Peters O,
Pijnenburg YAL,
Pineda JA,
Piñol-Ripoll G,
Pisanu C,
Polak T,
Popp J,
Posthuma D,
Priller J,
Puerta R,
Quenez O,
Quintela I,
Thomassen JQ,
Rábano A,
Rainero I,
Rajabli F,
Ramakers I,
Real LM,
Reinders MJT,
Reitz C,
Reyes-Dumeyer D,
Ridge P,
Riedel-Heller S,
Riederer P,
Roberto N,
Rodriguez-Rodriguez E,
Rongve A,
Allende IR,
Rosende-Roca M,
Royo JL,
Rubino E,
Rujescu D,
Sáez ME,
Sakka P,
Saltvedt I,
Sanabria Á,
Sánchez-Arjona MB,
Sanchez-Garcia F,
Juan PS,
Sánchez-Valle R,
Sando SB,
Sarnowski C,
Satizabal CL,
Scamosci M,
Scarmeas N,
Scarpini E,
Scheltens P,
Scherbaum N,
Scherer M,
Schmid M,
Schneider A,
Schott JM,
Selbæk G,
Seripa D,
Serrano M,
Sha J,
Shadrin AA,
Skrobot O,
Slifer S,
Snijders GJL,
Soininen H,
Solfrizzi V,
Solomon A,
Song Y,
Sorbi S,
Sotolongo-Grau O,
Spalletta G,
Spottke A,
Squassina A,
Stordal E,
Tartan JP,
Tárraga L,
Tesí N,
Thalamuthu A,
Thomas T,
Tosto G,
Traykov L,
Tremolizzo L,
Tybjærg-Hansen A,
Uitterlinden A,
Ullgren A,
Ulstein I,
Valero S,
Valladares O,
Broeckhoven CV,
Vance J,
Vardarajan BN,
van der Lugt A,
Dongen JV,
van Rooij J,
van Swieten J,
Vandenberghe R,
Verhey F,
Vidal JS,
Vogelgsang J,
Vyhnalek M,
Wagner M,
Wallon D,
Wang LS,
Wang R,
Weinhold L,
Wiltfang J,
Windle G,
Woods B,
Yannakoulia M,
Zare H,
Zhao Y,
Zhang X,
Zhu C,
Zulaica M;
EADB;
GR@ACE;
DEGESCO;
EADI;
GERAD;
Demgene;
FinnGen;
ADGC;
CHARGE,
Farrer LA,
Psaty BM,
Ghanbari M,
Raj T,
Sachdev P,
Mather K,
Jessen F,
Ikram MA,
de Mendonça A,
Hort J,
Tsolaki M,
Pericak-Vance MA,
Amouyel P,
Williams J,
Frikke-Schmidt R,
Clarimon J,
Deleuze JF,
Rossi G,
Seshadri S,
Andreassen OA,
Ingelsson M,
Hiltunen M,
Sleegers K,
Schellenberg GD,
van Duijn CM,
Sims R,
van der Flier WM,
Ruiz A,
Ramirez A,
Lambert JC
Nat Genet
2022 Apr;54(4):412-436.
Epub 2022 Apr 4
doi: 10.1038/s41588-022-01024-z.
PMID: 35379992Free PMC Article
Ibrahim A,
Chopra S
Arch Pathol Lab Med
2020 May;144(5):655-660.
Epub 2019 Jun 6
doi: 10.5858/arpa.2018-0370-RS.
PMID: 31169996
Lodish MB,
Keil MF,
Stratakis CA
Endocrinol Metab Clin North Am
2018 Jun;47(2):451-462.
doi: 10.1016/j.ecl.2018.02.008.
PMID: 29754644Free PMC Article
Alexiev BA,
Chou PM,
Jennings LJ
Arch Pathol Lab Med
2018 Dec;142(12):1517-1523.
Epub 2018 Jan 26
doi: 10.5858/arpa.2017-0162-RA.
PMID: 29372846
Lehmann AR,
McGibbon D,
Stefanini M
Orphanet J Rare Dis
2011 Nov 1;6:70.
doi: 10.1186/1750-1172-6-70.
PMID: 22044607Free PMC Article
Therapy
Bendapudi PK,
Foy BH,
Mueller SB,
Liu J,
Feingold LM,
Burke KE,
Cruz W,
Chen MY,
Lau ES,
Goldberg RL,
Tatake I,
Wilkinson SC,
Carney BJ,
Stone JR,
Park D,
Avelino AR,
Hassan S,
Andrzejewski C,
Ruby KN,
Friedman KD,
Brunker PAR,
Leaf RK,
Higgins J,
Dzik WH,
Stefely JA,
Makar RS
N Engl J Med
2024 May 9;390(18):1690-1698.
doi: 10.1056/NEJMoa2402567.
PMID: 38718359Free PMC Article
Sinclair P,
Kable A,
Levett-Jones T
JBI Database System Rev Implement Rep
2015 Jan;13(1):52-64.
doi: 10.11124/jbisrir-2015-1919.
PMID: 26447007
Lau D,
Rutledge C,
Aghi MK
Neurosurg Focus
2015 Feb;38(2):E11.
doi: 10.3171/2014.10.FOCUS14700.
PMID: 25639313
Joensuu H,
Hohenberger P,
Corless CL
Lancet
2013 Sep 14;382(9896):973-83.
Epub 2013 Apr 24
doi: 10.1016/S0140-6736(13)60106-3.
PMID: 23623056
Gourgari E,
Saloustros E,
Stratakis CA
Curr Opin Pediatr
2012 Aug;24(4):518-22.
doi: 10.1097/MOP.0b013e328355a279.
PMID: 22732638Free PMC Article
Prognosis
Bellenguez C,
Küçükali F,
Jansen IE,
Kleineidam L,
Moreno-Grau S,
Amin N,
Naj AC,
Campos-Martin R,
Grenier-Boley B,
Andrade V,
Holmans PA,
Boland A,
Damotte V,
van der Lee SJ,
Costa MR,
Kuulasmaa T,
Yang Q,
de Rojas I,
Bis JC,
Yaqub A,
Prokic I,
Chapuis J,
Ahmad S,
Giedraitis V,
Aarsland D,
Garcia-Gonzalez P,
Abdelnour C,
Alarcón-Martín E,
Alcolea D,
Alegret M,
Alvarez I,
Álvarez V,
Armstrong NJ,
Tsolaki A,
Antúnez C,
Appollonio I,
Arcaro M,
Archetti S,
Pastor AA,
Arosio B,
Athanasiu L,
Bailly H,
Banaj N,
Baquero M,
Barral S,
Beiser A,
Pastor AB,
Below JE,
Benchek P,
Benussi L,
Berr C,
Besse C,
Bessi V,
Binetti G,
Bizarro A,
Blesa R,
Boada M,
Boerwinkle E,
Borroni B,
Boschi S,
Bossù P,
Bråthen G,
Bressler J,
Bresner C,
Brodaty H,
Brookes KJ,
Brusco LI,
Buiza-Rueda D,
Bûrger K,
Burholt V,
Bush WS,
Calero M,
Cantwell LB,
Chene G,
Chung J,
Cuccaro ML,
Carracedo Á,
Cecchetti R,
Cervera-Carles L,
Charbonnier C,
Chen HH,
Chillotti C,
Ciccone S,
Claassen JAHR,
Clark C,
Conti E,
Corma-Gómez A,
Costantini E,
Custodero C,
Daian D,
Dalmasso MC,
Daniele A,
Dardiotis E,
Dartigues JF,
de Deyn PP,
de Paiva Lopes K,
de Witte LD,
Debette S,
Deckert J,
Del Ser T,
Denning N,
DeStefano A,
Dichgans M,
Diehl-Schmid J,
Diez-Fairen M,
Rossi PD,
Djurovic S,
Duron E,
Düzel E,
Dufouil C,
Eiriksdottir G,
Engelborghs S,
Escott-Price V,
Espinosa A,
Ewers M,
Faber KM,
Fabrizio T,
Nielsen SF,
Fardo DW,
Farotti L,
Fenoglio C,
Fernández-Fuertes M,
Ferrari R,
Ferreira CB,
Ferri E,
Fin B,
Fischer P,
Fladby T,
Fließbach K,
Fongang B,
Fornage M,
Fortea J,
Foroud TM,
Fostinelli S,
Fox NC,
Franco-Macías E,
Bullido MJ,
Frank-García A,
Froelich L,
Fulton-Howard B,
Galimberti D,
García-Alberca JM,
García-González P,
Garcia-Madrona S,
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