11 research outputs found
Zivotofsky v. Kerry: Of Passports, Politics, and Foreign Policy Powers
- Author
- Publication venue
- Duke University School of Law
- Publication date
- 04/02/2015
- Field of study
This commentary profiles the upcoming Supreme Court decision in Zivotofsky v. Kerry, which will decide, for the first time in United States history, the dividing line between legislative and executive authority to recognize foreign nations. Though it emanates from a seemingly-benign passport disagreement about a place-of-birth designation, this case will address an unprecedented and extremely controversial issue about separation of powers that has somehow evaded a Supreme Court decision. The Author profiles the case history and applicable legal precedent and analyzes the arguments for both sides before recommending that the Court should not find the President\u27s power in this area of foreign policy to be either supreme or exclusive
Stroke genetics informs drug discovery and risk prediction across ancestries
- Author
- Aamodt Anne H
- Aamodt Anne H
- Abedi Vida
- Adams Hieab
- Adebajo Olayinka J
- Adeoye Abiodun M
- Afzal Shoaib
- Ago Tetsuro
- Agunloye Atinuke
- Akinyemi Joshua
- Akinyemi Rufus
- Akpa Onoja
- Akpa Onoja
- Akpalu Albert
- Almgren Peter
- Alvarez-Sabin Jose
- Amin Najaf
- Amouyel Philippe
- Anderson Christopher D
- Anderson Christopher D
- Anderson Christopher D
- Aparicio Hugo J
- Arenillas Juan Francisco
- Armasu Sebastian M
- Armstrong Nicole D
- Arnett Donna K
- Arulogun Oyedunni
- Attia John
- Ay Hakan
- Bae Hee-Joon
- Bakker Mark K
- Bammler Theo K
- Bartz Traci M
- Bastarache Lisa
- Beiser Alexa S
- Beiser Alexa S
- Bell Steven
- Benavente Oscar R
- Benn Marianne
- Bennett David A
- Berr Claudine
- Bevan Steve
- Bis Joshua C
- Bis Joshua C
- Bis Joshua C
- Blay Natalia
- Boerwinkle Eric
- Boncoraglio Giorgio B
- Bordes Constance
- Borte Sigrid
- Braekkan Sigrid K
- Brody Jennifer A
- Brouwers Paul JAM
- Brown Robert D
- Brumpton Ben M
- Brumpton Ben M
- Buring Julie E
- Bustamante Mariana
- Butterworth Adam S
- Cain Anael
- Campos Francisco
- Camps-Renom Pol
- Carcel-Marquez Jara
- Caro Ilana
- Carrera Caty
- Carty Cara L
- Caso Valeria
- Castillo Jose
- Chasman Daniel I
- Chauhan Ganesh
- Chen Junshi
- Chen Junshi
- Chen Ming-Huei
- Chen Pei-Hsin
- Chen Wei Min
- Chen Wei-Min
- Chen Yiping
- Chen Zhengming
- Cheng Yu-Ching
- Cho Kelly
- Choi Seung Hoan
- Chong Michael R
- Chowhan Ayesha
- Christensen Kaare
- Clarke Robert
- Cole John W
- Collins Rory
- Correa Adolfo
- Cotlarciuc Ioana
- Cruchaga Carlos
- Cullell Natalia
- Curtze Sami
- Curtze Sami
- Cushman Mary
- Damrauer Scott M
- Danesh John
- Dartigues Jean-Francois
- de Andrade Mariza
- de Bakker Paul IW
- de Cid Rafael
- de Cid Rafael
- de Jager Phil L
- de Jager Phil L
- de Jager Phil L
- de Kort Paul L
- de Laat Karlijn F
- de Laat Karlijn F
- de Leeuw Frank-Erik
- de Leeuw Frank-Erik
- Debette Stephanie
- Delavaran Hossein
- Deleuze Jean-Francois
- Delgado Pilar
- Delgado Pilar
- Delgado-Mederos Raquel
- den Heijer Tom
- den Hoed Marcel
- DeStefano Anita L
- Dhar Rajat
- Diaz-Navarro Rosa
- Dichgans Martin
- Dorr Marcus
- Duan Qing
- Ellekjaer Hanne
- Endres Matthias
- Engelter Stefan T
- Engstrom Gunnar
- Esko Tonu
- Esko Tonu
- Evans Michele K
- Fairhurst-Hunter Zammy
- Fakunle Adekunle G
- Falcone Guido J
- Fernandez-Cadenas Israel
- Ferreira Leslie E
- Ferreira Leslie E
- Fongang Bernard
- Ford Ian
- Fornage Myriam
- Franca Paulo HC
- Frantz Stefan
- Frazer Kelly A
- Freijo Marimar
- Frikke-Schmidt Ruth
- Fritsche Lars G
- Furie Karen L
- Gabrielsen Maiken E
- Gabrielsen Maiken E
- Gallego-Fabrega Cristina
- Gallego-Fabrega Cristina
- Gasca Natalie C
- Gasca Natalie C
- Geerlings Mirjam I
- Geerlings Mirjam I
- Geerlings Mirjam I
- Georgakis Marios K
- Germain Marine
- Ghanbari Mohsen
- Gieger Christian
- Giese Anne-Katrin
- Giese Anne-Katrin
- Giulianini Franco
- Gons Rob AR
- Gordon William
- Gottesman Rebecca F
- Gottesman Rebecca F
- Gottesman Rebecca F
- Grabe Hans J
- Gravel Simon
- Gretarsdottir Solveig
- Grewal Raji P
- Gudnason Vilmundur
- Gudnason Vilmundur
- Guo Yu
- Gurpreet Wander S
- Gustafsson Stefan
- Habib Naomi
- Hachiya Tsuyoshi
- Haessler Jeffrey
- Haessler Jeffrey
- Haeusler Karl Georg
- Hagen Knut
- Hamsten Anders
- Hansen John-Bjarne
- Harris Tamara B
- Hassan Ahamad
- Hata Jun
- Havulinna Aki S
- He Jing
- He Yunye
- Heath Alicia K
- Heath Alicia K
- Heckbert Susan R
- Heit John A
- Heitsch Laura
- Heuch Ingrid
- Heuschmann Peter Ulrich
- Hill Michael
- Ho Yuk-Lam
- Holliday Elizabeth G
- Hopewell Jemma C
- Howard George
- Howson Joanna MM
- Hozawa Atsushi
- Hsu Fang-Chi
- Huffman Jennifer E
- Hveem Kristian
- Hveem Kristian
- Hyacinth Hyacinth I
- Ibanez Laura
- Ibrahim Manal
- Ikram Mohammad A
- Ikram Mohammad K
- Ilinca Andreea
- Ingelsson Erik
- Ingelsson Martin
- Inouye Michael
- Irvin Marguerite R
- Irvin Marguerite R
- Irvin Marguerite R
- Iwasaki Motoki
- Jackson Rebecca D
- Jackson Rebecca D
- Jacob Mina A
- Jee Yon Ho
- Jenkins Carolyn
- Jensen Gorm B
- Jeon Christina E
- Jern Christina
- Jian Xueqiu
- Jimenez-Conde Jordi
- Johnson Andrew D
- Johnson Julie A
- Jood Katarina
- Jousilahti Pekka
- Judy Renae L
- Jukema J Wouter
- Jung Keum Ji
- Jurgenson Tuuli
- Kabrhel Christopher
- Kaffashian Sara
- Kalra Lalit
- Kamanu Frederick K
- Kamatani Yoichiro
- Kamouchi Masahiro
- Kamstrup Pia R
- Kanai Masahiro
- Kappelle L Jaap
- Keene Keith L
- Kim Bong-Jo
- Kim Bong-Jo
- Kim Jihye
- Kim Young Jin
- Kinnunen Janne
- Kissela Brett M
- Kitazono Takanari
- Kittner Steven J
- Kjartansson Olafur
- Kleindorfer Dawn O
- Kleinschnitz Christoph
- Kleinschnitz Christoph
- Kloss Manja
- Knol Maria J
- Koido Masaru
- Komolafe Morenikeji
- Konuma Takahiro
- Kooperberg Charles
- Kooperberg Charles
- Kooperberg Charles
- Korv Janika
- Koudstaal Peter J
- Kraft Peter
- Krebs Kristi
- Kristoffersen Espen S
- Krupinski Jerzy
- Kubo Michiaki
- Kumar Amit
- Labovitz Daniel L
- Lacaze Paul
- Lange Leslie A
- Langefeld Carl D
- Langenberg Claudia
- Lathrop G Mark
- Launer Lenore J
- Laurie Cathy C
- Le Grand Quentin
- Le Grand Quentin
- Le Grand Quentin
- Lee Jin-Moo
- Lee Keon-Joo
- Lee Tsong-Hai
- Lemmens Robin
- Lemmons Robin
- Leonard Hampton L
- Lepik Kaido
- Levi Christopher R
- Lewis Adam J
- Lewis Cathryn M
- Leys Didier
- Li Jiang
- Li Liming
- Li Linxin
- Liaw Yi-Ching
- Liaw Yung-Po
- Liman Thomas
- Lin Kuang
- Lin Wei-Yu
- Lind Lars
- Lindgren Arne G
- Lindgren Cecilia M
- Lindstrom Sara
- Linkohr Birgit
- Lioutas Vasileios
- Liu Yong Mei
- Lledos Miquel
- Llucia-Carol Laia
- Longstreth WT
- Lopez Oscar L
- Lopez-Cancio Elena
- Lorentzen Erik
- Luijckx Gert-Jan
- Lv Jun
- MacDonald James
- Magi Reedik
- Magnusson Patrik K
- Maguire Jane
- Makoto Hirata
- Malik Rainer
- Manichaikul Ani
- Markus Hugh S
- Marston Nicholas A
- Marti-Fabregas Joan
- Martinez-Majander Nicolas
- Martinsen Amy E
- Matsuda Koichi
- Mayerhofer Ernst
- McArdle Patrick F
- McCauley Bryan M
- McDonough Caitrin W
- McKnight Barbara
- Meitinger Thomas
- Melander Olle
- Menon Vilas
- Menon Vilas
- Meschia James F
- Metspalu Andres
- Milani Lili
- Millan Monica
- Millwood Iona Y
- Minegishi Naoko
- Mishra Aniket
- Mitchell Braxton D
- Molina Carlos A
- Montaner Joan
- Montellano Felipe A
- Morange Pierre-Emmanuel
- Morisaki Takayuki
- Morris Andrew P
- Mosley Thomas H
- Muino Elena
- Muller-Nurasyid Martina
- Munoz-Narbona Lucia
- Murakami Yoishinori
- Nagai Akiko
- Nagai Akiko
- Nalls Mike A
- Namba Shinichi
- Nederkoorn Paul J
- Nederkoorn Paul J
- Nelis Mari
- Nielsen Jonas B
- Nielsen Jonas B
- Niiranen Teemu J
- Ninomiya Toshiharu
- Nordestgaard Borge G
- Nordestgaard Borge G
- Norrving Bo
- Nygaard Marianne
- O'Donnell Chris J
- O'Donnell Martin J
- Obach Victor
- Obiako Reginald
- Ogbole Godwin
- Ogishima Soichi
- Okada Yukinori
- Olalere Abimbola
- Onland-Moret N Charlotte
- Onland-Moret N Charlotte
- Onland-Moret N Charlotte
- Osaigbovo Godwin
- Ovbiagele Bruce
- Owolabi Lukman
- Owolabi Mayowa O
- Pankow James S
- Pankratz Nathan
- Parati Eugenio A
- Pare Guillaume
- Parodi Livia
- Pattee Jack W
- Peddareddygari Leema Reddy
- Pedersen Linda M
- Pedersen Nancy L
- Pera Joanna
- Perola Markus
- Peters Annette
- Peto Richard
- Pezzini Alessandro
- Pileggi Silvana
- Posner Daniel C
- Pozarickij Alfred
- Prasad Kameshwar
- Prats-Sanchez Luis
- Psaty Bruce M
- Pulit Sara L
- Putaala Jukka
- Puurunen Marja K
- Rabionet Raquel
- Rannikmae Kristiina
- Reiner Alexander
- Reiner Alexander P
- Rexrode Kathryn M
- Riaz Moeen
- Riba-Llena Iolanda
- Ribases Marta
- Ribo Marc
- Rice Kenneth
- Rich Stephen S
- Ridker Paul M
- Rissanen Ina L
- Rolfs Arndt
- Romero Jose R
- Roquer Jaume
- Rosand Jonathan
- Rosendaal Frits R
- Roshchupkin Gennady V
- Ross Owen A
- Rost Natalia S
- Rothwell Peter M
- Rotter Jerome I
- Rudd Anthony G
- Ruff Christian T
- Ruigrok Ynte M
- Rundek Tatjana
- Rutten-Jacobs Loes
- Sabatine Marc S
- Sacco Ralph L
- Saillour-Glenisson Florence
- Sakaue Saori
- Sale Michele M
- Saleheen Danish
- Salomaa Veikko
- Sandset Else Charlotte
- Sanghera Dharambir K
- Sapkota Bishwa R
- Sarfo Fred S
- Sargurupremraj Muralidharan
- Sargurupremraj Muralidharan
- Sarin Antti-Pekka
- Sarju Ralhan
- Sarnowski Chloe
- Sasaki Makoto
- Satizabal Claudia L
- Satoh Mamoru
- Sattar Naveed
- Sawada Norie
- Schmidt Carsten O
- Schmidt Dan
- Schmidt Reinhold
- Schminke Ulf
- Schnohr Peter
- Schnohr Peter
- Segura Tomas
- Serrano-Heras Gemma
- Seshadri Sudha
- Sharma Pankaj
- Shi Mingyang
- Shimizu Atsushi
- Shiroma Eric J
- Sibolt Gerli
- Sigurdsson Asgeir
- Sigurdsson Sigurdur
- Simonsick Eleanor M
- Skogholt Anne H
- Sloane Kelly L
- Slowik Agnieszka
- Smith Albert
- Smith Erin N
- Smith Nicholas L
- Sobrino Tomas
- Sobue Kenji
- Soderholm Martin
- Soriano-Tarraga Carolina
- Srinivasasainagendra Vinodh
- Stanne Tara M
- Stefansson Kari
- Stevens Becky
- Stine O Colin
- Stott David J
- Strauch Konstantin
- Strbian Daniel
- Suchon Pierre
- Sudlow Cathie LM
- Sumoy Lauro
- Sun Yan V
- Sung Yun Ju
- Sutoh Yoichi
- Takai Takako
- Tanaka Hideo
- Tang Weihong
- Tanislav Christian
- Tanno Kozo
- Tatlisumak Turgut
- Taylor Kent D
- Taylor Kent D
- Teumer Alexander
- Thijs Vincent NS
- Thomas Laurent F
- Thomassen Jesper Qvist
- Thorleifsson Gudmar
- Thorsteinsdottir Unnur
- Tiainen Marjaana
- Tiedt Steffen
- Tiwari Hemant K
- Tomppo Liisa
- Torres-Aguila Nuria P
- Touze Emmanuel
- Traylor Matthew
- Tregouet David-Alexandre
- Trompet Stella
- Tsugane Shoichiro
- Tuladhar Anil Man
- Turman Constance
- Turnbull Iain
- Tybjaerg-Hansen Anne
- Tzourio Christophe
- Uitterlinden Andre G
- Ungethum Kathrin
- Uvere Ezinne
- Valdimarsson Einar M
- van der Laan Sander W
- van der Lee Sven J
- van Dijk Ewoud J
- van Dijk Ewoud J
- van Dijk Gert W
- van Duijn Cornelia M
- van Hylckama Vlieg Astrid
- van Norden Anouk GW
- van Oostenbrugge Robert J
- van Rooij Frank GW
- van Setten Jessica
- van Setten Jessica
- van Vugt Marion
- van Vugt Marion
- Vaura Felix C
- Verma Shefali S
- Verma Shefali S
- Vermeer Sarah E
- Vibo Riina
- Visser Marieke C
- Vives-Bauza Cristofol
- Volker Uwe
- Volzke Henry
- Vonk Jet MJ
- Wahab Kolawole
- Wakai Kenji
- Walters Matthew
- Walters Robin G
- Wang Chen
- Wang Lu
- Wang Ruiqi
- Wareham Nicholas J
- Wassertheil-Smoller Sylvia
- Weir David
- Wennberg Patrik
- Wermer Marieke JH
- Wiggins Kerri L
- Willer Cristen J
- Williams Stephen R
- Wilson James G
- Wilson Peter WF
- Winsvold Bendik Slagsvold
- Wolfe Charles DA
- Wong Quenna
- Woo Daniel
- Worrall Bradford B
- Xu Huichun
- Yaffe Kristine
- Yamaji Taiki
- Yang Chaojie
- Yang Chengran
- Yang Qiong
- Yonova-Doing Ekaterina
- Yoon Kyungheon
- Yu Canqing
- Yusuf Salim
- Zand Ramin
- Zhou Wei
- Zonderman Alan B
- Zwart John-Anker
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
Previous genome-wide association studies (GWASs) of stroke — the second leading cause of death worldwide — were conducted predominantly in populations of European ancestry1,2. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an independent follow-up in 89,084 additional cases of stroke (30% non-European) and 1,013,843 control individuals, 87% of the primary stroke risk loci and 60% of the secondary stroke risk loci were replicated (P < 0.05). Effect sizes were highly correlated across ancestries. Cross-ancestry fine-mapping, in silico mutagenesis analysis3, and transcriptome-wide and proteome-wide association analyses revealed putative causal genes (such as SH3PXD2A and FURIN) and variants (such as at GRK5 and NOS3). Using a three-pronged approach4, we provide genetic evidence for putative drug effects, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as possible targets, with drugs already under investigation for stroke for F11 and PROC. A polygenic score integrating cross-ancestry and ancestry-specific stroke GWASs with vascular-risk factor GWASs (integrative polygenic scores) strongly predicted ischaemic stroke in populations of European, East Asian and African ancestry5. Stroke genetic risk scores were predictive of ischaemic stroke independent of clinical risk factors in 52,600 clinical-trial participants with cardiometabolic disease. Our results provide insights to inform biology, reveal potential drug targets and derive genetic risk prediction tools across ancestries
Preliminary study of the uppermantle P wave velocity structure beneath central Asia
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
- Author
- Ackermann Amanda M
- Aljeaid Deema
- Bedoukian Emma
- Bird Lynne M
- De Leon Diva D
- Deardorff Matthew A
- Diaz Jullianne
- Gonzalez-Gandolfi Christina
- Grand Katheryn
- Hopkin Robert J
- Kadakia Sejal P
- Kalish Jennifer M
- Keena Beth
- Klein Karen O
- Krantz Ian
- Leon Eyby
- Lord Katherine
- McDougall Carey
- Medne Livija
- Skraban Cara M
- Stanley Charles A
- Tarpinian Jennifer
- Zackai Elaine
- Publication venue
- Health Sciences Research Commons
- Publication date
- 04/02/2019
- Field of study
MedNet: the very broad-band seismic network for the Mediterranean
- Author
- A. Christoffersson
- A. M. Dziewonski
- A. Morelli
- B. O. Ruud
- B. Romanowicz
- D. Giardini
- D. Giardini
- D. P. McKenzie
- E. Boschi
- E. Wielandt
- E. Wielandt
- F. Gilbert
- G. A. Ekström
- G. A. Ekström
- G. A. Ekström
- G. L. Choy
- G. Nolet
- G. Nolet
- I. Müller
- J. H. Woodhouse
- L. Ruff
- M. Cara
- P. Baldi
- R. Snieder
- S. F. Ingate
- S. P. Grand
- W. E. Holt
- W. Spakman
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Detection of Cytosine Methylation in Ancient DNA from Five Native American Populations Using Bisulfite Sequencing
- Author
- A Grand
- A Portela
- A Rusov
- AW Briggs
- AW Briggs
- B Llamas
- B Shapiro
- BM Kemp
- C Grunau
- C King
- C Nestor
- C Schwarz
- Cara Monroe
- CJ Adler
- D Bolnick
- D Gokhman
- Deborah A. Bolnick
- E Willerslev
- F Kaestle
- F Sheen
- F Villanea
- F Zhang
- G Rakotoarisoa
- H Kazazian
- J Attwood
- J Burger
- J Mata-Míguez
- J Myers
- J Pedersen
- J Sved
- J Yoder
- L Orlando
- Ludovic Orlando
- M Gama-Sosa
- ME Allentoft
- MTP Gilbert
- N Rohland
- O Smith
- P Campos
- R Jaenisch
- Rick W. A. Smith
- S Boissinot
- S Hummel
- S Paabo
- S Sawyer
- T Bestor
- V Rusmintratip
- W Reik
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- Field of study
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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
- Author
- Abdelhameed Mohammed
- Al Tala Saeed
- Alehabib Elham
- Alfadhel Majid
- Alfares Ahmed A
- Alkuraya Fowzan S
- Ampatzis Konstantinos
- Anwar Najwa
- Auer-Grumbach Michaela
- Baets Jonathan
- Bakhtiari Somayeh
- Bartesaghi Luca
- Beetz Christian
- Bergmann Carsten
- Bilguvar Kaya
- Bouçanova Filipa
- Carmichael Jenny
- Català-Bordes Andrea
- Ceccherini Isabella
- Chen Jin Yun Helen
- Chrast Roman
- Darvish Hossein
- De Jonghe Peter
- De Ridder Willem
- De Winter Jonathan
- Deconinck Tine
- Deschner Selina
- Di Rocco Maja
- Dredge David
- Duman Özgür
- Efthymiou Stephanie
- Genomics England Research Consortium PREPARE network
- Ghasemi Firouzabadi Saghar
- Gläser Dieter
- Goldstein Amy
- Graham John M
- Grand Katheryn
- Haack Tobias
- Hamed Sherifa
- Haridy Nourelhoda A
- Horvath Rita
- Houlden Henry
- Hüttel Wolfgang
- Iacomino Michele
- Ishiura Hiroyuki
- Janecke Andreas R
- Jin Sheng Chih
- Kamsteeg Erik-Jan
- Koh Kishin
- Kruer Michael C
- Kuchar Martin
- Küpper Hanna
- Lacaze Elodie
- Lambert Laëtitia
- Lee Hwei-Jen
- Lewis Richard A
- Maqbool Shazia
- Maroofian Reza
- Medard Jean-Jacques
- Millan Francisca
- Müller Juliane S
- Najafi Maryam
- Nan Haitian
- Ni Meng-Yuan
- Nürnberg Gudrun
- Nürnberg Peter
- Olgac Dundar Nihal
- Otero Maria Gabriela
- Pagnamenta Alistair T
- Pasquariello Rossella
- Pedroni Andrea
- Peterson James T
- Pierson Tyler Mark
- Portier Ruben
- Rahman Fatima
- Rebelo Adriana
- Rezazadeh Varaghchi Jamileh
- Ricca Ivana
- Rusmini Marta
- Salpietro Vincenzo
- Santorelli Filippo M
- Scala Marcello
- Schmitt Emmanuelle
- Schöls Ludger
- Schüle Rebecca
- Seeman Pavel
- Senderek Jan
- Shamseldin Hanan
- Skraban Cara
- Strom Tim M
- Stucka Rolf
- Suzuki Yasuhiro
- Synofzik Matthis
- Takiyama Yoshihisa
- Tran Mau-Them Frederic
- Tsuji Shoji
- Uhrova Meszarosova Anna
- Uyanik Gökhan
- van de Warrenburg Bart P
- Wang Yinghong
- Wiessner Manuela
- Willis Mary J H
- Wood Nick W
- Xu Yiran
- Zara Federico
- Zhu Changlian
- Züchner Stephan
- Publication venue
- Publication date
- 04/09/2021
- Field of study
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
- Author
- Abdelhameed Mohammed
- Al Tala Saeed
- Alehabib Elham
- Alfadhel Majid
- Alfares Ahmed A
- Alkuraya Fowzan S
- Ampatzis Konstantinos
- Anwar Najwa
- Auer-Grumbach Michaela
- Baets Jonathan
- Bakhtiari Somayeh
- Bartesaghi Luca
- Beetz Christian
- Bergmann Carsten
- Bilguvar Kaya
- Bouçanova Filipa
- Carmichael Jenny
- Catala Bordes Andrea
- Ceccherini Isabella
- Chen Jin Yun Helen
- Chrast Roman
- Darvish Hossein
- De Jonghe Peter
- De Ridder Willem
- De Winter Jonathan
- Deconinck Tine
- Deschner Selina
- Di Rocco Maja
- Dredge David
- Duman Özgür
- Dündar Nihal
- Efthymiou Stephanie
- Ghasemi Firouzabadi Saghar
- Gläser Dieter
- Goldstein Amy
- Graham John M
- Grand Katheryn
- Haack Tobias
- Hamed Sherifa
- Haridy Nourelhoda A
- Horvath Rita
- Houlden Henry
- Hüttel Wolfgang
- Iacomino Michele
- Ishiura Hiroyuki
- Janecke Andreas R
- Jin Sheng Chih
- Kamsteeg Erik-Jan
- Koh Kishin
- Kruer Michael C
- Kuchar Martin
- Küpper Hanna
- Lacaze Elodie
- Lambert Laëtitia
- Lee Hwei-Jen
- Lewis Richard A
- Maqbool Shazia
- Maroofian Reza
- Medard Jean-Jacques
- Millan Francisca
- Müller Juliane S
- Najafi Maryam
- Nan Haitian
- Ni Meng-Yuan
- Nürnberg Gudrun
- Nürnberg Peter
- Otero Maria Gabriela
- Pagnamenta Alistair
- Pasquariello Rossella
- Pedroni Andrea
- Peterson James T
- Pierson Tyler Mark
- Portier Ruben
- Rahman Fatima
- Rebelo Adriana
- Rezazadeh Varaghchi Jamileh
- Ricca Ivana
- Rusmini Marta
- Salpietro Vincenzo
- Santorelli Filippo M
- Scala Marcello
- Schmitt Emmanuelle
- Schöls Ludger
- Schüle Rebecca
- Seeman Pavel
- Senderek Jan
- Shamseldin Hanan
- Skraban Cara
- Strom Tim M
- Stucka Rolf
- Suzuki Yasuhiro
- Synofzik Matthis
- Takiyama Yoshihisa
- Tran Mau-Them Frederic
- Tsuji Shoji
- Uhrova Meszarosova Anna
- Uyanik Gökhan
- van de Warrenburg Bart P
- Wang Yinghong
- Wiessner Manuela
- Willis Mary J H
- Wood Nick W
- Xu Yiran
- Zara Federico
- Zhu Changlian
- Züchner Stephan
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/01/2021
- Field of study
Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays
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- Gsli
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- GW.
- H.
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- Hachette
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- Hartmann Oliver G. A. S. u. A.
- Hasard
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- Huet
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- I
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- Imola S.
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- Ina A
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- Intorno
- Introduction
- Ipp Pindemonte
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- Ital III.
- Italia Scrittori
- Italia Scrittori
- Italiani
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- Jacquot
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- Jozsef Nagy
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- Kr
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- L
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- Lecturas
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- Literatur Alfero G. A.
- Literaturgeschichte
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- Macaulay G.
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- Maeterlinck Maurice
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- Mager Qrataoap M. u. A.
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- N
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- Notas
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- Old Espinoea A M.
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- R
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- Temps In Le
- Temps In Le
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- Warszawska Biblioteka
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- zu St Bibliothek
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- £·
- °·
- ßeatrice Cenci Guerrazzi F.D.
- ßeatrice Cenci Guerrazzi F.D.
- äficas R. C.
- äge
- ährig S.
- ätre de Maeterlinck Le
- öallo Juan Guzmann
- ös Sammlung
- ös Sammlung
- ös Sammlung
- ös Sammlung
- ösischen Zur
- ün
- ΙΛΕβρίηβ Jean
- Publication venue
- 'Walter de Gruyter GmbH'
- Publication date
- 01/01/1914
- Field of study
Stroke genetics informs drug discovery and risk prediction across ancestries
- Author
- Aamodt Anne H.
- Aamodt Anne H.
- Abedi Vida
- Adams Hieab
- Adebajo Olayinka J.
- Adeoye Abiodun M.
- Afzal Shoaib
- Ago Tetsuro
- Agunloye Atinuke
- Akinyemi Joshua
- Akinyemi Rufus
- Akpa Onoja
- Akpa Onoja
- Akpalu Albert
- Almgren Peter
- Alvarez-Sabin Jose
- Amin Najaf
- Amouyel Philippe
- Anderson Christopher D.
- Anderson Christopher D.
- Anderson Christopher D.
- Aparicio Hugo J.
- Arenillas Juan Francisco
- Armasu Sebastian M.
- Armstrong Nicole D.
- Arnett Donna K.
- Arulogun Oyedunni
- Attia John
- Ay Hakan
- Bae Hee-Joon
- Bakker Mark K.
- Bammler Theo K.
- Bartz Traci M.
- Bastarache Lisa
- Beiser Alexa S.
- Beiser Alexa S.
- Bell Steven
- Benavente Oscar R.
- Benn Marianne
- Bennett David A.
- Berr Claudine
- Bevan Steve
- Bis Joshua C.
- Bis Joshua C.
- Bis Joshua C.
- Blay Natalia
- Boerwinkle Eric
- Boncoraglio Giorgio B.
- Bordes Constance
- Borte Sigrid
- Braekkan Sigrid K.
- Brody Jennifer A.
- Brouwers Paul J. A. M.
- Brown Robert D., Jr.
- Brumpton Ben M.
- Brumpton Ben M.
- Buring Julie E.
- Bustamante Mariana
- Butterworth Adam S.
- Cain Anael
- Campos Francisco
- Camps-Renom Pol
- Carcel-Marquez Jara
- Caro Ilana
- Carrera Caty
- Carty Cara L.
- Caso Valeria
- Castillo Jose
- Chasman Daniel I.
- Chauhan Ganesh
- Chen Junshi
- Chen Junshi
- Chen Ming-Huei
- Chen Pei-Hsin
- Chen Wei Min
- Chen Wei-Min
- Chen Yiping
- Chen Zhengming
- Cheng Yu-Ching
- Cho Kelly
- Choi Seung Hoan
- Chong Michael R.
- Chowhan Ayesha
- Christensen Kaare
- Clarke Robert
- Cole John W.
- Collins Rory
- Correa Adolfo
- Cotlarciuc Ioana
- Cruchaga Carlos
- Cullell Natalia
- Curtze Sami
- Curtze Sami
- Cushman Mary
- Damrauer Scott M.
- Danesh John
- Dartigues Jean-Francois
- de Andrade Mariza
- de Bakker Paul I. W.
- de Cid Rafael
- de Cid Rafael
- de Jager Phil L.
- de Jager Phil L.
- de Jager Phil L.
- de Kort Paul L.
- de Laat Karlijn F.
- de Laat Karlijn F.
- de Leeuw Frank-Erik
- de Leeuw Frank-Erik
- Debette Stephanie
- Delavaran Hossein
- Deleuze Jean-Francois
- Delgado Pilar
- Delgado Pilar
- Delgado-Mederos Raquel
- den Heijer Tom
- den Hoed Marcel
- DeStefano Anita L.
- Dhar Rajat
- Diaz-Navarro Rosa
- Dichgans Martin
- Dorr Marcus
- Duan Qing
- Ellekjaer Hanne
- Endres Matthias
- Engelter Stefan T.
- Engstrom Gunnar
- Esko Tonu
- Esko Tonu
- Evans Michele K.
- Fairhurst-Hunter Zammy
- Fakunle Adekunle G.
- Falcone Guido J.
- Fernandez-Cadenas Israel
- Ferreira Leslie E.
- Ferreira Leslie E.
- Fongang Bernard
- Ford Ian
- Fornage Myriam
- Franca Paulo H. C.
- Frantz Stefan
- Frazer Kelly A.
- Freijo Marimar
- Frikke-Schmidt Ruth
- Fritsche Lars G.
- Furie Karen L.
- Gabrielsen Maiken E.
- Gabrielsen Maiken E.
- Gallego-Fabrega Cristina
- Gallego-Fabrega Cristina
- Gasca Natalie C.
- Gasca Natalie C.
- Geerlings Mirjam I.
- Geerlings Mirjam I.
- Geerlings Mirjam I.
- Georgakis Marios K.
- Germain Marine
- Ghanbari Mohsen
- Gieger Christian
- Giese Anne-Katrin
- Giese Anne-Katrin
- Giulianini Franco
- Gons Rob A. R.
- Gordon William
- Gottesman Rebecca F.
- Gottesman Rebecca F.
- Gottesman Rebecca F.
- Grabe Hans J.
- Gravel Simon
- Gretarsdottir Solveig
- Grewal Raji P.
- Gudnason Vilmundur
- Gudnason Vilmundur
- Guo Yu
- Gurpreet Wander S.
- Gustafsson Stefan
- Habib Naomi
- Hachiya Tsuyoshi
- Haessler Jeffrey
- Haessler Jeffrey
- Haeusler Karl Georg
- Hagen Knut
- Hamsten Anders
- Hansen John-Bjarne
- Harris Tamara B.
- Hassan Ahamad
- Hata Jun
- Havulinna Aki S.
- He Jing
- He Yunye
- Heath Alicia K.
- Heath Alicia K.
- Heckbert Susan R.
- Heit John A.
- Heitsch Laura
- Heuch Ingrid
- Heuschmann Peter Ulrich
- Hill Michael
- Ho Yuk-Lam
- Holliday Elizabeth G.
- Hopewell Jemma C.
- Howard George
- Howson Joanna M. M.
- Hozawa Atsushi
- Hsu Fang-Chi
- Huffman Jennifer E.
- Hveem Kristian
- Hveem Kristian
- Hyacinth Hyacinth I.
- Ibanez Laura
- Ibrahim Manal
- Ikram Mohammad A.
- Ikram Mohammad K.
- Ilinca Andreea
- Ingelsson Erik
- Ingelsson Martin
- Inouye Michael
- Irvin Marguerite R.
- Irvin Marguerite R.
- Irvin Marguerite R.
- Iwasaki Motoki
- Jackson Rebecca D.
- Jackson Rebecca D.
- Jacob Mina A.
- Jee Yon Ho
- Jenkins Carolyn
- Jensen Gorm B.
- Jeon Christina E.
- Jern Christina
- Jian Xueqiu
- Jimenez-Conde Jordi
- Johnson Andrew D.
- Johnson Julie A.
- Jood Katarina
- Jousilahti Pekka
- Judy Renae L.
- Jukema J. Wouter
- Jung Keum Ji
- Jurgenson Tuuli
- Kabrhel Christopher
- Kaffashian Sara
- Kalra Lalit
- Kamanu Frederick K.
- Kamatani Yoichiro
- Kamouchi Masahiro
- Kamstrup Pia R.
- Kanai Masahiro
- Kappelle L. Jaap
- Keene Keith L.
- Kim Bong-Jo
- Kim Bong-Jo
- Kim Jihye
- Kim Young Jin
- Kinnunen Janne
- Kissela Brett M.
- Kitazono Takanari
- Kittner Steven J.
- Kjartansson Olafur
- Kleindorfer Dawn O.
- Kleinschnitz Christoph
- Kleinschnitz Christoph
- Kloss Manja
- Knol Maria J.
- Koido Masaru
- Komolafe Morenikeji
- Konuma Takahiro
- Kooperberg Charles
- Kooperberg Charles
- Kooperberg Charles
- Korv Janika
- Koudstaal Peter J.
- Kraft Peter
- Krebs Kristi
- Kristoffersen Espen S.
- Krupinski Jerzy
- Kubo Michiaki
- Kumar Amit
- Labovitz Daniel L.
- Lacaze Paul
- Lange Leslie A.
- Langefeld Carl D.
- Langenberg Claudia
- Lathrop G. Mark
- Launer Lenore J.
- Laurie Cathy C.
- Le Grand Quentin
- Le Grand Quentin
- Le Grand Quentin
- Lee Jin-Moo
- Lee Keon-Joo
- Lee Tsong-Hai
- Lemmens Robin
- Lemmons Robin
- Leonard Hampton L.
- Lepik Kaido
- Levi Christopher R.
- Lewis Adam J.
- Lewis Cathryn M.
- Leys Didier
- Li Jiang
- Li Liming
- Li Linxin
- Liaw Yi-Ching
- Liaw Yung-Po
- Liman Thomas
- Lin Kuang
- Lin Wei-Yu
- Lind Lars
- Lindgren Arne G.
- Lindgren Cecilia M.
- Lindstrom Sara
- Linkohr Birgit
- Lioutas Vasileios
- Liu Yong Mei
- Lledos Miquel
- Llucia-Carol Laia
- Longstreth W. T.
- Lopez Oscar L.
- Lopez-Cancio Elena
- Lorentzen Erik
- Luijckx Gert-Jan
- Lv Jun
- MacDonald James
- Magi Reedik
- Magnusson Patrik K.
- Maguire Jane
- Makoto Hirata
- Malik Rainer
- Manichaikul Ani
- Markus Hugh S.
- Marston Nicholas A.
- Marti-Fabregas Joan
- Martinez-Majander Nicolas
- Martinsen Amy E.
- Matsuda Koichi
- Mayerhofer Ernst
- McArdle Patrick F.
- McCauley Bryan M.
- McDonough Caitrin W.
- McKnight Barbara
- Meitinger Thomas
- Melander Olle
- Menon Vilas
- Menon Vilas
- Meschia James F.
- Metspalu Andres
- Milani Lili
- Millan Monica
- Millwood Iona Y.
- Minegishi Naoko
- Mishra Aniket
- Mitchell Braxton D.
- Molina Carlos A.
- Montaner Joan
- Montellano Felipe A.
- Morange Pierre-Emmanuel
- Morisaki Takayuki
- Morris Andrew P.
- Mosley Thomas H.
- Muino Elena
- Muller-Nurasyid Martina
- Munoz-Narbona Lucia
- Murakami Yoishinori
- Nagai Akiko
- Nagai Akiko
- Nalls Mike A.
- Namba Shinichi
- Nederkoorn Paul J.
- Nederkoorn Paul J.
- Nelis Mari
- Nielsen Jonas B.
- Nielsen Jonas B.
- Niiranen Teemu J.
- Ninomiya Toshiharu
- Nordestgaard Borge G.
- Nordestgaard Borge G.
- Norrving Bo
- Nygaard Marianne
- O'Donnell Chris J.
- O'Donnell Martin J.
- Obach Victor
- Obiako Reginald
- Ogbole Godwin
- Ogishima Soichi
- Okada Yukinori
- Olalere Abimbola
- Onland-Moret N. Charlotte
- Onland-Moret N. Charlotte
- Onland-Moret N. Charlotte
- Osaigbovo Godwin
- Ovbiagele Bruce
- Owolabi Lukman
- Owolabi Mayowa O.
- Pankow James S.
- Pankratz Nathan
- Parati Eugenio A.
- Pare Guillaume
- Parodi Livia
- Pattee Jack W.
- Peddareddygari Leema Reddy
- Pedersen Linda M.
- Pedersen Nancy L.
- Pera Joanna
- Perola Markus
- Peters Annette
- Peto Richard
- Pezzini Alessandro
- Pileggi Silvana
- Posner Daniel C.
- Pozarickij Alfred
- Prasad Kameshwar
- Prats-Sanchez Luis
- Psaty Bruce M.
- Pulit Sara L.
- Putaala Jukka
- Puurunen Marja K.
- Rabionet Raquel
- Rannikmae Kristiina
- Reiner Alexander
- Reiner Alexander P.
- Rexrode Kathryn M.
- Riaz Moeen
- Riba-Llena Iolanda
- Ribases Marta
- Ribo Marc
- Rice Kenneth
- Rich Stephen S.
- Ridker Paul M.
- Rissanen Ina L.
- Rolfs Arndt
- Romero Jose R.
- Roquer Jaume
- Rosand Jonathan
- Rosendaal Frits R.
- Roshchupkin Gennady V.
- Ross Owen A.
- Rost Natalia S.
- Rothwell Peter M.
- Rotter Jerome I.
- Rudd Anthony G.
- Ruff Christian T.
- Ruigrok Ynte M.
- Rundek Tatjana
- Rutten-Jacobs Loes
- Sabatine Marc S.
- Sacco Ralph L.
- Saillour-Glenisson Florence
- Sakaue Saori
- Sale Michele M.
- Saleheen Danish
- Salomaa Veikko
- Sandset Else Charlotte
- Sanghera Dharambir K.
- Sapkota Bishwa R.
- Sarfo Fred S.
- Sargurupremraj Muralidharan
- Sargurupremraj Muralidharan
- Sarin Antti-Pekka
- Sarju Ralhan
- Sarnowski Chloe
- Sasaki Makoto
- Satizabal Claudia L.
- Satoh Mamoru
- Sattar Naveed
- Sawada Norie
- Schmidt Carsten O.
- Schmidt Dan
- Schmidt Reinhold
- Schminke Ulf
- Schnohr Peter
- Schnohr Peter
- Segura Tomas
- Serrano-Heras Gemma
- Seshadri Sudha
- Sharma Pankaj
- Shi Mingyang
- Shimizu Atsushi
- Shiroma Eric J.
- Sibolt Gerli
- Sigurdsson Asgeir
- Sigurdsson Sigurdur
- Simonsick Eleanor M.
- Skogholt Anne H.
- Sloane Kelly L.
- Slowik Agnieszka
- Smith Albert
- Smith Erin N.
- Smith Nicholas L.
- Sobrino Tomas
- Sobue Kenji
- Soderholm Martin
- Soriano-Tarraga Carolina
- Srinivasasainagendra Vinodh
- Stanne Tara M.
- Stefansson Kari
- Stevens Becky
- Stine O. Colin
- Stott David J.
- Strauch Konstantin
- Strbian Daniel
- Suchon Pierre
- Sudlow Cathie L. M.
- Sumoy Lauro
- Sun Yan V.
- Sung Yun Ju
- Sutoh Yoichi
- Takai Takako
- Tanaka Hideo
- Tang Weihong
- Tanislav Christian
- Tanno Kozo
- Tatlisumak Turgut
- Taylor Kent D.
- Taylor Kent D.
- Teumer Alexander
- Thijs Vincent N. S.
- Thomas Laurent F.
- Thomassen Jesper Qvist
- Thorleifsson Gudmar
- Thorsteinsdottir Unnur
- Tiainen Marjaana
- Tiedt Steffen
- Tiwari Hemant K.
- Tomppo Liisa
- Torres-Aguila Nuria P.
- Touze Emmanuel
- Traylor Matthew
- Tregouet David-Alexandre
- Trompet Stella
- Tsugane Shoichiro
- Tuladhar Anil Man
- Turman Constance
- Turnbull Iain
- Tybjaerg-Hansen Anne
- Tzourio Christophe
- Uitterlinden Andre G.
- Ungethum Kathrin
- Uvere Ezinne
- Valdimarsson Einar M.
- van der Laan Sander W.
- van der Lee Sven J.
- van Dijk Ewoud J.
- van Dijk Ewoud J.
- van Dijk Gert W.
- van Duijn Cornelia M.
- van Hylckama Vlieg Astrid
- van Norden Anouk G. W.
- van Oostenbrugge Robert J.
- van Rooij Frank G. W.
- van Setten Jessica
- van Setten Jessica
- van Vugt Marion
- van Vugt Marion
- Vaura Felix C.
- Verma Shefali S.
- Verma Shefali S.
- Vermeer Sarah E.
- Vibo Riina
- Visser Marieke C.
- Vives-Bauza Cristofol
- Volker Uwe
- Volzke Henry
- Vonk Jet M. J.
- Wahab Kolawole
- Wakai Kenji
- Walters Matthew
- Walters Robin G.
- Wang Chen
- Wang Lu
- Wang Ruiqi
- Wareham Nicholas J.
- Wassertheil-Smoller Sylvia
- Weir David
- Wennberg Patrik
- Wermer Marieke J. H.
- Wiggins Kerri L.
- Willer Cristen J.
- Williams Stephen R.
- Wilson James G.
- Wilson Peter W. F.
- Winsvold Bendik Slagsvold
- Wolfe Charles D. A.
- Wong Quenna
- Woo Daniel
- Worrall Bradford B.
- Xu Huichun
- Yaffe Kristine
- Yamaji Taiki
- Yang Chaojie
- Yang Chengran
- Yang Qiong
- Yonova-Doing Ekaterina
- Yoon Kyungheon
- Yu Canqing
- Yusuf Salim
- Zand Ramin
- Zhou Wei
- Zonderman Alan B.
- Zwart John-Anker
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study