10 research outputs found
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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
- Author
- Beecroft Sarah J
- Bronstein Adolfo
- Cauquil Cecile
- Chancellor Andrew
- Chinnery Patrick F
- Colnaghi Silvia
- Cortese Andrea
- Curro Riccardo
- Devigili Grazia
- Dyer Zoe
- Efthymiou Stephanie
- Giunti Paola
- Horga Alejandro
- Horvath Rita
- Houlden Henry
- Jaunmuktane Zane
- Kaski Diego
- Laing Nigel
- Lamont Phillipa J
- Laurá Matilde
- Leonardis Lea
- Maisonobe Thierry
- Mallucci Giulia
- Marques Wilson
- Mossman Stuart
- Pereon Yann
- Pipis Menelaos
- Polke James
- Ravenscroft Gianina
- Reilly Mary M
- Rossi Salvatore
- Rossor Alexander M
- Roxburgh Richard H
- Stojkovic Tanya
- Sullivan Roisin
- Tassorelli Cristina
- Thomas-Black Gilbert
- Tomaselli Pedro J
- Tozza Stefano
- Wood Nick W
- Yau Wai Yan
- Züchner Stephan
- Publication venue
- Brain
- Publication date
- 01/02/2020
- Field of study
Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a major cause of late onset ataxia. Here we describe the full spectrum of the disease phenotype in our first 100 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sensory neuropathy as a common feature in all cases to date. All patients were Caucasian and half were sporadic. Patients typically reported progressive unsteadiness starting in the sixth decade. A dry spasmodic cough was also frequently associated and often preceded by decades the onset of walking difficulty. Sensory symptoms, oscillopsia, dysautonomia and dysarthria were also variably associated. The disease seems to follow a pattern of spatial progression from the early involvement of sensory neurons, to the later appearance of vestibular and cerebellar dysfunction. Half of the patients needed walking aids after 10 years of disease duration and a quarter were wheelchair dependent after 15 years. Overall, two-thirds of cases had full CANVAS. Sensory neuropathy was the only manifestation in 15 patients. Sixteen patients additionally showed cerebellar involvement, and six showed vestibular involvement. The disease is very likely to be underdiagnosed. Repeat expansion in RFC1 should be considered in all cases of sensory ataxic neuropathy, particularly, but not only, if cerebellar dysfunction, vestibular involvement and cough coexist
Risk factors for obesity in 7‐year‐old European children: the Auckland Birthweight Collaborative Study
- Author
- Publication venue
- BMJ Group
- Publication date
- Field of study
Current status of species-level representation in faunas from selected fossil localities in the Riversleigh World Heritage Area, northwestern Queensland
- Author
- Publication venue
- 'Informa UK Limited'
- Publication date
- 01/01/2006
- Field of study
Current lists of species-level representation in faunas from 80 Cenozoic fossil localities at the Riversleigh World Heritage Area have been compiled by review of recorded occurrences of taxa obtained from both published and unpublished sources. More than 290 species-level taxa are represented, comprising mammals, amphibians, reptiles, birds, fishes, molluscs and crustaceans. The data are presented for the purpose of ongoing palaeoecological and biochronological studies
Current status of species-level representation in faunas from selected fossil localities in the Riversleigh World Heritage Area, northwestern Queensland
- Author
- Publication venue
- Taylor & Francis
- Publication date
- 12/05/2021
- Field of study
Current lists of species-level representation in faunas from 80 Cenozoic fossil localities at the Riversleigh World Heritage Area have been compiled by review of recorded occurrences of taxa obtained from both published and unpublished sources. More than 290 species-level taxa are represented, comprising mammals, amphibians, reptiles, birds, fishes, molluscs and crustaceans. The data are presented for the purpose of ongoing palaeoecological and biochronological studies
Correlates of social support on report of probable common mental disorders in Zimbabwean informal caregivers of patients with stroke: a cross-sectional survey
- Author
- A Rohde
- A Rohde
- AZ Loh
- B Lakey
- B Mc
- CO Akosile
- CO Akosile
- D Chibanda
- Debra Machando
- DG de Sousa
- DM Pindus
- DR Black
- E Peckham
- E Yilmaz Yalcinkaya
- EYH Tang
- F Wray
- G Vincent-onabajo
- GA Mensah
- GN Nyaaba
- H Rigby
- HA Whiteford
- HY Cheng
- J Dambi
- J Fleury
- J Ohrnberger
- Jermaine M. Dambi
- JM Dambi
- JS Grant
- LA Peplau
- M Abas
- M Katan
- M Mattson
- M Owolabi
- M Owolabi
- N Dahlem
- Phillipa Marima
- RB King
- Ropafadzo Gunduza
- S Dalal
- S Das
- T Elloker
- UM Badaru
- V Patel
- V Patel
- Y Han
- Y Yu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Stratigraphy and sedimentology of the Waitemata Group, Puketotara Peninsula, Northland
- Author
- Arlidge E. Z.
- Ballance P. F.
- Bartrum J. A.
- Bartrum J. A.
- Black Phillipa M.
- Brothers R. N.
- Coombs D. S.
- Dott R. H.
- Ferrar H. T.
- Friedman G. M.
- Grant-Mackie J. A.
- Gregory M. R.
- Grivakov A. G.
- Jones B. G.
- Kuenen Ph. H.
- Laws C. R.
- Le Couteur P. C.
- Leitch E. C.
- Marshall P.
- Mayer W.
- McBride E. F.
- Park J.
- Pettijohn F. J.
- Pittman E. D.
- Schofield J. C.
- Shepard F. P.
- Shepard F. P.
- Shepard F. P.
- Williams H.
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
Risk of Bias in Systematic Reviews of Non-Randomized Studies of Adverse Cardiovascular Effects of Thiazolidinediones and Cyclooxygenase-2 Inhibitors: Application of a New Cochrane Risk of Bias Tool
- Author
- AM Walker
- Anja Bilandzic
- C Emmett
- C Staton
- CE Koro
- CR Dormuth
- D Bilik
- DA Wertz
- David Henry
- DH Solomon
- DH Solomon
- DJ Graham
- DJ Graham
- DJ Margolis
- DJ Watson
- DN Juurlink
- DV Cicchetti
- F-Y Hsiao
- G Singh
- GA Wells
- GH Gislason
- HC Sox
- HC Van Spall
- I Tzoulaki
- J Deeks
- J Hippisley-Cox
- JP Curtis
- JPT Higgins
- JR Landis
- JS Brownstein
- K Pantalone
- KM Stockl
- LA García Rodríguez
- LA García Rodríguez
- Laura Rosella
- LE Lévesque
- LL Lipscombe
- LM Fischer
- M Egger
- M Mamdani
- MC Sturkenboom
- N Black
- N Ziyadeh
- P Jüni
- P McGettigan
- P McGettigan
- P McGettigan
- P Whiting
- PC Austin
- Phillipa J. Hay
- PM Rothwell
- RG Schlienger
- S Bak
- S Bernatsky
- S Golder
- S Kalkhoran
- S Sanderson
- S Schneeweiss
- SE Kimmel
- SE Kimmel
- SE Nissen
- SH Downs
- SP Johnsen
- SV Katikireddi
- Tiffany Fitzpatrick
- TM MacDonald
- WA Ray
- WA Ray
- WC Winkelmayer
- YK Loke
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- Field of study
Whole-genome sequencing reveals host factors underlying critical COVID-19
- Author
- Abd Elghafar Mohamed S.
- Abdel-Aziz Mahmoud
- Abdelrazik Marwa
- Abdollahi Hamed
- Abdullah T.
- Abecasis Goncalo
- Abedalthagafi M.
- Abel Lynn
- Abernathy C.
- Abraheem Azmeralde
- Abul-Husn Noura S.
- Acquilini D.
- Adams C.
- Adams Emma L.
- Adams K.
- Adamsara Alireza
- Adanini Olurenke
- Adeleye O.
- Adra D.
- Afilalo J.
- Afilalo M.
- Afolabi D.
- Afrasiabi Z.
- Agasou A.
- Agrawal Shruti
- Agüero D.
- Ahmad N.
- Ahmadi Saeideh
- Ahmed A.
- Ahmed Cecilia
- Akeroyd L.
- Akhtar M.N.
- Akinkugbe O.
- Aksentijevich Alexandra
- Al-Afghani H.
- Al-Awdah L.
- Alaamery M.
- Alahmadey Z.Z.
- Alaverdian D.
- Alavere H.
- Albader A.
- Albaiceta G.M.
- Albakri J.K.
- AlBardis H.
- Albeladi M.
- Albesher N.
- Albrich W.
- AlDhawi N.
- Aldridge J.
- Aleagha Afshar Etemadi
- Alexander Peter.
- Alfonso J.
- Alghamdi B.
- Alghamdi J.
- Ali A.
- Ali Altaf
- Ali I.A.M.
- Ali Syamlan
- Aliannejad Rasoul
- Aljawini N.
- AlJohani S.
- Alkwai S.
- Allan A.
- Allan E.
- Allan J.
- Alldis Zoe
- Allen L.
- Allen Meryem
- Allen Schvearn
- Allibone S.
- Allison K.S.
- Allos R.
- Ally S.M.
- AlMalik A.
- Almalki F.
- Almohammed I.
- Almutairi M.
- Alotaibi S.
- Alowayn A.M.
- Alqahtani S.
- Alqubaishi F.
- Alrashed M.
- Alshareef A.
- Alsolm E.
- Alswailm M.
- Altabaibeh A.
- Alvaro A.
- AlZahrani D.
- Amin V.
- Amirsavadkouhi Ali
- Amitrano Sara
- Anastasescu E.
- Anderson F.
- Anderson J.
- Anderson Madeleine
- Anderson Peter
- Anderson S.
- Anderson S.
- Anderson T.
- Andolfo I.
- Andretta F.
- Andreucci E.
- Andrew Angela
- Andrew B.
- Andrew Gratrix
- Andrews E.
- Andrews Shea J.
- Anedda F.
- Anemoli V.
- Annis A.
- Antcliffe David
- Antinori Andrea
- Antoni M.D.
- Anumakonda V.
- Apetri E.
- Aquino Maia
- Arabi Y.M.
- Aravindan Latha
- Arbane Gill
- Archer Katie
- Arden T.
- Arias Sonia Sousa
- Arif S.
- Armstrong Jacob
- Armstrong Lisa
- Armstrong Ruth
- Arning N.
- Arnold Sophie
- Arranz María Jesús
- Arribas E.
- Artuso R.
- Arumugam Prabhu
- Ascolillo Steven
- Ashraf Saima
- Ashton L.
- Aslibekyan S.
- Astin-Chamberlain Raine
- Atkinson E.G.
- Attwood B.
- Aucella F.
- Auld D.
- Auld F.
- Austin Karen
- Austin Pauline
- Auton A.
- Ayers A.
- Azarzar S.
- Bachetti T.
- Baikady R.R.
- Baillie John Kenneth
- Baines Balvinder
- Baines D.
- Baines K.
- Baird Yolanda
- Bakthavatsalam Dhanalakshmi
- Balaconis Mary K.
- Baldassarri M.
- Ball C.A.
- Baltzell A.H.
- Bamford A.
- Bamford Peter
- Banach Dorota
- Bancroft Hollie
- Band G.
- Bandini M.
- Bandla Nageswar
- Bano S.
- Baptista David
- Barakeh D.
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- Bartels M.
- Bartley Shauna
- Baruah R.
- Bashyal Archana
- Basikolo C.
- Bassetti M.
- Bastion V.
- Bates H.
- Bates Michelle
- Batini Chiara
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- Bauchmuller K.
- Baxter N.
- Baya N.
- Bayo L.A.
- Beadle Jane
- Bean S.
- Beaumont K.
- Beavis S.
- Beck A.
- Beckmann Noam D.
- Bedini J. L.
- Bee Catherine E.
- Beech E.
- Beech Valerie
- Beekes M.
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- Begg Colin
- Beguin Y.
- Behan T.
- Beith C.M.
- Belagodu Zakaula
- Belbin Gillian Morven
- Belfield H.
- Belhaj Y.
- Beligni G.
- Belisle A.
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- Bellamy Mary
- Belli M.A.
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- Below Jennifer
- Bemand T.
- Benetti E.
- Benham Leonie
- Bennett D.
- Bennett Sara
- Bentley David
- Bentley M.
- Benyon S.
- Beranova E.
- Bercades G.
- Bergantini L.
- Bergomi P.
- Berkowitz Nathan
- Bernardo D.
- Bevan E.
- Bewley J.
- Bhatia Nikhil
- Bhatterjee Ravi
- Bhuie Parminder
- Bi R.
- Biagio A.D.
- Bianchi F.
- Bibert S.
- Bibi Fatima
- Biddle Jack
- Biggs Heather
- Birch J.
- Birch J.
- Birch Sophie.
- Birchall K.
- Birchall K.
- Bird S.
- Birkinshaw Isobel
- Birt M.
- Biscarini F.
- Black E.
- Black K.
- Blackledge B.
- Blackman H.
- Blakemore H.
- Blay Natalia
- Blow Sara
- Blunt M.
- Board S.
- Bochud P.Y.
- Bociek Aneta
- Boezen M.
- Boillat N.
- Bokhari M.
- Bolton Matthew
- Bolton Rachel
- Bonner Stephen
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- Borislavova B.
- Borra Catherine
- Botello A.
- Botfield Liam
- Bottà G.
- Bouab M.
- Bough L.
- Boughton A.P.
- Bowes A.
- Bowles Ruth
- Boyle P.
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- Bradley-Potts Joanne
- Bradshaw Zena
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- Branney D.
- Brantwood Craig
- Brassard N.
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- Brealey D.
- Bremmer P.
- Brenner B.
- Bretherick Andrew D.
- Brett Michael
- Brett Stephen
- Brickell K.
- Bridgett V.
- Brimfield Lutece
- Brinkworth Elaine
- Briton Kate
- Britvan Bari
- Bromley M.
- Brooke Hollie
- Brooks S.
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- Brown Adam
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- Bruce M.
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- Busani S.
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- Butler Aaron
- Butler Joanna
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- Cabrelli Louise
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- Callaghan Marie
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- Castaño-Vinyals G.
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- Castle K.
- Castori M.
- Caswell Melanie
- Catena E.
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- Cavazza Anna
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- Ceri S.
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- Chadbourn Indra
- Chamnanphon Monpat
- Chan Georgia
- Chan R.
- Chandler B.
- Chang Xiao
- Chapman Susan
- Chariyavilaskul Pajaree
- Charles B.
- Charlesworth Ruth
- Charney Alexander W.
- Charnock R.
- Chasman D.I.
- Chassé M.
- Chaudhary Kumardeep
- Chavan S.
- Cheema Yusuf
- Chen Hung-Hsin
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- Cheyne C.
- Childs D.
- Chittoor G.
- Cho Judy H.
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- Choi Sam
- Choudhury Yasmin
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- Churchhouse C.
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- Claassen S.
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- Cockrell Maeve
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- Collins Rebecca
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- Convery K.
- Conyngham J.A.
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- Cordioli Mattia
- Cornell S.
- Corral M.A.
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- Cortés B.
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- Cother Naiara
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- Coulding Martina
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- Curgenven H.
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- Daglish Jacqueline
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- de Gordoa Laura Ortiz-Ruiz
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- Duffy Katharine
- Duffy Stacey
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- Duncan Esther
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- Elgar Greg
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- Elliott Paul
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- Farré X.
- Farzad Z.
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- Faulkner Maria
- Fava F.
- Fawkes Angie
- Fawns-Ritchie Chloe
- Fawzy M.S.
- Fearby M.
- Felemban W.A.
- Felton Timothy
- Feng Y.C.A.
- Ferguson S.
- Feri M.
- Fernandes K.
- Fernandes Rita
- Fernandez Ziortza
- Fernandez-Cadenas Israel
- Fernandez-Roman Jaime
- Ferreira Manuel A.R.
- Ferri C.
- Fidler K.
- Filipe H.
- Filshtein-Sonmez T.
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- Findlay L.
- Fine Christopher
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- Finernan Paul
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- Fiorentino G.
- Fisher Emma
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- Fletcher Jo
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- Folkes Linda
- Foote D.
- Ford A.
- Forgetta V.
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- Fotiadis Stavros
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- Fourman Max Head
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- Frater Alasdair
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- Frise Matthew
- Frithiof R.
- Frost Victoria
- Frullanti E.
- Fuller Bridget
- Furini S.
- Furlong Anita
- Furniss James
- Gabbi C.
- Gabrieli A.
- Gaddis Michael
- Gales A.
- Gallagher Bernadette
- Galván-Femenía I.
- Ganesan Arunkumar
- Ganna Andrea
- Garcia S.M.
- Garcia-Aymerich Judith
- García-Clemente M.
- García-Madrona S.
- Gardner Amy
- Garg Atul
- Garland Z.
- Garner L.
- Garrioch S.
- Gascoyne R.
- Gass M.C.
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- Åsvold Bjørn Olav
- Publication venue
- Publication date
- 01/01/2022
- Field of study
Altres ajuts: Department of Health and Social Care (DHSC); Illumina; LifeArc; Medical Research Council (MRC); UKRI; Sepsis Research (the Fiona Elizabeth Agnew Trust); the Intensive Care Society, Wellcome Trust Senior Research Fellowship (223164/Z/21/Z); BBSRC Institute Program Support Grant to the Roslin Institute (BBS/E/D/20002172, BBS/E/D/10002070, BBS/E/D/30002275); UKRI grants (MC_PC_20004, MC_PC_19025, MC_PC_1905, MRNO2995X/1); UK Research and Innovation (MC_PC_20029); the Wellcome PhD training fellowship for clinicians (204979/Z/16/Z); the Edinburgh Clinical Academic Track (ECAT) programme; the National Institute for Health Research, the Wellcome Trust; the MRC; Cancer Research UK; the DHSC; NHS England; the Smilow family; the National Center for Advancing Translational Sciences of the National Institutes of Health (CTSA award number UL1TR001878); the Perelman School of Medicine at the University of Pennsylvania; National Institute on Aging (NIA U01AG009740); the National Institute on Aging (RC2 AG036495, RC4 AG039029); the Common Fund of the Office of the Director of the National Institutes of Health; NCI; NHGRI; NHLBI; NIDA; NIMH; NINDS.Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care or hospitalization after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes-including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)-in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
1997 Amerasia Journal
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- Abueg Francis R
- Adachi Nobuhiro
- Alba Richard D
- Alexander
- Alexander Meena
- Ali Mehmed
- Aliani Ayesha
- Allen James P
- Allen James P
- Allibhai Gulshan
- Almeida Rhea
- Almendraia Laarni C
- Amerman Stephen Kent
- Ang Len
- Aquilar D.
- Archibold Randal C
- Archibold Randal C
- Asian Pacific American
- Astin Helen S
- Ayuyang Rachelle Q
- Babich Phillip
- Bacho Peter
- Bacon Jean Leslie
- Bahri
- Bahri Deepika
- Baird V.
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- Bankston Carl L
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- So Christine
- Sodowsky Gargi Roysircar
- Sohng Sue
- Sonenshein Raphael J
- Song Young I
- Sorenson Susan B
- Spencer Jon Michael
- Spickard
- Spickard
- Spring Marline
- Ssasz F. M.
- Standen
- Stanley T. J.
- Steele Matthew S
- Stokes Larry D
- Stolzenberg R. M.
- Stone Sherry
- Stuhr-Rommereim Rebecca
- Sturma Michael
- Su Z. X.
- Sue David
- Suguro Ed.
- Sun Lena H
- Sun Teresa
- Sun W. Y.
- Tafarrodi Zahra Niccu
- Taira D. A.
- Takagi Dana
- Takagi Tani
- Takahashi Jere
- Takanashi Kelly Kiku
- Tam C. F.
- Tam Reuben
- Tamaki Julie
- Tan Amy
- Tan Benghoe
- Tan Michael L
- Tawa Renee
- Taylor Charles R
- Tempest Rone
- Tempo Phyllis M
- Thiesmeyer Lynn
- Thompson Bryan
- Thongthiraj Rapeepanchanok Malinee
- Thornton Michael C
- Ting Joshua
- Tiongson Amy E
- Tokaji Daniel P
- Torok John Hayakawa
- Trask H.
- Trask Haunani-Kay
- Travisrobyns S. R
- True Reiko Homma
- Tsang Daniel C
- Tseuneyoshi Sandy
- Tsui Kitty
- Tuttle C. R.
- Tyau Kathleen
- Tyner J.
- Ubalde Anatalio
- Um Shin Ja
- Unrau Harlan D
- Valverde
- Van Zevern Claire
- Varma S. C.
- Velasco J. D.
- Vengco-Dalan Janette
- Verduyn Christl
- Vigd James Diego
- Vogt Gayle H
- Vorachack Karla
- Waldinger Roger David
- Walker Adrian
- Wallace Steven P
- Wang Karin
- Wang L.
- Wang Ping
- Watada Terry
- Watanabe S.
- Watkins
- Wechsler Jeffrey
- Wei Virginia W
- Weinberg Meyer
- Weiss Kenneth R
- Weiss Rachel
- West J.
- Westermeyer Joseph
- Whang Patricia A
- Williams Dave
- Williams Raymond Brady
- Wink P. B.
- Wong Janet S
- Wong K. Scott.
- Wong Nellie
- Wong Steve
- Woo Deborah
- Woodland Hills California
- Woods L. Shelton.
- Woods Ruth Dial
- Wright Richard A
- Wrobleski David Eugene
- Wrynn Alison M
- Wu
- Wu Cheryl
- Xiaojing Zhou
- Xin K. R.
- Xinyang Wang
- Xu G.
- Xu Wu
- Yamamoto Eric K
- Yang Belle
- Yang Haiou
- Yang Hyunah
- Yang Jeff
- Yatabe Suzie
- Yau John
- Yeh C. J.
- Yen Alfred C
- Yen Judy
- Yew Chay
- Ying Yu-Wen
- Yip Alethea
- Yip Alethea
- Yip Alethea
- Yogi Stan
- Yokota Kariann Akemi
- Yoo David
- Yoo David
- Yoon In-Jin
- Yoon In-Jin
- Yoshimi Jeff
- Yoshino Ronald W
- Yu Henry
- Yu Ning
- Yu Ping
- Yuen N.
- Yukawa Joyce
- Zack Naomi
- Zhou Min
- Znah Lin
- Publication venue
- 'UCLA American Indian Studies Center'
- Publication date
- Field of study