151 research outputs found
Riemann-Hilbert problems from Donaldson-Thomas theory
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/04/2019
- Field of study
We study a class of Riemann-Hilbert problems arising naturally in Donaldson-Thomas theory. In certain special cases we show that these problems have unique solutions which can be written explicitly as products of gamma functions. We briefly explain connections with Gromov-Witten theory and exact WKB analysis
Inhibition of Post-Synaptic Kv7/KCNQ/M Channels Facilitates Long-Term Potentiation in the Hippocampus
- Author
- A Destexhe
- A Fontan-Lozano
- A Peretz
- AA Prinz
- AI Levey
- AJ Giessel
- AL Hodgkin
- Andrew D. Randall
- AV Tzingounis
- AV Tzingounis
- B Dean
- BC Schroeder
- BC Suh
- BC Suh
- Bernard Attali
- BJ Lampe
- BL Bloodgood
- C Charlier
- C Yue
- DA Brown
- DV Madison
- ES Faber
- ES Faber
- EW Boddeke
- GH Seol
- H Hu
- H Markram
- H Tsubokawa
- H Zhang
- HC Peters
- HP Robinson
- J Harvey
- J Nowacki
- J Wess
- Jack R. Mellor
- Jakub Nowacki
- JT Brown
- JT Brown
- KA Buchanan
- KA Buchanan
- Krasimira Tsaneva-Atanasova
- M Ma
- M Martire
- M Yamasaki
- Milos M. Petrovic
- MJ Marino
- MK Song
- MM Oh
- MM Shah
- MV Soldovieri
- N Gu
- N Gu
- NA Singh
- NV Marrion
- S Oldfield
- SG Anagnostaras
- T Behnisch
- T Shinoe
- TJ Ngo-Anh
- Valeria Olivo
- VB Aramakis
- WW Wu
- Y Li
- Publication venue
- Public Library of Science
- Publication date
- 01/02/2012
- Field of study
Activation of muscarinic acetylcholine receptors (mAChR) facilitates the induction of synaptic plasticity and enhances cognitive function. In the hippocampus, M1 mAChR on CA1 pyramidal cells inhibit both small conductance Ca2+-activated KCa2 potassium channels and voltage-activated Kv7 potassium channels. Inhibition of KCa2 channels facilitates long-term potentiation (LTP) by enhancing Ca2+calcium influx through postsynaptic NMDA receptors (NMDAR). Inhibition of Kv7 channels is also reported to facilitate LTP but the mechanism of action is unclear. Here, we show that inhibition of Kv7 channels with XE-991 facilitated LTP induced by theta burst pairing at Schaffer collateral commissural synapses in rat hippocampal slices. Similarly, negating Kv7 channel conductance using dynamic clamp methodologies also facilitated LTP. Negation of Kv7 channels by XE-991 or dynamic clamp did not enhance synaptic NMDAR activation in response to theta burst synaptic stimulation. Instead, Kv7 channel inhibition increased the amplitude and duration of the after-depolarisation following a burst of action potentials. Furthermore, the effects of XE-991 were reversed by re-introducing a Kv7-like conductance with dynamic clamp. These data reveal that Kv7 channel inhibition promotes NMDAR opening during LTP induction by enhancing depolarisation during and after bursts of postsynaptic action potentials. Thus, during the induction of LTP M1 mAChRs enhance NMDAR opening by two distinct mechanisms namely inhibition of KCa2 and Kv7 channels
Performance of the CMS Cathode Strip Chambers with Cosmic Rays
- Author
- Abadjiev K
- Abbaneo D
- Abbiendi G
- Abbrescia M
- Abdullin S
- Abelev B
- Acosta D
- Acosta JG
- Acosta MV
- Actis O
- Adam N
- Adam W
- Adams MR
- Adams T
- Adiguzel A
- Adler V
- Adolphi R
- Adzic P
- Afaq MA
- Agostino L
- Agram JL
- Aguilar-Benitez M
- Ahmad M
- Ahmad WH
- Ahmed I
- Ahmed W
- Ahuja S
- Aisa D
- Aisa S
- Akchurin N
- Akgun B
- Akgun U
- Akimenko S
- Akin IV
- Alagoz E
- Alampi G
- Albajar C
- Albayrak EA
- Alberdi J
- Albergo S
- Albert E
- Albrow M
- Alexander J
- Alidra M
- Aliev T
- Allfrey P
- Almeida N
- Altenhofer G
- Altsybeev I
- Alver B
- Alverson G
- Alves GA
- Amaglobeli N
- Amapane N
- Ambroglini F
- Amsler C
- Anagnostou G
- Ananthan B
- Anastassov A
- Andelin D
- Anderson M
- Andrea J
- Andreev V
- Andreev Y
- Anghel IM
- Anguelov T
- Anh T. Vu
- Anisimov A
- Antillon E
- Antipov P
- Antonelli L
- Anttila E
- Antunes JR
- Antunovic Z
- Apanasevich L
- Apollinari G
- Apresyan A
- Arce P
- Arcidiacono R
- Arenton MW
- Arfaei H
- Argiro S
- Arisaka K
- Arneodo M
- Arnold B
- Arora S
- Artamonov A
- Asaadi J
- Asghar MI
- Ashby S
- Askew A
- Atac M
- Atramentov O
- Auffray E
- Aurisano A
- Autermann C
- Avery P
- Avetisyan A
- Avila C
- Awan MIM
- Ayan AS
- Ayhan A
- Azhgirey I
- Aziz T
- Azzi P
- Azzurri P
- Baarmand MM
- Babb J
- Babucci E
- Baccaro S
- Bacchetta N
- Bacchi W
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- Baden D
- Badgett W
- Baechler J
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- Baffioni S
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- Bahk SY
- Bailleux D
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- Bainbridge R
- Bakhshiansohi H
- Bakirci MN
- Bakken JA
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- Baldin B
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- Tyurin N
- Tzeng YM
- Uchida K.
- Ueda I.
- Ueno K
- Ugland M.
- Uhl D
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- Uhrmacher M.
- Ujvari B
- Ukegawa F.
- Ulmer K
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- van Vulpen I.
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- Verdini PG
- Verducci M.
- Veres GI
- Vergili LN
- Vergili M
- Verkerke W.
- Vermeulen J. C.
- Verrecchia P
- Verwilligen P
- Veszpremi V
- Vesztergombi G
- Vetterli M. C.
- Veverka J
- Vichou I.
- Vicini A
- Vickey T.
- Vidal R
- Viegas F. J. Tique Aires
- Viehhauser G. H. A.
- Vila I
- Villa M.
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- Villella I
- Vilucchi E.
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- Vinek E.
- Vinogradov A
- Vinogradov V. B.
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- Viret S.
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- Virzi J.
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- Vitale A.
- Vitells O.
- Vitulo P
- Vivarelli I.
- Viviani C
- Vlachos S.
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- Vlimant JR
- Vodopiyanov I
- Vogel A.
- Vogel H
- Vokac P.
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- Volkov S
- Volobouev I
- Volodko A
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- Volpi M.
- Volyanskyy D
- von der Schmitt H.
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- Vorobiev I
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- Wang S. M.
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- Wastie R.
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- Weingarten J.
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- Wells P. S.
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- White M. J.
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- Whittington D.
- Whyntie T
- Wicek F.
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- Wiedenmann W.
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- Wiik L. A. M.
- Wildauer A.
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- Williams E.
- Williams G
- Williams H. H.
- Williams JC
- Williams JH
- Willmott C
- Willocq S.
- Wilson A.
- Wilson J. A.
- Wilson M. G.
- Wimpenny S
- Wingerter-Seez I.
- Wingham M
- Winklmeier F.
- Winn D
- Wissing C
- Witherell M
- Wittgen M.
- Wittich P
- Wittmer B
- Wlochal M
- Wohri HK
- Wolf R
- Wolter M. W.
- Wolters H.
- Womersley WJ
- Won S
- Wood JS
- Worm SD
- Wosiek B. K.
- Wotschack J.
- Woudstra M. J.
- Wraight K.
- Wright C.
- Wright D
- Wright D.
- Wrochna G
- Wrona B.
- Wu S
- Wu S. L.
- Wu W
- Wu X.
- Wulf E.
- Wulz CE
- Wurthwein F
- Wynne B. M.
- Wyslouch B
- Xaplanteris L.
- Xella S.
- Xie S
- Xie S.
- Xie Z
- Xu D.
- Xu N.
- Xue Z
- Yagil A
- Yamada M.
- Yamamoto A
- Yan M
- Yang X
- Yang Y
- Yang ZC
- Yarba J
- Yaselli I
- Yazgan E
- Yelton J
- Yetkin T
- Yi K
- Yilmaz Y
- Yohay R
- Yoo HD
- Yoon AS
- York A
- Yumiceva F
- Yun JC
- Yuste C
- Zabi A
- Zabolotny W
- Zachariadou A
- Zalewski P
- Zampieri A
- Zanetti M
- Zang SL
- Zarubin A
- Zatzerklyany A
- Zeidler C
- Zeinali M
- Zeise M
- Zelepoukine S
- Zeuner WD
- Zeyrek M
- Zhang J
- Zhang L
- Zhang Y
- Zhang Z
- Zheng Y
- Zhiltsov V
- Zhokin A
- Zhu B
- Zhu K
- Zhu RY
- Zhukov V
- Zhukova V
- Ziebarth EB
- Zielinski M
- Zilizi G
- Zinonos Z
- Zito G
- Zoeller MH
- Zotto P
- Zub S
- Zumerle G
- Zuranski A
- Zuyeuski R
- Zych P
- Publication venue
- 'IOP Publishing'
- Publication date
- 01/01/2009
- Field of study
The Cathode Strip Chambers (CSCs) constitute the primary muon tracking device
in the CMS endcaps. Their performance has been evaluated using data taken
during a cosmic ray run in fall 2008. Measured noise levels are low, with the
number of noisy channels well below 1%. Coordinate resolution was measured for
all types of chambers, and fall in the range 47 microns to 243 microns. The
efficiencies for local charged track triggers, for hit and for segments
reconstruction were measured, and are above 99%. The timing resolution per
layer is approximately 5 ns
Promoting optimal parenting and childrenâs mental health : a preliminary evaluation of the How-to Parenting Program
- Author
- A Faber
- A Faber
- A Faber
- A Lohaus
- B Soenens
- B Soenens
- B Soenens
- B Soenens
- B Soenens
- BK Barber
- BK Barber
- BK Barber
- C MacKinnon-Lewis
- D Baumrind
- D Baumrind
- D Watson
- DL Olds
- DS Arnold
- E Costello
- E Diener
- EE Maccoby
- EE Maccoby
- EF Vallières
- EL Cowen
- EL Cowen
- EL Deci
- EL Deci
- EL Deci
- ES Schaefer
- ES Schaefer
- EW McCranie
- F Guay
- F Heider
- G Parker
- GC Williams
- GC Williams
- Geneviève A. Mageau
- GR Patterson
- GS Pettit
- GW Albee
- H Jang
- HG Ginott
- HG Ginott
- HG Ginott
- HL Egger
- J Cohen
- J Garber
- J Laurent
- J Reeve
- J Reeve
- J-J Breton
- JJ Wood
- JR Weisz
- JS Eccles
- JS Silk
- JW Kaminski
- K Aunola
- KJ Conger
- L Krebs
- L Steinberg
- L Steinberg
- LV Scaramella
- M Downie
- M Dwairy
- M Gagne
- M Joussemet
- M Joussemet
- M Joussemet
- M Joussemet
- M Rosenberg
- M-H Veronneau
- ME Seligman
- Mireille Joussemet
- MR Blais
- MR Gray
- MR Herman
- N Ballash
- N Eisenberg
- N Eisenberg
- N Ialongo
- NICHD Early Child Care Research Network
- NL Galambos
- P Bronstein
- P Bronstein
- P Prinzie
- PM Cole
- R Fauber
- R Koestner
- R Thomas
- RA Fabes
- RE Tremblay
- Richard Koestner
- RM Rapee
- RM Ryan
- RM Ryan
- RW Roeser
- SD Lamborn
- SL Pong
- SP Hinshaw
- SS Havighurst
- ST Gurland
- TM Achenbach
- TM Achenbach
- WC Becker
- WS Grolnick
- WS Grolnick
- WS Grolnick
- WS Grolnick
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 24/04/2013
- Field of study
Parenting quality is widely accepted as a primary predictor of childrenâs mental health. The present study examined the effectiveness of a parenting program in fostering optimal parenting and child mental health. The selected program was How to talk so kids will listen & listen so kids will talk (How-to Parenting Program). This program was selected because its content corresponds closely to what the parenting style literature suggests is optimal parenting (i.e., includes structure, affiliation and autonomy support). Eleven groups of six to twelve parents were conducted in 7 local grade schools. The program, offered by two trained leaders, consisted of eight weekly sessions and taught a total of 30 skills. A total of 82 parents completed questionnaires both prior to and after the program. Participantsâ children between eight and 12 years old (N = 44) completed questionnaires at school, at both assessment points. Repeated measures ANOVAs using parent reports indicated that structure, affiliation and autonomy support were increased after the program, compared to baseline. The level of child internalizing and externalizing problems also decreased significantly. Importantly, children reports confirmed that parental autonomy support increased from pre to post-test and child-reported well-being improved as well. The preliminary evidence from this pre-test versus post-test repeated measures design suggests that the How-to Parenting Program is effective in improving parenting style and in promoting childrenâs mental health and that future evaluation research examining the potential of this program is warranted
Synergistic Activation of Dopamine D1 and TrkB Receptors Mediate Gain Control of Synaptic Plasticity in the Basolateral Amygdala
- Author
- AJ McDonald
- AL Purcell
- C Gao
- CH Lin
- Chenchen Li
- DG Rainnie
- DG Rainnie
- DG Rainnie
- DM Jaworski
- Donald G. Rainnie
- DS Middlemas
- EC Muly
- ES Faber
- EW Lamont
- G Martel
- G Musumeci
- G Nagappan
- GE Schafe
- GE Schafe
- H Gurden
- H Takahashi
- J Dabrowska
- J Yang
- JC Zhang
- JI Rossato
- JJ Hwang
- JM Conner
- Joanna Dabrowska
- JP Fadok
- JW Wright
- KA Goosens
- KK Cowansage
- KM Huber
- LC Ou
- LM Rattiner
- LM Rattiner
- LR Reznikov
- LY Chen
- M Hartmann
- M Kim
- Masabumi Minami
- MF Braga
- MH Monfils
- MK Christensen
- MT Rogan
- ND Volkow
- NH Woo
- P Okulski
- P Paoletti
- PT Pang
- PV Nguyen
- PV Nguyen
- Q Greba
- R Andero
- R Lee
- R Pawlak
- Rimi Hazra
- RM Shin
- S Li
- SA Kodirov
- T Jovanovic
- T Muller
- T Seidenbecher
- TE Madsen
- TJ O'Dell
- U Zirrgiebel
- VM Pickel
- Y Humeau
- Y Iwakura
- Y Kovalchuk
- YY Huang
- YY Huang
- YZ Huang
- Publication venue
- Public Library of Science
- Publication date
- 14/10/2011
- Field of study
Fear memory formation is thought to require dopamine, brain-derived neurotrophic factor (BDNF) and zinc release in the basolateral amygdala (BLA), as well as the induction of long term potentiation (LTP) in BLA principal neurons. However, no study to date has shown any relationship between these processes in the BLA. Here, we have used in vitro whole-cell patch clamp recording from BLA principal neurons to investigate how dopamine, BDNF, and zinc release may interact to modulate the LTP induction in the BLA. LTP was induced by either theta burst stimulation (TBS) protocol or spaced 5 times high frequency stimulation (5xHFS). Significantly, both TBS and 5xHFS induced LTP was fully blocked by the dopamine D1 receptor antagonist, SCH23390. LTP induction was also blocked by the BDNF scavenger, TrkB-FC, the zinc chelator, DETC, as well as by an inhibitor of matrix metalloproteinases (MMPs), gallardin. Conversely, prior application of the dopamine reuptake inhibitor, GBR12783, or the D1 receptor agonist, SKF39393, induced robust and stable LTP in response to a sub-threshold HFS protocol (2xHFS), which does not normally induce LTP. Similarly, prior activation of TrkB receptors with either a TrkB receptor agonist, or BDNF, also reduced the threshold for LTP-induction, an effect that was blocked by the MEK inhibitor, but not by zinc chelation. Intriguingly, the TrkB receptor agonist-induced reduction of LTP threshold was fully blocked by prior application of SCH23390, and the reduction of LTP threshold induced by GBR12783 was blocked by prior application of TrkB-FC. Together, our results suggest a cellular mechanism whereby the threshold for LTP induction in BLA principal neurons is critically dependent on the level of dopamine in the extracellular milieu and the synergistic activation of postsynaptic D1 and TrkB receptors. Moreover, activation of TrkB receptors appears to be dependent on concurrent release of zinc and activation of MMPs
Dark Matter in the Milky Way's Dwarf Spheroidal Satellites
- Author
- A Boyarsky
- A Boyarsky
- A Boyarsky
- A Boyarsky
- A Boyarsky
- A Burkert
- A Charbonnier
- A Duquennoy
- A El-Zant
- A Geringer-Sameth
- A Klypin
- A Klypin
- A Koch
- A Koch
- A Koch
- A Kusenko
- A Loeb
- A Popolo Del
- AE Schweitzer
- AG Wilson
- AM Green
- AP Huxor
- AS Font
- AV Macciò
- AV Macciò
- AW McConnachie
- AW McConnachie
- AW McConnachie
- B Moore
- B Willman
- C BĹhm
- C Palma
- C Pryor
- C Tonini
- CJ Grillmair
- CJ Walcher
- CL Bennett
- CT Slater
- D AdĂŠn
- D AdĂŠn
- D Hooper
- D Lynden-Bell
- D Queloz
- DB Zucker
- DB Zucker
- DN Spergel
- DN Spergel
- DNC Lin
- DO Richstone
- DR Cole
- DR Law
- E Polisensky
- E Romano-DĂaz
- E Tolstoy
- EF Bell
- EJ Tollerud
- EL Ĺokas
- EN Kirby
- EN Kirby
- EP Hubble
- EW Olszewski
- EW Olszewski
- EW Olszewski
- F Donato
- F Governato
- FJ SĂĄnchez-Salcedo
- FW Stecker
- G Battaglia
- G Battaglia
- G Gilmore
- G Illingworth
- G Jungman
- G Lake
- G Vaucouleurs de
- GA Mamon
- GD Martinez
- GD Martinez
- GR Blumenthal
- GS Costa Da
- H Shapley
- H Shapley
- H Zhao
- HC Plummer
- HESS Collaboration
- I King
- I Saviane
- IR King
- J Binney
- J ChanamĂŠ
- J Diemand
- J Diemand
- J Dubinski
- J Heisler
- J Kleyna
- J Klimentowski
- J Kormendy
- J PeĂąarrubia
- J PeĂąarrubia
- J PeĂąarrubia
- J Wolf
- J-J Fleck
- JC Hargreaves
- JC Hargreaves
- JC Hargreaves
- JC Hargreaves
- JC Richardson
- JD Bekenstein
- JD Simon
- JD Simon
- JD Simon
- JE Gunn
- JE Gunn
- JE Norris
- JF Navarro
- JF Navarro
- JF Navarro
- JI Read
- JI Read
- JI Read
- JJ Dalcanton
- JL Carlin
- JL Feng
- JP Ostriker
- JR Kuhn
- JR Kuhn
- JS Kalirai
- JT Kleyna
- JT Kleyna
- JT Kleyna
- JT Kleyna
- JTA Jong de
- JW Moffat
- KB Westfall
- KS Oh
- KV Johnston
- L Hernquist
- L Mayer
- L Mayer
- L Pieri
- LE Strigari
- LE Strigari
- LE Strigari
- LE Strigari
- LE Strigari
- LE Strigari
- LL Watkins
- M Aaronson
- M Aaronson
- M Boylan-Kolchin
- M Coleman
- M Fabrizio
- M Geha
- M Irwin
- M Kaplinghat
- M Kuhlen
- M Loewenstein
- M Loewenstein
- M Mateo
- M Mateo
- M Mateo
- M Mateo
- M Metz
- M Milgrom
- M Niederste-Ostholt
- M Odenkirchen
- M Schwarzschild
- MG Coleman
- MG Coleman
- MG Lee
- MG Walker
- MG Walker
- MG Walker
- MG Walker
- MG Walker
- MG Walker
- MG Walker
- MG Walker
- MI Wilkinson
- MI Wilkinson
- MJ Irwin
- MJ Irwin
- ML Mateo
- MLM Collins
- MLM Collins
- MR Lovell
- NB Suntzeff
- NB Suntzeff
- NC Amorisco
- NF Martin
- NF Martin
- NF Martin
- NF Martin
- NF Martin
- NW Evans
- NW Evans
- OE Gerhard
- OY Gnedin
- OY Gnedin
- P Bode
- P Kroupa
- P Salucci
- P Seitzer
- PB Pal
- PB Stetson
- PG Bergmann
- PW Hodge
- PW Hodge
- PW Hodge
- PW Hodge
- PW Hodge
- PW Hodge
- PW Hodge
- QE Minor
- R Essig
- RA Flores
- RA Ibata
- RA Ibata
- RD Cannon
- RG Harrington
- RP Marel van der
- RR MuĂąoz
- RR MuĂąoz
- RR MuĂąoz
- RS Souza de
- RW Michie
- S Bergh van den
- S Dodelson
- S Hoerner von
- S Hofmann
- S Mashchenko
- S Mashchenko
- S Okamoto
- S Piatek
- S Piatek
- S Piatek
- S Piatek
- S Piatek
- S Tremaine
- SE Koposov
- SE Koposov
- SM Faber
- SM Walsh
- SR Majewski
- SR Majewski
- SR Majewski
- SR Majewski
- SS McGaugh
- SS Vogt
- ST Sohn
- T Goerdt
- T Goerdt
- T Sawala
- TE Armandroff
- TE Armandroff
- V Belokurov
- V Belokurov
- V Belokurov
- V Springel
- WE Harris
- WJG Blok de
- WJG Blok de
- WP Hodge
- X Hernandez
- X Wang
- Y-S Li
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/05/2012
- Field of study
The Milky Way's dwarf spheroidal satellites include the nearest, smallest and
least luminous galaxies known. They also exhibit the largest discrepancies
between dynamical and luminous masses. This article reviews the development of
empirical constraints on the structure and kinematics of dSph stellar
populations and discusses how this phenomenology translates into constraints on
the amount and distribution of dark matter within dSphs. Some implications for
cosmology and the particle nature of dark matter are discussed, and some
topics/questions for future study are identified.Comment: A version with full-resolution figures is available at
http://www.cfa.harvard.edu/~mwalker/mwdsph_review.pdf; 70 pages, 22 figures;
invited review article to be published in Vol. 5 of the book "Planets, Stars,
and Stellar Systems", published by Springe
Network or regression-based methods for disease discrimination: a comparison study
- Author
- AP Bradley
- D Heckerman
- EW Steyerberg
- F Briggs
- F Zhang
- FE Harrell Jr
- Fuzhong Xue
- G Bedogni
- H Kitano
- H Visser
- Hongkai Li
- J Hendriksen
- J Khan
- Jiadong Ji
- JL St Sauver
- JV Tu
- K Yonemori
- L Uusitalo
- M Mayr
- M Nguyen-Nielsen
- NM Faber
- P Aloy
- P Beltrao
- R Albert
- R Dybowski
- R Scheines
- S Dreiseitl
- S Lee
- T Hastie
- T Roos
- W Guthrie
- Xiaoshuai Zhang
- Zhongshang Yuan
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
- Author
- Aarsland D
- Abramzon Y
- Adams DJ
- Adeleye A
- Aguilar M
- Ahmed S
- Al-Chalabi A
- Al-Sarraj S
- Al-Sarraj S
- Alba C
- Alba C
- Albani D
- Albert MS
- Altschuler S
- Alvarez I
- Amar K
- Ambrose JC
- Archibald N
- Arcila-Londono X
- Arepalli S
- Aronica E
- Arumugam P
- Asress S
- Atassi N
- Attems J
- Auluck P
- Baas F
- Baas F
- Babu S
- Bacikova D
- Bacikova D
- Baloh RH
- Baloh RH
- Bandmann O
- Baple EL
- Barrett MJ
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- Zecca C
- Zhang B
- Zhang X
- Zinman L
- Ăijerstedt L
- Publication venue
- Neuron
- Publication date
- 01/01/2020
- Field of study
We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered
CMS Data Processing Workflows during an Extended Cosmic Ray Run
- Author
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- Publication venue
- INSTITUTE OF PHYSICS PUBLISHING
- Publication date
- 01/01/2009
- Field of study
Peer reviewe
Aligning the CMS Muon Chambers with the Muon Alignment System during an Extended Cosmic Ray Run
- Author
- Abadjiev K
- Abbaneo D
- Abbiendi G
- Abbrescia M
- Abdullin S
- Abelev B
- Acosta D
- Acosta JG
- Acosta MV
- Actis O
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- Adam W
- Adams MR
- Adams T
- Adiguzel A
- Adler V
- Adolphi R
- Adzic P
- Afaq MA
- Agostino L
- Agram JL
- Aguilar Benitez M
- Ahmad M
- Ahmad WH
- Ahmed I
- Ahmed W
- Ahuja S
- Aisa D
- Aisa S
- Akchurin N
- Akgun B
- Akgun U
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- Akin IV
- Alagoz E
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- Albayrak EA
- Alberdi J
- Albergo S
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- Alexander J
- Alidra M
- Aliev T
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- Almeida N
- Altenhofer G
- Altsybeev I
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- Alverson G
- Alves GA
- Amaglobeli N
- Amapane N
- Ambroglini F
- Amsler C
- Anagnostou G
- Ananthan B
- Anastassov A
- Andelin D
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- Andreev V
- Andreev Y
- Anghel IM
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- Publication venue
- Publication date
- 01/01/2009
- Field of study
Peer reviewe
- âŚ