9 research outputs found
Improving clinical trial design for Duchenne muscular dystrophy
- Author
- A Sansome
- AEH Emery
- AM Connolly
- AM Connolly
- AS Daftary
- B Balaban
- C Pellegrini
- C Sheridan
- DB Drachman
- DE Lebel
- EK Henricson
- EP Hoffman
- EP Hoffman
- EP Hoffman
- GT Carter
- H-v Enden AT den
- HL Peay
- I Sanzarello
- J Gayraud
- JC Bergen van den
- JC Deutekom van
- JR Mendell
- JR Mendell
- K Anthony
- K Bushby
- K Bushby
- K Bushby
- L Merlini
- L Merlini
- L Merlini
- LC McAdam
- LE Taylor
- Luciano Merlini
- M Kinali
- M Zatz
- MH Brooke
- NM Goemans
- Patrizia Sabatelli
- QL Lu
- RS Finkel
- RT Moxley 3rd
- S Bhagavati
- S Cirak
- S Houde
- S Lynn
- SD Wilton
- SD Wilton
- SL Parreira
- T Voit
- V Arechavala-Gomeza
- V Dubowitz
- W Cambridge
- WD Biggar
- WM King
- Y Ishikawa
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Hypermethylation of serotonin transporter gene in bipolar disorder detected by epigenome analysis of discordant monozygotic twins
- Author
- A Caspi
- A Caspi
- A Hayashi
- A Heils
- A Petronis
- A Rosa
- A Sakuntabhai
- AT Helderman-van den Enden
- C Kakiuchi
- CC Wong
- CE Bruder
- CM Connor
- DA Collier
- DM Cannon
- DM Cannon
- G Kuratomi
- H Kunugi
- H Sugawara
- HJ Cho
- I Kusumi
- IC Weaver
- IMH van
- J Mill
- J Mill
- JJ Mann
- KS Kendler
- L Kaplan
- L Pezawas
- LC Li
- MA Oquendo
- MF Fraga
- N Hozumi
- PG Surtees
- R Kaiser
- R Kaiser
- R Philibert
- R Uher
- RV Parsey
- S Colella
- S Kondo
- SE Baranzini
- SR Beach
- T Ichimiya
- T Kato
- T Kato
- V Arango
- WE Johnson
- XZ Hu
- Y Kumaki
- YH Chou
- ZA Kaminsky
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy
- Author
- A Aartsma-Rus
- A Asai
- A Mayhew
- AE Emery
- AH Beggs
- AJ Bella
- Alessandra Govoni
- AT Helderman-van den Enden
- Atsushi Nishida
- B Paepe De
- B Palmieri
- B Steffensen
- B Wang
- BL Gebski
- C BĂ©rard
- C Cárdenas
- C Lewis
- C Palma De
- C Pichavant
- C Sciorati
- CF Adkin
- CF Spurney
- Chiara Zanetta
- CM McDonald
- D Cacchiarelli
- D Li
- DP Judge
- DR Clemmons
- DS Bredt
- E Abdel-Salam
- E Mazzone
- E Mazzone
- E Mazzone
- EA Martin
- EM Welch
- ER Barton-Davis
- ES Mazzone
- F Dabertrand
- F Magri
- F Muntoni
- Francesca Magri
- FS Tedesco
- Giacomo P. Comi
- GM Buyse
- GM Buyse
- GP Kobinger
- GS Lynch
- H Heemskerk
- H Mizuno
- H Yin
- HA Heemskerk
- HM Moulton
- Irene Faravelli
- J DĂaz-Manera
- J Kirschner
- JC Van Deutekom
- JE Mayhew
- Jerry R Mendell
- JL Griffin
- JL Jefferies
- K Anthony
- K Anthony
- K Bushby
- K Bushby
- K Bushby
- K Bushby
- KE Davies
- L Politano
- L Wang
- L Wang
- M Belicchi
- M Kinali
- M Kinali
- M Sander
- MF Phillips
- MG D’Angelo
- N Dias
- N Liu
- Nereo Bresolin
- NM Goemans
- P Doran
- QL Lu
- R Benchaouir
- R Buono
- R Finkel
- R Finkel
- RJ Fairclough
- S Cirak
- S Consalvi
- S Iezzi
- S Iezzi
- S Rayavarapu
- SE Davis
- Simona Brajkovic
- Stefania Corti
- T Athanasopoulos
- T Yokota
- T Yokota
- TA Partridge
- TC Roberts
- V Arechavala-Gomeza
- V Malik
- V Straub
- WD Biggar
- Y Aoki
- Y Aoki
- Y Hu
- Y Torrente
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Mechanisms of trinucleotide repeat instability during human development
- Author
- A Entezam
- A Entezam
- A Khobta
- A Norremolle
- A Tripathi
- AA Shishkin
- AE Ashley-Koch
- AH Sarker
- AJ Morton
- AK Sullivan
- AM Parsons
- AR La Spada
- AT Helderman-van den Enden
- AV Goula
- B Kremer
- BA Owen
- BAL Owen
- C Guo
- C Hou
- C Lavedan
- C Masutani
- C Savouret
- C Savouret
- C Spiro
- CE Edmunds
- CJ Bontekoe
- CT McMurray
- Cynthia T. McMurray
- D Kumari
- DJ Pinder
- E Delagoutte
- E Dragileva
- E Grabczyka
- E Reyniers
- E Viguera
- EK Braithwaite
- EP Leeflang
- EV Mirkin
- G Jansen
- G Kulaksiz
- GB Panigrahi
- GJ Brock
- GM Samadashwily
- H Dou
- H Moore
- H Telenius
- H Telenius
- H-K Wong
- HE Malter
- HM Kim
- I Voineagu
- IV Kovtun
- IV Kovtun
- IV Kovtun
- IV Kovtun
- IV Kovtun
- IV Kovtun
- J Jung
- J Petruska
- JE Cleaver
- JK Schweitzer
- JP Slattery
- K Asagoshi
- K Manley
- K Sermon
- L Kennedy
- L Mangiarini
- L Martorell
- L Staresincic
- L Tian
- LA Henricksen
- LC Kroutil
- LS Waters
- LW Day
- M Fousteri
- M Gomes-Pereira
- M Gomes-Pereira
- M Rifé
- M Swami
- M Takao
- M Yoshimura
- MD Kaytor
- MJ Hartenstine
- MM Krasilnikova
- MT Fortune
- N De Temmerman
- N Dean
- N Engel
- N Fouché
- P Koefoed
- P Modrich
- PC Hanawalt
- PF Shelbourne
- R Gonitel
- RI Richards
- RK Wolff
- RT Libby
- RT Pomerantz
- RW Maul
- S Bjelland
- S Kang
- S Kang
- S Kaplan
- S Tomé
- SD McCulloch
- SM Mirkin
- SR Yoon
- SS Daube
- T Ashizawa
- T Nouspikel
- T Thorslund
- TA Kunkel
- TK Hazra
- V Dion
- V Rolseth
- VC Wheeler
- VC Wheeler
- WA Beard
- WJ van den Broek
- Y Gu
- Y Lin
- Y Lin
- Y Liu
- YH Fu
- YP Goldberg
- Z Yang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
De novo mutations in human genetic disease
- Author
- A Eyre-Walker
- A Goriely
- A Goriely
- A Goriely
- A Hodgkinson
- A Hoischen
- A Hoischen
- A Itsara
- A Itsara
- A Sirmaci
- AJ Sharp
- AM Pasmooij
- AS Kondrashov
- AS Kondrashov
- AT Helderman-van den Enden
- B Xu
- B Xu
- BJ O'Roak
- BJ O'Roak
- BM Neale
- C Gilissen
- C O'Dushlaine
- C Shaw-Smith
- C Webber
- CA Carlson
- CM Hultman
- CR Marshall
- D Pinto
- DA Koolen
- DA Koolen
- DA Koolen
- DF Conrad
- DJ Bunyan
- E Fragouli
- E Vanneste
- EH Cook Jr
- ER Londin
- F Baudat
- F Vogel
- F Zhang
- FF Hamdan
- FF Hamdan
- G Allen
- GM Cooper
- GV Kryukov
- GW Santen
- H Najmabadi
- H Stefansson
- Han G. Brunner
- HV Firth
- HV Toriello
- HY Lam
- I Iossifov
- IL Berg
- IL Berg
- J Gauthier
- J McClellan
- J McClellan
- J Sebat
- J van Echten-Arends
- J Zhang
- JB Rivière
- JBS Haldane
- JC Roach
- JF Crow
- Joris A. Veltman
- JR Vermeesch
- JY Hehir-Kwa
- KS Pollard
- L Ding
- L Loewe
- L Vadlamudi
- LELM Vissers
- LELM Vissers
- LELM Vissers
- LELM Vissers
- M Lynch
- M Meyerson
- MJ Bamshad
- MJ Lindhurst
- N Arnheim
- N Limaye
- Ni Huang
- P Awadalla
- P Liu
- Q Liang
- R Erickson
- R Grantham
- R Pamphlett
- S Aretz
- S Erten
- S Frank
- S Girirajan
- S Girirajan
- S Raychaudhuri
- S Tomé
- SB Ng
- SJ Sanders
- SL Girard
- SM Hussein
- SR Twigg
- TC Pansuriya
- V Ramensky
- Y Chen
- Y He
- Y Lo
- Y Tsurusaki
- Y Wang
- YM Lo
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2012
- Field of study
Item does not contain fulltextNew mutations have long been known to cause genetic disease, but their true contribution to the disease burden can only now be determined using family-based whole-genome or whole-exome sequencing approaches. In this Review we discuss recent findings suggesting that de novo mutations play a prominent part in rare and common forms of neurodevelopmental diseases, including intellectual disability, autism and schizophrenia. De novo mutations provide a mechanism by which early-onset reproductively lethal diseases remain frequent in the population. These mutations, although individually rare, may capture a significant part of the heritability for complex genetic diseases that is not detectable by genome-wide association studies
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
- Author
- Aaronson N
- Adank MA
- Andrews L
- Ardern-Jones A
- Ausems MG
- Axcrona K
- Bancroft E
- Bangma C
- Barwell J
- Boshari T
- Brady AF
- Brendler C
- Brewer C
- Buys SS
- Castro E
- Chamberlain A
- Chen-Shtoyerman R
- Conner T
- Cook J
- Copakova L
- Cremers R
- Cybulski C
- Dadaev T
- Davidson R
- Dearnaley D
- Dias A
- Domchek S
- Donaldson A
- Eccles D
- Eeles RA
- Evans DG
- Eyfjord J
- Falconer A
- Feliubadalo L
- Foster CS
- Foulkes WD
- Friedman E
- Gadea N
- Gallagher D
- Glover W
- Greenhalgh L
- Grindedal EM
- Gronberg H
- Hamdy FC
- Harris M
- Hart R
- Helderman-Van Den Enden AT
- Helfand BT
- Henderson A
- Izatt L
- James PA
- Jensen T
- Jobson I
- Johannsson O
- Kast K
- Khoo V
- Kiemeney LA
- Kirk J
- Kote-Jarai Z
- Lam J
- Leongamornlert DA
- Lilja H
- Liljegren A
- Lindeman GJ
- Lubinski J
- Maehle L
- Maia S
- McGrath J
- McKinley J
- Mikropoulos C
- Mitra AV
- Mora J
- Moss S
- Moynihan C
- Murphy D
- Murthy V
- Newlin AC
- Nicolai N
- Obeid E
- Oldenburg R
- Oosterwijk JC
- Osther PJ
- Pachter N
- Page E
- Pope J
- Powers J
- Rennert G
- Rhiem K
- Richardson K
- Ringelberg J
- Rosario DJ
- Rothwell J
- Ruijs M
- Salinas M
- Saya S
- Schmutzler R
- Selkirk CGH
- Shackleton K
- Side L
- Snape K
- Spigelman A
- Stefansdottir V
- Strom S
- Suri M
- Susman R
- Taylor A
- Taylor L
- Teixeira MR
- Teo S-H
- Tricker K
- Van Asperen CJ
- Van Os T
- Van Zelst-Stams WA
- Vasen H
- Verhaegh G
- Vertosick E
- Vickers A
- Walker L
- Wokolorczyk D
- Zgajnar J
- Publication venue
- Nature Publishing Group
- Publication date
- Field of study
Targeting RNA to treat neuromuscular disease
- Author
- A Aartsma-Rus
- A Aartsma-Rus
- A Aartsma-Rus
- A Aartsma-Rus
- A Ahmad
- A Amantana
- A Amantana
- A Crisp
- A Dellavalle
- A Dickson
- A Emery
- A Fayssoil
- A Malerba
- A Malerba
- AA Levin
- AH Burghes
- AH Burghes
- AJ Ward
- AT Helderman-van den Enden
- AY Manzur
- B Wu
- B Wu
- BG Galvez
- C Marwick
- C Mitrpant
- CF Bennett
- CF Valori
- CJ Mann
- CJ Mann
- CL Liquori
- D Furling
- D Townsend
- EM Welch
- EP Hoffman
- EP Hoffman
- ER Barton-Davis
- F Muntoni
- F Muntoni
- F Muntoni
- Francesco Muntoni
- G Bulfield
- G McClorey
- GD Ivanova
- GD Ivanova
- GS Wang
- GS Wang
- H Du
- H Heemskerk
- H Jiang
- H Yin
- H Yin
- H Yin
- H Yin
- H Yin
- H Yin
- H Yin
- HA Heemskerk
- HM Moulton
- HM Moulton
- I Lebedeva
- J Alter
- J Krol
- J Kurreck
- JB Opalinska
- JC van Deutekom
- JC van Deutekom
- JC van Deutekom
- JE Lee
- JE Lee
- JM Margolis
- JP Orengo
- JP Orengo
- JR Mendell
- JS Chamberlain
- JW Day
- K Bushby
- K Bushby
- K Meyer
- K Talbot
- KD Foust
- KE Davies
- KM Bushby
- KR Wagner
- L Alvarez-Erviti
- L Cartegni
- L Morandi
- L Politano
- LA Skordis
- LJ Popplewell
- LJ Popplewell
- LP Ranum
- LP Ranum
- LP Ranum
- M Kinali
- M Koshelev
- M Saengpattrachai
- MA Langlois
- MA Passini
- MA Passini
- Matthew J. A. Wood
- MB Warf
- MG Dunckley
- MH Nelson
- ML Stephenson
- MM Ghahramani Seno
- MS Mahadevan
- MT Howard
- N Jearawiriyapaisarn
- NM Goemans
- NM Kuyumcu-Martinez
- NN Singh
- P Dunant
- P Sazani
- PL Iversen
- Q Wang
- QL Lu
- QL Lu
- R Quinlivan
- RJ Osborne
- RJ Osborne
- RS Yadava
- RW Grange
- S Abes
- S Abes
- S Fletcher
- SA Mulders
- SA Mulders
- SE Berry
- SP Henry
- ST Crooke
- T Baughan
- T Yokota
- TA Cooper
- TA Cooper
- TD Baughan
- TH Coady
- TH Ho
- TH Ho
- TI Samoylova
- TM Wheeler
- TM Wheeler
- TM Wheeler
- TS Khurana
- V Malik
- X Lin
- Y Hua
- Y Hua
- Y Hua
- Y Takeshima
- Y Yuan
- Z Dominski
- Z Wang
- Z Zhang
- ZA Pramono
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Gene therapies that restore dystrophin expression for the treatment of Duchenne muscular dystrophy
- Author
- A Aartsma-Rus
- A Ehrhardt
- A Farini
- A Farini
- A Filareto
- A Goyenvalle
- A Goyenvalle
- A Goyenvalle
- A Touznik
- A Vulin
- AE Parker
- AT Helderman-van den Enden
- B Bostick
- B Bostick
- B Bostick
- B Palmieri
- B Wang
- B Wang
- B Wu
- BP Kleinstiver
- C Bertoni
- C Le Guiner
- C Long
- C Long
- C McDonald
- CA Gersbach
- CE Nelson
- CE Nelson
- Charles A. Gersbach
- CL Himeda
- CM McDonald
- CS Young
- D Kim
- DB Cox
- DG Ousterout
- DG Ousterout
- DG Ousterout
- E Gibney
- E Gussoni
- EM Welch
- EP Hoffman
- EP Hoffman
- FD Urnov
- G McClorey
- G McClorey
- G Silva
- G Zhang
- H Heemskerk
- H Li
- H Yin
- HL Li
- IM Slaymaker
- J Alter
- J Ramos
- J Watchko
- J Zou
- Jacqueline N. Robinson-Hamm
- JC Miller
- JF Crow
- JH Shin
- JJ Lee
- JK Joung
- JN Kornegay
- JP Iyombe-Engembe
- JP Tremblay
- JR Mendell
- JR Mendell
- JR Mendell
- K Hollinger
- K Jin
- KA Lapidos
- KJ McCullagh
- KM Flanigan
- KR Wagner
- L D’Orsogna
- L Naldini
- L Popplewell
- L Xu
- LT Bish
- M Pane
- M Penaud-Budloo
- M Tabebordbar
- M Yoshimura
- McDonald CM Henricson EK, Abresch RT, Florence JM, Eagle M, Gappmaier E, Glanzman AM, Group PG-DS, Spiegel R, Barth J et al
- Mendell JR Goemans N, Lowes LP, Alfano LN, Berry K, Shao J, Kaye EM, Mercuri E, Eteplirsen Study G, Telethon Foundation DMDIN
- MF Bolukbasi
- MJ Liu
- ML Maeder
- MS Falzarano
- N Goemans
- N Goemans
- N Wein
- NB Romero
- NM Goemans
- P Baxter
- P Chapdelaine
- P Gregorevic
- P Gregorevic
- P Sazani
- P Sazani
- P Sazani
- PD Hsu
- PK Law
- QL Lu
- R Darabi
- R Kole
- RO Crapo
- S Arnould
- S Cirak
- S Dittrich
- S Gonzalez-Hilarion
- S Jirka
- S Ohshima
- SB England
- SP Quenneville
- SQ Tsai
- T Athanasopoulos
- T Athanasopoulos
- T Gaj
- T Gaj
- T Grimm
- T Koo
- T Koo
- T Voit
- T Yokota
- TL van Westering
- V Ricotti
- V Sebastiano
- VJ Madigan
- VT Chu
- W Lostal
- Y Aoki
- YP Yue
- Z Wang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Somatic mosaicism and neurodevelopmental disease
- Author
- A Abyzov
- A Bailey
- A Hoischen
- A Kong
- A Poduri
- A Poduri
- A Rohlin
- A Roy
- A Zerem
- AC Laus
- AD Workman
- AG Knudson Jr.
- AJ Philp
- AJ Willsey
- Alissa M. D’Gama
- AM D’Gama
- AM D’Gama
- AM D’Gama
- AR Muotri
- AS Allen
- AS Harvey
- AT Helderman-van den Enden
- Autism and Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators.
- BJ O’Roak
- BJ O’Roak
- BJ O’Roak
- BJ O’Roak
- BM Neale
- C Depienne
- C Fu
- C Garcia-Linares
- C Gervasini
- C Gilissen
- C Pangalos
- C Patel
- C Zong
- CA Crowe
- Christopher A. Walsh
- CJ Yuskaitis
- CT Schrander-Stumpel
- D Castermans
- D Freed
- D Halliday
- D Levy
- D Perez
- D Pinto
- DA King
- DM Ruderfer
- DR Krupp
- DT Pederick
- E Gennaro
- E Parrini
- EK Bijlsma
- ET Lim
- ET Lim
- EW Hollingsworth
- F Sicca
- FA Azevedo
- FB Dean
- FW Larsen
- G Oliveira
- GA Doyle
- GD Evrony
- GD Evrony
- GL Carvill
- H JĂłnsson
- H Kakinuma
- I Blumcke
- I BlĂĽmcke
- I Iossifov
- I Iossifov
- IE Scheffer
- IM Campbell
- J Clayton-Smith
- J Gole
- J Mariani
- J Sebat
- J Vogt
- JA Erwin
- JA Veltman
- JB Hiatt
- JB Rivière
- JC Sim
- JG Gleeson
- JH Lee
- JS Lim
- JS Lim
- K Nakamura
- K Papanikolaou
- KA Heyries
- KC Kurek
- KJ Meyer
- KR Upton
- KR Veeramah
- L Kanner
- L Vadlamudi
- LA Jansen
- LE Vissers
- LG Biesecker
- M Bundo
- M GĂ©rard-Blanluet
- M Havlovicova
- M Janiszewska
- M Sakai
- MA Lodato
- MA Lodato
- MB Stosser
- MD Shirley
- ME Tyburczy
- MF Casanova
- MJ Lindhurst
- MJ McConnell
- MJ McConnell
- O Maertens
- P Castronovo
- PB Crino
- R Acuna-Hidalgo
- R Daber
- R Guerrini
- R Stoner
- RA Power
- RF Wintle
- S Baulac
- S Kingsmore
- S Rubeis De
- S Sauter
- S Steffenburg
- S Tinschert
- S Verhoef
- S Weckhuysen
- S Weckhuysen
- SJ Sanders
- SJ Sanders
- SS Dey
- SS Jamuar
- ST Baek
- T Bae
- T Lehner
- TD Cannon
- TW Yu
- V Bourdon
- VL Sheen
- W Qin
- X Cai
- X Xu
- Y Dou
- Y Hua
- Y Yang
- YB Yurov
- YB Yurov
- YB Yurov
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study