7 research outputs found
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia
- Author
- A Senatore
- Aviva Fattal-Valevski
- B Lu
- C Koroglu
- D Ren
- Fumiaki Tanaka
- Hirotomo Saitsu
- IA Adzhubei
- J Kowal
- J Payandeh
- JM Schwarz
- JX Chong
- K Aoyagi
- Kanako Kojima-Ishii
- Kenji Ihara
- KY Mok
- LA Kelley
- M Cochet-Bissuel
- M Strong
- MD Al-Sayed
- Michiko Torio
- Mitsuko Nakashima
- Naomichi Matsumoto
- Nobuhiko Okamoto
- Noriko Miyake
- PC Ng
- R Fukai
- RF Stephens
- Ryoko Fukai
- Satoko Miyatake
- Shiina Masaaki
- Veronika Chernuha
- X Zhang
- Yasunari Sakai
- Yukihiro Kitai
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textStructure of voltage-modulated sodium-selective NALCN-FAM155A channel complex
- Author
- A Ghezzi
- A Goehring
- A Punjani
- B Lozic
- B Lu
- BJ Liebeskind
- C Koroglu
- CH Lee
- D Jiang
- D Ren
- E Jurrus
- E Yeh
- EF Pettersen
- G Wisedchaisri
- H Ashkenazy
- H Funato
- H Shen
- HA Nash
- HC Chua
- I Sivaraman
- J Campbell
- J Pei
- J Wu
- JA Humphrey
- JX Chong
- K Aoyagi
- K Zhang
- L Xie
- L Zubcevic
- M Bouasse
- M Cochet-Bissuel
- M Jospin
- M Karakaya
- M Vivero
- MA Kasimova
- MD Al-Sayed
- N Li
- NC Bramswig
- OS Smart
- P Emsley
- PD Adams
- R Fukai
- RF Stephens
- SQ Zheng
- X Gong
- X Pan
- X Tao
- Y Wang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textFunctional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties
- Author
- A Angius
- A Monteil
- A Stray-Pedersen
- A Zeisel
- A. Angius
- AN Boone
- B Lozic
- B Lu
- B Lu
- B Lu
- BJ Kim
- C Koroglu
- C Kuptanon
- Danielle K. Bourque
- E Valkanas
- E Yeh
- E. Chérot
- EG Bend
- EL Reinl
- F Duhr
- H Funato
- H Hong
- HE Shamseldin
- I Sivaraman
- J Campbell
- JA Humphrey
- JM Egan
- JX Chong
- K Aoyagi
- L Xie
- LA Swayne
- M Cochet-Bissuel
- M Flourakis
- M Gal
- M Karakaya
- M Kasap
- M Vivero
- MD Al-Sayed
- MM Sedensky
- MW Pfaffl
- Nuria C. Bramswig
- O Eigenbrod
- R Fukai
- S Gao
- SY Yeh
- T Takenouchi
- Tasneem Obeid
- TN Carneiro
- TZ Lu
- Y Perez
- Y Shi
- Y Wang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textNovel and ultra-rare damaging variants in neuropeptide signaling are associated with disordered eating behaviors
- Author
- A Rimmer
- Aa Liaw
- AA Scott-Van Zeeland
- AM Dossat
- AP Pinheiro
- B Dubern
- B Lu
- B Xue
- BL Mason
- C Friry
- Carrie J. McAdams
- Claire Hannah
- CM Bulik
- D Bataille
- D Opland
- D Szklarczyk
- Dabney Hofammann
- DJ Foster
- E Bannerman
- E Egecioglu
- Ethan Bahl
- G Gu
- G Milos
- GM Leinninger
- GR Abecasis
- GV Allen
- GY Liao
- H Cui
- H Ishiguro
- H Li
- HJ Patel
- Hubert Vaudry
- Huxing Cui
- HY Zhang
- IA Mendez
- J Li
- Jacob J. Michaelson
- JH Shin
- K Wang
- KT Eddy
- L Huo
- M Ashburner
- M Cochet-Bissuel
- M Kircher
- M Ribases
- M Solmi
- M Solmi
- Michael Lutter
- MM Fichter
- NM Avena
- P Sodersten
- PS Dalvi
- R Bou Khalil
- S Naessen
- S Santis
- SA Robert
- SM Marcora
- Summer Acevedo
- T Talsania
- TA Czyzyk
- TA Czyzyk
- TA Manolio
- V Boraska
- X Cao
- Y Benjamini
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- Field of study
No full textTo hum or not to hum: Neural transcriptome signature of male courtship vocalization in a teleost fish
- Author
- Alward BA
- Arima H
- Ayachi S
- Babicki S
- Balthazart J
- Bass AH
- Bass AH
- Bass AH
- Bass AH
- Benjamini Y
- Bolger AM
- Bradbury JW
- Brantley RK
- Bray NL
- Cahill KM
- Chagnaud BP
- Chagnaud BP
- Cochet‐Bissuel M
- Cohen MJ
- Conesa A
- Costa LS
- Crespo M
- Derégnaucourt S
- Feng NY
- Feng NY
- Feng NY
- Feng NY
- Fergus DJ
- Forlano PM
- Forlano PM
- Forlano PM
- Forlano PM
- Godwin J
- Goodson JL
- Goodson JL
- Goodson JL
- Grabherr MG
- Haas BJ
- Hardin PE
- Idda ML
- Kittelberger JM
- Lee JSF
- Lee JSF
- López JM
- Martín‐Robles ÁJ
- McIver EL
- McKibben JR
- Moore HA
- Nelson FE
- Panula P
- Plaisier SB
- Pombal MA
- Remage‐Healey L
- Remage‐Healey L
- Remage‐Healey L
- Remage‐Healey L
- Ritchie ME
- Robinson MD
- Rubow TK
- Saper CB
- Schlinger BA
- Schlinger BA
- Shimmura T
- Simão FA
- Sisneros JA
- Smeets WJAJ
- Smith‐Unna R
- Soneson C
- Srivastava KH
- Tripp JA
- Tripp JA
- Tripp JA
- Vatine G
- Wang G
- Whitmore D
- Yap EL
- Zhang YS
- Publication venue
- 'Wiley'
- Publication date
- Field of study
No full textNa+ leak-current channel (NALCN) at the junction of motor and neuropsychiatric symptoms in Parkinson’s disease
- Author
- A Angius
- A Ghezzi
- A Lotan
- A Lunati
- A Lutas
- A Nagy
- A Srivastava
- A Stray-Pedersen
- AE Baum
- AL Moon
- AM Arranz
- AY Deutch
- B Degos
- B Engmann
- B Lu
- B Pfaffenseller
- BC Lear
- BC Schwab
- BJ Kim
- BJ Liebeskind
- Brainstorm Consortium Anttila V, Bulik-Sullivan B, et al.
- C Franklin
- C Koroglu
- C Paisán-Ruiz
- CJH Klemann
- CW Olanow
- D Aarsland
- D Luo
- D Ren
- D Weintraub
- DK Bourque
- DM Raizen
- DP Breen
- DS Dwyer
- E De Pablo-Fernandez
- E Kwon
- E Lasser-Katz
- E Lauretti
- E Lin
- E Yeh
- E Yemini
- EC Dunn
- EC Verbeek
- EG Bend
- EJ Kim
- EM Lasater
- F Philippart
- G Baille
- G Cooper
- G Esposito
- G Nicholson
- H Braak
- H Braak
- H Funato
- H Huang
- H Yan
- HA Nash
- HE Shamseldin
- HL Klawans
- I Litvan
- I Topalidou
- IT French
- J Campbell
- J Erriquez
- J Pagonabarraga
- J Ruiz-Martinez
- JA Goldberg
- JA Humphrey
- JC Dalrymple-Alford
- JC Sharma
- JI Nurnberger
- JJ Askenasy
- JJ Hoozemans
- JM Beaulieu
- JP Anderson
- JX Chong
- K Bonnett
- K Del Tredici
- K Karimi
- KA Aberg
- KA Jellinger
- KM Torsney
- KS Wang
- KY Mok
- L Breydo
- L Lin
- L Xie
- LV Kalia
- M Berridge
- M Bouhours
- M Cochet-Bissuel
- M Jospin
- M Kasap
- M Kasap
- M Katchen
- M Liu
- M Luciano
- M Nguyen
- M Paucar
- M Quadri
- M Schechter
- M Seven
- M Spatola
- MA Nalls
- MC Apps
- MD Al-Sayed
- MH Huang
- MJ Benskey
- N Giladi
- N Limousin
- N Luo
- N Niemann
- NJ Ray
- NP Visanji
- P Bargiotas
- P De la Riva
- P Hobson
- PA LeWitt
- PG Billcliff
- PG Morgan
- PJ Gomez Pinilla
- PR Faustino
- R Monastero
- R Piredda
- R Sandyk
- RB Postuma
- S Belarbi
- S Khateeb
- S Papapetropoulos
- S Patel
- S Phookan
- S Steinlechner
- S Ying
- SA Bloomfield
- SJ Getz
- T Adayey
- T Gasser
- T Konno
- T Mitra
- T Saito
- T Takenouchi
- T Wichmann
- T Wirth
- T Zhang
- TN Tran
- TZ Lu
- U Müller
- W Chiu
- W Ji
- Y He
- Y Perez
- Z Chen
- ZM Khaliq
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textDe Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
- Author
- Al-Sayed
- Angela E. Scheuerle
- Anita E. Beck
- Antonie D. Kline
- Arnaud Monteil
- Bamshad
- Bandyopadhyay
- Beck
- Beck
- Bonnett
- Boyle
- Brian L. Browning
- Bryan Paeper
- Catherine L. Mercer
- Cathy A. Stevens
- Chad Haldeman-Englert
- Christa Poel
- Christina Chen
- Christopher Frazar
- Cindy Shephard
- Cochet-Bissuel
- Colby T. Marvin
- Colby T. Marvin
- Colleen P. Davis
- Coste
- Crisponi
- Dagoneau
- Daniel Luksic
- Deborah A. Nickerson
- Deborah A. Nickerson
- Deborah L. Siegel
- Di Rocco
- Dieterich
- Elizabeth Marchani Blue
- Elizabeth W. McPherson
- Eric Johanson
- Evan A. Boyle
- Frederic Reinier
- Gail P. Jarvik
- Gao Wang
- Gonçalo R. Abecasis
- Goo Jun
- Gregory M. Cooper
- Guillaume Jimenez
- Gurnett
- Hiatt
- Holly K. Tabor
- Holly K. Tabor
- Humphrey
- Illum
- Jason G. Underwood
- Jay Shendure
- Jay Shendure
- Jeffrey C. Staples
- Jennifer Chin
- Jessica Pijoan
- Jessica X. Chong
- Jessica X. Chong
- John C. Carey
- Jolien S. Klein Wassink-Ruiter
- Jose R. Armenteros
- Joshua D. Smith
- Joshua D. Smith
- Jospin
- Karynne Patterson
- Kathryn M. Shively
- Kathryn M. Shively
- Kati J. Buckingham
- Kati J. Buckingham
- Kim
- Krishnan
- Krumm
- Köroğlu
- Lee
- Liebeskind
- Lu
- Lu
- Maeda
- Malgorzata J.M. Nowaczyk
- Marc Wegener
- Marcos Perez
- Marcus Annable
- Margaret J. McMillin
- Margaret J. McMillin
- Margaret N. Berry
- Maria Luisa Giovannucci Uzielli
- Marsha M. Wheeler
- Martin Kircher
- Maureen Bocian
- McMillin
- McMillin
- Meisler
- Mezghrani
- Michael J. Bamshad
- Michael J. Bamshad
- Mir
- Monica Tackett
- Monsieurs
- Naomi T. Nkinsi
- Nash
- Nicola Foulds
- Niklas Krumm
- Nishikawa
- Paige Kaplan
- Patrick O’Reilly
- Peggy D. Robertson
- Peter Anderson
- Philippe Lory
- Pierce-Shimomura
- Preti Jain
- Qian Yi
- Rainger
- Raoul C.M. Hennekam
- Regie Santos-Cortez
- Regina A. Moreno
- Ren
- Sam W. Phillips
- Schrander-Stumpel
- Sean McGee
- Senatore
- Sinke
- Stephanie A. Krauter
- Sung
- Sung
- Suzanne M. Leal
- Swayne
- Tanya M. Harrell
- Tom Kolar
- Toydemir
- Tristan Shaffer
- Vandana Shashi
- Veugelers
- Yeh
- Zongxiao He
- Zuberi
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
No full text
