CORE
🇺🇦Â
 make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Filters
4 research outputs found
Pearls & Oy-sters: Spinocerebellar ataxia type 3 presenting with cervical dystonia without ataxia
Author
COUTINHO
Hagenah
+11Â more
Jihad A. Muglan
Lang
Lima
Mandar S. Jog
MÂ Â nchau
Rosenberg
Sakai
Subramony
Suite
Suresh Menon
van Gaalen
Publication venue
'Ovid Technologies (Wolters Kluwer Health)'
Publication date
Field of study
No full text
Crossref
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up
Author
Adzhubei
Albanese
+44Â more
Amendola
Asmus
Balint
Bettencourt
Chang
Charlesworth
Chen
Chen
Delaneau
Domingo
Dy
Egmond
Fogel
Fuchs
Furukawa
Haines
Kircher
Klein
Klein
LeDoux
Lill
Marti-Masso
Meissner
Mencacci
Miltgen
Muglan
Neveling
Ng
Olgiati
Olgiati
Opladen
Ozelius
Retterer
Richards
Sawyer
Stamelou
Stoep
Sun
Trender-Gerhard
Valente
Wijemanne
Yang
Zech
Zech
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review
Author
Alessandro Filla
Barca
+67Â more
Blumkin
Bologna
Catarina Maria Quinzii
Chang
Chen
Cullen
Daniele Galatolo
Desbats
Doss
Emanuele Barca
Emmanuele
Enrico Bertini
Erro
Filippo Maria Santorelli
Freyer
Gaillard
Gallea
Ganos
Gerards
Gessica Vasco
Ginevra Zanni
Hikmat
Horvath
Jacobsen
Jennifer Friedman
Jinnah
Karczewski
Kuoppamäki
Lagier-Tourenne
Landrum
Laredj
Le Ber
Licitra
Liu
Luna-Sánchez
Malgireddy
Malicdan
Manning
Maria Lieto
Michela Di Nottia
Michio Hirano
Mignot
Mollet
Muglan
Muzaimi
MĂ©ndez-Guerrero
Quinzii
Quinzii
Reidenbach
Richard Haas
Rosalba Carrozzo
Rothkirch
Schirinzi
Schreglmann
Serena Galosi
Shakkottai
Stefely
Stefely
Stoessl
Sun
Terracciano
Tommaso Schirinzi
van de Warrenburg
van Spronsen
Vincenzo Leuzzi
Wang
Ziosi
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Author response
Author
AlarcĂłn
Argyelan
+127Â more
Balint
Bang
Batini
Beauvais
Bell
Blendy
Brashear
Brashear
Bressman
Bressman
Calderon
Caldwell
Carbon
Carbon
Carbon
Carbon
Carbon
Charlesworth
Chen
Chesselet
Clapcote
Dang
Daude
De Souza
DeAndrade
DeAndrade
Dow
Duchen
Eidelberg
Erdmann
Filip
Fremont
Fremont
Frucht
Goodchild
Goodchild
Green
Grillet
Grundmann
Grundmann
Hall
Hatten
Hommel
Hughes
Jinnah
Jinnah
Kawarai
Kim
Klein
Koch
Koh
Konakova
Latham
LeDoux
LeDoux
LeDoux
LeDoux
Lee
Lee
Liang
Liang
Liu
Lorden
Löscher
Mallucci
Mariotti
Martino
McNaught
Moseley
Muglan
Mukherjee
Muraro
MĂĽller
Naismith
Nakagaki
Nerbonne
Neuwald
Neychev
Neychev
Nygaard
NĂ©meth
Oblak
Ozelius
Ozelius
Ozelius
Page
Panov
Pappas
Paudel
Pietrobon
Pizoli
Prudente
Puglisi
Risch
Rittiner
Rossdeutsch
Rossi
Rostasy
Sethi
Sharma
Shashidharan
Shen
Siegert
Simonati
Slaughter
Stacy
Sweadner
Tanabe
Tanabe
Teixeira
Trost
Vale
Vasudevan
Walter
Wang
Warner
Weisheit
White
White
Wilson
Xiao
Yanagisawa
Yokoi
Yokoi
Yuan
Zhang
Zoons
Publication venue
'eLife Sciences Publications, Ltd'
Publication date
Field of study
No full text
Crossref