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
6 research outputs found
Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS
Author
A Alkan
A Rossi
+30Â more
A Viola
AAKA Razek
D Xu
E Roomets
EK Embiruçu
F Groenendaal
G Oz
H Bruhn
IV Allen
JHM Schuurs-Hoeijmakers
JS Wolinsky
K Meir
KN North
M Nakayama
M Sylvain
MAAP Willemsen
MCDG Huigen
MK Fearing
MR Pierce
N Deltetto
ON Elpeleg
PA Caruso
PB Kingsley
PH Domburg van
PJ Isackson
S Confort-Gouny
S Delorme
T Kimura
T Mano
Y Miyanomae
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Otoneurological findings prevalent in hereditary ataxias
Author
Albano LM
Arruda WO
+34Â more
Bianca Simone Zeigelboim
Buttner N
Dueñas AM
Ell J
Embiruçu EK
Fahey MC
Fortuna F
Freud AA
Ganança CC
Geslaine JanaĂna Barbosa Santos
Haerer AF
Harada H
Houssay BA
HĂ©lio A. G. Teive
Jair Mendes Marques
JoĂŁo Henrique Faryniuk
Jurkiewicz AL
Luis L
Mangabeira-Albernaz PL
Maria Izabel Rodrigues Severiano
Nakamagoe K
Oppenheimer DR
Pandolfo M
Pulst SM
Rinaldi C
Schelhaas HJ
Schöls L
Teive HA
Teive HA
Vinicius Ribas Fonseca
Zeigelboim BS
Zeigelboim BS
Zeigelboim BS
Zeigelboim BS
Publication venue
'FapUNIFESP (SciELO)'
Publication date
Field of study
No full text
Crossref
The importance of central auditory evaluation in Friedreich's ataxia
Author
Albano LM
Alper G
+35Â more
Aquino AMCM
Baloh RW
Biacabe B
Bianca Simone Zeigelboim
Braga-Neto P
Carvalho RM
Davis H
Dueñas AM
Ell J
Embiruçu EK
Fogel BL
Hall J
HĂ©lio A. G. Teive
Jair Mendes Marques
Jerger J
JĂ©ssica Spricigo Malisky
Knezevic W
LĂłpez-DĂaz-de-LeĂłn E
Melo M
Michèlli Rodrigues da Rosa
Pandolfo M
Paulo Breno Liberalesso
Payne RM
Pearson CE
Pelosi L
Pereira LD
Rance G
Rance G
Santarelli R
Satya-Murti S
Schmitz-HĂĽbsch T
Spinelli M
Vinicius Ribas Fonseca
Yokoyama J
Zeng FG
Publication venue
'FapUNIFESP (SciELO)'
Publication date
Field of study
No full text
Crossref
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
Author
A Benomar
A Duquette
+73Â more
A DĂĽrr
A Komiyama
AE Harding
AE Harding
AK Anttonen
B Castellotti
BL Fogel
BP Warrenburg Van de
C Barbot
C Criscuolo
C Lagier-Tourenne
C Lagier-Tourenne
C Mariotti
C Mignot
C Tranchant
D H’mida-Ben Brahim
DH Chen
EK Embiruçu
EM Vingolo
F Gros-Louis
F Palau
F Palau
Farida Ferrat
G Euch-Fayache El
G Euch-Fayache El
H Date
HH Chun
HJ Kayden
I Ber Le
I Ber Le
J Baets
J Mollet
Jean Muller
JP Bouchard
JP Bouchard
K Ouahchi
KM Nishiguchi
L Cavalier
Lamia Ali Pacha
LG Ball
M Anheim
M Anheim
M Gerards
M Pandolfo
M Pandolfo
M Tazir
Malika Chaouch
MC Moreira
MC Moreira
Meriem Tazir
Michel Koenig
N Dupré
N Dupré
N Vasli
Nathalie Drouot
P Nicolaou
P RibaĂŻ
R Amouri
R Horvath
R Micol
S Farah
S Gabsi
S Vermeer
S Vermeer
Samira Makri
T Fiskerstrand
T Gotoda
T Klockgether
T Yokota
Tarik Hamadouche
Traki Benhassine
V Campuzano
Wahiba Hamza
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia
Author
A Aguzzi
A Sailer
+72Â more
A Sanchez-Perez
AE Harding
Beisha Tang
BL Fogel
CA Ballinger
CA Dickey
DH Margolin
EK Embiruçu
F Gros-Louis
F Palau
Fufeng Zhang
GR Abecasis
Guanghui Wang
H Adachi
H Li
Haigang Ren
Hong Jiang
HX Deng
I Al-Ramahi
J Ding
J Jiang
J Klucken
JC Engert
Jia-Da Li
Jianguo Zhang
Jifeng Guo
Jingjing Xiao
JJ Barski
JL Wang
JL Wang
JN Min
Juan Du
Jun Wang
Junling Wang
K Ouahchi
Kun Xia
Lu Shen
M Anheim
MC Moreira
MC Moreira
Meizhi Dai
Miao He
N Sahara
Nan Li
NR Jana
PJ Vig
Q Dai
Qian Pan
Qian Xu
R Dingledine
R Li
RF Nelson
S Cull-Candy
S Vermeer
S Vermeer
SB Qian
SN Rao
T Kitada
V Campuzano
Weiqian Yan
Wenjuan Guan
X Altafaj
X Ding
Xiao-Jiang Li
Y Imai
Yacen Hu
Yafang Zhou
Ying Zhou
Yuting Shi
Zheng Su
Zhengmao Hu
Zhuohua Zhang
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
Crossref
Hereditary ataxias: overview
Author
A Durr
A Gupta
+77Â more
A Melberg
AA Seyhan
AK Anttonen
AR La Spada
BE Swartz
BL Fogel
BP van de Warrenburg
BR Underwood
C Goizet
C Lamperti
C Walton
D Cassandrini
E Berry-Kravis
E Mantuano
EK Embiruçu
F Gros-Louis
F Hentati
G Metz
G Pfeffer
G Van Goethem
GS Sellick
H Doi
H Fujigasaki
H Takashima
H Watanabe
HA Teive
HL Paulson
I Di Donato
I Le Ber
I Silveira
J Finsterer
JM Bomar
JY Kim
K Nikali
KA Kerber
KM Boycott
L Schöls
L Tranebjaerg
M Abele
M Anheim
M Assoum
M D’Hooghe
M Gironi
M Horvers
M Maschke
M Tada
MA Leehey
MD Koob
ML Moseley
MM Trudeau
N Dupré
N Mrissa
O Onodera
OA Ross
P Coutinho
P Da Pozzo
P Renbaum
P Van Damme
R Matsumura
R Montero
S Kraft
S Tezenas du Montcel
S Tsuji
S Winterthun
SM Pulst
Suman Jayadev
T Asaka
T Dixon-Salazar
T Fiskerstrand
T Gasser
T Meier
T Schmitz-HĂĽbsch
Thomas D. Bird
Y Bouhlal
Y Ikeda
Z Brkanac
Z Brkanac
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref