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
- 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
Otoneurological findings prevalent in hereditary ataxias
- Author
- Albano LM
- Arruda WO
- 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
The importance of central auditory evaluation in Friedreich's ataxia
- Author
- Albano LM
- Alper G
- 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
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
- Author
- A Benomar
- A Duquette
- 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
Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia
- Author
- A Aguzzi
- A Sailer
- 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
Hereditary ataxias: overview
- Author
- A Durr
- A Gupta
- 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