Results 71 to 80 of about 2,268 (161)

Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia. [PDF]

BMJ Neurol Open
Rummey C, Blair IA, Mesaros C, Rojsajjakul T, Dong Y, Wilmot G, Zesiewicz T, Mathews K, Hoyle JC, Seeberger L, Corben LA, Delatycki MB, Finkel RS, Roxburgh RH, Duquette A, Yoon G, Gomez CM, Subramony SH, Perlman S, Mccormack S, Lynch DR.   +20 more
europepmc   +1 more source

FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution. [PDF]

Hum Mol Genet
Devore MC, Lam C, Xiao E, Devore J, McCain KRC, Wiley G, Park CC, Lynch DR, Bidichandani SI.   +8 more
europepmc   +1 more source

Búsqueda y análisis de fármacos en modelos de ataxia de Friedreich

, 2009
Peer ...
openaire   +1 more source

The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil. [PDF]

Cerebellum
Aschoff CAM, Silva TO, Hasan A, Migliorini E, Donis KC, Rare Genomes Project Consortium, Pellerin D, Saraiva-Pereira ML, Leistner S, Poswar F, Giugliani R, Netto CBO, Ashton-Prolla P, Saute JAM, Jardim LB.   +14 more
europepmc   +1 more source

Visual Pathways Involvement in Friedreich's Ataxia Patients Without Macular Impairment. [PDF]

J Clin Med
Parisi V, Barbano L, Di Renzo A, Dell'Aquila C, D'Andrea M, Castelluzzo AM, Colacino G, Gioiosa V, Coppola G, Casali C, Ziccardi L.   +10 more
europepmc   +1 more source

Impaired Glur2 palmitoylation in cerebellar Purkinje cells of a Friedreich ataxia mouse model. [PDF]

Exp Neurol
Mercado-Ayón E, Coulman J, Lee JY, Lancaster E, Goga E, Asad M, Witze E, Lynch DR.   +7 more
europepmc   +1 more source

ATAXIA DE FRIEDREICH: RELATO DE CASO DE IRMÃOS COM FENÓTIPOS CLÍNICOS DISCORDANTES

, 2021
Adriana Rosa Deboni Dezuane, Ana Luíza Lemos de Freitas, Helen Fandin dos Santos, Larissa Teotônio Maria, Zumira A Carneiro, Charles M Lourenço   +5 more
openaire   +1 more source

Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives. [PDF]

Cerebellum
Iskandar A, Buchholz M, Sarwinska D, Borel S, Durr A, Atencio M, Ewenczyk C, Heinzmann A, Weber S, Hilab R, Xie F, Humphries B, Klockgether T, Grobe-Einsler M, Maas V, Feldmann K, Rouillon S, Nadke A, Davies EH, Minnerop M, Erdlenbruch F, Bischoff AT, Klopstock T, Fleszar Z, Boesch S, Indelicato E, Schulz JB, Reetz K, Michalowsky B.   +28 more
europepmc   +1 more source

Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia. [PDF]

J Neurol
Manrique L, Martínez-Dubarbie F, Pelayo-Negro AL, Benitez-Calle N, Sanchez-Pelaez MV, Cota-Gonzalez D, Loza R, Martinez-Díaz R, Irure-Ventura J, Sanchez-Quintana C, Sanchez I, Matilla-Dueñas A, Infante J.   +12 more
europepmc   +1 more source

Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients. [PDF]

EBioMedicine
Traschütz A, Hilgers RD, Erdlenbruch F, Depienne C, Wirth T, Delvallée C, Nümann A, Ashton C, Pellerin D, Indelicato E, Heindl F, Renaud M, Borsche M, Grobe-Einsler M, Faber J, Klockgether T, Schöls L, Brais B, Anheim M, Timmann D, Synofzik M.   +20 more
europepmc   +1 more source