Results 111 to 120 of about 5,571 (197)

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

Automated Deep Learning-based Segmentation of the Dentate Nucleus Using Quantitative Susceptibility Mapping MRI. [PDF]

Radiol Artif Intell
Shiraishi DH, Saha S, Adanyeguh IM, Cocozza S, Corben LA, Deistung A, Delatycki MB, Dogan I, Gaetz W, Georgiou-Karistianis N, Graf S, Grisoli M, Henry PG, Jarola GM, Joers JM, Langkammer C, Lenglet C, Li J, Lobo CC, Lock EF, Lynch DR, Mareci TH, Martinez ARM, Monti S, Nigri A, Pandolfo M, Reetz K, Roberts TP, Romanzetti S, Rudko DA, Scaravilli A, Schulz JB, Subramony SH, Timmann D, França MC, Harding IH, Rezende TJR, TRACK-FA Neuroimaging Consortium.   +37 more
europepmc   +1 more source

Delphi study to elicit expert consensus around decision-making in the treatment of Friedreich ataxia. [PDF]

Front Neurol
Kuo SH, Tian C, McKay J, England SM, Simon M, Graf M, Brewer IP, Land N, Chou JW, Lawson R.   +9 more
europepmc   +1 more source

Development and validation of the dysarthria impact scale: a patient-reported outcome for motor speech disorders. [PDF]

J Neurol
Vogel AP, Graf L, Weiß M, Chan CSJ, Hepworth G, Synofzik M.   +5 more
europepmc   +1 more source

Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review. [PDF]

Int J Mol Sci
Bernardi E, López-Lombardía Ó, Olmedo-Saura G, Pagonabarraga J, Kulisevsky J, Pérez-Pérez J.   +5 more
europepmc   +1 more source

Fenotipo celular de las neuronas sensitivas afectadas en la ataxia de Friedreich

, 2016
Peer ...
openaire   +2 more sources

Deciphering Spastic Ataxia: Clinical and Genetic Profiles. [PDF]

Neurol Genet
Damásio J, Santos M, Costa S, Moura J, Sardoeira A, Lemos C, Oliveira J, Barros J, Sequeiros J.   +8 more
europepmc   +1 more source

Estudio de la fisiopatología de la ataxia de Friedreich-dinámica del transporte axonal

, 2013
[EN] Friedreich 's Ataxia is an autosomal recessive disorder that affects children and young adults. In most cases, a homozygous guanine-adenine-adenine trinucleotide expansion causes frataxin deficiency, a mitochondrial protein encoded by the nuclear genome.
openaire   +2 more sources

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers. [PDF]

Cerebellum
Pretegiani E, Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Németh AH, Jardim LB, Coarelli G, Kuzmiak M, Milovanovic A, Traschütz A, Tarnutzer AA.   +16 more
europepmc   +1 more source

Corrigendum to "Deciphering the ferroptosis pathways in dorsal root ganglia of Friedreich ataxia models. The role of LKB1/AMPK, KEAP1, and GSK3β in the impairment of the NRF2 response" [Redox Biol. 76 (2024) 103339]. [PDF]

Redox Biol
Sanz-Alcázar A, Portillo-Carrasquer M, Delaspre F, Pazos-Gil M, Tamarit J, Ros J, Cabiscol E.   +6 more
europepmc   +1 more source