Results 121 to 130 of about 5,660 (167)

Rapid generation of human sensory neurons from iPSC for modeling of peripheral neuropathies. [PDF]

J Neurosci Methods
James ME, Chan SSP, Hu B, Farah MH.
europepmc   +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

Comparative analysis of drop mass variance for manual and automatic delivery of large-scale eye drop poultry vaccine. [PDF]

Poult Sci
Bakker M, Vraníková B, Duintjer Tebbens EJ, Šklubalová Z.   +3 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

Impact of age on neurofilament light chain in Friedreich ataxia: a 1-year longitudinal study. [PDF]

Brain Commun
Petrillo S, Mongelli A, Castaldo A, Sarro L, Azzarelli S, Ronco R, Castellotti B, Gellera C, Piemonte F, Mariotti C.   +9 more
europepmc   +1 more source

Frataxin expression rescues mitochondrial dysfunctions in FRDA cells. [PDF]

Human Molecular Genetics, 2001
Friedreich's ataxia (FRDA) is the result of mutations in the nuclear-encoded frataxin gene, which is expressed in mitochondria. Several lines of evidence have suggested that frataxin is involved in mitochondrial iron homeostasis. We have transfected the frataxin gene into lymphoblasts of FRDA compound heterozygotes (FRDA-CH) with deficient frataxin ...
Bo Lönnerdal, Cinzia Gellera, Gino A Cortopassi   +2 more
exaly   +3 more sources

Comparison of three clinical rating scales in Friedreich ataxia (FRDA)†

Movement Disorders, 2009
AbstractTo test the validity and reliability of the scale for the assessment and rating of ataxia (SARA) in Friedreich ataxia (FRDA). SARA is limited to eight items and can be performed rapidly. Ninety‐six patients with a molecular genetic diagnosis of FRDA were rated using three different clinical scales, the FRDA Rating Scale (FARS), the ...
Ludger Schöls, Jörg B. Schulz, Konstantinos Dimitriadis   +2 more
exaly   +4 more sources

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Sensitivity of FRDA Lymphoblasts to Salts of Transition Metal Ions

Antioxidants and Redox Signaling, 2000
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease resulting from decreased expression of the nuclear-encoded mitochondrial protein, frataxin. FRDA patients have characteristic iron deposits and dysfunction of mitochondrial enzymes in the heart.
Franco Taroni, Cinzia Gellera, Gino A Cortopassi   +2 more
exaly   +3 more sources

Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA [PDF]

International Journal of Cardiology, 2016
Friedreich's ataxia (FRDA), a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy, is caused by silencing of the frataxin (FXN) gene encoding the mitochondrial protein involved in iron-sulfur cluster biosynthesis.Application of our previously established FRDA human induced pluripotent stem cell (hiPSC) derived ...
Philip Wing-Lok Ho, Chung Wah Siu
exaly   +5 more sources