Results 121 to 130 of about 6,668 (188)

A new c.681dup RUNX1 variant in familial leukemia. [PDF]

Fam Cancer
Crocioni M, Nardelli C, Lema Fernandez AG, Bardelli V, Pierini V, Matteucci C, Beggiato E, Olivi M, Vigliani V, Pelle A, Lanzarone G, Mecucci C.   +11 more
europepmc   +1 more source

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

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing. [PDF]

Brain
Erdmann H, Schaub A, Lucas MC, Scholz V, Benet-Pagès A, Becker K, Dineiger C, Mayer V, van Buren I, Breithausen E, Akbari K, Cordts I, Sauer M, Schneider C, Krakowsky R, Schnabel F, Dunker K, Fabritius L, Gerb J, Grabova D, Möhwald K, Näher M, Steinmetz K, Thiessen F, Jäck A, Schneider-Gold C, Zittel S, Petersen C, Schreyer I, Mämecke L, Wilfling S, Wunderlich G, Brenner D, Hellenbroich Y, Muhle K, Huchtemann T, Claus I, Klopstock T, Strupp M, Levin J, Höglinger GU, Huppert D, Becker-Bense S, Filippopulos F, Kilpert F, Leitão E, Kaya S, Depienne C, Schöberl F, Neuhann T, Holinski-Feder E, Zwergal A, Abicht A.   +52 more
europepmc   +1 more source

Polyphenol-Enriched Fraction from Chestnut Shells as a Source of Bioactive Compounds for Friedreich Ataxia. [PDF]

Molecules
Squillaci G, Cotticelli GM, Carbone V, Westfall AO, Wilson RB, Morana A.   +5 more
europepmc   +1 more source

Early experience on omaveloxolone in adult patients with Friedreich's ataxia: a real-world observational study. [PDF]

J Neurol
Lima SM, Caltagirone M, Messina C, Quartetti U, Rini N, D'Amico F, Brighina F, Di Stefano V.   +7 more
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

Targeting rare splicing defects: Antisense oligonucleotides offer a therapeutic strategy in FRDA. [PDF]

Mol Ther Nucleic Acids
Kerkhof LMC, Buijsen RAM.
europepmc   +1 more source

Zygomatic Screws for Severe Open Bite Closure in a Young Friedreich's Ataxia Patient: A Case Report. [PDF]

Case Rep Dent
Assali A, Zaoui F, Bahoum A.
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

Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review. [PDF]

Int J Mol Sci
Baris S, Dogan M, Terali K, Gezdirici A, Eroz R, Yucel PP, Kilic H, Yavas C, Yildirim G, Baris I.   +9 more
europepmc   +1 more source