Results 61 to 70 of about 26,354 (249)

Neuroimaging Biomarkers for Friedreich Ataxia: A Cross‐Sectional Analysis of the TRACK‐FA Study

Annals of Neurology, EarlyView.
Objective We aimed to quantify differences in the brain and spinal cord between Friedreich ataxia and controls, stratified by age and disease stage, including for the first time in young children. Methods TRACK‐FA is the largest prospective, longitudinal, multi‐modal neuroimaging study in Friedreich ataxia to date.
Nellie Georgiou‐Karistianis, Louise A. Corben, Eric F. Lock, Helena Bujalka, Isaac Adanyeguh, Manuela Corti, Dinesh K. Deelchand, Martin B. Delatycki, Imis Dogan, Jennifer Farmer, Marcondes C. França Jr., Anthony S. Gabay, William Gaetz, Ian H. Harding, James Joers, Michelle A. Lax, Jiakun Li, David R. Lynch, Thomas H. Mareci, Alberto R. M. Martinez, Massimo Pandolfo, Marina Papoutsi, Richard G. Parker, Kathrin Reetz, Thiago J.R. Rezende, Timothy P. Roberts, Sandro Romanzetti, David A. Rudko, Susmita Saha, Jörg B. Schulz, Sub H. Subramony, Veena G. Supramaniam, Christophe Lenglet, Pierre‐Gilles Henry   +33 more
wiley   +1 more source

A Ligand That Targets CUG Trinucleotide Repeats [PDF]

Chemistry – A European Journal, 2016
AbstractThe development of small molecules that can recognize specific RNA secondary and tertiary structures is currently an important research topic for developing tools to modulate gene expression and therapeutic drugs. Expanded CUG trinucleotide repeats, known as toxic RNA, capture the splicing factor MBNL1 and are causative of neurological disorder
Li-Ping Bai, Jinxing Li, Kazuhiko Nakatani, Jun Matsumoto, Asako Murata, Chikara Dohno   +5 more
openaire   +2 more sources

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials

Annals of Neurology, EarlyView.
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl, Jun Yi Wang, Glenda Espinal, Ellery Santos, Flora Tassone, Randi J. Hagerman, Susan M. Rivera   +6 more
wiley   +1 more source

Crosstalk between MSH2–MSH3 and polβ promotes trinucleotide repeat expansion during base excision repair

Nature Communications, 2016
The expansion of trinucleotide repeats can have detrimental effects and give rise to a range of human diseases. Here the authors report that the mismatch repair and the base excision repair machinery can operate together to promote expansion during ...
Yanhao Lai, Helen Budworth, Jill M. Beaver, Nelson L. S. Chan, Zunzhen Zhang, Cynthia T. McMurray, Yuan Liu   +6 more
doaj   +1 more source

CAG repeats polymorphism of androgen receptor gene, Kennedy’s disease and male infertility

Андрология и генитальная хирургия, 2019
Genetic factors are a common cause of severe pathozoospermia and male infertility. An increase in the length of trinucleotide repeats causes a number of progressive neurodegenerative diseases, including spinal bulbar muscular atrophy — Kennedy syndrome ...
L. P. Melikyan, V. B. Chernykh
doaj   +1 more source

Simple Mathematical Model Of Pathologic Microsatellite Expansions: When Self-Reparation Does Not Work

, 2007
We propose a simple model of pathologic microsatellite expansion, and describe an inherent self-repairing mechanism working against expansion. We prove that if the probabilities of elementary expansions and contractions are equal, microsatellite ...
Amos, Angers, Barton, Bell, Boris Veytsman, Brinkmann, Brock, Brunner, Calabrese, Calabrese, Cleary, de Gennes, Di Rienzo, Ellegren, Ellegren, FitzSimmons, Garza, Goldstein, Gomes-Pereira, Harper, Harr, Huang, Kayser, Kruglyak, Kruglyak, Lai, Lai, Lai, Leila Akhmadeyeva, Libby, Makova, Mirkin, Monckton, Nielsen, Painter, Pearson, Pearson, Piñeiro, Primmer, Primmer, Schlötterer, Shinde, Shriver, Sibly, Sibly, Tachida, Whittaker, Xu, Yang   +48 more
core   +1 more source

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues [PDF]

, 2007
Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin protein.
C. Sandi, D. Trabzuni, D. Varshney, M. Pook, O. Ismail, R. M. Pinto, S. Al-Mahdawi, S. Lymperi   +7 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Microsatellite Stability in STR Analysis Aspergillus fumigatus Depends on Number of Repeat Units

Frontiers in Cellular and Infection Microbiology, 2019
More than a decade ago a short tandem repeat-based typing method was developed for the fungus Aspergillus fumigatus. This STRAf assay is based on the analysis of nine short tandem repeat markers.
Theun de Groot, Jacques F. Meis, Jacques F. Meis, Jacques F. Meis   +3 more
doaj   +1 more source

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Adrian Danek, Alexis Brice, Andrew SE, Bauer I, Bauer P, Bayreuther C, Benedikt Bader, Cellini E, Costa MC, Cécile Cazeneuve, Dobson-Stone C, Guilherme Riccioppo Rodrigues, Hirose G, Holmes SE, IBGE, Iscia Lopes-Cendes, Keckarević M, Krause A, Kremer B, Margolis RL, Martins S, McNeill A, Odile Russaouen, Rodrigues GR, Rodrigues GR, Rodriguez-Revenga L, Rosenblatt A, Ruth H. Walker, Santos C, Schmitz-Hübsch T, Stevanin G, Sułek-Piatkowska A, Teive HAG, Vitor Tumas, Vuillaume I, Wardle M, Warner JP, Wild EJ, Wilson Marques Jr.   +38 more
core   +3 more sources