Results 61 to 70 of about 3,165 (187)

Structural Brain and Spinal Cord Signature of Spinocerebellar Ataxia 27B: A Multisite MRI‐Based Study

Movement Disorders, EarlyView.
Abstract Background SCA27B is a recently described ataxia, the precise anatomical basis of which remains unclear. Objective The goal was to characterize the structural brain and spinal cord magnetic resonance imaging (MRI) signature of spinocerebellar ataxia 27B (SCA27B) using multimodal quantitative imaging.
Nadson Bruno Serra Santos, Camila Caroso Lobo, Thiago Junqueira Ribeiro Rezende, Alberto Rolim Muro Martinez, Luiza A. Corazza, Luiz Eduardo Novis, Orlando Graziani Povoas Barsottini, José Luiz Pedroso, Pedro José Tomaselli, Wilson Marques Jr, Antônio Carlos dos Santos, David Pellerin, Bernard Brais, Roberta La Piana, Jemimah Harding, Penny Snell, Paul J. Lockhart, David Szmulewicz, Ian H. Harding, Marcondes Cavalcante França Jr   +19 more
wiley   +1 more source

Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome

Brain Sciences, 2023
(1) Background: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by late-onset cerebellar ataxia, bilateral vestibulopathy, and sensory neuronopathy mostly due to biallelic RFC1 expansion.
Giulia Di Rauso, Andrea Castellucci, Francesco Cavallieri, Andrea Tozzi, Valentina Fioravanti, Edoardo Monfrini, Annalisa Gessani, Jessica Rossi, Isabella Campanini, Andrea Merlo, Dario Ronchi, Manuela Napoli, Rosario Pascarella, Sara Grisanti, Giuseppe Ferrulli, Rossella Sabadini, Alessio Di Fonzo, Angelo Ghidini, Franco Valzania   +18 more
doaj   +1 more source

Optimizing Genetic Analyses for Movement Disorders: A Unified Panel Approach and Targeted Reanalysis of 4,046 Clinical Exomes

Movement Disorders, EarlyView.
Abstract Background Molecular testing for genetic movement disorders (MDs) increasingly relies on exome‐ or genome‐based virtual gene panels. In the absence of consensus guidelines, MD panel design remains heterogeneous across laboratories, with international variation in panel configuration and gene content.
Teodora Barbarii, Sanne P. Smeekens, Maartje Pennings, Galuh Astuti, Lisenka E.L.M. Vissers, Helger G. Yntema, Christian Gilissen, Bart van de Warrenburg, Erik‐Jan Kamsteeg   +8 more
wiley   +1 more source

Can CANVAS due to RFC1 biallelic expansions present with pure ataxia? [PDF]

, 2023
BACKGROUND: Biallelic expansion of AAGGG in the replication factor complex subunit 1 (RFC1) was identified as a major cause of cerebellar ataxia, neuropathy (sensory ganglionopathy, or SG) and vestibular areflexia syndrome (CANVAS).
Zis, Panayiotis, Hoggard, Nigel, Shanmugarajah, Priya, Currò, Riccardo, Beauchamp, Nick, Hadjivassiliou, Marios, Grunewald, Richard A, Cortese, Andrea, Dominik, Natalia   +8 more
core   +1 more source

Influence of chemotherapeutic drug-related gene polymorphisms on toxicity and survival of early breast cancer patients receiving adjuvant chemotherapy

BMC Cancer, 2017
Background We investigated whether GSTT1 (“null” allele), GSTM1 (“null”allele), GSTP1 (A313G), RFC1 (G80A), MTHFR (C677T), TS (2R/3R) polymorphisms were associated with toxicity and survival in patients with early breast cancer (EBC) treated with ...
Vienna Ludovini, Cinzia Antognelli, Antonio Rulli, Jennifer Foglietta, Lorenza Pistola, Rulli Eliana, Irene Floriani, Giuseppe Nocentini, Francesca Romana Tofanetti, Simonetta Piattoni, Elisa Minenza, Vincenzo Nicola Talesa, Angelo Sidoni, Maurizio Tonato, Lucio Crinò, Stefania Gori   +15 more
doaj   +1 more source

Clinical predictors of response to methotrexate in patients with rheumatoid arthritis: A systematic review

Rheumatology &Autoimmunity, EarlyView.
This review integrates clinical, immunological, genetic, and multi‐omic evidence, highlighting dynamic inflammatory and adenosine‐pathway biomarkers and reinforcing treat‐to‐target principles as the most actionable framework for personalized methotrexate therapy.
Joana Ramos Rodrigues, Helena Margarida de Miranda Lemos Romão Donato, Soraia Raquel Loureiro Azevedo, Luís Miguel da Silva Pires, Luís Pedro Bolotinha de Sousa Inês, Manuel Augusto Nunes Vicente Passos Morgado, Ana Filipa de Sousa Pestana Mourão   +6 more
wiley   +1 more source

Meiotic recombination rate in rfc1-2 and a revised model for RFC1 in meiotic recombination.

, 2012
A. Estimation of the recombination rate in wild type and rfc1-2. Curves in graphs indicate the distribution of meiotic recombination frequency on Arabidopsis chromosome 2 and 3 [38].
Zhihao Cheng (121493), Yingxiang Wang (121491), Jiyue Huang (121495), Gregory P. Copenhaver (121503), Yue Hong (121499), Hong Ma (48973), Qian Shi (28174), Zhizhong Gong (121507)   +7 more
core   +1 more source

Allgemeine und funktionelle Untersuchungen zur großen Untereinheit des humanen Replikationsfaktors C (RFC1), sowie initiale Untersuchungen zur Regulation der Expression von RFC1 durch das BCR-ABLp210-Onkogen

, 2011
In der vorliegenden Arbeit wurden allgemeine und funktionelle Untersuchungen zur großen Untereinheit des humanen Replikationsfaktors C (RFC1) durchgeführt.
Breitenbücher, Frank
core   +2 more sources

Maternal nutrition as a key determinant of placental and developing blood–brain barrier xenobiotic protective functions

The Journal of Physiology, EarlyView.
Abstract figure legend Suboptimal maternal nutrition alters placental and developing blood–brain barrier (BBB) protective function and is associated with increased fetal brain vulnerability. In the placenta, nutritional adversity may reduce the exchange surface area and promote meta‐inflammation, compromising barrier efficiency in a model‐ and context ...
Kristin L. Connor, Nycolle I. S. Souza, Bruno G. Anjos, Stephen G. Matthews, Enrrico Bloise   +4 more
wiley   +1 more source

Generation and heterozygous repair of human iPSC lines from three individuals with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) carrying biallelic AAGGG expansions in RFC1

Stem Cell Research, 2023
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a progressive neurodegenerative disorder predominantly caused by biallelic AAGGG expansions in the second intron of the RFC1 gene. Here, we used a simultaneous reprogramming and
Kayli C. Davies, Kiymet Bozaoglu, Paul J. Lockhart   +2 more
doaj   +1 more source