Results 31 to 40 of about 161,555 (138)
Recent studies have focused on the role of the cerebellum in the social domain, including in Theory of Mind (ToM). ToM, or the “mentalizing” process, is the ability to attribute mental states, such as emotion, intentions and beliefs, to others to explain
Silvia Clausi +9 more
doaj +1 more source
Friedreich’s ataxia (FRDA) is an autosomal recessive disease caused by an intronic guanine-adenine-adenine (GAA) triplet expansion in the frataxin (FXN) gene, which leads to reduced expression of full-length frataxin (1–210) also known as isoform 1. Full-
Qingqing Wang +17 more
doaj +1 more source
Objectives This study aims to assess the patient-reported benefits and the costs of coordinated care and multidisciplinary care at specialist ataxia centres (SACs) in the UK compared with care delivered in standard neurological clinics.Design A patient ...
Stephen Morris +6 more
doaj +1 more source
Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia [PDF]
© The Author 2014. Published by Oxford University Press This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution,
Al-Mahdawi +57 more
core +2 more sources
IntroductionAdvances in the operational mode of the cerebellum indicate a role in sequencing and predicting non-social and social events, crucial for individuals to optimize high-order functions, such as Theory of Mind (ToM).
Libera Siciliano +13 more
doaj +1 more source
ATM in focus:a damage sensor and cancer target [PDF]
The ability of a cell to conserve and maintain its native DNA sequence is fundamental for the survival and normal functioning of the whole organism and protection from cancer development.
Khalil, Hilal S. +2 more
core +4 more sources
Targeting ATM pathway for therapeutic intervention in cancer [PDF]
The Ataxia Telangiectasia Mutated gene encodes the ATM protein, a key element in the DNA damage response (DDR) signalling pathway responsible for maintaining genomic integrity within the cell.
Chakarov, Stoyan +4 more
core +3 more sources
NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]
Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core
Sedative and antinociceptive effects of different combinations of detomidine and methadone in standing horses [PDF]
Objective To evaluate intravenous (IV) detomidine with methadone in horses to identify a combination which provides sedation and antinociception without adverse effects. Study design Randomized, placebo-controlled, blinded, crossover.
Crosignani, N +6 more
core +2 more sources
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare
Friedreich ataxia is a multi-system autosomal recessive inherited disorder primarily caused by homozygous GAA repeat expansion mutations within intron 1 of the frataxin gene. The resulting deficiency of frataxin protein leads to progressive mitochondrial
Sahar Al-Mahdawi +9 more
doaj +1 more source

