Results 1 to 10 of about 301,833 (304)

ATM deficiency results in accumulation of DNA-Topoisomerase I covalent intermediates in neural cells [PDF]

, 2013
Accumulation of peptide-linked DNA breaks contributes to neurodegeration in humans. This is typified by defects in tyrosyl DNA phosphodiesterase 1 (TDP1) and human hereditary ataxia.
Alagoz, Meryem, Chiang, Shih-Chieh, El-Khamisy, Sherif F, Sharma, Abhishek   +3 more
core   +16 more sources

Análisis de los antecedentes históricos del proceso de rehabilitación en pacientes hemipléjicos

Ciencia y Deporte, 2022
La rehabilitación del paciente hemipléjico se ha convertido en un importante problema médico – social; esta enfermedad es la tercera causa de muerte en el mundo desarrollado, así como la primera de invalidez en los adultos, por las secuelas motoras ...
Robiel Jesús Pozo Sánchez, Jaqueline Medrano Montero, Esteban Juan Pérez Hernández   +2 more
doaj   +5 more sources

Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives: a cross-sectional study [version 2; peer review: 1 approved, 2 approved with reservations]

AMRC Open Research, 2023
Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the spectrum of symptoms associated with the various types of ataxia, and their progression over ...
Julie Greenfield, Anja Lowit, Ruby Wallis, Emily Cutting, Marios Hadjivassiliou   +4 more
doaj   +1 more source

Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives: a cross-sectional study [version 1; peer review: 1 approved, 2 approved with reservations]

AMRC Open Research, 2021
Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the symptom patterns associated with the various types of ataxia, and how these diseases progress
Julie Greenfield, Anja Lowit, Ruby Wallis, Emily Cutting, Marios Hadjivassiliou   +4 more
doaj   +1 more source

Modulating mental state recognition by anodal tDCS over the cerebellum

Scientific Reports, 2022
Increasing evidence from neuroimaging and clinical studies has demonstrated cerebellar involvement in social cognition components, including the mentalizing process.
Silvia Clausi, Michela Lupo, Giulia Funghi, Alessia Mammone, Maria Leggio   +4 more
doaj   +1 more source

The attitude of patients with progressive ataxias towards clinical trials

Orphanet Journal of Rare Diseases, 2022
Background The development of new therapies may rely on the conduct of human experimentation as well as later clinical trials of therapeutic interventions.
Gilbert Thomas-Black, Andrada Dumitrascu, Hector Garcia-Moreno, Julie Vallortigara, Julie Greenfield, Barry Hunt, Susan Walther, Mackenzie Wells, David R. Lynch, Hugh Montgomery, Paola Giunti   +10 more
doaj   +1 more source

A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeats

Frontiers in Neuroscience, 2023
IntroductionFriedreich’s ataxia (FRDA) is an inherited recessive neurodegenerative disorder caused by a homozygous guanine-adenine-adenine (GAA) repeat expansion within intron 1 of the FXN gene, which encodes the essential mitochondrial protein frataxin.
Ester Kalef-Ezra, Fred Jonathan Edzeamey, Adamo Valle, Adamo Valle, Adamo Valle, Hassan Khonsari, Paula Kleine, Carlo Oggianu, Sahar Al-Mahdawi, Mark A. Pook, Sara Anjomani Virmouni   +10 more
doaj   +1 more source

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

Molecular Genetics & Genomic Medicine, 2023
Background Giant axonal neuropathy (GAN) is a progressive childhood hereditary polyneuropathy that affects both the peripheral and central nervous systems.
Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Ali Reza Tavasoli, Morteza Heidari, Masoud Ghahvechi Akbari, Ali Reza Ronagh, Mohammad Ghafouri, Nejat Mahdieh, Pouria Mohammadi, Zahra Rezaei   +9 more
doaj   +1 more source

Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey

Orphanet Journal of Rare Diseases, 2023
Background Little is known about the costs of treating ataxia and whether treatment at a specialist ataxia centre affects the cost of care. The aim of this study was to investigate whether patients who attended specialist ataxia centres in three European
Stephen Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Paola Giunti   +9 more
doaj   +1 more source

Genome-Wide Association Study and Subsequent Exclusion of ATCAY as a Candidate Gene Involved in Equine Neuroaxonal Dystrophy Using Two Animal Models. [PDF]

, 2020
Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder of unknown etiology. Clinical signs of neurological deficits develop within the first year of life in vitamin E (vitE) deficient ...
Dahlgren, Anna R, Esparza, Christina, Finno, Carrie J, Hales, Erin N, Miller, Andrew D, Peng, Sichong, Peterson, Janel M   +6 more
core   +1 more source