Results 51 to 60 of about 5,571 (197)

Aspectos Neuroanatômicos e Correlações Clínicas da Ataxia de Friedreich

Revista Neurociências, 2013
Objetivo. Descrever a patologia da Ataxia de Friedreich (AF), bem como correlacionar seus aspectos clínicos ao estudo das estruturas nervosas acometidas nessa doença. Método. A busca de materiais foi realizada no período de julho de 2011 a janeiro de 2013.
Dennys Castro, Luciano Duarte
openaire   +1 more source

Technologies for engineering repetitive DNA

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley   +1 more source

Miocardiopatías infiltrativas. Aporte de la ecocardiografía

Revista Colombiana de Cardiología, 2019
Resumen: Las miocardiopatías infiltrativas se caracterizan por un depósito de sustancias anormales dentro de la pared ventricular que generan rigidez y así disfunción diastólica progresiva, que típicamente precede la disfunción sistólica. Estas entidades
Claudia P. Jaimes, Laura Catalina Arcos, Nubia Esperanza Carrero, Julián Gelves, Luis Sánchez   +4 more
doaj   +1 more source

Ataxia de Friedreich, revisión y actualización de la literatura con búsqueda sistemática de casos en Latinoamérica

Revista de Neuro-Psiquiatría, 2023
La Ataxia de Friedreich (AF) es una enfermedad neurodegenerativa autosómica recesiva con compromiso multisistémico. En esta revisión, se actualizan aspectos epidemiológicos, fisiopatológicos y clínico-terapéuticos y se conduce una búsqueda sistemática de casos de AF reportados en Latinoamérica. La prevalencia de AF en poblaciones caucásicas es estimada
María Alfaro-Olivera, Adriana Calle-Nuñez, Alfonso Uribe-León, Wilfor Aguirre-Quispe, Elison Sarapura-Castro, Mario Cornejo-Olivas   +5 more
openaire   +2 more sources

Redox Regulation and Oxidative Stress in Health and Disease: Mechanisms and Therapeutic Targeting

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Reactive species serve crucial roles which are tightly regulated in both physiological as well as disease states. At physiological levels, these species are integral to redox signaling, while uncontrolled redox promotes disease pathology. This review examines the dysregulation of these processes.
Mohammad Hossein Azadi, Azadeh Niknejad, Elaheh Amini   +2 more
wiley   +1 more source

Intervengáo Terapéutica Ocupacional junto á duas jovens com Ataxia de Friedreich: um relato de caso

Ocupación Humana, 2016
A Ataxia de Friedreich é urna doenga hereditário neurodegenerativa, caracterizada pela deterioragáo das células nervosas, sendo relacionada também por baixos níveis da proteína fraxatina. As consequéncias envolvem diminuigáo progressiva da forga muscular,
Aristela De Freitas Zanona, Anne Carolline A. Santos, Ana Lucia Gomes Gongalves, Marcia Peixoto Da Silva, Renata Nascimento Dos Santos, Ricardo Passos Do Espirito Santo, Tatiana Menezes Silva Dos Santos, Maria Natália Santos Da Silva   +7 more
doaj   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Abordaje en la evaluación e intervención logopédica de pacientes con ataxia de Friedreich: revisión bibliográfica

Revista de Investigación en Logopedia
La ataxia de Friedreich (AF) es una enfermedad neurodegenerativa hereditaria autosómica recesiva con alteración cerebelosa. Cursa con dificultades motoras que repercuten en la marcha, el habla y la deglución, junto con alteraciones neurológicas ...
Silvia Moreno Escobar, Narcisa Pérez Naranjo   +1 more
doaj   +1 more source

Nomlabofusp Treatment Produces Frataxin Levels That Correlate Across Peripheral Tissues: Preclinical and Clinical Support for Surrogate Tissue Sampling

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Nomlabofusp is a recombinant, cell‐penetrating human frataxin (hFXN) fusion protein in development for the treatment of Friedreich's ataxia (FRDA). This study evaluated whether nomlabofusp‐derived hFXN concentrations covary across accessible peripheral matrices and FRDA‐relevant tissues, supporting the feasibility of surrogate tissue sampling ...
Flavia De Toni, Mohamed Hamdani, Chintan Patadia, Gopi Shankar   +3 more
wiley   +1 more source

Mitochondrial DNA damage associated with lipid peroxidation of the mitochondrial membrane induced by Fe2+-citrate

Anais da Academia Brasileira de Ciências, 2006
Iron imbalance/accumulation has been implicated in oxidative injury associated with many degenerative diseases such as hereditary hemochromatosis, beta-thalassemia, and Friedreich's ataxia.
Andréa M. Almeida, Clélia R.A. Bertoncini, Jiri Borecký, Nadja C. Souza-Pinto, Aníbal E. Vercesi   +4 more
doaj   +1 more source