Results 71 to 80 of about 4,301 (184)

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia Avaliação clínica e molecular de cinco pacientes brasileiros com ataxia de Friedreich

Arquivos de Neuro-Psiquiatria, 1999
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene.
IDA V.D. SCHWARTZ, LAURA B. JARDIM, ANA C.S. PUGA, SÉRGIO COCOZZA, SANDRA LEISTNER, LUCIANE C. LIMA   +5 more
doaj   +1 more source

Preparing Genetic Counselors for Advocacy Partnerships: A Novel Internship Model

Journal of Genetic Counseling, Volume 35, Issue 5, October 2026.
ABSTRACT Patient advocacy organizations (PAOs) and genetic counseling have expanded in tandem with the growth of precision medicine. Genetic counseling and PAOs share important goals related to advancing genomic medicine, creating novel possibilities for synergistic collaboration, especially as the sheer number of PAOs focused on genetic conditions ...
Marin Kalista, Lisa Jay Kessler, Deborah Requesens, Kathleen D. Valverde, Rebecca Mueller   +4 more
wiley   +1 more source

Resúmenes de los trabajos sobre la atrofia espinocerebelosa

Medisur, 2010
Cuba presenta la mayor prevalencia mundial de Ataxia Espinocerebelosa Tipo 2, con más de 8000 individuos en riesgo de haber heredado la enfermedad, por lo cual el desarrollo de investigaciones y proyectos de investigación para investigar y seguir las ...
Congreso Nacional de Neurolog'ia
doaj   +2 more sources

Glial cell activation precedes neurodegeneration in the cerebellar cortex of the YG8–800 murine model of Friedreich ataxia

Neurobiology of Disease
Friedreich ataxia is a hereditary neurodegenerative disorder resulting from reduced levels of the protein frataxin due to an expanded GAA repeat in the FXN gene.
Andrés Vicente-Acosta, Saúl Herranz-Martín, Maria Ruth Pazos, Jorge Galán-Cruz, Mario Amores, Frida Loria, Javier Díaz-Nido   +6 more
doaj   +1 more source

2‐Chloro‐5‐(trifluoromethyl)aniline‐Derived Schiff Base Palladium(II) Complexes: From Molecular Design to Acute Toxicity Assessment

ChemistryOpen, Volume 15, Issue 10, October 2026.
Four new Schiff bases derived from 2‐chloro‐5‐(trifluoromethyl)aniline and their corresponding palladium(II) complexes were obtained and analyzed by multiple spectroscopic techniques. Single‐crystal X‐ray diffraction elucidated the structures of all the ligands and complexes 2 and 4. Their toxicity was assessed on Triticum aestivum L.
Andreea Elena Ştefan, Cristina Elena Dinu‐Pîrvu, Sergiu Shova, Ştefania Felicia Bărbuceanu, Teodora Venera Apostol, Diana Carolina Ilieş, Mihaela Badea, Mihaela Dinu, Robert Viorel Ancuceanu, Doina Drăgănescu, Elena Pahonţu   +10 more
wiley   +1 more source

Depressive symptoms in Friedreich ataxia

International Journal of Clinical and Health Psychology, 2018
Background/Objective: Almost no attention has been paid to depression in Friedreich ataxia (FRDA), a highly disabling cerebellar degenerative disease. Our aim was to study the presence and the profile of depressive symptoms in FRDA and their relationship with demographic-disease variables and cognitive processing speed.
Nieto Barco, Antonieta, Hernández Torres, Atteneri, Pérez Flores, Javier, Montón, Fernando   +3 more
openaire   +3 more sources

Ataxia heredo-degenerativa associada a hipoacusia

Arquivos de Neuro-Psiquiatria, 1964
São estudados três irmãos, respectivamente com 16, 8 e 6 anos de idade, todos do sexo masculino, com ataxia heredo-degenerativa associada, em dois dêles, a hipoacusia. Nos antecedentes há referência a moléstia semelhante em um avô e um tio-avô.
José Antonio Levy, Ehrenfried O. Wittig
doaj   +1 more source

Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports

Pediatric Anesthesia, Volume 36, Issue 10, Page 1217-1230, October 2026.
ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
wiley   +1 more source

E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia

Cell Reports, 2017
Friedreich ataxia (FRDA) is a severe genetic neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. To date, there is no therapy to treat this condition.
Monica Benini, Silvia Fortuni, Ivano Condò, Giulia Alfedi, Florence Malisan, Nicola Toschi, Dario Serio, Damiano Sergio Massaro, Gaetano Arcuri, Roberto Testi, Alessandra Rufini   +10 more
doaj   +1 more source

Mitochondrial dynamics and repair differences in two mouse models of Friedreich's ataxia

The Journal of Physiology, Volume 604, Issue 20, Page 8360-8378, 15 October 2026.
Abstract figure legend Differential mitochondrial remodelling in Friedreich's ataxia (FA)‐associated cardiomyopathy. Schematic summary of mitochondrial alterations in two mouse models of FA exhibiting distinct cardiac phenotypes. In cardiac/skeletal muscle‐specific MCK‐Cre frataxin knockout (FXN‐cKO) mice, which develop heart failure with reduced ...
Lili Salinas, Francisco Figueroa, Claire B. Montgomery‐Bowie, Garrett P. Cox, Gino Cortopassi, Elena N. Dedkova   +5 more
wiley   +1 more source