Results 41 to 50 of about 2,268 (161)

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult‐Onset Primary Lateral Sclerosis‐Like Syndrome

Clinical Genetics, EarlyView.
A 43‐year‐old woman developed a progressive adult‐onset upper motor neuron syndrome fulfilling the clinical criteria for primary lateral sclerosis (PLS), with mild cerebellar involvement. Genetic testing identified a de novo ATP1A3 p.Arg995His variant affecting a highly conserved residue within the transmembrane M8 domain.
Pablo Hernandez‐Vitorique, Marta García de Burgos, Ana Campos Villegas, María José Gómez Heredia, Pilar Carbonell Corvillo   +4 more
wiley   +1 more source

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed Espectro clínico da ataxia cerebelar de início precoce com reflexos mantidos: uma ataxia autossômica recessiva para não ser esquecida

Arquivos de Neuro-Psiquiatria, 2013
Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper
José Luiz Pedroso, Pedro Braga-Neto, Irapuá Ferreira Ricarte, Marcus Vinicius Cristino Albuquerque, Orlando Graziani Povoas Barsottini   +4 more
doaj  

Directional information flow in human frataxin defines allosteric pathways connecting the hydrophobic core to the iron‐binding ridge

The FEBS Journal, EarlyView.
Human frataxin deficiency causes Friedreich's ataxia, yet how iron‐binding events are communicated across the protein is unclear. Using transfer entropy analysis of molecular dynamics simulations, we identify buried hydrophobic core leucines (LEU136, LEU140) as the source of directional signaling toward the iron‐binding acidic ridge.
Kevser Kübra Kırboğa, Ecir Uğur Küçüksille   +1 more
wiley   +1 more source

Co‐design and preliminary evaluation of a quality measure for informational resources for people with disability

Journal of Neuropsychology, EarlyView.
Abstract Access to clear, accurate and accessible information is essential for people with disability to exercise choice and control, as outlined in the UN Convention on the Rights of Persons with Disabilities. However, few tools exist to evaluate the quality of informational resources from the perspective of people with disability. This study aimed to
Megan Topping, Stacey Oliver, Kate D'Cruz, Jacinta Douglas   +3 more
wiley   +1 more source

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

The Journal of Physiology, EarlyView.
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

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

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

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

Ataxia hereditária progressiva: caso de ataxia de friedreich em irmãos acompanhados na reabilitação pediátrica

Acta Fisiátrica
A Ataxia de Friedreich (AF) é uma doença genética rara, neurodegenerativa, de difícil diagnóstico e sem tratamento específico. Trata-se de uma ataxia espinocerebelar hereditária autossômica recessiva, que afeta múltiplos sistemas, como sistema nervoso central e periférico, sistema musculoesquelético, endócrino e cardiovascular.
Marcos Matheus da Silva Fonseca, Caio Henrique Gasparotto Nogueira, Samuel Fen I Chen, Amanda Rie Tachibana, Eduardo Hideyuki Akamine   +4 more
openaire   +1 more source

Fisiopatología de la ataxia de Friedreich: Transporte y degeneración axonal.

, 2017
Friedreich ataxia (FRDA) is a recessive human disease of central and peripheral nervous system that affects children and young adults. FRDA is a peripheral neuropathy characterized by a initial degeneration of the large neurons of the dorsal root ganglia (DRG) or proprioceptive neurons.
openaire   +2 more sources