Results 51 to 60 of about 3,578 (140)

Multimodal Magnetic Resonance Imaging and Machine Learning Uncovers Distinct Progression Patterns in Friedreich Ataxia

Movement Disorders, EarlyView.
Abstract Background Friedreich ataxia (FRDA) is a rare neurodegenerative disorder with heterogenous clinical progression, complicating prognosis and trial design. Neuroimaging offers objective biomarkers of disease progression, yet variability in progression patterns remains poorly understood.
Susmita Saha, Nellie Georgiou‐Karistianis, Vivienne Teo, Louise A. Corben, David J. Szmulewicz, Lachlan T. Strike, Marcondes C. França Jr., Thiago J.R. Rezende, Ian H. Harding   +8 more
wiley   +1 more source

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

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

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

Chemical synthesis of lipophilic methylene blue analogues which increase mitochondrial biogenesis and frataxin levels

Data in Brief, 2018
As part of an ongoing program to develop potential therapeutic agents for the treatment of the neurodegenerative disease Friedreich׳s ataxia (FRDA), we have prepared a number of lipophilic methylene blue analogues.
Indrajit Bandyopadhyay, Sandipan Roy Chowdhury, Nishant P. Visavadiya, Sidney M. Hecht, Omar M. Khdour   +4 more
doaj   +1 more source

Analysis of Postural Control in Sitting by Pressure Mapping in Patients with Multiple Sclerosis, Spinal Cord Injury and Friedreich’s Ataxia: A Case Series Study

Sensors, 2020
The postural control assessments in patients with neurological diseases lack reliability and sensitivity to small changes in patient functionality. The appearance of pressure mapping has allowed quantitative evaluation of postural control in sitting ...
María Mercedes Reguera-García, Raquel Leirós-Rodríguez, Lorena Álvarez-Barrio, Beatriz Alonso-Cortés Fradejas   +3 more
doaj   +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

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2134-2137, October 2026.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +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