Results 71 to 80 of about 7,267 (177)

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

open access: yesAnnals of Clinical and Translational Neurology, Volume 13, Issue 4, Page 714-723, April 2026.
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein   +7 more
wiley   +1 more source

Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway [PDF]

open access: yes, 2018
Iron-sulfur clusters are evolutionarily conserved biological structures which play an important role as cofactor for multiple enzymes in eukaryotic cells.
Van Coster, Rudy, Vanlander, Arnaud
core   +2 more sources

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

open access: yesAnnals of Clinical and Translational Neurology, Volume 13, Issue 4, Page 807-818, April 2026.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel   +5 more
wiley   +1 more source

The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]

open access: yes, 2013
A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core  

Protective activity of aromatic amines and imines against oxidative nerve cell death [PDF]

open access: yes, 2001
Oxidative stress is a widespread phenomenon in the pathology of neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis.
Behl, Christian   +3 more
core   +1 more source

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases

open access: yesEuropean Journal of Immunology, Volume 56, Issue 4, April 2026.
Investigation of IFN signaling in cultured skin fibroblasts from patients with genetically confirmed mitochondrial diseases of diverse origins revealed that altered IFN signaling is an inconsistent feature of these disorders. Cytosolic accumulation of mtDNA and mtRNA was variably detected and showed little correlation with ISG scores.
Manon Marchais   +11 more
wiley   +1 more source

Iron–sulfur clusters: from metals through mitochondria biogenesis to disease [PDF]

open access: yes, 2018
Iron–sulfur clusters are ubiquitous inorganic co-factors that contribute to a wide range of cell pathways including the maintenance of DNA integrity, regulation of gene expression and protein translation, energy production, and antiviral response ...
Cardenas-Rodriguez, Mauricio   +2 more
core   +1 more source

An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Zofia Fleszar   +4 more
wiley   +1 more source

Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients

open access: yesMovement Disorders, Volume 41, Issue 4, Page 1020-1027, April 2026.
Abstract Background Parkinsonism may be observed in multiple neurodegenerative diseases, including GRN‐associated frontotemporal dementia (FTD‐GRN), complicating the differential diagnosis of Parkinson's disease (PD). Objectives To investigate the presence of GRN variants in a large group of PD patients.
Christian A. Ganoza   +31 more
wiley   +1 more source

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

open access: yesData 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   +4 more
doaj   +1 more source

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