Results 91 to 100 of about 3,414,631 (292)

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Dissociating memory networks in early Alzheimer's disease and frontotemporal lobar degeneration - a combined study of hypometabolism and atrophy [PDF]

, 2013
Introduction: We aimed at dissociating the neural correlates of memory disorders in Alzheimer’s disease (AD) and frontotemporal lobar degeneration (FTLD).
Barbara Vogt, Müller, Karsten, Becker, G., Dukart, J., Frisch, Stefan, Osama Sabri, Dukart, Jürgen, Horstmann, A., Schroeter, Matthias, Vogt, B., Sabri, O., Mueller, K. ; https://orcid.org/, Matthias L Schroeter, Barthel, H., Sabri, Osama, Juergen Dukart, Villringer, Arno, Karsten Müller, Villringer, A. ; https://orcid.org/, Henryk Barthel, Vogt, Barbara, Stefan Frisch, Becker, Georg, Frisch, S. ; https://orcid.org/, Annette Horstmann, Arno Villringer, Barthel, Henryk, Schroeter, M. ; https://orcid.org/, Horstmann, Annette, Georg Becker   +29 more
core   +2 more sources

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Paramagnetic Rim Lesions and Choroid Plexus Volume at Diagnosis Are Associated With Cognitive Progression Independent of Relapse and MRI Activity in Early Relapsing–Remitting Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paramagnetic rim lesions (PRLs) and choroid plexus (CP) enlargement reflect smoldering inflammation in multiple sclerosis. Their role in cognitive progression remains unexplored. Eighty‐seven early relapsing–remitting MS patients were enrolled at diagnosis and followed longitudinally.
Stefano Ziccardi, Damiano Marastoni, Agnese Tamanti, Pietro Biasi, Valentina Visani, Annalisa Colombi, Tom A. Fuchs, Monica Sicchieri, Chiara Eccher, Francesco Guarnaccia, Milena Calderone, Valentina Camera, Francesca Benedetta Pizzini, Roberta Magliozzi, Marco Castellaro, Massimiliano Calabrese   +15 more
wiley   +1 more source

Digital Cognitive Phenotyping for Differential Diagnosis and Monitoring in Neurological Conditions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the utility, accessibility, and equivalence to supervised scales of online cognitive assessment in older individuals with cognitive impairment. Methods Patients with Alzheimer's disease (AD, n = 31), idiopathic normal pressure hydrocephalus (iNPH, n = 26), and traumatic brain injury (TBI, n = 23) completed online cognitive ...
Martina Del Giovane, Valentina Giunchiglia, Michael C. B. David, Magdalena A. Kolanko, William R. Trender, Peter J. Hellyer, Harmeena Kaur, David J. Sharp, Christopher Carswell, Paresh A. Malhotra, Adam Hampshire   +10 more
wiley   +1 more source

The Multiple Sclerosis Severity Allele rs10191329A and Cognitive Function: A UK Biobank Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The genome‐wide association study of Multiple Sclerosis severity linked the genetic variant rs10191329A to long‐term disability and implicated brain resilience as a determinant of outcome. We hypothesised that rs10191329A might influence cognition in other neurological diseases and healthy controls.
Ioanna Zimianiti, Sheena Waters, Adil Harroud, Pernilla Stridh, Ruth Dobson, Benjamin M. Jacobs   +5 more
wiley   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Response to “Avoiding Methodological Bias in Studies of Amyloid Imaging Results Disclosure”

Alzheimer’s Research & Therapy, 2019
Joshua D. Grill, Chelsea G. Cox, Kristin Harkins, Jason Karlawish   +3 more
doaj   +1 more source

Neuropathology, Neuroimaging, and Fluid Biomarkers in Alzheimer’s Disease

Diagnostics
An improved understanding of the pathobiology of Alzheimer’s disease (AD) should lead ultimately to an earlier and more accurate diagnosis of AD, providing the opportunity to intervene earlier in the disease process and to improve outcomes.
Helena Colvee-Martin, Juan Rayo Parra, Gabriel Antonio Gonzalez, Warren Barker, Ranjan Duara   +4 more
doaj   +1 more source