Results 121 to 130 of about 3,254,927 (309)

Case Report: Intensive multidisciplinary motor-cognitive rehabilitation treatment in Gerstmann–Sträussler–Scheinker syndrome

Frontiers in Rehabilitation Sciences
Gerstmann–Sträussler–Scheinker syndrome (GSS) is a genetic, autosomal dominant prion brain disease that causes ataxia and slow cognitive decline. Herein, we describe a 34-year-old woman (S.C.B.) diagnosed with GSS (variant Pro102Leu).
A. De Laurenzis, C. Siri, L. Bandirali, L. Lucca, L. Covaia, F. Ferrari, C. Zaffina, M. Canesi   +7 more
doaj   +1 more source

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum.

, 2018
BACKGROUND Mitochondrial disease can present as a movement disorder. Data on this entity's epidemiology, genetics, and underlying pathophysiology, however, is scarce.
Schaller, André, Galovic, Marian, Michels, Lars, Kägi, Georg, Hidding, Ute, Jung, Hans H, Waldvogel, Daniel, Schreglmann, Sebastian R, Ganos, Christos, Bhatia, Kailash, Krasemann, Ernst, Baumann, Christian R, Riederer, Franz, Jaunmuktane, Zane   +13 more
core   +1 more source

Heterotropic regulation and negative homotropic cooperativity

FEBS Open Bio, EarlyView.
We identified a structural module common to some proteins that couple negative cooperativity with heterotropic regulation, two features that rarely coexist. These proteins are ring‐like and present an ordered asymmetry whereby noncontacting subunits are symmetric, and their tertiary structure differs from that of contacting subunits.
Veronica Morea, Francesco Angelucci, Federica Arnesano, Gianmarco Pascarella, Patrizio Di Micco, Andrea Bellelli   +5 more
wiley   +1 more source

From patient advocacy to patient‐driven research: Building active partnerships beginning at the bench to reach the bedside

FEBS Open Bio, EarlyView.
Research is strongest when conducted alongside patients, not just about them. Patient research organizations help integrate patient perspectives into research priorities, study design, and scientific meetings, leading to meaningful patient outcomes and development of relevant therapies.
Jenica H. Kakadia, Rachel Heilmann, Maximiliano Barrientos, Laura MacNeill, Ingrid Vallee, Sarah K. Schultz, Patrick O'Donoghue, Angelica A. Moresco, Victoria M. Siu, Ilka U. Heinemann   +9 more
wiley   +1 more source

Disrupted visual-to-semantic dynamics promote visual hallucinations in Parkinson’s disease

npj Parkinson's Disease
Minor hallucinations are frequent and clinically relevant in Parkinson’s disease (PD), often preceding cognitive decline and more complex psychotic symptoms.
Laura Pérez-Carasol, Saul Martinez-Horta, Andrea Horta-Barba, Helena Bejr-Kasem, Juan Marín-Lahoz, Jesús Perez-Perez, Ignacio Aracil-Bolaños, Javier Pagonabarraga, Jaime Kulisevsky   +8 more
doaj   +1 more source

Five‐Year Outcomes of Laparoscopic Sphincter‐Preserving Surgery for Rectal Cancer: A Prospective Study in Elderly Vietnamese Patients

Aging and Cancer, EarlyView.
This prospective study demonstrates that laparoscopic sphincter‐preserving surgery is feasible for elderly patients. While overall survival reaches 70% at 5 years, advanced T‐stage and the omission of neoadjuvant therapy significantly drive recurrence, highlighting the need for personalized geriatric protocols despite logistical challenges.
Huu Duc Ho, Quang Le, Ngoc Thach Tran, Van Viet Ung, Loc Vu   +4 more
wiley   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

MRgFUS subthalamotomy in Parkinson’s disease: an approach aimed at minimizing Lesion Volume

npj Parkinson's Disease
Idiopathic Parkinson’s Disease (PD) is a neurodegenerative disorder characterized by tremor, rigidity, bradykinesia, and postural instability. Magnetic Resonance-guided high-intensity focused ultrasound (MRgFUS) of the subthalamic nucleus (STN) is ...
Marina Campins-Romeu, Rebeca Conde-Sardón, Isabel Sastre-Bataller, Carlos Morata-Martínez, Mireya Losada-López, José Luís León-Guijarro, Luis Raga-Rodríguez, Julia Pérez-García, Antonio Gutiérrez-Martín, Andrés M. Lozano, Raquel Baviera-Muñoz, Irene Martínez-Torres   +11 more
doaj   +1 more source