Results 111 to 120 of about 585,191 (278)

Cerebrospinal Fluid Proenkephalin Predicts Striatal Atrophy Decades before Clinical Motor Diagnosis in Huntington's Disease

Movement Disorders, EarlyView.
Abstract Background Huntington's disease (HD) is characterized by early, selective, progressive vulnerability of striatal medium spiny neurons (MSNs). Proenkephalin (PENK), a precursor of opioid peptides abundantly expressed in MSNs, is a promising biomarker of striatal integrity, but region‐specific associations and its potential for early‐stage ...
Mena Farag, Michael J. Murphy, Nicola Z. Hobbs, Michela Leocadi, Kate Fayer, Olivia Thackeray, Johan Gobom, Marc Ciosi, Amanda Heslegrave, Henrik Zetterberg, Douglas R. Langbehn, Darren G. Monckton, Edward J. Wild, Sarah J. Tabrizi, Rachael I. Scahill   +14 more
wiley   +1 more source

Multimodal Imaging Investigation of the Dentato‐Thalamo‐Cortical Pathway in Friedreich's Ataxia

Movement Disorders, EarlyView.
Abstract Background Friedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato‐thalamo‐cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.
Yinghua Jing, Imis Dogan, Ravi Dadsena, Jennifer Faber, Jörg B. Schulz, Kathrin Reetz, Sandro Romanzetti, on behalf of the FACROSS study group, Stella A. Lischewski, Kerstin Konrad, Miguel Pishnamaz, Maximillian Praster, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Katharina Marx‐Schütt, Nikolaus Marx, Julia Möllmann, Malte Jacobsen, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +22 more
wiley   +1 more source

Nerve Ultrasound in Patients With Friedreich Ataxia

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Katharina Kneer, Jan‐Hendrik Stahl, Natalie Winter, Julia Wittlinger, Stephanie Männlin, Toghrul Gasimli, Ludger Schöls, Zofia Fleszar, Stefanie Hayer, Alexander Grimm   +9 more
wiley   +1 more source

Renovating Neural Networks With Viral‐Mediated Gene Transfer From A Tissue Contacting Matrix Mimic

Small, EarlyView.
Fmoc‐DDIKVAV self‐assembling peptidemediated delivery of AAV‐BDNF significantly enhances neuroprotection in the striatum of a mouse model compared with AAV‐BDNF injection alone. This synergistic integration of biomaterial scaffolding and gene therapy holds substantial promise for slowing the progression of neurodegenerative diseases such as Huntington ...
Shiva Soltani Dehnavi, Negar Mahmoudi, Yi Wang, Samuel Cheeseman, Rita Ferreira, Ross D. Hannan, Leszek Lisowski, Vincent S. J. Craig, Niamh Moriarty, Clare L. Parish, Richard J. Williams, David R. Nisbet   +11 more
wiley   +1 more source

Development of Microsatellite Markers for Ex Situ Management of the Harpy Eagle Using Next Generation Sequencing

Zoo Biology, EarlyView.
ABSTRACT The Harpy Eagle (Harpia harpyja), one of the largest birds of prey in the world, is threatened with extinction throughout its entire area of occurrence in the Neotropics. While conservation efforts for the wild populations are crucial, it is also important to focus on ex situ conservation actions.
Mylena Kaizer, Pedro S. Bittencourt, Érico M. Polo, Tânia M. Sanaiotti, Izeni P. Farias, Lorenzo von Fersen, Tomas Hrbek, Aureo Banhos   +7 more
wiley   +1 more source

Contracting CAG/CTG repeats using the CRISPR-Cas9 nickase [PDF]

, 2016
CAG/CTG repeat expansions cause over 13 neurological diseases that remain without a cure. Because longer tracts cause more severe phenotypes, contracting them may provide a therapeutic avenue.
Aeschbach, Lorène, Cinesi, Cinzia, Dion, Vincent, Yang, Bin   +3 more
core   +3 more sources

Characterization of bacteriophage communities and CRISPR profiles from dental plaque. [PDF]

, 2014
BackgroundDental plaque is home to a diverse and complex community of bacteria, but has generally been believed to be inhabited by relatively few viruses.
Abeles, Shira R, Boehm, Tobias K, Naidu, Mayuri, Pride, David T, Robles-Sikisaka, Refugio   +4 more
core   +2 more sources

Epilepsy in dentatorubral–pallidoluysian atrophy: A systematic review and meta‐analysis

Epilepsia, EarlyView.
Summary of key clinical and electrophysiological characteristics of DRPLA‐related epilepsy from a systematic review and meta‐analysis of 1,191 patients. DRPLA patients with epilepsy showed earlier disease onset, longer CAG repeat expansion, and a tendency toward paternal inheritance. EEG findings frequently included photoparoxysmal responses.
Toru Horinouchi, Haruka Ishibashi, Yukako Nakagami, Yoko Kobayashi Takahashi, Takato Akiba, Masaharu Miyauchi, Naohiro Yamamoto, Ryoichi Inoue, Satoshi Kodama, Takafumi Kubota, Naoto Kuroda   +10 more
wiley   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

A Patient‐Derived Organoid Biobank of Adamantinomatous Craniopharyngioma as a Platform for Drug Discovery

Advanced Science, Volume 13, Issue 7, 3 February 2026.
This study successfully establishes adamantinomatous craniopharyngioma (ACP) patient‐derived organoids (PDOs) that preserve the histopathological and genetic features of the original tumors. Through drug sensitivity assays and subsequent mechanistic analyses, the study demonstrates that Ceritinib exerts its inhibitory effects on ACP PDO growth by ...
Huarong Zhang, Chaohu Wang, Jun Fan, Zexin Chen, Haoying Yu, Yawen Bai, Tingcheng Zhang, Qianchao Zhu, Yiwen Feng, Peirong Niu, Jiaqian Chen, Liping Yang, Xueying Li, Lei Yu, Songtao Qi, Yi Liu   +15 more
wiley   +1 more source