Results 181 to 190 of about 9,342,488 (306)

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Differential proteostasis imbalance and the molecular basis of distinct synucleinopathies and tauopathies. [PDF]

Philos Trans R Soc Lond B Biol Sci
Redeker V, Melki R.
europepmc   +1 more source

Associations Between Biomarkers of Alzheimer's Disease and Sleep in Cognitively Unimpaired Older Adults

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sleep disturbances have been implicated as a risk factor for developing Alzheimer's disease (AD), but evidence linking plasma AD biomarkers to sleep in cognitively unimpaired individuals remains limited. The present study examined associations between evening, morning, and overnight changes in plasma AD biomarkers and measures of ...
Cornelia Sauter, Hans Dorn, Julian Hellmann‐Regen, Ana Bueno‐Lopez, Verena van Ginneken, Heidi Danker‐Hopfe   +5 more
wiley   +1 more source

Advancing the Translational Pipeline: From In Vivo and In Vitro 2D Models to Next-Generation Cell Culture Models for Amyotrophic Lateral Sclerosis Modelling and Drug Discovery. [PDF]

Biomedicines
Carata E, Mariano S, Tenuzzo BA, Panzarini E.   +3 more
europepmc   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Voltage-gated sodium channel, Nav 1.8, regulates calcium dynamics in the dorsal root ganglion induced by cold nociceptive stimulus. [PDF]

PLoS One
Dey MR, Li B, Heddleston J, Aihara E.
europepmc   +1 more source

Parkinson Disease Subtype Stability and Eventual Convergence

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Previous research identified distinct Parkinson disease (PD) clinical subtypes of “Motor Only,” “Psychiatric & Motor,” and “Cognitive & Motor” based on comprehensive, multidomain classification. Whether these subtypes reflect distinct trajectories or progressive disease stages remains unknown.
Laura M. Rosok, Christina N. Lessov‐Schlaggar, Abdulmunaim M. Eid, Erin R. Foster, Baijayanta Maiti, Hailee Domash, Helen Hwang, Richard J. Perrin, Paul T. Kotzbauer, Joel S. Perlmutter, Meghan C. Campbell   +10 more
wiley   +1 more source

Primary cilia mediate specific neuron-glia attachments in C. elegans through the secreted protein BUG-1. [PDF]

Curr Biol
Wexler LR, Griffin B, Dutta P, Sengupta P, Kolotuev I, Ringstad N, Heiman MG.   +6 more
europepmc   +1 more source

Serostatus‐Specific Prognostic Profiles and Phenotype‐Dependent Therapeutic Windows in Autoimmune Encephalitis: A Multicenter Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background While autoimmune encephalitis (AE) outcomes vary, serostatus‐specific prognostic determinants and institutional clustering effects remain poorly characterized. We aimed to delineate the distinct prognostic architecture of AE, identifying serostatus‐specific risk factors and potential therapeutic windows.
Xiaohong Tang, Jingxian Wang, Kaixin Zhu, Zhen Zhang, Liao Wu, Wei Wang, Chang Li, Qingyun Li, Hao Li, Jinghua Chen, Zhangxu Lian, Bin Liu, Tengfei Liu, Chunmei Wen, Nuan Wang, Sen Qun, Lishun Xiao, Qingwei Lai   +17 more
wiley   +1 more source

Tau A152T risk variant drives distinct cell type transcriptional signatures in AD and PSP. [PDF]

Acta Neuropathol
Lilley MT, Ren Y, Soni D, Sanborn EC, Marks JD, Chen Y, Yan Y, DeTure M, Rawlinson B, Dickson DW, Cook CN.   +10 more
europepmc   +1 more source