Results 21 to 30 of about 1,138 (183)

Soluble SORL1 in cerebrospinal fluid as a marker for functional impact of rare SORL1 variants

Alzheimer's &Dementia, Volume 22, Issue 2, February 2026.
Abstract INTRODUCTION The sortilin‐related receptor (SORL1) directs APP and Aβ trafficking within the retromer pathway. Cleavage at the cell surface releases soluble SORL1 (sSORL1) into cerebrospinal fluid (CSF). We examined whether CSF‐sSORL1 can serve as an in vivo marker of genetically impaired SORL1.
Matthijs W. J. de Waal, Sven J. van der Lee, Melanie Lunding, Lynn Boonkamp, Nolan Barrett, Giulia Monti, Anne Mette G. Jensen, Christian B. Vaegter, Jan Raska, Sona Cesnarikova, Jiri Sedmik, Calvin Trieu, Marjan M. Weiss, Rosalina van Spaendonk, Lisa Vermunt, Georgii Ozhegov, Niccolo Tesi, Marc Hulsman, Dovile Januliene, Arne Moller, Dasa Bohaciakova, Wiesje M. van der Flier, Olav M. Andersen, Charlotte E. Teunissen, Henne Holstege   +24 more
wiley   +1 more source

C9orf72 Repeat Expansion Induces Metabolic Dysfunction in Human iPSC‐Derived Microglia and Modulates Glial‐Neuronal Crosstalk

Glia, Volume 74, Issue 1, January 2026.
C9orf72 microglia display heightened glycolysis and oxidative stress, driving astrocytic reprogramming that impacts motor neurons. iPSC tricultures uncover key glial–neuronal interactions in C9orf72 pathology. ABSTRACT The C9orf72 hexanucleotide repeat expansion mutation is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and ...
Marika Mearelli, Insa Hirschberg, Christin Weissleder, Carmela Giachino, María José Pérez, Malvina Dubroux, Francesca Provenzano, Mafalda Rizzuti, Linda Ottoboni, Udit Sheth, Tania F. Gendron, Stefania Corti, Michela Deleidi   +12 more
wiley   +1 more source

Prikaz primera prvega uspešnega genskega zdravljenja slovenskega bolnika z mukopolisaharidozo tipa I v tujini

Zdravniški Vestnik, 2022
Mukopolisaharidoze so skupina lizosomskih bolezni kopičenja. Njihova skupna značilnost je pomanjkanje delovanja encimov, ki razgrajujejo glikozaminoglikane, polisaharide, ki se povezujejo s proteoglikani in tvorijo zunajcelični matriks.
Tadej Jalšovec, dr. med., Benjamin Lah, dr. med., Maria Ester Bernardo, dr. med., Ana Drole Torkar, dr. med., Jana Kodrič, univ. dipl. psih., Mojca Žerjav Tanšek, dr. med., Simona Lucija Avčin, dr. med., Alessandro Aiuti, dr. med., Tadej Battelino, dr. med., Urh Grošelj, dr. med.   +9 more
doaj   +1 more source

Cognitive profiles at presentation and subsequent cognitive decline and quality of life in Parkinson's disease

Alzheimer's &Dementia, Volume 21, Issue 12, December 2025.
Abstract INTRODUCTION Currently, our ability to predict cognitive decline in Parkinson's disease is limited. METHODS In 234 dementia‐free PD patients, cognitive profiles at baseline were determined using cluster analysis and longitudinal associations with global cognitive z‐score, health‐related quality of life (HR‐QoL), caregiver burden, and risk of ...
Saira S. Mirza, Sarah Duff‐Canning, Mark Mapstone, Susan Fox, Sandra E. Black, Malcolm A. Binns, David P. Breen, Keera N. Fishman, David A. Grimes, Anthony E. Lang, Brian Levine, Paula M. McLaughlin, Angela K. Troyer, Mario Masellis, Connie Marras   +14 more
wiley   +1 more source

EVALUATION OF CONTINUOUS THERMODILUTION METHOD FOR CARDIAC OUTPUT MEASUREMENT

Zdravniški Vestnik, 2001
Background. Continuous monitoring of haemodynamic variables is often necessary for detection of rapid changes in critically ill patients. In our patients recently introduced continuous thermodilution technique (CTD) for cardiac output measurement was ...
Roman Parežnik, Gorazd Voga, Matej Podbregar, Rafael Skale, Bojan Krivec, Ivan Žuran   +5 more
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Locus coeruleus‐entorhinal cortex tract integrity is linked to plasma tau and glial fibrillary acidic protein

Alzheimer's &Dementia, Volume 21, Issue 12, December 2025.
Abstract INTRODUCTION Pretangle tau inclusions from the locus coeruleus (LC) are hypothesized to propagate to the entorhinal cortex (EC) via neuron‐to‐neuron transmission along its projections. The lower integrity of the LC‐EC pathway accompanying Alzheimer's disease (AD) pathology is supported by post mortem studies, but in vivo evidence remains ...
Yuliya Patsyuk, Maxime Van Egroo, Elise Beckers, Elouise A. Koops, Nicholas J. Ashton, Shorena Janelidze, Kaj Blennow, Oskar Hansson, Henrik Zetterberg, Benedikt A. Poser, Heidi I. L. Jacobs   +10 more
wiley   +1 more source

THE ROLE OF PROCALCITONIN IN BACTERIAL INFECTION RECOGNITION

Zdravniški Vestnik, 2001
Background. Early recognition of bacterial infection and antibiotic treatment are very important in critically ill patients. Procalcitonin (PCT) is a marker of bacterial infections accompanied by systemic inflammatory response.
Lucija Gabršek, Gorazd Voga, Bojan Krivec, Rafael Skale, Roman Parežnik, Matej Podbregar   +5 more
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Detection of TDP‐43 seeds in CSF of presymptomatic and symptomatic genetic FTD/ALS

Alzheimer's &Dementia, Volume 21, Issue 12, December 2025.
Abstract INTRODUCTION Seed amplification assays (SAAs) have shown promising results in detecting misfolded transactive response (TAR) DNA‐binding protein 43 (TDP‐43) in cerebrospinal fluid (CSF) of genetic frontotemporal dementia (FTD). To date, the use of SAA has yet to be evaluated in presymptomatic individuals.
Ilaria Linda Dellarole, Vittoria Aprea, Marcella Catania, Claudia Battipaglia, Aurora Romeo, Cristina Villa, Anna Burato, Luigi Celauro, Eleonora Dalla Bella, Nilo Riva, Erika Salvi, Giacomina Rossi, Giuseppe Di Fede, Giuseppe Legname, Julie F H De Houwer, Antonella Alberici, Barbara Borroni, Harro Seelaar, John C van Swieten, Fabio Moda, Paola Caroppo   +20 more
wiley   +1 more source

Beta Power Response After Levodopa Intake in Parkinson's Disease Patients With Chronic Sensing‐Enabled Deep Brain Stimulation

Annals of Neurology, Volume 98, Issue 6, Page 1352-1363, December 2025.
Objective In Parkinson's disease (PD), the power of beta oscillations (± 13–30 hertz [Hz]) from subthalamic nucleus (STN) local field potentials (LFPs) is associated with motor symptoms. Beta power can be used for adaptive deep brain stimulation (aDBS) algorithms based upon symptom fluctuations.
Martijn G.J. de Neeling, Bart J. Keulen, Mariëlle J. Stam, Deborah Hubers, Rob M.A. de Bie, Bernadette C.M. van Wijk, P. Rick Schuurman, Arthur W.G. Buijink, Martijn Beudel   +8 more
wiley   +1 more source

Doživljanje žensk, obolelih za rakom dojke, in načini pomoči medicinskih sester (i. del)

Obzornik zdravstvene nege, 2004
V članku so predstavljeni psihosocialni vplivi bolezni rak dojke na doživljanje obolelih žensk. V teoretičnih izhodiščih je predstavljena krizna situacija ob pojavu bolezni. Ta lahko nastopi ob sumu na rakavo obolenje in se nadaljuje v obdobjih diagnoze,
Majda Šmit
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