Results 181 to 190 of about 2,215,729 (248)

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

Performance of ChatGPT-4o in Determining Radiology-Pathology Concordance and Management Recommendations Following Image-Guided Breast Biopsies. [PDF]

Diagnostics (Basel)
Lee A, Curpen B, Alikhassi A.
europepmc   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Staging and markers in Parkinson's disease and Lewy body disorders: narrative review. [PDF]

Ther Adv Chronic Dis
Bougea A.
europepmc   +1 more source

The role of platelets in the blood-brain barrier during brain pathology [PDF]

Weifeng Lv, Xiaofan Jiang, Yanyu Zhang
openalex   +1 more source

Congenital Zika virus syndrome…what else? Two case reports of severe combined fetal pathologies [PDF]

, 2018
Manon Vouga, David Baud, Eugénie Jolivet, Fatiha Najioullah, Alice Monthieux, Bruno Schaub   +5 more
openalex   +1 more source

Serum Neurofilament Light Chain in Multiple Sclerosis: Superiority of Age‐ and BMI‐Corrected Z Scores/Percentiles Over Absolute Cutoff Values for Prediction of Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Prognostication of disease course and prediction of treatment response in multiple sclerosis is an unmet need. We compared the performance of serum neurofilament light chain Z scores (age‐ and BMI‐adjusted) with absolute concentrations for the prediction of response to disease‐modifying therapy.
Maximilian Einsiedler, Aleksandra Maleska Maceski, Sofia Sandgren, Johanna Oechtering, Sabine Schaedelin, Lisa Hofer, Amar Zadic, Juan Francisco Vilchez Gomez, Lester Melie‐Garcia, Alessandro Cagol, Riccardo Galbusera, Sebastian Finkener, Patrice Lalive, Marjolaine Uginet, Stefanie Müller, Caroline Pot, Amandine Mathias, Renaud Du Pasquier, Robert Hoepner, Andrew Chan, Giulio Disanto, Chiara Zecca, Marcus D’Souza, Lars G. Hemkens, Tobias Derfuss, Özgür Yaldizli, Patrick Roth, Claudio Gobbi, David Brassat, Björn Tackenberg, Henrik Zetterberg, Tjalf Ziemssen, Heinz Wiendl, Klaus Berger, Marco Hermesdorf, Fredrik Piehl, Ludwig Kappos, Cristina Granziera, Ahmed Abdelhak, David Leppert, Eline A. J. Willemse, Pascal Benkert, Jens Kuhle, Swiss Multiple Sclerosis Cohort Study (SMSC)   +43 more
wiley   +1 more source

A multi-compartment model for pathological connectomes. [PDF]

Netw Neurosci
Bosticardo S, Battocchio M, Schiavi S, Zalesky A, Granziera C, Daducci A.   +5 more
europepmc   +1 more source

Drug-induced Kidney Disease – Pathology and Current Concepts

, 2009
Alwin HL Loh, Arthur H. Cohen
openalex   +1 more source

Foetal and Neonatal Pathology [PDF]

, 1971

openalex   +1 more source