Results 261 to 270 of about 390,058 (293)

Lipidomic Signature of Patients with Familial Hypercholesterolemia Carrying Pathogenic Variants Unveils a Cue of Increased Cardiovascular Risk. [PDF]

Int J Mol Sci
De Simone G, Di Taranto MD, Paris D, Ferrandino M, Andolfi M, Iodice A, Cardiero G, De Luca C, Valletta LJ, Calcaterra IL, Iannuzzo G, Di Minno MND, Fortunato G, Cutignano A.   +13 more
europepmc   +1 more source

Applying an Ethical Lens to the Treatment of People With Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The practice of neurology requires an understanding of clinical ethics for decision‐making. In multiple sclerosis (MS) care, there are a wide range of ethical considerations that may arise. These involve shared decision‐making around selection of a disease‐modifying therapy (DMT), risks and benefits of well‐studied medications in comparison to
Methma Udawatta, Farrah J. Mateen
wiley   +1 more source

Health Behaviors and Cancer Diagnosis Among Individuals with Pathogenic Variants Associated with Hereditary Breast and Ovarian Cancer or Lynch Syndrome. [PDF]

J Pers Med
Sarki M, Fink G, Aissaoui S, Brugnoletti F, Bürki N, Graffeo R, Monnerat C, Rabaglio M, Zürrer-Härdi U, Chappuis PO, Heinimann K, Katapodi MC.   +11 more
europepmc   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling. [PDF]

Am J Hum Genet
Chapman KA, Ullah F, Yahiku ZA, Khan S, Kodiparthi SV, Kellaris G, White HG, Powell AT, Correia SP, Stödberg T, Sofocleous C, Marinakis NM, Fryssira H, Tsoutsou E, Traeger-Synodinos J, Accogli A, Sciruicchio V, Salpietro V, Striano P, Muss C, Keren B, Heron D, Berger SI, Pond KW, Sirimulla S, Davis EE, Bhattacharya MRC.   +26 more
europepmc   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals. [PDF]

Genes (Basel)
Dzhumaniiazova I, Zelenova E, Daniel V, Gusakova M, Kashtanova D, Ivanov M, Blinova O, Yudin V, Matkava L, Mitrofanov S, Nekrasova A, Petriaikina E, Erokhina M, Ivashechkin A, Maralova E, Marchenko O, Maksyutina V, Makarov V, Keskinov A, Kraevoy S, Yudin S.   +20 more
europepmc   +1 more source

Effects of Biological Sex and Age on Cerebrospinal Fluid Markers—A Retrospective Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebrospinal fluid (CSF) analysis is a key diagnostic tool for neurological diseases. To date, only a few studies have investigated in larger cohorts the effect of age and biological sex on diagnostic markers extracted from CSF. Methods For this retrospective observational study, 4163 CSF findings (2012–2020) were evaluated.
Isabel‐Sophie Hafer, Simon Faissner, Ralf Gold, Aiden Haghikia   +3 more
wiley   +1 more source

Spectrum and Clinical Interpretation of <i>TTN</i> Variants in Ecuadorian Patients with Heart Disease: Insights into VUS and Likely Pathogenic Variants. [PDF]

Int J Mol Sci
Guevara-Ramírez P, Cadena-Ullauri S, Tamayo-Trujillo R, Ruiz-Pozo VA, Paz-Cruz E, Ibarra-Castillo R, Laso-Bayas JL, Zambrano AK.   +7 more
europepmc   +1 more source

Clinical features and novel pathogenic variants of patients with Behçet's disease like trisomy 8. [PDF]

Orphanet J Rare Dis
Ding X, Yang J, Han X, Shen YF, Yang K, Shangguan Y, Dong Y, Ye X.   +7 more
europepmc   +1 more source