Results 241 to 250 of about 7,649,767 (328)

Deep Learning–Assisted Differentiation of Four Peripheral Neuropathies Using Corneal Confocal Microscopy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah, Ioannis N. Petropoulos, Mark Stettner, Maryam Ferdousi, Uazman Alam, Nathan Efron, Ahmed Serag, Rayaz A. Malik   +7 more
wiley   +1 more source

Familial Risk of Hashimoto's Thyroiditis in a Large Genealogical Database.

J Clin Endocrinol Metab
Bujnis M, DeSalvo K, Neklason DW, Madsen MJ, Jorde LB.   +4 more
europepmc   +1 more source

Effectiveness of CRISPR-Cas in sensitizing bacterial populations with plasmid-encoded antimicrobial resistance. [PDF]

Genetics
Kippnich J, Benz F, Uecker H, Baumdicker F.   +3 more
europepmc   +1 more source

The McCance Brain Care Score and Mortality: Evidence From a Large‐Scale Population‐Based Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives This study aimed to examine the relationship between the McCance Brain Care Score (BCS) and mortality in the general population. Methods We conducted a prospective, population‐based cohort study using data from the UK Biobank. Participants with complete data enabling calculation of BCS and full mortality information were included ...
Zhiqiang Xu, Xiaoxiao Wang, Nan Li
wiley   +1 more source

From individuals to ancestries: Towards attributing trait variation to haplotypes. [PDF]

PLoS Genet
Yang Y, Lawson DJ.
europepmc   +1 more source

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch   +11 more
wiley   +1 more source

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans. [PDF]

Hum Mol Genet
Curtis SW, Yang C, Sanchis-Juan A, Singleton K, Beaty TH, Erger F, Epstein MP, Feingold E, Krause M, Moreno Uribe LM, Netzer C, Padilla CD, Shaffer JR, Weinberg SM, Carlson JC, Velmans C, Murray JC, Dworkin S, Marazita ML, Brand H, Leslie-Clarkson EJ.   +20 more
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Characterization of a Genetic Variant in <i>BARD1</i> in Subjects Undergoing Germline Testing for Hereditary Tumors. [PDF]

Biomedicines
Marino E, Belloni E, Dal Molin M, Marabelli M, Guerrieri-Gonzaga A, Zanzottera C, Mannucci S, Calvello M, Fava F, Feroce I, Bonanni B, Bernard L, Barberis M, Pelicci PG, Bertolini F.   +14 more
europepmc   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source