Results 181 to 190 of about 724,827 (247)

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

P750: Cytogenetic profiles of clinically diagnosed Down syndrome (DS) cohort reported at a single centered accredited laboratory in Sri Lanka

Genetics in Medicine Open
Bandula Galhena, Nirmani Kaluarachchi, Ashani Jayawardana, D.P.H.A. Wijayasiri, N.V. Warnakulasuriya, D.B. Liyanage, L.D. Maleesha   +6 more
doaj   +1 more source

Considerations for the Adoption of Digital Algorithms and Cardiovascular Decision-Support Tools in Clinical Practice. [PDF]

Crit Pathw Cardiol
Baugh CW, Gibson CM, Giannitsis E, Morrow DA, Januzzi JL, Papendick C, Brunner-La Rocca HP, Daniels LB, Palau H, Visciola L, Than M.   +10 more
europepmc   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

Editorial: Advancements in diversity and drug resistance mechanisms in mycobacterial diseases. [PDF]

Front Microbiol
Tarashi S, Baranwal M, Khaiboullina S, Marjani M.   +3 more
europepmc   +1 more source

Association of Corticospinal Tract Asymmetry With Ambulatory Ability After Intracerebral Hemorrhage

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Ambulatory ability after intracerebral hemorrhage (ICH) is important to patients. We tested whether asymmetry between ipsi‐ and contra‐lesional corticospinal tracts (CSTs) assessed by diffusion tensor imaging (DTI) is associated with post‐ICH ambulation.
Yasmin N. Aziz, Carl D. Langefeld, Mary E. Comeau, Miranda C. Marion, Tyler P. Behymer, Lee A. Gilkerson, Padmini Sekar, Weihong Yuan, Vivek Khandwala, Brady J. Williamson, Thomas Maloney, Achala Vagal, Pierce Boyne, Kari Dunning, Matthew L. Flaherty, Steven J. Kittner, Prachi Mehndiratta, Gunjan Y. Parikh, Michael L. James, David Roh, Fernando D. Testai, Farhaan S. Vahidy, James Thornton, Ranjit Bagga, Daniel Woo, Stacie L. Demel   +25 more
wiley   +1 more source

P271: Two copies, one condition? Understanding APOE allele state in over 14,000 symptomatic patients

Genetics in Medicine Open
Zoe Powis, Khalida Liaquat, Raveen Basran, Zhenyuan Wang   +3 more
doaj   +1 more source

Biosensor Technologies for Avian Influenza Detection: A New Frontier in Rapid Diagnostics for HPAI. [PDF]

Biosensors (Basel)
Risalvato J, Sewid AH, Dalrymple DZ, Eda S, Wu JJ, Gerhold RW.   +5 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