Results 111 to 115 of about 118 (115)

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

Multiecho Fat‐Water Spiral MR Elastography With Distributed Encoding for Simultaneously Imaging Brain and Skull Displacement

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To introduce a novel multiecho, multishot spiral MR elastography (MRE) sequence to image brain and skull displacement simultaneously using a joint fat‐water image reconstruction and distributed motion encoding. Methods Multiple echo times were implemented into a high‐resolution multishot spiral MRE sequence to capture water‐based brain
Alexa M. Diano, Alex M. Cerjanic, Olivia M. Bailey, Mary K. Kramer, Joy Mojumder, Ruth J. Okamoto, Philip V. Bayly, Dzung L. Pham, Curtis L. Johnson   +8 more
wiley   +1 more source

Optimizing Research Operations and Resource Utilization in ALS Care: Insights From the Tofersen Antisense Oligonucleotide Expanded Access Protocol

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Tofersen is a gene‐targeted therapy for individuals with superoxide dismutase 1 (SOD1) (+) amyotrophic lateral sclerosis (ALS). Prior to U.S. Food and Drug Administration (FDA) approval, tofersen was made available through expanded access protocol.
Alison Wheeler, Kush Mehta, Danica Sanders, Cathy Chin, Hannah Zivalic, Judith Carey, Alexandra McCaffrey, Pravin Pant, Carl Lewenhaupt, Sarah Luppino, Gabriel Jacobs, Shea Golden, Ryan Gifford, Erica Scirocco, Mackenzie Keegan, Munaf Hatem, Taravat Yazdanian, Sanem P. Uysal, Natalie Susco, Shauna Schwartzman, Karen Branch, Kathryn E. Hall, Joanna Barnas, Jenny Lam, Jennifer Hagar, Carol Ann Hannan, Sabrina Paganoni, James D. Berry, Mark Garret, Jennifer Scalia, Suma Babu   +30 more
wiley   +1 more source

Information Design for Early‐Stage Dose‐Finding Trials

Naval Research Logistics (NRL), EarlyView.
ABSTRACT To enhance enrollment rates in early‐stage dose‐finding clinical trials, we propose an information design approach, where the clinical investigator (CI) commits to an information releasing mechanism (IRM) based on the treatment's uncertain efficacy and toxicity to encourage patients to participate in the trial.
Amin Khademi, Ningyuan Chen
wiley   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source