Results 121 to 130 of about 2,921 (254)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

Annals of Neurology, EarlyView.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi, Claudia Marina Vargiu, Brian S. Appleby, Marcelo Barria, Giuseppe Mario Bentivenga, Ignazio Calì, Benedetta Carlà, Mark Cohen, Armin Giese, Jochen Herms, Aino‐Minerva Kortelainen, Anna Ladogana, Angela Mammana, Diane Ritchie, Otto Windl, Sabina Capellari, Piero Parchi   +16 more
wiley   +1 more source

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy

Annals of Neurology, EarlyView.
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul, Michael P. McDermott, Russell J. Butterfield, Bakri Elsheikh, Kate Eichinger, Nicholas E. Johnson, Doris G. Leung, Samantha LoRusso, Leann Lewis, William B. Martens, Perry B. Shieh, Leo H. Wang, Michaela Walker, Rabi Tawil, Jeffrey M. Statland, ReSolve Investigators of the FSHD‐CTRN   +15 more
wiley   +1 more source

The proprioception illusion can simulate limb movement in persons with limb difference. [PDF]

Sci Rep
Leskovar R, Kyberd PJ, Moore JM, Exell TA, Ostler C.   +4 more
europepmc   +1 more source

Association between Plasma P‐tau217 and Alzheimer's Copathology and Cognitive Decline in Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Clinically relevant Alzheimer's disease co‐pathology is common in Lewy body disorders. Plasma P‐tau217 is a sensitive biomarker for amyloid and tau pathology in Alzheimer's disease. The objective was to determine if plasma P‐tau217 associates with Alzheimer's disease co‐pathology and cognition in Lewy body disorders. Methods Participants had (
Thomas F. Tropea, Patricia Aldea Stevenson, Matthew Flitter, David Meehan, Amanda Morris, Ming Lu, Leonardo Iaccarino, Emily C. Collins, Michael E. Hodsdon, David Irwin, Meredith Spindler, Andres Deik, Nabila Dahodwala, Katheryn A.Q. Cousins, David A. Wolk, Leslie Shaw, Daniel Weintraub, Edward B. Lee, Alice Chen‐Plotkin, Mark Mintun, Andrew Siderowf   +20 more
wiley   +1 more source

Ictal postural phantom limb sensation is associated with impaired mental imagery of body parts

, 2017
Lukas Heydrich, Mariia Kaliuzhna, Sebastian Diéguez, Roger Nançoz, Olaf Blanke, Margitta Seeck   +5 more
openalex   +2 more sources

Winning the arms race: Optimizing upper extremity amputations and advancements in prosthetic technology. [PDF]

Bull Hosp Jt Dis (2013)
Neal W, Donnelly MR, Ayalon OB.
europepmc   +1 more source

Translating Biomedical Research to Medical Devices: A Practical Guide and the Arteriovenous Graft Case Study

Advanced NanoBiomed Research, EarlyView.
Despite significant advances, most academic research fails to result in medical products that benefit patients. This guide shares five key steps to help researchers close that gap: set clear goals, test thoroughly, protect ideas, build diverse teams, and partner with industry.
Cristina Oldani, Nina Bono, Alice Caldiroli, Stefania Adele Riboldi, Gabriele Candiani   +4 more
wiley   +1 more source

Phantom Limb Pain: Feeling Sensation from a Limb that is No Longer Present and What it Can Reveal About Our Brain Anatomy.

, 2021
Michele L. Lemons
openalex   +1 more source

War, amputation, and resilience: assessing health-related quality of life in Syrian prosthetic users. [PDF]

Int J Equity Health
Khadour FA, Khadour YA, Alharbi NSK.
europepmc   +1 more source