Results 221 to 230 of about 4,483,049 (377)

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source

Vestopal W: A Superior Embedding Medium for an Electron Microscope Study of Human Epidermis**From the Division of Dermatology (Francis W. Lynch M.D., Director) and Department of Anatomy, University of Minnesota Medical School, Minneapolis, Minnesota.Aided by research grants M-388 and B-782 from the National Institute of Mental Health and the National Institute of Neurological Diseases and Blindness, U. S. Public Health Service, and by the Graduate Medical Research Fund of the University of …

, 1960
Alvin S. Zelickson, John F. Hartmann
openalex   +1 more source

Impact of the COVID-19 pandemic on people with disabilities and implications for health services research. [PDF]

J Health Serv Res Policy, 2023
Goyal D, Hunt X, Kuper H, Shakespeare T, Banks LM.   +4 more
europepmc   +1 more source

New challenges require new types of health services research [PDF]

, 2010
De Maeseneer, Jan, Willems, Sara
core   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

The "what, why, and how?" of story completion in health services research: a scoping review. [PDF]

BMC Med Res Methodol
Pong CY, Roberts NJ, Lum E.
europepmc   +1 more source

Reproducibility of prediction models in health services research. [PDF]

BMC Res Notes, 2022
Belbasis L, Panagiotou OA.
europepmc   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Quantitative Response of the Melanocytes to Ultraviolet Light**From the Departments of Dermatology, Wayne State University College of Medicine and Detroit Receiving Hospital, Detroit, Michigan.Supported in part by research contract DA-49-007-MD-584 from the Research and Development Division, Office of the Surgeon General, Department of the Army, and in part by grants 2A-5267 and GM-08668 from the National Institutes of Health, U.S. Public Health Service.

, 1963
Antonina Miller-Milinska, Renato G. Staricco   +1 more
openalex   +1 more source