Results 121 to 130 of about 5,004,536 (256)

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

Measurement, source decomposition, and formation mechanism of differences in the development of China's health services. [PDF]

Front Public Health
Jin F, Zhang X, Zhao Y.
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

The Impact of Mobile Health (mHealth) in Maternal Health Services [Response to Letter]. [PDF]

Int J Womens Health
Kachimanga C, Ng'ambi WF, Kazinga D, Ndarama E, Amulele MA, Munyaneza F, Abejirinde IO, van den Akker T, Kulinkina AV.   +8 more
europepmc   +1 more source

Cerebello‐Prefrontal Connectivity Underlying Cognitive Dysfunction in Spinocerebellar Ataxia Type 2

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 2 (SCA2) is a hereditary cerebellar degenerative disorder, with motor and cognitive symptoms. The constellation of cognitive symptoms due to cerebellar degeneration is named cerebellar cognitive affective syndrome (CCAS), which has increasingly been recognized to profoundly impact patients' quality of life;
Ami Kumar, Ruo‐Yah Lai, Zena Fadel, Yicheng Lin, Pia Parekh, Rachel Griep, Ming‐Kai Pan, Sheng‐Han Kuo   +7 more
wiley   +1 more source

The Development of Health Services in Turkey and the Effects of the Pandemic. [PDF]

Cureus
Poyraz T.
europepmc   +1 more source

Cerebral Amyloid Angiopathy Is Associated With Higher R2 Relaxation Rate: An MRI and Pathology Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebral amyloid angiopathy (CAA) involves β‐amyloid deposition in the walls of cortical and leptomeningeal small vessels. Transverse relaxation rate (R2) is a major source of contrast in MRI. This study tested the hypothesis that CAA is associated with R2, extracted the spatial pattern of CAA‐related R2 abnormalities, and evaluated ...
Md Tahmid Yasar, Arnold M. Evia, Mahir Tazwar, Sue E. Leurgans, David A. Bennett, Julie A. Schneider, Konstantinos Arfanakis   +6 more
wiley   +1 more source

"The professionals weren't from here": provision of mental health services in the context of the Colombian armed conflict. [PDF]

Arch Public Health
Rubio-León DC, Cano-Sierra L, Reyes-Rivera MJ, Forero-García SL, García-Padilla D, Abitbol P, López-López W.   +6 more
europepmc   +1 more source

Race, health, and health services. [PDF]

American Journal of Public Health, 1993
openaire   +3 more sources

Spinal Cord Abnormalities in Early Pediatric Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Spinal cord lesions and atrophy in the cervical region are common in adult multiple sclerosis (MS) and correlate with disability. Whether similar abnormalities occur in pediatric MS patients is largely unknown. Clinical and MRI evaluations were performed in 38 pediatric MS patients and 13 healthy controls (HC).
Monica Margoni, Paola Valsasina, Paolo Preziosa, Martina Rubin, Mor Gueye, Lucia Moiola, Maria Assunta Rocca, Massimo Filippi   +7 more
wiley   +1 more source