Results 71 to 80 of about 354,249 (306)

Charles West: a 19th century perspective on acquired childhood aphasia [PDF]

, 2005
Dr Charles West was the founder (1852) of the first paediatric hospital in the English-speaking world. In a career spanning four decades, he devoted a great part of his energies to describing the nervous diseases of infants and children.
Hellal, Paula, Lorch, Marjorie
core   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

TDP-43 loss-of-function causes neuronal loss due to defective steroid receptor-mediated gene program switching in Drosophila [PDF]

, 2013
TDP-43 proteinopathy is strongly implicated in the pathogenesis of amyotrophic lateral sclerosis and related neurodegenerative disorders. Whether TDP-43 neurotoxicity is caused by a novel toxic gain-of-function mechanism of the aggregates or by a loss of
Adachi, Yoshitsugu, Aerts, Stein, Callaerts, Patrick, Chapuis, Julien, Dermaut, Bart, Diaper, Danielle, Dourlen, Pierre, Gistelinck, Marc, Hirth, Frank, Kleinberger, Gernot, Lambert, Jean-Charles, Naval-Sánchez, Marina, Van Broeckhoven, Christine, Vanden Broeck, Lies   +13 more
core   +3 more sources

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Congenital Heart Diseases Detected by Prenatal Fetal Echocardiography and Associated Extracardiac Anomalies

Journal of Pediatric Research, 2019
Aim:The aim of this study is to determine the relationship between extracardiac abnormalities and congenital heart diseases in fetuses that were referred for fetal echocardiography due to a variety of reasons.Materials and Methods:A total of 1,158 ...
Hayrullah Alp, Mesut Küçükosmanoğlu, Barış Sever, Ceyhan Baran, Mehmet Sevgili, Ahmet Midhat Elmacı, Esma Keleş Alp   +6 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Extremely cold and hot temperatures increase the risk of ischaemic heart disease mortality: epidemiological evidence from China.

, 2012
OBJECTIVE: To examine the effects of extremely cold and hot temperatures on ischaemic heart disease (IHD) mortality in five cities (Beijing, Tianjin, Shanghai, Wuhan and Guangzhou) in China; and to examine the time relationships between cold and hot ...
Armstrong, Ben, Guo, Yuming, Jaakkola, Jouni JK, Li, Shanshan, Pan, Xiaochuan, Tong, Shilu, Zhang, Yanshen   +6 more
core   +2 more sources

Clinical syndromes associated with Coenzyme Q10 deficiency. [PDF]

, 2018
Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level.
Alc\ue1zar-Fabra, Maria, Brea-Calvo, Gloria, Trevisson, Eva   +2 more
core   +1 more source

Dimethyl Fumarate, But Not Rituximab, Reduces Serum GFAP Levels and PIRMA in Relapsing–Remitting MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) levels are believed to reflect mainly acute and chronic disease processes in multiple sclerosis (MS), respectively. In this study, we investigated whether dimethyl fumarate (DMF) and rituximab (RTX) differentially affect these biomarkers.
F. Shawket, J. Lycke, J. Salzer, F. Piehl, K. Fink, N. Lange, J. Mellergård, C. Malmeström, P. Sundström, I. Erngren, A. al‐Grety, E. Freyhult, K. Kultima, J. Burman, A. Svenningsson   +14 more
wiley   +1 more source

Approach to a child with primary immunodeficiency made simple

Indian Dermatology Online Journal, 2017
Primary immunodeficiency disorders (PIDs) are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell ...
Dhrubajyoti Sharma, Ankur K Jindal, Amit Rawat, Surjit Singh   +3 more
doaj   +1 more source