Results 211 to 220 of about 8,090,905 (352)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Evolution of Research Published in Sports and Exercise Medicine Journals: A Quantitative Analysis of Global Trends. [PDF]

Sports Med Open
Zwack CC, Haghani M, Benson AC.
europepmc   +1 more source

Women 'as subjects': documentation, methodology, interpretation and enhancement

, 2018
Il capitolo è uno dei prodotti della ricerca del progetto europeo "Women's Creativity since the Modern Movement" (MoMoWo) co-finanziato programma "Creative Europe" dell'Unione Europea.
openaire   +1 more source

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein, Haoqi Sun, Sophie Lehnerer, Lea Gerischer, Maximilian Mönch, Christian Meisel, Andreas Meisel, Pushpa Narayanaswami   +7 more
wiley   +1 more source

Environmental education by the subject of pesticides: an analysi of the official documents

, 2018
Valdenea Ferreira Henemann
openalex   +1 more source

Report of the Committee on Economic and Monetary Affairs and Industrial Policy on the Commission proposal for a Council directive on the general arrangements for products subject to excise duty and on the holding and movement of such products (COM(90) 0431 - C3-0391/90), Part B: Explanatory statement. Session Documents 1991, Document A3-0137/91/PART B, 27 May 1991 [PDF]

, 1991
Benjamin Patterson
openalex  

A Survey on Automatic Semantic Subject Indexing of Documents using Big Data Analytics

, 2018
K. Swanthana
openalex   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

Drug repurposing in cancer research: a bibliometric analysis. [PDF]

Discov Oncol
Ndidi US, Ogra IO, Jonathan EU, Iroha OK.   +3 more
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source