Results 261 to 270 of about 2,227,534 (337)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Learning resources for the future of engineering education [PDF]

, 2007
Brabazon, Dermot, O'Keeffe, Muireann
core  

Teaching Method of Mechanical Design and Engineering Graphics(Special Issue on Engineering Education)

, 1972
G. Takeshi Sato
openalex   +2 more sources

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

A User Interface (UI) and User eXperience (UX) evaluation framework for cyberlearning environments in computer science and software engineering education. [PDF]

Heliyon, 2020
Alomari HW, Ramasamy V, Kiper JD, Potvin G.   +3 more
europepmc   +1 more source

Audio-Visual Education for Teaching Basic Engineering(Special Issue on Engineering Education)

, 1972
Masanobu YAMAMASU
openalex   +2 more sources

Technical High School Education (and Education in Mechanical Engineering) Present Status and Future Problems

, 1976
Shigematsu OHKI
openalex   +2 more sources

Colchicine Concentrations and Relationship With Colchicine Efficacy and Adverse Events: Post Hoc Analysis of a Randomized Clinical Trial of Colchicine for Gout Flare Prophylaxis

Arthritis Care &Research, EarlyView.
Objective Our objective was to examine the relationship between colchicine plasma concentrations and clinical and demographic factors and to determine the relationship between colchicine concentrations and colchicine efficacy and colchicine‐specific adverse events.
Lisa K. Stamp, Anne Horne, Borislav Mihov, Jill Drake, Janine Haslett, Peter Chapman, Daniel F. B. Wright, Christopher Frampton, Nicola Dalbeth   +8 more
wiley   +1 more source

Demand on the Mechanical Engineering Education from Mechanical Industry

, 1978

openalex   +2 more sources

Understanding Contributors of Resilience in Youth With Childhood‐Onset Systemic Lupus Erythematosus Through a Socioecological Lens: A Mixed‐Methods Study

Arthritis Care &Research, EarlyView.
Objective This study aimed to identify themes contributing to resilience in childhood‐onset systemic lupus erythematosus (cSLE), distinguish between profiles of resilience, and examine how they relate to underlying themes and patient characteristics. Methods We conducted a mixed‐methods study of 21 patients with cSLE aged 11 to 19 years at a Canadian ...
Isabella Zaffino, Louise Boulard, Joanna Law, Asha Jeyanathan, Lawrence Ng, Sandra Williams‐Reid, Kiah Reid, Angela Cortes, Eugene Cortes, Ashley Danguecan, Deborah M. Levy, Linda T. Hiraki, Andrea M. Knight   +12 more
wiley   +1 more source