scholarly journals Early-Onset, Slow Progression of Cone Photoreceptor Dysfunction and Degeneration in CNG Channel Subunit CNGB3 Deficiency

2011 ◽  
Vol 52 (6) ◽  
pp. 3557 ◽  
Author(s):  
Jianhua Xu ◽  
Lynsie Morris ◽  
Steven J. Fliesler ◽  
David M. Sherry ◽  
Xi-Qin Ding
Keyword(s):  
Early Onset ◽  
Cone Photoreceptor ◽  
Slow Progression ◽  
Cng Channel

scholarly journals Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy

2018 ◽  
Vol 128 (12) ◽  
pp. 5663-5675 ◽  
Author(s):  
Markus Burkard ◽  
Susanne Kohl ◽  
Timm Krätzig ◽  
Naoyuki Tanimoto ◽  
Christina Brennenstuhl ◽  
...  
Keyword(s):  
Cone Photoreceptor ◽  
Cng Channel

scholarly journals A Biomedical Voice Measurement Diagnosis of Parkinson’s Disease through the utilization of Artificial Neural Network

2021 ◽  
Vol 2071 (1) ◽  
pp. 012038
Author(s):  
N F M Ayap ◽  
B A Eugenio ◽  
J I V Hinolan ◽  
J C V Puno ◽  
R G Baldovino ◽  
...  
Keyword(s):  
Neural Network ◽  
Artificial Neural Network ◽  
Medical Cost ◽  
Early Onset ◽  
External Factors ◽  
Medical Field ◽  
Human Voice ◽  
Slow Progression ◽  
Detection And Diagnosis ◽  
Classification Prediction

Abstract In 2016 alone, there were a total of 120,000 cases of PD diagnosed and documented, however, experts believe that there are still loss cases which remain to be undiagnosed because of external factors such as medical cost and accuracy of diagnosis. The detection and diagnosis of PD on its early onset has become a problem in the medical field because of the slow progression of its symptoms. With the advent of technology, different diagnosing methods are being introduced and explored - one of which is through the concept of Neural Network. This paper highlights the human voice of patients using Multilayer Perceptron Neural Network (MLP) to accurately diagnose individuals who are diagnosed with PD. It was seen that the MLP classification prediction has achieved an average of 91.5% accuracy.

scholarly journals Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

2010 ◽  
Vol 18 (8) ◽  
pp. 965-968 ◽  
Author(s):  
Ulf Edener ◽  
Janine Wöllner ◽  
Ute Hehr ◽  
Zacharias Kohl ◽  
Stefan Schilling ◽  
...  
Keyword(s):  
Early Onset ◽  
Slow Progression ◽  
Generation Family ◽  
Dominant Ataxia

scholarly journals Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

2009 ◽  
Vol 85 (2) ◽  
pp. 240-247 ◽  
Author(s):  
Alberta A.H.J. Thiadens ◽  
Anneke I. den Hollander ◽  
Susanne Roosing ◽  
Sander B. Nabuurs ◽  
Renate C. Zekveld-Vroon ◽  
...  
Keyword(s):  
Early Onset ◽  
Homozygosity Mapping ◽  
Cone Photoreceptor

Early onset alpha-mannosidosis with slow progression in three Hispanic males

2007 ◽  
Vol 49 (11) ◽  
pp. 854-857 ◽  
Author(s):  
Michael J Lyons ◽  
Tim Wood ◽  
Lesby Espinoza ◽  
Hilde Monica Frostad Riise Stensland ◽  
Kenton R Holden
Keyword(s):  
Early Onset ◽  
Hispanic Males ◽  
Slow Progression
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