Results 91 to 100 of about 153,555 (331)

The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test

Sultan Qaboos University Medical Journal, 2013
Objectives: Pompe disease (glycogen storage disease type II) is a rare autosomal recessive lysosomal storage disease that is caused by acid alpha-glucosidase deficiency.
Aliya Alansari, Samira Al-Rawahi, Taher Ba-Omar, Mariam Al-Nabhani, Anand Date   +4 more
doaj  

The epidemiology of acute encephalitis.

, 2007
Encephalitis means inflammation of the brain matter. Despite being a rare condition, encephalitis is of public health importance worldwide because it has high morbidity and mortality.
Crowcroft, Natasha S, Granerod, Julia
core   +1 more source

Estimation of pedigree errors in the UK dairy population using microsatellite markers and the impact on selection [PDF]

, 2002
The proportion of cows in the UK dairy herd whose sires were misidentified was estimated using DNA markers. Genetic marker genotypes were determined on 568 cows (from 168 milk samples and 400 hair samples) and 96 putative sires (from semen samples).
Smith, D., Visscher, Peter, Williams, J.L., Woolliams, John   +3 more
core   +1 more source

Translating a Preclinically Tested 15 Hz rTMS Protocol to Humans With Chronic Spinal Cord Injury: A Safety and Feasibility Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Repetitive transcranial magnetic stimulation (rTMS) is a non‐invasive brain stimulation strategy with a demonstrated potential to reinforce the residual pathways after a spinal cord injury (SCI). A preclinically tested high‐frequency (15 Hz) rTMS (15 Hz rTMS) protocol was shown to induce corticospinal tract axon regeneration growth ...
Nabila Brihmat, Mehmed B. Bayram, Morgan Paine, Janelle Carnahan, Jian Zhong, Xiaofei Guan, Guang H. Yue, Soha Saleh, Gail F. Forrest   +8 more
wiley   +1 more source

Postnatal and non-invasive prenatal detection of β-thalassemia mutations based on Taqman genotyping assays. [PDF]

PLoS ONE, 2017
The β-thalassemias are genetic disorder caused by more than 200 mutations in the β-globin gene, resulting in a total (β0) or partial (β+) deficit of the globin chain synthesis. The most frequent Mediterranean mutations for β-thalassemia are: β039, β+IVSI-
Giulia Breveglieri, Anna Travan, Elisabetta D'Aversa, Lucia Carmela Cosenza, Patrizia Pellegatti, Giovanni Guerra, Roberto Gambari, Monica Borgatti   +7 more
doaj   +1 more source

Improved Allele‐Specific PCR Technique for Kidd Blood Group Genotyping [PDF]

Journal of Clinical Laboratory Analysis, 2013
BackgroundWe developed an allele‐specific polymerase chain reaction (AS‐PCR) technique for Kidd blood group genotyping. J. Clin. Lab. Anal. 27:53–58, 2013. © 2012 Wiley Periodicals, Inc.MethodsAltogether, 340 blood samples from Thai blood donors at the National Blood Centre, Thai Red Cross Society, were tested with anti‐Jka and anti‐Jkb using the gel ...
Oytip Nathalang, Pramote Sriwanitchrak, Kamphon Intharanut, Sasitorn Bejrachandra, Rudi Grams   +4 more
openaire   +3 more sources

Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia. Conventional magnetic resonance imaging (MRI) detects qualitative changes but cannot accurately quantify iron accumulation. Quantitative susceptibility
Özge Uygun, Alpay Özcan, Fuat Kaan Aras, Evrim Bozdemir, Sibel Uğur İşeri, Koray Kırımtay, Arzu Karabay, Murat Gültekin, Nihan Hande Akçakaya, Orkhan Mammadov, Gülay Kır, Dilek İnce Günal, Neşe Tuncer, Fatma Betül Özdilek, Banu Özen Barut, Ercan Köse, Hülya Apaydın, Asuman Ali, Sultan Çağırıcı, Pınar Topaloğlu, Alp Dinçer, Zuhal Yapıcı   +21 more
wiley   +1 more source

A novel technique for rapid automated genotyping of DNA polymorphisms in the mouse

Molecular and Cellular Probes, 1999
The ability to rapidly and reliably genotype mice is an important concern. Traditional methods employ labour intensive and time consuming techniques such as test crossing, gel electrophoresis or nucleic acid hybridization. Here we show that a new molecular biology workstation, the WAVE DNA Fragment Analysis System, can easily resolve polymerase chain ...
D.T. Gjerde, K.H. Hecker, A Davis, A. Kuklin, P.D. Taylor   +4 more
openaire   +3 more sources

Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuroinflammation driven by extracellular copper contributes to neuronal damage in Wilson's disease (WD). This study investigated the relationship between brain metal burden and peripheral neuroinflammation markers in WD. Methods We conducted a cross‐sectional study involving 89 participants, including patients with WD (n = 63 ...
Sung‐Pin Fan, Ya‐Fang Chen, Cheng‐Hsuan Li, Yih‐Chih Kuo, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Tai‐Chung Tseng, Tung‐Hung Su, Chien‐Ting Hsu, Huey‐Ling Chen, Chin‐Hsien Lin, Yen‐Hsuan Ni   +12 more
wiley   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source