نتائج البحث - "Channelopathies/diagnosis"

1

Identification of mutations in genes associated with hereditary channel diseases through exomic analysis

المساهمون: Bermudez Santana, Clara Isabel, Cabrera Pérez, Rodrígo, Rnomica Teórica y Computacional

مصطلحات موضوعية: Channelopathies/diagnosis, Cardiac channelopathies, Sudden death, Exomic analysis, Variants, Variantes, 614 - Medicina Forense, incidencia de lesiones, heridas, enfermedades, medicina preventiva pública [610 - Medicina y salud], Secuenciación del Exoma, Genes, NGS, Exome Sequencing, Muerte Súbita, 576 - Genética y evolución [570 - Biología], Canalopatías/diagnóstico, Análisis exómico, Canalopatías cardiacas

وصف الملف: xx, 175 páginas; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1326::9b9d3f14e3a73f0d3b8f79744d6697bcTest
https://repositorio.unal.edu.co/handle/unal/83953Test

2

دورية أكاديمية

Diagnostics in skeletal muscle channelopathies.

المؤلفون: Vicino, A., Brugnoni, R., Maggi, L.

المصدر: Expert review of molecular diagnostics, vol. 23, no. 12, pp. 1175-1193

مصطلحات موضوعية: Humans, Myotonia/diagnosis, Myotonia/genetics, Channelopathies/diagnosis, Channelopathies/genetics, Muscle, Skeletal, Myotonic Disorders/genetics, Paralyses, Familial Periodic, Mutation, Paralysis, CLCN1, KCNJ2, KCNJ5, Non-dystrophic myotonia, periodic paralysis, RYR1 genes, SCN4A

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38009256; info:eu-repo/semantics/altIdentifier/eissn/1744-8352; https://serval.unil.ch/notice/serval:BIB_0E1B52861E28Test; urn:issn:1473-7159

الإتاحة: https://doi.org/10.1080/14737159.2023.2288258Test
https://serval.unil.ch/notice/serval:BIB_0E1B52861E28Test

View record in BASE

3

رسالة جامعية

Identificación de mutaciones en genes asociados a canalopatías hereditarias mediante análisis exómico ; Identification of mutations in genes associated with hereditary channel diseases through exomic analysis

المؤلفون: Alape Ariza, Joseph

المساهمون: Bermudez Santana, Clara Isabel, Cabrera Pérez, Rodrígo, Rnomica Teórica y Computacional

وصف الملف: xx, 175 páginas; application/pdf

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Eur J Heart Fail. 2011 Nov;13(11):1185-92. doi:10.1093/eurjhf/hfr074.; Wang X, et al. O-GlcNAcase deficiency suppresses skeletal myogenesis and insulin sensitivity in mice through the modulation of mitochondrial homeostasis. Diabetologia. 2016;59(6):1287–1296; Wang, J., et al., Diagnostic yield of clinical next-generation sequencing panels for epilepsy. JAMA Neurol, 2014. 71(5): p. 650-1; Wang, K., Li, M. and Hakonarson, H. (2010) ANNOVAR: Functional Annotation of Genetic Variants from High-Throughput Sequencing Data. Nucleic Acids Research, 38, e164. http://dx.doi.org/10.1093/nar/gkq603Test; Warde-Farley D, Donaldson SL, Comes O, Zuberi K, Badrawi R, Chao P, et al. (2010). The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function. Nucleic Acids Res. 38: W214–20; Ware JS, et al. Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. N Engl J Med. 2016 Jan 6. Doi:10.1056/NEJMoa1505517; Ware JS, Walsh R, Cunningham F, Birney E, Cook SA. Paralogous annotation of disease-causing variants in long QT syndrome genes. Hum Mutat. 2012 Aug;33(8):1188-1191. doi:10.1002/humu.22114. Epub 2012 Jun 7. PMID: 22581653; PMCID: PMC4640174; Watanabe H, Minamino T. Rare Variants in ANK2 Associated With Various Inherited Arrhythmia Syndromes. Circ J. 2016 Nov 25;80(12):2423-2424. doi:10.1253/circj.CJ-16-1085. Epub 2016 Nov 3. PMID: 27818464; Wei, Jinhuan; Ni, Xuejun; Dai, Yanfei; Chen, Xi; Ding, Sujun; Bao, Jingyin; Xing, Lingyan. 2021. Identification of genes associated with sudden cardiac death: a network- and pathway-based approach JF. Journal of Thoracic Disease; Vol 13, No 6 (June 28, 2021): https://jtd.amegroups.com/article/view/53234Test; Wei, Q., Wang, L., Wang, Q., Kruger, W. D. & Dunbrack, R. L., Jr Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase. 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Calcium channels--basic aspects of their structure, function and gene encoding; anesthetic action on the channels--a review. Can J Anaesth. 2002 Feb;49(2):151-64; Yang, H. and Wang, K. (2015) Genomic Variant Annotation and Prioritization with ANNOVAR and wANNOVAR. Nature Protocols, 10, 1556-1566. http://dx.doi.org/10.1038/nprot.2015.105Test; Year: 2020 Vol. 24 - N. 14 Pages: 7732-7744 DOI:10.26355/eurrev_202007_22299.; Yeung CY, Lam KS, Li SW, et al. Sudden cardiac death after myocardial infarction in type 2 diabetic patients with no residual myocardial ischemia. Diabetes Care 2012;35:2564-9.; Zhang S, Lei L, Fan Z, Su S, Duo J, Luan Q, Lu Y, Di L, Wang M, Da Y. Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies. Front Neurol. 2021 Nov 19;12:766942. doi:10.3389/fneur.2021.766942. PMID: 34867752; PMCID: PMC8639696.; Zhang, Z. et al. A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Hum Mol Genet 22, 3789–97 (2013).; Zhang, Z., Teng, S., Wang, L., Schwartz, C. E. & Alexov, E. Computational analysis of missense mutations causing Snyder-Robinson syndrome. Hum Mutat 31, 1043–9 (2010).; Zipes et al., 2006. ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death. Circulation. 114:e385-484.; Zou, C., Gong, J., & Li., H. 2013. An improved sequence based prediction protocol for DNAbinding proteins using SVM and comprehensive feacture analysis. BMC Bioinformatics, 14(1). 1. http://doi.org/10.1186/1471-2105--14-90Test; https://repositorio.unal.edu.co/handle/unal/83953Test; Universidad Nacional de Colombia; Repositorio Institucional Universidad Nacional de Colombia; https://repositorio.unal.edu.coTest/

الإتاحة: https://doi.org/10.1016/j.molcel.2019.02.007Test
https://doi.org/10.1002/humu.23626Test
https://doi.org/10.7326/0003-4819-149-3-200808050-00020Test
https://doi.org/10.1096/fj.201600467RTest
https://doi.org/10.1161/CIRCGEN.120.002929Test
https://doi.org/10.1186/s43141-021-00288-yTest
https://doi.org/10.1016/j.jacbts.2020.05.013Test
https://doi.org/10.1016/j.jacc.2017.10.054Test
https://doi.org/10.1016/j.echo.2010.12.008Test
https://doi.org/10.3389/fphar.2021.761275Test

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4

دورية أكاديمية

Rare neurological channelopathies--networks to study patients, pathogenesis and treatment

المؤلفون: Jen, Joanna C, Ashizawa, Tetsuo, Griggs, Robert C, Waters, Michael F

المصدر: Translational Neuroscience

مصطلحات موضوعية: Biomedical Research (economics, methods), Channelopathies (diagnosis, epidemiology, therapy), Clinical Trials as Topic (economics, Humans, Multicenter Studies as Topic (economics, Patient Selection, Treatment Outcome

العلاقة: https://scholar.barrowneuro.org/neurobiology/1335Test

الإتاحة: https://scholar.barrowneuro.org/neurobiology/1335Test

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5

Recommendations for participation in leisure-time physical activity and competitive sports of patients with arrhythmias and potentially arrhythmogenic conditions. Part 2: ventricular arrhythmias, channelopathies, and implantable defibrillators

المؤلفون: Domenico Corrado, Peter J. Schwartz, Sanjay Sharma, Mats Börjesson, Johan Saenen, Katja Zeppenfeld, Hein Heidbuchel, Michael Papadakis, Lluís Mont, Silvia Castelletti, Elena Arbelo, Hielko Miljoen, Josef Niebauer, Flavio D'Ascenzi, Serge Boveda, Antonio Pelliccia, Maria Sanz-de la Garza

المساهمون: Clinical sciences

المصدر: Europace
EP Europace, 23(1), 147-148x. OXFORD UNIV PRESS

مصطلحات موضوعية: medicine.medical_specialty, Leisure time, Physical activity, Sports, eligibility, implantable defibrillators, pacemakers, ventricular arrhythmias, 030204 cardiovascular system & hematology, Implantable defibrillators, law.invention, Cardioverter-Defibrillator, 03 medical and health sciences, 0302 clinical medicine, law, Physiology (medical), Humans, Medicine, cardiovascular diseases, 030212 general & internal medicine, Intensive care medicine, Channelopathies/diagnosis, Supraventricular arrhythmia, exercise, biology, business.industry, Athletes, Arrhythmias, Cardiac/diagnosis, Cardiac arrhythmia, Arrhythmias, Cardiac, biology.organism_classification, Defibrillators, Implantable, cardiovascular system, Artificial cardiac pacemaker, Channelopathies, Human medicine, Cardiology and Cardiovascular Medicine, business, human activities

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8613862fa1d5cfa73229419bdb6006b9Test
https://doi.org/10.1093/europace/euaa106Test

6

What the internist should know about hereditary muscle channelopathies

المؤلفون: Sophie Van Malderen, Véronique Bissay

المساهمون: Faculty of Medicine and Pharmacy, Internal Medicine Specializations

المصدر: Acta clinica Belgica. 73(1)

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Myotonic Disorder, 030204 cardiovascular system & hematology, Paralyses, Familial Periodic, 03 medical and health sciences, 0302 clinical medicine, channelopathy, Channelopathy, medicine, Paralysis, Internal Medicine, Paralyses, Familial Periodic/diagnosis, Myotonic Disorders/diagnosis, Humans, Channelopathies/diagnosis, Medicine(all), business.industry, Skeletal muscle, Dystrophy, Periodic paralysis, General Medicine, periodic, Myotonia, medicine.disease, nervous system diseases, body regions, medicine.anatomical_structure, myotonia, dystrophy, Channelopathies, medicine.symptom, business, 030217 neurology & neurosurgery, Myotonic Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc394cc87a5670a95c80831c3540d0d5Test
https://pubmed.ncbi.nlm.nih.gov/29088983Test

7

دورية أكاديمية

The prevalence and significance of a short QT interval in 18,825 low-risk individuals including athletes

المؤلفون: Dhutia, Harshil, Malhotra, Aneil, Parpia, Sameer, Gabus, Vincent, Finocchiaro, Gherardo, Mellor, Greg, Merghani, Ahmed, Millar, Lynne, Narain, Rajay, Sheikh, Nabeel, Behr, Elijah R, Papadakis, Michael, Sharma, Sanjay

المصدر: Dhutia , H , Malhotra , A , Parpia , S , Gabus , V , Finocchiaro , G , Mellor , G , Merghani , A , Millar , L , Narain , R , Sheikh , N , Behr , E R , Papadakis , M & Sharma , S 2016 , ' The prevalence and significance of a short QT interval in 18,825 low-risk individuals including athletes ' , British Journal of Sports Medicine , vol. 50 , no. 2 , pp. 124-9 . https://doi.org/10.1136/bjsports-2015-094827Test

مصطلحات موضوعية: Adolescent, Adult, Arrhythmias, Cardiac/diagnosis, Channelopathies/diagnosis, Cohort Studies, Electrocardiography, Female, Humans, Male, Prevalence, Risk Factors, Sports/physiology, United Kingdom/epidemiology, Young Adult

الإتاحة: https://doi.org/10.1136/bjsports-2015-094827Test
https://research.manchester.ac.uk/en/publications/5e535d27-3f5e-41a2-99f6-e3bd6af5de80Test

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8

دورية أكاديمية

Clinical evaluation of unselected cardiac arrest survivors in a tertiary center over a 1-yearperiod (the LAZARUZ study)

المؤلفون: Marstrand, P., Corell, P, Henriksen, F. L., Pehrson, Steen, Bundgaard, H, Theilade, Juliane

المصدر: Marstrand , P , Corell , P , Henriksen , F L , Pehrson , S , Bundgaard , H & Theilade , J 2016 , ' Clinical evaluation of unselected cardiac arrest survivors in a tertiary center over a 1-yearperiod (the LAZARUZ study) ' , Journal of Electrocardiology , vol. 49 , no. 5 , pp. 707-713 . https://doi.org/10.1016/j.jelectrocard.2016.05.008Test

مصطلحات موضوعية: Cardiac arrest survivor Family history Sudden cardiac death Non-invasive electrophysiology long qt syndrome arrhythmic death-syndrome sudden unexplained death heart-disease young-adults population relatives children interval age Cardiovascular System & Cardiology, Sudden cardiac death, Cardiac arrest survivor, Family history, Non-invasive electrophysiology, Medical History Taking, Tertiary Care Centers/statistics & numerical data, Prevalence, Prognosis, Comorbidity, Humans, Middle Aged, Risk Factors, Male, Survivors/statistics & numerical data, Denmark/epidemiology, Channelopathies/diagnosis, Heart Arrest/diagnosis, Electrocardiography, Adult, Female, Causality, Heart Function Tests, Longitudinal Studies

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/ba3be3cf-8d25-42b5-927b-1781e396f38dTest

الإتاحة: https://doi.org/10.1016/j.jelectrocard.2016.05.008Test
https://portal.findresearcher.sdu.dk/da/publications/ba3be3cf-8d25-42b5-927b-1781e396f38dTest

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9

Clinical evaluation of unselected cardiac arrest survivors in a tertiary center over a 1-year period (the LAZARUZ study)

المؤلفون: Juliane Theilade, Pernille Corell, Steen Pehrson, Finn Lund Henriksen, Henning Bundgaard, Peter Marstrand

المصدر: Marstrand, P, Corell, P, Henriksen, F L, Pehrson, S, Bundgaard, H & Theilade, J 2016, ' Clinical evaluation of unselected cardiac arrest survivors in a tertiary center over a 1-yearperiod (the LAZARUZ study) ', Journal of Electrocardiology, vol. 49, no. 5, pp. 707-713 . https://doi.org/10.1016/j.jelectrocard.2016.05.008Test

مصطلحات موضوعية: Male, Denmark, Disease, Comorbidity, 030204 cardiovascular system & hematology, Sudden cardiac death, Tertiary Care Centers, Electrocardiography, 0302 clinical medicine, Cardiac arrest survivor Family history Sudden cardiac death Non-invasive electrophysiology long qt syndrome arrhythmic death-syndrome sudden unexplained death heart-disease young-adults population relatives children interval age Cardiovascular System & Cardiology, Risk Factors, Prevalence, 030212 general & internal medicine, Longitudinal Studies, Survivors, Family history, Medical History Taking, medicine.diagnostic_test, Middle Aged, Prognosis, Survivors/statistics & numerical data, Causality, Cardiac arrest survivor, Tertiary Care Centers/statistics & numerical data, Heart Function Tests, Cardiology, cardiovascular system, Female, Cardiology and Cardiovascular Medicine, Clinical evaluation, Adult, medicine.medical_specialty, Heart Arrest/diagnosis, 03 medical and health sciences, Non-invasive electrophysiology, Internal medicine, medicine, Humans, Channelopathies/diagnosis, business.industry, medicine.disease, Denmark/epidemiology, Heart Arrest, Etiology, Channelopathies, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eb12b4b6dc4647e0e40beb248b9a29bTest
https://pubmed.ncbi.nlm.nih.gov/27237785Test

10

دورية أكاديمية

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

المؤلفون: Burgunder, J-M, Finsterer, J., Schöls, L., Spinazzola, A., Tabrizi, S. J., Tallaksen, C., Zeviani, M., Harbo, H. F., Gasser, T., EFNS, Szolnoki, Z., Fontaine, B., Baets, J., Van Broeckhoven, C., Di Donato, S., De Jonghe, P., Lynch, T., Mariotti, C.

المصدر: European journal of neurology 17(5), 641-648 (2010). doi:10.1111/j.1468-1331.2010.02985.x

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Channelopathies: diagnosis, Channelopathies: epidemiology, Channelopathies: genetics, Dementia: diagnosis, Dementia: epidemiology, Dementia: genetics, Epilepsy: diagnosis, Epilepsy: epidemiology, Epilepsy: genetics, Europe: epidemiology, Evidence-Based Medicine, Humans, Infant, Newborn, Migraine Disorders: diagnosis, Migraine Disorders: epidemiology, Migraine Disorders: genetics, Molecular Biology: methods, Molecular Biology: standards, Molecular Biology: trends, Molecular Diagnostic Techniques: methods, Molecular Diagnostic Techniques: standards, Molecular Diagnostic Techniques: trends, Societies, Medical: standards, Medical: trends, Stroke: diagnosis, Stroke: epidemiology, Stroke: genetics

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/1471-0552; info:eu-repo/semantics/altIdentifier/issn/1351-5101; info:eu-repo/semantics/altIdentifier/issn/1468-1331; info:eu-repo/semantics/altIdentifier/pmid/pmid:20298421; https://pub.dzne.de/record/136043Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-02365%22Test

الإتاحة: https://doi.org/10.1111/j.1468-1331.2010.02985.xTest
https://pub.dzne.de/record/136043Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-02365%22Test

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