المؤلفون: Nazgol Motamed-Gorji, Youssef Khalil, Cristina Gonzalez-Robles, Shamsher Khan, Philippa Mills, Hector Garcia-Moreno, Heather Ging, Ambreen Tariq, Peter T. Clayton, Paola Giunti

المصدر: Antioxidants, Vol 13, Iss 5, p 561 (2024)

مصطلحات موضوعية: biochemical biomarker, bile acid, Niemann–Pick type C, oxidative stress, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-3921/13/5/561; https://doaj.org/toc/2076-3921

URL الوصول: https://doaj.org/article/0efdb0f636d045a4a21de458aecaca0b

المؤلفون: Suran Nethisinghe, Maheswaran Kesavan, Heather Ging, Robyn Labrum, James M. Polke, Saiful Islam, Hector Garcia-Moreno, Martina F. Callaghan, Francesca Cavalcanti, Mark A. Pook, Paola Giunti

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 14, p 7507 (2021)

مصطلحات موضوعية: Friedreich’s ataxia, FRDA, ataxia, GAA repeat interruption, triplet repeat primed PCR, TP PCR, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/14/7507; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/19917918fd22477d8a31b6f07fe8f781

المؤلفون: Sahar Al-Mahdawi, Heather Ging, Aurelien Bayot, Francesca Cavalcanti, Valentina La Cognata, Sebastiano Cavallaro, Paola Giunti, Mark A. Pook

المصدر: Frontiers in Cellular Neuroscience, Vol 12 (2018)

مصطلحات موضوعية: Friedreich ataxia, FRDA, frataxin, GAA repeat mutation, GAA repeat interruptions, trinucleotide repeat expansion disease, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fncel.2018.00443/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/16446b7e2f3840069890344f2540efe4

المؤلفون: Suran Nethisinghe, Wei N. Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P. Lunn, Kailash P. Bhatia, Nicholas W. Wood, John Hardy, James M. Polke, Liana Veneziano, Alfredo Brusco, Mary B. Davis, Paola Giunti

المصدر: Frontiers in Cellular Neuroscience, Vol 12 (2018)

مصطلحات موضوعية: PolyQ, ataxia, CAG repeat expansions, SCA17, neurodegeneration, genetic counseling, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fncel.2018.00429/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/15eee59640234cc3a342ef919bb83ae9

المؤلفون: Jenny Lange, Olivia Gillham, Michael Flower, Heather Ging, Simon Eaton, Sneha Kapadia, Andreas Neueder, Michael R. Duchen, Patrizia Ferretti, Sarah J. Tabrizi

المصدر: Progress in Neurobiology. 225:102448

مصطلحات موضوعية: General Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b9df8015ba2755688b1b82a495929c91
https://doi.org/10.1016/j.pneurobio.2023.102448

المؤلفون: Suran, Nethisinghe, Maheswaran, Kesavan, Heather, Ging, Robyn, Labrum, James M, Polke, Saiful, Islam, Hector, Garcia-Moreno, Martina F, Callaghan, Francesca, Cavalcanti, Mark A, Pook, Paola, Giunti

المصدر: International Journal of Molecular Sciences

مصطلحات موضوعية: Adult, FRDA, TP PCR, frataxin, Adolescent, triplet repeat primed PCR, ataxia, Age Factors, Friedreich’s ataxia, Middle Aged, United Kingdom, Article, Cohort Studies, Young Adult, Phenotype, Friedreich Ataxia, FXN, Humans, Age of Onset, Child, Trinucleotide Repeat Expansion, GAA repeat interruption

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::12dfc9c409271eea969433f8e72a0bcc
https://pubmed.ncbi.nlm.nih.gov/34299126

المؤلفون: Francesca Cavalcanti, Patrizia Spadafora, Antonio Qualtieri, Luigi Citrigno, Olivier Gallo, Gemma Di Palma, Suran Nethisinghe, Maheswaran Kesavan, Heather Ging, Robyn Labrum, James M. Polke, Saiful Islam, Hector Garcia-Moreno, Martina F. Callaghan, Mark A. Pook, Paola Giunti

المصدر: XXIV Congresso Nazionale Società Italiana di Genetica Umana SIGU, virtual edition, 17-19/11/2021
info:cnr-pdr/source/autori:Francesca Cavalcanti; Patrizia Spadafora; Antonio Qualtieri; Luigi Citrigno; Olivier Gallo; Gemma Di Palma; Suran Nethisinghe; Maheswaran Kesavan; Heather Ging; Robyn Labrum; James M. Polke; Saiful Islam; Hector Garcia-Moreno; Martina F. Callaghan; Mark A. Pook; Paola Giunti/congresso_nome:XXIV Congresso Nazionale Società Italiana di Genetica Umana SIGU/congresso_luogo:virtual edition/congresso_data:17-19%2F11%2F2021/anno:2021/pagina_da:/pagina_a:/intervallo_pagine

مصطلحات موضوعية: Atassia di Friedreich, GAA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::21bbef606f6ca5ace24cdc2ea4ec7995
https://publications.cnr.it/doc/461533

المؤلفون: Saiful Islam, Paola Giunti, Suran Nethisinghe, Hector Garcia-Moreno, Francesca Cavalcanti, Mark A. Pook, Robyn Labrum, James M Polke, Heather Ging, Martina F. Callaghan, Maheswaran Kesavan

المصدر: International journal of molecular sciences
22 (2021). doi:10.3390/ijms22147507
info:cnr-pdr/source/autori:Suran Nethisinghe; Maheswaran Kesavan; Heather Ging; Robyn Labrum; James M. Polke; Saiful Islam; Hector Garcia-Moreno; Martina F. Callaghan; Francesca Cavalcanti; Mark A. Pook; Paola Giunti/titolo:Interruptions of the FXN GAA repeat tract delay the age at onset of Friedreich's ataxia in a location dependent manner/doi:10.3390%2Fijms22147507/rivista:International journal of molecular sciences (Print)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:22
International Journal of Molecular Sciences, Vol 22, Iss 7507, p 7507 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 14

مصطلحات موضوعية: 0301 basic medicine, TP PCR, Ataxia, triplet repeat primed PCR, Dependent manner, QH301-705.5, Friedreich’s ataxia, Neurological disorder, Bioinformatics, FXN, Catalysis, Inorganic Chemistry, 03 medical and health sciences, 0302 clinical medicine, medicine, Gene silencing, Physical and Theoretical Chemistry, Biology (General), Molecular Biology, QD1-999, Spectroscopy, FRDA, frataxin, biology, business.industry, Frataxin, Triplet repeat, ataxia, Organic Chemistry, Intron, Friedreich's ataxia, General Medicine, medicine.disease, Computer Science Applications, Chemistry, 030104 developmental biology, biology.protein, medicine.symptom, Trinucleotide repeat expansion, business, Triplet repeat primed PCR, 030217 neurology & neurosurgery, GAA repeat interruption

وصف الملف: Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f53abec1d7f25fe1274229e17e3699

المؤلفون: Holly B. Kordasiewicz, Vanessa C. Wheeler, Marissa A Andrew, Michael Flower, Deanna Marchionini, Seung Kwak, José M. Carrillo, Cassandra A. McHugh, Heather Ging, Robert M. Bragg, Julie-Anne Rodier, Jeffrey P. Cantle, Sydney R. Coffey, Scott Zeitlin, David Howland, Hilary Wilkinson, C. Frank Bennett, Ricardo Mouro Pinto, Marina Kovalenko, Sarah J. Tabrizi, Georg Auburger, Joseph Hamilton, Jeffrey B. Carroll

مصطلحات موضوعية: Genetics, Pathogenesis, congenital, hereditary, and neonatal diseases and abnormalities, Huntingtin, nervous system, Somatic cell, animal diseases, mental disorders, Huntingtin Protein, Disease, Biology, nervous system diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3d6223761933271ca2f891e8b36eb09c
https://doi.org/10.1101/2020.07.23.218347

المؤلفون: Suran Nethisinghe, Anna Zeitlberger, Paola Giunti, Heather Ging

المصدر: Expert Opinion on Orphan Drugs. 6:203-217

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Congenital cerebellar ataxia, business.industry, Health Policy, Computational biology, medicine.disease, humanities, Novel gene, 03 medical and health sciences, Hereditary Ataxias, 030104 developmental biology, 0302 clinical medicine, Hereditary ataxia, Gene panel, Anticipation (genetics), medicine, Spinocerebellar ataxia, Pharmacology (medical), business, Pharmacology, Toxicology and Pharmaceutics (miscellaneous), Machado–Joseph disease, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5b9f36298ad16372645659bf120f2cc4
https://doi.org/10.1080/21678707.2018.1444477