Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Nigel F. Clarke"'
Autor:
Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G. MacArthur, Mark Davis, Nigel G. Laing, Nigel F. Clarke, Joshua Burns, Sandra T. Cooper, Kathryn N. North, Sarah A. Sandaradura, Gina L. O’Grady
Publikováno v:
npj Genomic Medicine, Vol 2, Iss 1, Pp 1-7 (2017)
Abstract Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing. High throughput or massively parallel seque
Externí odkaz:
https://doaj.org/article/7b114791b2e44d7cabd2c2fc9832f309
Autor:
Edoardo Malfatti, Dilson E. Rassier, Nigel F. Clarke, Stefan Conijn, Weikang Ma, Norma B. Romero, Malin Persson, Albert Kalganov, Sylvia J. P. Bogaards, Igor Kovacevic, Ger J.M. Stienen, Johan Lindqvist, Alan H. Beggs, Michaela Yuen, Josine M. de Winter, Barbara Joureau, Coen A.C. Ottenheijm, Thomas C. Irving
Publikováno v:
Annals of Neurology. 83:269-282
Objective Nemaline myopathy (NM) is one of the most common congenital nondystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of NM (ie, NEM3). ACTA1 encodes alpha-actin 1, the main
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3e9f59fc6a136827a2033dd5f5d9bf0d
https://doi.org/10.1002/ana.25144
https://doi.org/10.1002/ana.25144
Autor:
Andrew Biggin, Verity Pacey, Meghan Hutchence, Craig F Munns, Kathryn N. North, Julie Briody, Kristy Rose, Nigel F. Clarke
Publikováno v:
Bone Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0bc0c7561921390859802ee2f6497a53
https://doi.org/10.1530/boneabs.7.p200
https://doi.org/10.1530/boneabs.7.p200
Autor:
David R. Mowat, Taru Tukiainen, Himanshu Joshi, Ben Weisburd, Gina L. O'Grady, Elise Valkanas, Fathimath Faiz, Adam Bournazos, Simon Sadedin, Rebecca Gooding, Frances J. Evesson, Katherine R. Neas, Amanda Charlton, Hugo Sampaio, Michel Tchan, Kristi J. Jones, Monkol Lek, Nicole Graf, Jamie L. Marshall, Mark R. Davis, Charles Chan, Min-Xia Wang, Beryl B. Cummings, Daniel G. MacArthur, Alan Ma, Leigh B. Waddell, Samantha J. Bryen, Susan Arbuckle, Emily C. Oates, Sandra T. Cooper, Nigel F. Clarke, Sarah A. Sandaradura, Diane Kenwright, Michelle A. Farrar
Publikováno v:
Neurology Genetics. 7:e554
ObjectiveTo describe the diagnostic utility of whole-genome sequencing and RNA studies in boys with suspected dystrophinopathy, for whom multiplex ligation-dependent probe amplification and exomic parallel sequencing failed to yield a genetic diagnos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::84786fa6905974c6d00e8b619bc4f069
https://doi.org/10.1212/nxg.0000000000000554
https://doi.org/10.1212/nxg.0000000000000554
Autor:
Sandra T. Cooper, Tatiana Benavides, Simranpreet Kaur, Leigh B. Waddell, Monkol Lek, Nigel F. Clarke, Roula Ghaoui, Daniel G. MacArthur, Kathryn N. North
Publikováno v:
Neuromuscular Disorders. 26:500-503
TorsinA-interacting protein 1 (TOR1AIP1) gene is a novel gene that has recently been described to cause limb-girdle muscular dystrophy (LGMD) with mild dilated cardiomyopathy. We report a family with mutations in TOR1AIP1 where the striking clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a8590618e6a65801e5554f58f3a67c2
https://doi.org/10.1016/j.nmd.2016.05.013
https://doi.org/10.1016/j.nmd.2016.05.013
Autor:
Sandra T. Cooper, Mark R. Davis, Kathryn N. North, Nigel G. Laing, Nigel F. Clarke, Roula Ghaoui, Heather A. Best, Sarah A. Sandaradura, Emily C. Oates, Gina L. O'Grady, Monkol Lek, Simranpreet Kaur, Jaya Punetha, Daniel G. MacArthur, Francesco Muntoni, Leigh B. Waddell, Eric P. Hoffman, Shireen R. Lamandé
Publikováno v:
Annals of Neurology. 80:101-111
Objective To evaluate the diagnostic outcomes in a large cohort of congenital muscular dystrophy (CMD) patients using traditional and next generation sequencing (NGS) technologies. Methods A total of 123 CMD patients were investigated using the tradi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e3eed372109dea3fb226ed2e1713ec9
https://doi.org/10.1002/ana.24687
https://doi.org/10.1002/ana.24687
Autor:
Nicol C. Voermans, Balázs Kiss, Eun Jeong Lee, Alan H. Beggs, Christopher T. Pappas, Carina Wallgren-Pettersson, Michaela Yuen, Sandra Donkervoort, Vandana Gupta, Nigel F. Clarke, Edoardo Malfatti, Ger J.M. Stienen, Barbara Joureau, Katarina Pelin, Norma B. Romero, Henk Granzier, Josine M. de Winter, Carol C. Gregorio, Carsten G. Bönnemann, Baziel G.M. van Engelen, Simon Edvardson, Vilma Lotta Lehtokari, Coen A.C. Ottenheijm
Publikováno v:
Annals of Neurology. 79:959-969
Nemaline myopathy and congenital fiber type disproportion are among the most common nondystrophic congenital muscular disorders.1 Genes that are implicated in these myopathies encode proteins that are either components of the skeletal muscle thin fil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c9d47322ed45610b2984a90dd448f667
https://doi.org/10.1002/ana.24654
https://doi.org/10.1002/ana.24654
Autor:
Helen Young, Kathryn N. North, Nigel F. Clarke, Deborah A Sival, Manoj P. Menezes, Monica T. Y. Wong, Gina L. O'Grady, Tony Peduto, Conny M. A. van Ravenswaaij-Arts, Roula Ghaoui, Daniel G. MacArthur, Alan Ma, Monkol Lek, Merrilee Needham, Leigh B. Waddell
Publikováno v:
European Journal of Human Genetics, 24(8), 1216-1219. Nature Publishing Group
CHD7 variants are a well-established cause of CHARGE syndrome, a disabling multi-system malformation disorder that is often associated with deafness, visual impairment and intellectual disability. Less severe forms of CHD7-related disease are known t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60c72a09a72cbe637f842423ce3e4e62
https://doi.org/10.1038/ejhg.2015.276
https://doi.org/10.1038/ejhg.2015.276
Autor:
Richard Roxburgh, Sandra T. Cooper, Daniel G. MacArthur, Roula Ghaoui, Miriam Rodrigues, Nigel F. Clarke, David O. Hutchinson, Eoin Mulroy, Monkol Lek
Publikováno v:
Practical neurology. 17(4)
In 2000, a 26-year-old woman presented to the Auckland Hospital Neurology Department for assessment of chronic weakness. Medical history included stridor at age 1 month requiring intubation and ventilation and feeding problems requiring gastrostomy f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddf694672cea100667b560379d1f1f75
https://pubmed.ncbi.nlm.nih.gov/28433973
https://pubmed.ncbi.nlm.nih.gov/28433973
Autor:
Thomas L. Winder, Vilma-Lotta Lehtokari, Nigel F. Clarke, Kathryn N. North, K. Kiiski, Nigel G. Laing, Pauliina Repo, Alan H. Beggs, Kati Donner, Sarah A. Sandaradura, Carol J Saunders, Jennifer A. Frey, Jocelyn Laporte, Norma B. Romero, Carina Wallgren-Pettersson, Peter G. Barth, M. Marttila, Katarina Pelin, Johan T. den Dunnen
Publikováno v:
Human mutation, 35(12), 1418-1426. Wiley-Liss Inc.
Human Mutation, 35(12), 1418-1426
Human Mutation, 35(12), 1418-1426
A mutation update on the nebulin gene (NEB) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d5927a5cc3e87ed907200c4508cdc5
https://doi.org/10.1002/humu.22693
https://doi.org/10.1002/humu.22693