Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Susan Brammah"'
Autor:
Gaurav Sutrave, Adam Maundrell, Caitlin Keighley, Zoe Jennings, Susan Brammah, Min-Xia Wang, Roger Pamphlett, Cameron E. Webb, Damien Stark, Helen Englert, David Gottlieb, Ian Bilmon, Matthew R. Watts
Publikováno v:
Emerging Infectious Diseases, Vol 24, Iss 8, Pp 1528-1531 (2018)
We describe the successful management of Anncaliia algerae microsporidial myositis in a man with graft versus host disease after hemopoietic stem cell transplantation. We also summarize clinical presentation and management approaches and discuss the
Externí odkaz:
https://doaj.org/article/a89290c841544952a5a3d4e521091a05
Autor:
Matthew R. Watts, Renee C.F. Chan, Elaine Y.L. Cheong, Susan Brammah, Kate R. Clezy, Chiwai Tong, Deborah Marriott, Cameron E. Webb, Bobby Chacko, Vivienne Tobias, Alexander C. Outhred, Andrew S. Field, Michael V. Prowse, James V. Bertouch, Damien Stark, Stephen W. Reddel
Publikováno v:
Emerging Infectious Diseases, Vol 20, Iss 2, Pp 185-191 (2014)
The insect microsporidian Anncaliia algerae was first described in 2004 as a cause of fatal myositis in an immunosuppressed person from Pennsylvania, USA. Two cases were subsequently reported, and we detail 2 additional cases, including the only nonf
Externí odkaz:
https://doaj.org/article/ccebd282fc5844cda339962468149c37
Autor:
Lisa G. Riley, Sandra T. Cooper, Himanshu Joshi, Beryl B. Cummings, Samantha J. Bryen, Min-Xia Wang, Susan Brammah, Frances J. Evesson, Leigh B. Waddell, Roula Ghaoui, Leonard Kritharides, Alastair Corbett, Daniel G. MacArthur
Publikováno v:
Eur J Hum Genet
We establish autosomal recessive DES variants p.(Leu190Pro) and a deep intronic splice variant causing inclusion of a frameshift-inducing artificial exon/intronic fragment, as the likely cause of myopathy with cardiac involvement in female siblings.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51c5ee9357a6ab9a96a476703b57c3f7
https://doi.org/10.1038/s41431-019-0393-6
https://doi.org/10.1038/s41431-019-0393-6
Autor:
Caitlin Keighley, Helen Englert, Damien Stark, Zoe Jennings, Adam Maundrell, Roger Pamphlett, David Gottlieb, Ian Bilmon, Susan Brammah, Matthew R Watts, Cameron E. Webb, Gaurav Sutrave, Min-Xia Wang
Publikováno v:
Emerging Infectious Diseases, Vol 24, Iss 8, Pp 1528-1531 (2018)
Emerging Infectious Diseases
Emerging Infectious Diseases
We describe the successful management of Anncaliia algerae microsporidial myositis in a man with graft versus host disease after hemopoietic stem cell transplantation. We also summarize clinical presentation and management approaches and discuss the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e8ec409d4b166f5e4200e41f9555622
https://wwwnc.cdc.gov/eid/article/24/8/17-2002_article
https://wwwnc.cdc.gov/eid/article/24/8/17-2002_article
Autor:
Sarah A. Sandaradura, Kristi J. Jones, Annapurna Sudarsanam, Mark R. Davis, Daniel G. MacArthur, Amanda Charlton, Adam Bournazos, Leigh B. Waddell, Susan Brammah, Christopher Troedson, Amali Mallawaarachchi, Meredith Wilson, Benjamin M. Nash, Sandra T. Cooper, Gregory Peters, Elizabeth M. Algar, Beryl B. Cummings, Kathryn N. North, Nigel G. Laing
Publikováno v:
Human Mutation. 39:383-388
A male neonate presented with severe weakness, hypotonia, contractures and congenital scoliosis. Skeletal muscle specimens showed marked atrophy and degeneration of fast fibres with striking nemaline rods and hypertrophy of slow fibres that were ultr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62e061ec8ba11632024b73f7b258d75d
https://doi.org/10.1002/humu.23385
https://doi.org/10.1002/humu.23385
Autor:
Cigdem Ozkara, Angelo Labate, Sara E. Mole, Alan McDougall, Antonio Gambardella, Michael S. Hildebrand, Sulekha Rajagopalan, Vincenzo Belcastro, Danya F. Vears, Hans Henrik M. Dahl, Loretta Giuliano, Karen Oliver, Michael Farrell, Vito Sofia, Barbara Garavaglia, Samuel F. Berkovic, Frederick Andermann, Julia Rankin, Silvana Franceschetti, Stirling Carpenter, Michela Morbin, Alessandro Simonati, Eva Andermann, Penina Krieger, Umberto Aguglia, John A. Damiano, Adam Zeman, Barbara Castellotti, Susan Brammah, Filippo M. Santorelli, Laura Canafoglia
Publikováno v:
Brain (Online) 142 (2019): 59–69. doi:10.1093/brain/awy297
info:cnr-pdr/source/autori:Samuel F. Berkovic 1, Karen L. Oliver 1, Laura Canafoglia 2, Penina Krieger 1, John A. Damiano 1, Michael S. Hildebrand 1, Michela Morbin 3,* Danya F. Vears 1, Vito Sofia 4, Loretta Giuliano 4, Barbara Garavaglia 5, Alessandro Simonati 6, Filippo M. Santorelli 7, Antonio Gambardella 8, Angelo Labate 8, Vincenzo Belcastro 9, Barbara Castellotti 10, Cigdem Ozkara 11, Adam Zeman 12, Julia Rankin 13, Sara E. Mole 14, Umberto Aguglia 15,16, Michael Farrell 17, Sulekha Rajagopalan 18, Alan McDougall 19, Susan Brammah 20, Frederick Andermann 21,22, Eva Andermann 21,22, Hans-Henrik M. Dahl 1, Silvana Franceschetti 2 and Stirling Carpenter 23/titolo:Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features./doi:10.1093%2Fbrain%2Fawy297/rivista:Brain (Online)/anno:2019/pagina_da:59/pagina_a:69/intervallo_pagine:59–69/volume:142
info:cnr-pdr/source/autori:Samuel F. Berkovic 1, Karen L. Oliver 1, Laura Canafoglia 2, Penina Krieger 1, John A. Damiano 1, Michael S. Hildebrand 1, Michela Morbin 3,* Danya F. Vears 1, Vito Sofia 4, Loretta Giuliano 4, Barbara Garavaglia 5, Alessandro Simonati 6, Filippo M. Santorelli 7, Antonio Gambardella 8, Angelo Labate 8, Vincenzo Belcastro 9, Barbara Castellotti 10, Cigdem Ozkara 11, Adam Zeman 12, Julia Rankin 13, Sara E. Mole 14, Umberto Aguglia 15,16, Michael Farrell 17, Sulekha Rajagopalan 18, Alan McDougall 19, Susan Brammah 20, Frederick Andermann 21,22, Eva Andermann 21,22, Hans-Henrik M. Dahl 1, Silvana Franceschetti 2 and Stirling Carpenter 23/titolo:Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features./doi:10.1093%2Fbrain%2Fawy297/rivista:Brain (Online)/anno:2019/pagina_da:59/pagina_a:69/intervallo_pagine:59–69/volume:142
Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic storage material, but distinction from normal age-related accu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f8a4d4b1478c3413fb6151e97cff45d
http://hdl.handle.net/20.500.11769/407712
http://hdl.handle.net/20.500.11769/407712
Autor:
Susan Brammah, Honey Nagakura, Christopher T. Gordon, Laurence Hubert, Andrea M. Lewis, Renee Carroll, Richard H. Scott, Alexandrine Garrigue, Melanie Leffler, Jozef Gecz, Michael Field, Lucinda Murray, Sarah Risen, Seema R. Lalani, Marie Shaw, Geneviève de Saint Basile, Augusto Rendon, Raman Kumar, Tracy Dudding-Byth, LaDonna Immken, Patrick Nitschké, Arnold Munnich, Jeanne Amiel, Mark J. Cowley, Judy Spies, Bronwyn Kerr, Myriam Oufadem, Nina Powell-Hamilton, Claude Besmond, John D. Pollard, Emma Kivuva, Christine Bole-Feysot, William G. Newman, Jill A. Rosenfeld, Elizabeth E. Palmer, Jessica Tusi, Allison Tam, Richard Webster, Francesca Filippini, Marlène Rio, André E. Minoche, Fan Xia
Publikováno v:
Kumar, R, Gordon, C T, Shaw, M, Hubert, L, Carroll, R, Rio, M, Murray, L, Leffler, M, Dudding-Byth, T, Oufadem, M, Lalani, S R, Lewis, A M, Xia, F, Tam, A, Webster, R, Brammah, S, Filippini, F, Spies, J, Minoche, A E, Cowley, M J, Risen, S, Powell-Hamilton, N N, Tusi, J E, Immken, L, Nagakura, H, Bole-Feysot, C, Nitschké, P, Garrigue, A, de Saint Basile, G, Kivuva, E, Rendon, A, Munnich, A, Newman, W, Kerr, B, Besmond, C, Rosenfeld, J A, Amiel, J, Gecz, J & DDD Study 2017, ' A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations ', American Journal of Human Genetics, vol. 101, no. 6, pp. 995-1005 . https://doi.org/10.1016/j.ajhg.2017.10.009
A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef7205c54a2bbf1a7d269eb67f24228
https://www.research.manchester.ac.uk/portal/en/publications/a-recurrent-de-novo-nonsense-variant-in-zswim6-results-in-severe-intellectual-disability-without-frontonasal-or-limb-malformations(87987c4f-208a-4091-b33d-86b418060ef2).html
https://www.research.manchester.ac.uk/portal/en/publications/a-recurrent-de-novo-nonsense-variant-in-zswim6-results-in-severe-intellectual-disability-without-frontonasal-or-limb-malformations(87987c4f-208a-4091-b33d-86b418060ef2).html
Autor:
Simranpreet Kaur, Akanchha Kesari, Eric P. Hoffman, Amanda Charlton, Susan Brammah, Jaya Punetha, Gina L. O’Grady, Kathryn N. North, Emily C. Oates, Heather A. Best, Biljana Ilkovski, Nigel F. Clarke
Publikováno v:
European Journal of Human Genetics. 23:883-886
Variants in ACTA1, which encodes α-skeletal actin, cause several congenital myopathies, most commonly nemaline myopathy. Autosomal recessive variants comprise approximately 10% of ACTA1 myopathy. All recessive variants reported to date have resulted
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df07e0936e184052460fca9beb428d5c
https://doi.org/10.1038/ejhg.2014.169
https://doi.org/10.1038/ejhg.2014.169
Autor:
Kate Clezy, Alexander C. Outhred, Stephen W. Reddel, Vivienne Tobias, Andrew S. Field, Damien Stark, Elaine Y.L. Cheong, Susan Brammah, James V. Bertouch, Matthew R Watts, Michael V. Prowse, Bobby Chacko, Deborah Marriott, Cameron E. Webb, Chiwai Tong, Renee C.F. Chan
Publikováno v:
Emerging Infectious Diseases, Vol 20, Iss 2, Pp 185-191 (2014)
Emerging Infectious Diseases
Emerging Infectious Diseases
Immunosuppression is a risk factor for serious infection in humans.
The insect microsporidian Anncaliia algerae was first described in 2004 as a cause of fatal myositis in an immunosuppressed person from Pennsylvania, USA. Two cases were subsequ
The insect microsporidian Anncaliia algerae was first described in 2004 as a cause of fatal myositis in an immunosuppressed person from Pennsylvania, USA. Two cases were subsequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::327462c34344d354ff566a6ced60d34b
https://wwwnc.cdc.gov/eid/article/20/2/13-1126_article
https://wwwnc.cdc.gov/eid/article/20/2/13-1126_article
Publikováno v:
Journal of Urology. 188:2294-2299
Men with detrusor failure and chronic urinary retention have a lower voiding success rate and higher postoperative morbidity following transurethral prostatectomy than those with bladder outlet obstruction. Current investigations, including urodynami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b3d7527880bef9ed2cf9fa488e30646
https://doi.org/10.1016/j.juro.2012.08.010
https://doi.org/10.1016/j.juro.2012.08.010