Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Roula, Ghaoui"'
Autor:
Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay S. Ganesh, Roula Ghaoui, Kristi J. Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O'Donnell‐Luria, Gina L. O'Grady, Ikeoluwa A. Osei‐Owusu, Haloom Rafehi, Stephen W. Reddel, Richard H. Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1250-1266 (2024)
Abstract Objective Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence‐based recommendations for t
Externí odkaz:
https://doaj.org/article/79ad47869fef4ce592ef6200019d368c
Publikováno v:
BMJ Neurology Open, Vol 6, Iss Suppl 1 (2024)
Externí odkaz:
https://doaj.org/article/565ea66ba7e247f19e116428b4674cce
Autor:
Stephen Bacchi, Roula Ghaoui, Rudy Goh, Shaddy Elmasri, Lachlan Tamlin, Emily Burton, Alastair Ward
Publikováno v:
BMJ Neurology Open, Vol 6, Iss Suppl 1 (2024)
Externí odkaz:
https://doaj.org/article/64d6cd82a3924ba3b3b1235c3991c6bb
Publikováno v:
BMJ Neurology Open, Vol 6, Iss Suppl 1 (2024)
Externí odkaz:
https://doaj.org/article/8ee4a76117174451b89c0f3067be2a60
Autor:
Roula Ghaoui, Thuong T. Ha, Jennifer Kerkhof, Haley McConkey, Song Gao, Milena Babic, Rob King, Gianina Ravenscroft, Barbara Koszyca, Sophia Otto, Nigel G. Laing, Hamish Scott, Bekim Sadikovic, Karin S. Kassahn
Publikováno v:
Neuromuscular Disorders. 33:484-489
Refereed/Peer-reviewed Pathogenic variants in DNMT3A are most commonly associated with Tatton-Brown-Rahman Syndrome (TBRS), but includes other phenotypes such as Heyn-Sproul-Jackson syndrome and acute myeloid leukemia (AML). We describe a patient pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b860217063657c6b46b0ef7c4b513edc
https://doi.org/10.1016/j.nmd.2023.04.002
https://doi.org/10.1016/j.nmd.2023.04.002
Publikováno v:
BMJ Neurology Open, Vol 1, Iss 1 (2019)
A rare extramedullary manifestation of haematological malignancy, myeloid sarcoma is most commonly seen in patients with acute myeloid leukaemia. We report on an adult patient who presented with an atypical phenotype of progressive cranial neuropathy
Externí odkaz:
https://doaj.org/article/791ec22e4b2b4f63b74829b66c8ab656
Publikováno v:
JAMA Neurology.
This case report describes segmental uniparental isodisomy causing an “inside-to-outside” limb-girdle muscular dystrophy due to a homozygous mutation in POGLUT1.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31cd3625cbb5797e4edf5ecae55588d2
https://doi.org/10.1001/jamaneurol.2023.1286
https://doi.org/10.1001/jamaneurol.2023.1286
Autor:
Fabienne Edema-Hildebrand, Jacqui Russell, Catherine Bonifant, David Coman, Dominic Thyagarajan, David A. Mackey, Karen Crawley, Christine Wools, Nicholas J.C. Smith, Joy Lee, Merrilee Needham, Lisa S. Kearns, Maina P. Kava, Carolyn Ellaway, Christina Liang, Shanti Balasubramaniam, John Christodoulou, Rocio Rius, Carolyn M. Sue, Sean Murray, Drago Bratkovic, Roula Ghaoui
Publikováno v:
Internal Medicine Journal. 52:110-120
This document provides consensus-based recommendations for general physicians and primary care physicians who diagnose and manage patients with mitochondrial diseases (MD). It builds on previous international guidelines, with particular emphasis on c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2918f618b815207500affd0324f95ef5
https://doi.org/10.1111/imj.15505
https://doi.org/10.1111/imj.15505
Autor:
Eleina M. England, Samantha J. Bryen, Sandra T. Cooper, Hacer Durmus, Sunita Bijarnia-Mahay, Volker Straub, Jennifer Duff, Roula Ghaoui, Magdalena Mroczek, Ana Töpf, Daniel G. MacArthur
Publikováno v:
Neuromuscular Disorders. 30:310-314
Adenylosuccinate synthase (ADSSL1) is a muscle specific enzyme involved in the purine nucleotide cycle and responsible for the conversion of inosine monophosphate to adenosine monophosphate. Since 2016, when mutations in the ADSSL1 gene were first de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6027f6673c4b90130d13121d20aae4de
https://doi.org/10.1016/j.nmd.2020.02.006
https://doi.org/10.1016/j.nmd.2020.02.006
Autor:
Roula Ghaoui, Merrilee Needham
Publikováno v:
Advances in Clinical Neuroscience & Rehabilitation, Vol 19, Iss 3, Pp 17-20 (2020)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3322056c5cb30f1108976f2b1b528b58
https://doi.org/10.47795/ayyz8676
https://doi.org/10.47795/ayyz8676