Search Results - "Ghaoui, Roula"

Genetic mimics of cerebral palsy by Pearson, Toni S., Pons, Roser, Ghaoui, Roula, Sue, Carolyn M.

“…The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that may present with motor symptoms in early childhood, resulting in a…”
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3002 Proximal weakness and an elevated troponin I by James, Jonathan, Dishnica, Noel, Bate, Alex, Bacchi, Stephen, Ghaoui, Roula

“…Background/ObjectivesLimb girdle myopathies may have concurrent cardiomyopathy. The evaluation of biomarkers in this context, and appropriate screening with…”
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3131 The barriers to diagnosis: a neuromuscular perspective by Spicer, Dominic, Bacchi, Stephen, Kassahn, Karin S, Ghaoui, Roula

“…Background/ObjectivesDue to the complexity of neuromuscular diseases (NMD), patients can face significant delays in accessing appropriate diagnostic services…”
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3031 A fish out of water by Burton, Emily, Ward, Alastair, Tamlin, Lachlan, Elmasri, Shaddy, Goh, Rudy, Ghaoui, Roula, Bacchi, Stephen

“…Background/ObjectivesOverseas travellers may be predisposed to a number of medical illnesses. Language barriers, particularly pertaining to multilingual…”
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Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients by Mroczek, Magdalena, Durmus, Hacer, Bijarnia-Mahay, Sunita, Töpf, Ana, Ghaoui, Roula, Bryen, Samantha, Duff, Jennifer, England, Eleina, Cooper, Sandra T., MacArthur, Daniel G., Straub, Volker

“…•We report the first two non-Korean individuals with ADSSL1 variants.•We expand the phenotypic spectrum for patients with ADSSL1 variants.•Variants in ADSSL1…”
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Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin by Riley, Lisa G, Waddell, Leigh B, Ghaoui, Roula, Evesson, Frances J, Cummings, Beryl B, Bryen, Samantha J, Joshi, Himanshu, Wang, Min-Xia, Brammah, Susan, Kritharides, Leonard, Corbett, Alastair, MacArthur, Daniel G, Cooper, Sandra T

“…We establish autosomal recessive DES variants p.(Leu190Pro) and a deep intronic splice variant causing inclusion of a frameshift-inducing artificial…”
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TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy by Ghaoui, Roula, Benavides, Tatiana, Lek, Monkol, Waddell, Leigh B., Kaur, Simranpreet, North, Kathryn N., MacArthur, Daniel G., Clarke, Nigel F., Cooper, Sandra T.

“…•Expanding the phenotype of TOR1AIP1.•TOR1AIP1 associated with severe cardiac failure requiring transplantations in addition to limb-girdle muscular…”
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Axonal excitability in primary amyloidotic neuropathy by Hafner, Jessica, Ghaoui, Roula, Coyle, Luke, Burke, David, Ng, Karl

“…ABSTRACT Introduction: Acquired and hereditary amyloidosis can cause peripheral neuropathy, but the mechanisms by which this occurs have not been established…”
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Progressive cranial neuropathy and uterine involvement in myeloid sarcoma by Khoo, Anthony, Kimber, Thomas, Cohen, Penelope, Ghaoui, Roula

“…A rare extramedullary manifestation of haematological malignancy, myeloid sarcoma is most commonly seen in patients with acute myeloid leukaemia. We report on…”
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Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone by Marchant, Rhett G., Bryen, Samantha J., Bahlo, Melanie, Cairns, Anita, Chao, Katherine R., Corbett, Alastair, Davis, Mark R., Ganesh, Vijay S., Ghaoui, Roula, Jones, Kristi J., Kornberg, Andrew J., Lek, Monkol, Liang, Christina, MacArthur, Daniel G., Oates, Emily C., O'Donnell‐Luria, Anne, O'Grady, Gina L., Osei‐Owusu, Ikeoluwa A., Rafehi, Haloom, Reddel, Stephen W., Roxburgh, Richard H., Ryan, Monique M., Sandaradura, Sarah A., Scott, Liam W., Valkanas, Elise, Weisburd, Ben, Young, Helen, Evesson, Frances J., Waddell, Leigh B., Cooper, Sandra T.

“…Objective Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA…”
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Movement disorders in mitochondrial disease by Ghaoui, Roula, Sue, Carolyn M.

“…Mitochondrial disease presents with a wide spectrum of clinical manifestations that may appear at any age and cause multisystem dysfunction. A broad spectrum…”
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Segmental Uniparental Isodisomy Causing an "Inside-to-Outside" Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1 by Ghaoui, Roula, Curtis, Samuel, Kassahn, Karin S

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Investigation of hereditary muscle disorders in the genomic era by Ghaoui, Roula, Needham, Merrilee

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Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned by Ghaoui, Roula, Cooper, Sandra T, Lek, Monkol, Jones, Kristi, Corbett, Alastair, Reddel, Stephen W, Needham, Merrilee, Liang, Christina, Waddell, Leigh B, Nicholson, Garth, O'Grady, Gina, Kaur, Simranpreet, Ong, Royston, Davis, Mark, Sue, Carolyn M, Laing, Nigel G, North, Kathryn N, MacArthur, Daniel G, Clarke, Nigel F

“…To our knowledge, the efficacy of transferring next-generation sequencing from a research setting to neuromuscular clinics has never been evaluated. To…”
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Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy by Ghaoui, Roula, Palmio, Johanna, Brewer, Janice, Lek, Monkol, Needham, Merrilee, Evilä, Anni, Hackman, Peter, Jonson, Per-Harald, Penttilä, Sini, Vihola, Anna, Huovinen, Sanna, Lindfors, Mikaela, Davis, Ryan L, Waddell, Leigh, Kaur, Simran, Yiannikas, Con, North, Kathryn, Clarke, Nigel, MacArthur, Daniel G, Sue, Carolyn M, Udd, Bjarne

“…OBJECTIVE:To report novel disease and pathology due to HSPB8 mutations in 2 families with autosomal dominant distal neuromuscular disease showing both…”
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Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly by Bryen, Samantha J., Joshi, Himanshu, Evesson, Frances J., Girard, Cyrille, Ghaoui, Roula, Waddell, Leigh B., Testa, Alison C., Cummings, Beryl, Arbuckle, Susan, Graf, Nicole, Webster, Richard, MacArthur, Daniel G., Laing, Nigel G., Davis, Mark R., Lührmann, Reinhard, Cooper, Sandra T.

“…A precise genetic diagnosis is the single most important step for families with genetic disorders to enable personalized and preventative medicine. In addition…”
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Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis by Ghaoui, Roula, Ha, Thuong T., Kerkhof, Jennifer, McConkey, Haley, Gao, Song, Babic, Milena, King, Rob, Ravenscroft, Gianina, Koszyca, Barbara, Otto, Sophia, Laing, Nigel G., Scott, Hamish, Sadikovic, Bekim, Kassahn, Karin S.

“…•Expanding the phenotype of DNMT3A associated with Tatton-Brown Syndrome (TBRS) to cause a congenital myopathy.•DNMT3A is associated with episodes of…”
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Diagnosis and etiology of congenital muscular dystrophy: We are halfway there by O'Grady, Gina L., Lek, Monkol, Lamande, Shireen R., Waddell, Leigh, Oates, Emily C., Punetha, Jaya, Ghaoui, Roula, Sandaradura, Sarah A., Best, Heather, Kaur, Simranpreet, Davis, Mark, Laing, Nigel G., Muntoni, Francesco, Hoffman, Eric, MacArthur, Daniel G., Clarke, Nigel F., Cooper, Sandra, North, Kathryn

“…Objective To evaluate the diagnostic outcomes in a large cohort of congenital muscular dystrophy (CMD) patients using traditional and next generation…”
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Expanding the phenotype of GMPPB mutations by Cabrera-Serrano, Macarena, Ghaoui, Roula, Ravenscroft, Gianina, Johnsen, Russell D, Davis, Mark R, Corbett, Alastair, Reddel, Stephen, Sue, Carolyn M, Liang, Christina, Waddell, Leigh B, Kaur, Simranpreet, Lek, Monkol, North, Kathryn N, MacArthur, Daniel G, Lamont, Phillipa J, Clarke, Nigel F, Laing, Nigel G

“…Dystroglycanopathies are a heterogeneous group of diseases with a broad phenotypic spectrum ranging from severe disorders with congenital muscle weakness, eye…”
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The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses by Rius, Rocio, Compton, Alison G., Baker, Naomi L., Balasubramaniam, Shanti, Best, Stephanie, Bhattacharya, Kaustuv, Boggs, Kirsten, Boughtwood, Tiffany, Braithwaite, Jeffrey, Bratkovic, Drago, Bray, Alessandra, Brion, Marie-Jo, Burke, Jo, Casauria, Sarah, Chong, Belinda, Coman, David, Cowie, Shannon, Cowley, Mark, de Silva, Michelle G., Delatycki, Martin B., Edwards, Samantha, Ellaway, Carolyn, Fahey, Michael C., Finlay, Keri, Fletcher, Janice, Frajman, Leah E., Frazier, Ann E., Gayevskiy, Velimir, Ghaoui, Roula, Goel, Himanshu, Goranitis, Ilias, Haas, Matilda, Hock, Daniella H., Howting, Denise, Jackson, Matilda R., Kava, Maina P., Kemp, Madonna, King-Smith, Sarah, Lake, Nicole J., Lamont, Phillipa J., Lee, Joy, Long, Janet C., MacShane, Mandi, Madelli, Evanthia O., Martin, Ellenore M., Marum, Justine E., Mattiske, Tessa, McGill, Jim, Metke, Alejandro, Murray, Sean, Panetta, Julie, Phillips, Liza K., Quinn, Michael C.J., Ryan, Michael T., Schenscher, Sarah, Simons, Cas, Smith, Nicholas, Stroud, David A., Tchan, Michel C., Tom, Melanie, Wallis, Mathew, Ware, Tyson L., Welch, AnneMarie E., Wools, Christine, Wu, You, Christodoulou, John, Thorburn, David R.

“…Families living with mitochondrial diseases (MD) often endure prolonged diagnostic journeys and invasive testing, yet many remain without a molecular…”
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