Search Results - "Mein, Rachael"

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period by Sframeli, Maria, Sarkozy, Anna, Bertoli, Marta, Astrea, Guja, Hudson, Judith, Scoto, Mariacristina, Mein, Rachael, Yau, Michael, Phadke, Rahul, Feng, Lucy, Sewry, Caroline, Fen, Adeline Ngoh Seow, Longman, Cheryl, McCullagh, Gary, Straub, Volker, Robb, Stephanie, Manzur, Adnan, Bushby, Kate, Muntoni, Francesco

“…•We report the relative frequency, clinical and genetic spectrum of CMD in the UK.•We describe clinical and molecular data for 249 unrelated CMD…”
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The genetic diversity of cystinuria in a UK population of patients by Wong, Kathie A., Mein, Rachael, Wass, Mark, Flinter, Frances, Pardy, Caroline, Bultitude, Matthew, Thomas, Kay

“…Objective To examine the genetic mutations in the first UK cohort of patients with cystinuria with preliminary genotype/phenotype correlation. Patients and…”
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LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort by Zambon, Alberto A., Ridout, Deborah, Main, Marion, Mein, Rachael, Phadke, Rahul, Muntoni, Francesco, Sarkozy, Anna

“…Objective To characterize natural history of Laminin‐α2 related muscular dystrophies (LAMA2‐RD) to help anticipating complications and identifying reliable…”
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Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy by Godfrey, Caroline, Escolar, Diana, Brockington, Martin, Clement, Emma M., Mein, Rachael, Jimenez-Mallebrera, Cecilia, Torelli, Silvia, Feng, Lucy, Brown, Susan C., Sewry, Caroline A., Rutherford, Mary, Shapira, Yehuda, Abbs, Stephen, Muntoni, Francesco

“…Objective Defects in glycosylation of α‐dystroglycan are associated with several forms of muscular dystrophy, often characterized by congenital onset and…”
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Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials by Silwal, Arpana, Sarkozy, Anna, Scoto, Mariacristina, Ridout, Deborah, Schmidt, Anne, Laverty, Aidan, Henriques, Matilde, D'Argenzio, Luigi, Main, Marion, Mein, Rachael, Manzur, Adnan Y, Abel, Francois, Al‐Ghamdi, Fouad, Genetti, Casie A, Ardicli, Didem, Haliloglu, Goknur, Topaloglu, Haluk, Beggs, Alan H, Muntoni, Francesco

“…Objective To describe clinical features and disease progression of Selenoprotein N‐related myopathy in a large multicenter cohort of patients. Methods…”
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Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations by McVeigh, Terri Patricia, Lalloo, Fiona, Monahan, Kevin J, Latchford, Andrew, Durkie, Miranda, Mein, Rachael, Baple, Emma L, Hanson, Helen

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Long-term Natural History of Pediatric Dominant and Recessive RYR1 -Related Myopathy by Sarkozy, Anna, Sa, Mario, Ridout, Deborah, Fernandez-Garcia, Miguel Angel, Distefano, Maria Grazia, Main, Marion, Sheehan, Jennie, Manzur, Adnan Y, Munot, Pinki, Robb, Stephanie, Wraige, Elizabeth, Quinlivan, Rosaline, Scoto, Mariacristina, Baranello, Giovanni, Gowda, Vasantha, Mein, Rachael, Phadke, Rahul, Jungbluth, Heinz, Muntoni, Francesco

“…-related myopathies are the most common congenital myopathies, but long-term natural history data are still scarce. We aim to describe the natural history of…”
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Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy by Schirwani, Schaida, Sarkozy, Anna, Phadke, Rahul, Childs, Anne-Marie, Mein, Rachael, Ismail, Azzam, Smith, Audrey, Muntoni, Francesco, Hobson, Emma, Pysden, Karen

“…•Second report of TPM2-related recessive phenotype.•A novel homozygous intronic variant, c.564-2A>C, was identified in TPM2 in the patient.•Heterozygous…”
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UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C , RAD51D , BRIP1 and PALB2 by Hanson, Helen, Kulkarni, Anjana, Loong, Lucy, Kavanaugh, Grace, Torr, Bethany, Allen, Sophie, Ahmed, Munaza, Antoniou, Antonis C, Cleaver, Ruth, Dabir, Tabib, Evans, D Gareth, Golightly, Ellen, Jewell, Rosalyn, Kohut, Kelly, Manchanda, Ranjit, Murray, Alex, Murray, Jennie, Ong, Kai-Ren, Rosenthal, Adam N, Woodward, Emma Roisin, Eccles, Diana M, Turnbull, Clare, Tischkowitz, Marc, Lalloo, Fiona

“…Germline pathogenic variants (GPVs) in the cancer predisposition genes , , , , , , , and are identified in approximately 15% of patients with ovarian cancer…”
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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy by Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G W, Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M, Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F, Manchester, David, Boyer, Philip J, Manzur, Adnan Y, Lourenco, Charles Marques, Pilz, Daniela T, Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K, Rogers, R Curtis, Ryan, Monique M, Brown, Natasha J, McLean, Catriona A, Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A, Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz

“…Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical,…”
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Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan by Godfrey, Caroline, Clement, Emma, Mein, Rachael, Brockington, Martin, Smith, Janine, Talim, Beril, Straub, Volker, Robb, Stephanie, Quinlivan, Ros, Feng, Lucy, Jimenez-Mallebrera, Cecilia, Mercuri, Eugenio, Manzur, Adnan Y., Kinali, Maria, Torelli, Silvia, Brown, Susan C., Sewry, Caroline A., Bushby, Kate, Topaloglu, Haluk, North, Kathryn, Abbs, Stephen, Muntoni, Francesco

“…Muscular dystrophies with reduced glycosylation of α-dystroglycan (α-DG), commonly referred to as dystroglycanopathies, are a heterogeneous group of autosomal…”
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Brain involvement in muscular dystrophies with defective dystroglycan glycosylation by Clement, Emma, Mercuri, Eugenio, Godfrey, Caroline, Smith, Janine, Robb, Stephanie, Kinali, Maria, Straub, Volker, Bushby, Kate, Manzur, Adnan, Talim, Beril, Cowan, Frances, Quinlivan, Ros, Klein, Andrea, Longman, Cheryl, McWilliam, Robert, Topaloglu, Haluk, Mein, Rachael, Abbs, Stephen, North, Kathryn, Barkovich, A. James, Rutherford, Mary, Muntoni, Francesco

“…Objective To assess the range and severity of brain involvement, as assessed by magnetic resonance imaging, in 27 patients with mutations in POMT1 (4), POMT2…”
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Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations by Geranmayeh, Fatemeh, Clement, Emma, Feng, Lucy H, Sewry, Caroline, Pagan, Judith, Mein, Rachael, Abbs, Stephen, Brueton, Louise, Childs, Anne-Marie, Jungbluth, Heinz, De Goede, Christian G, Lynch, Bryan, Lin, Jean-Pierre, Chow, Gabriel, Sousa, Carlos de, O’Mahony, Olivia, Majumdar, Anirban, Straub, Volker, Bushby, Katherine, Muntoni, Francesco

“…Abstract Merosin deficient congenital muscular dystrophy 1A (MDC1A) results from mutations in the LAMA2 gene. We report 51 patients with MDC1A and examine the…”
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ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects by Ullmann, Urielle, D'Argenzio, Luigi, Mathur, Shrey, Whyte, Tamieka, Quinlivan, Ros, Longman, Cheryl, Farrugia, Maria Elena, Manzur, Adnan, Willis, Tracey, Jungbluth, Heinz, Pitt, Matthew, Cirak, Sebahattin, Feng, Lucy, Stewart, William, Mein, Rachael, Phadke, Rahul, Sewry, Caroline, Sarkozy, Anna, Muntoni, Francesco

“…•Recessive mutations in the ECEL1 gene cause heterogeneous contractural phenotypes.•We describe 7 novel patients from 4 unrelated families with ECEL1 gene…”
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Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy by Sarkozy, Anna, Torelli, Silvia, Mein, Rachael, Henderson, Matt, Phadke, Rahul, Feng, Lucy, Sewry, Caroline, Ala, Pierpaolo, Yau, Michael, Bertoli, Marta, Willis, Tracey, Hammans, Simon, Manzur, Adnan, Sframeli, Maria, Norwood, Fiona, Rakowicz, Wojtek, Radunovic, Aleksandar, Vaidya, Sujit S, Parton, Matt, Walker, Mark, Marino, Silvia, Offiah, Curtis, Farrugia, Maria Elena, Mamutse, Godwin, Marini-Bettolo, Chiara, Wraige, Elizabeth, Beeson, David, Lochmüller, Hanns, Straub, Volker, Bushby, Kate, Barresi, Rita, Muntoni, Francesco

“…BackgroundDefects in glycosylation of alpha-dystroglycan (α-DG) cause autosomal-recessive disorders with wide clinical and genetic heterogeneity, with…”
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Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene by Turner, Clinton, Mein, Rachael, Sharpe, Cynthia, Love, Donald R

“…Highlights • This paper describes a novel LAMA2 mutation in MDC1A. • In silico analysis suggests the mutation results in a misspliced transcript. • Loss of…”
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A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity by Jimenez-Mallebrera, Cecilia, Torelli, Silvia, Feng, Lucy, Kim, Jihee, Godfrey, Caroline, Clement, Emma, Mein, Rachael, Abbs, Stephen, Brown, Susan C., Campbell, Kevin P., Kröger, Stephan, Talim, Beril, Topaloglu, Haluk, Quinlivan, Ros, Roper, Helen, Childs, Anne M., Kinali, Maria, Sewry, Caroline A., Muntoni, Francesco

“…Hypoglycosylation of α‐dystroglycan underpins a subgroup of muscular dystrophies ranging from congenital onset of weakness, severe brain malformations and…”
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Autopsy findings in EPG5‐related Vici syndrome with antenatal onset by Touraine, Renaud, Laquerrière, Annie, Petcu, Carmen‐Adina, Marguet, Florent, Byrne, Susan, Mein, Rachael, Yau, Shu, Mohammed, Shehla, Guibaud, Laurent, Gautel, Mathias, Jungbluth, Heinz

“…Vici syndrome is one of the most extensive inherited human multisystem disorders and due to recessive mutations in EPG5 encoding a key autophagy regulator with…”
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RYR1 -related malignant hyperthermia with marked cerebellar involvement – A paradigm of heat-induced CNS injury? by Forrest, Katharine M.L, Foulds, Nicola, Millar, John S, Sutherland, Paul D, Pappachan, V. John, Holden, Samantha, Mein, Rachael, Hopkins, Philip M, Jungbluth, Heinz

“…Highlights • Fatal brain injury in malignant hyperthermia due to RYR1 mutations gene has not previously been reported. • Marked cerebellar involvement is a…”
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Congenital muscular dystrophies in the UK population: clinical and molecular spectrum of a large cohort diagnosed over a 12-years period by Sframeli, Maria, Sarkozy, Anna, Bertoli, Marta, Astrea, Guja, Hudson, Judith, Scoto, Mariacristina, Mein, Rachael, Yau, Michael, Phadke, Rahul, Feng, Lucy, Sewry, Caroline, Fen, Adeline Ngoh Seow, Longman, Cheryl, McCullagh, Gary, Straub, Volker, Robb, Stephanie, Manzur, Adnan, Bushby, Kate, Muntoni, Francesco

“…Highlights • We report the relative frequency, clinical and genetic spectrum of CMD in the UK • We describe clinical and molecular data for 249 unrelated CMD…”
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