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1. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Author

Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, and Ravenscroft, Gianina

Published
2024
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2. Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Author

Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, and Ravenscroft, Gianina

Published
2024
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3. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Author

Kim, Hong Joo, Mohassel, Payam, Donkervoort, Sandra, Guo, Lin, O’Donovan, Kevin, Coughlin, Maura, Lornage, Xaviere, Foulds, Nicola, Hammans, Simon R., Foley, A. Reghan, Fare, Charlotte M., Ford, Alice F., Ogasawara, Masashi, Sato, Aki, Iida, Aritoshi, Munot, Pinki, Ambegaonkar, Gautam, Phadke, Rahul, O’Donovan, Dominic G., Buchert, Rebecca, Grimmel, Mona, Töpf, Ana, Zaharieva, Irina T., Brady, Lauren, Hu, Ying, Lloyd, Thomas E., Klein, Andrea, Steinlin, Maja, Kuster, Alice, Mercier, Sandra, Marcorelles, Pascale, Péréon, Yann, Fleurence, Emmanuelle, Manzur, Adnan, Ennis, Sarah, Upstill-Goddard, Rosanna, Bello, Luca, Bertolin, Cinzia, Pegoraro, Elena, Salviati, Leonardo, French, Courtney E., Shatillo, Andriy, Raymond, F. Lucy, Haack, Tobias B., Quijano-Roy, Susana, Böhm, Johann, Nelson, Isabelle, Stojkovic, Tanya, Evangelista, Teresinha, Straub, Volker, Romero, Norma B., Laporte, Jocelyn, Muntoni, Francesco, Nishino, Ichizo, Tarnopolsky, Mark A., Shorter, James, Bönnemann, Carsten G., and Taylor, J. Paul

Published
2022
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5. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

Author

Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Deforie, Valentina Galassi, Fernández-Eulate, Gorka, Traschütz, Andreas, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, group, RFC1 repeat expansion study, and Schnekenberg, Ricardo Parolin

Subjects
AGE of onset, SOUTHERN blot, CEREBELLAR cortex, CEREBELLAR ataxia, FRONTAL lobe
Abstract

RFC1 disease, caused by biallelic repeat expansion in RFC1 , is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat. In this study, we identified 553 patients carrying biallelic RFC1 expansions and measured the repeat expansion size in 392 cases. Pearson's coefficient was calculated to assess the correlation between the repeat size and age at disease onset. A Cox model with robust cluster standard errors was adopted to describe the effect of repeat size on age at disease onset, on age at onset of each individual symptoms, and on disease progression. A quasi-Poisson regression model was used to analyse the relationship between phenotype and repeat size. We performed multivariate linear regression to assess the association of the repeat size with the degree of cerebellar atrophy. Meiotic stability was assessed by Southern blotting on first-degree relatives of 27 probands. Finally, somatic instability was investigated by optical genome mapping on cerebellar and frontal cortex and unaffected peripheral tissue from four post-mortem cases. A larger repeat size of both smaller and larger allele was associated with an earlier age at neurological onset [smaller allele hazard ratio (HR) = 2.06, P < 0.001; larger allele HR = 1.53, P < 0.001] and with a higher hazard of developing disabling symptoms, such as dysarthria or dysphagia (smaller allele HR = 3.40, P < 0.001; larger allele HR = 1.71, P = 0.002) or loss of independent walking (smaller allele HR = 2.78, P < 0.001; larger allele HR = 1.60; P < 0.001) earlier in disease course. Patients with more complex phenotypes carried larger expansions [smaller allele: complex neuropathy rate ratio (RR) = 1.30, P = 0.003; cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) RR = 1.34, P < 0.001; larger allele: complex neuropathy RR = 1.33, P = 0.008; CANVAS RR = 1.31, P = 0.009]. Furthermore, larger repeat expansions in the smaller allele were associated with more pronounced cerebellar vermis atrophy (lobules I–V β = −1.06, P < 0.001; lobules VI–VII β = −0.34, P = 0.005). The repeat did not show significant instability during vertical transmission and across different tissues and brain regions. RFC1 repeat size, particularly of the smaller allele, is one of the determinants of variability in RFC1 disease and represents a key prognostic factor to predict disease onset, phenotype and severity. Assessing the repeat size is warranted as part of the diagnostic test for RFC1 expansion. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Author

Wai, Htoo A, Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G, Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N Simon, Bunyan, David J, Douglas, Andrew G L, Baralle, Diana, Naik, Swati, Ragge, Nicola, Cox, Helen, Morton, Jenny E., O'Driscoll, Mary, Lim, Derek, Osio, Deborah, Elmslie, Frances, Huber, Camilla, Hewitt, Julie, Brandon, Heidy, McEntagart, Meriel, Mansour, Sahar, Lahiri, Nayana, Dempsey, Esther, Manalo, Merrie, Homfray, Tessa, Saggar, Anand, Li, Jin, Barwell, Julian, Chandler, Kate E., Briggs, Tracy, Douzgou, Sofia, Adlard, Julian, Kraus, Alison, Mehta, Sarju, Watford, Amy, Donaldson, Alan, Low, Karen, Jones, Gabriela, Dixit, Abhijit, King, Elizabeth, Shannon, Nora, Kaliakatsos, Marios, Joss, Shelagh, Balasubramanian, Meena, Johnson, Diana, Everest, Sarah, Salter, Claire, Harrison, Victoria, Wise, Gillian, Torokwa, Audrey, Sands, Victoria, Pyle, Esther, Thomas, Tessy, Lachlan, Katherine, Foulds, Nicola, Lotery, Andrew, Hammans, Simon R., Pond, Emily, Horton, Rachel, Kharbanda, Mira, Hunt, David, Thomas, Charlene, Side, Lucy, Willis, Catherine, Greville-Heygate, Stephanie, Mawby, Rebecca, Mercer, Catherine, Temple, Karen, Kinning, Esther, Bojovic, Ognjen, and Archer, L.

Subjects
RNA splicing, RNA Splicing, RNA-Seq, RNA/genetics, Computational biology, Biology, exons, Article, genetic diagnosis, 03 medical and health sciences, symbols.namesake, computational biology, splice, humans, Genetics (clinical), 030304 developmental biology, Sanger sequencing, 0303 health sciences, variant interpretation, 030305 genetics & heredity, RNA, Exon skipping, Reverse transcription polymerase chain reaction, genomic medicine, Agarose gel electrophoresis, symbols, mutation, RNA-seq
Abstract

Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing. Many such variants may disrupt normal RNA splicing. We examined effects on splicing of a large cohort of clinically identified variants and compared performance of bioinformatic splicing prediction tools commonly used in diagnostic laboratories. Two hundred fifty-seven variants (coding and noncoding) were referred for analysis across three laboratories. Blood RNA samples underwent targeted reverse transcription polymerase chain reaction (RT-PCR) analysis with Sanger sequencing of PCR products and agarose gel electrophoresis. Seventeen samples also underwent transcriptome-wide RNA sequencing with targeted splicing analysis based on Sashimi plot visualization. Bioinformatic splicing predictions were obtained using Alamut, HSF 3.1, and SpliceAI software. Eighty-five variants (33%) were associated with abnormal splicing. The most frequent abnormality was upstream exon skipping (39/85 variants), which was most often associated with splice donor region variants. SpliceAI had greatest accuracy in predicting splicing abnormalities (0.91) and outperformed other tools in sensitivity and specificity. Splicing analysis of blood RNA identifies diagnostically important splicing abnormalities and clarifies functional effects of a significant proportion of VUSs. Bioinformatic predictions are improving but still make significant errors. RNA analysis should therefore be routinely considered in genetic disease diagnostics.

Published
2020
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11. NATURAL HISTORY STUDY OF SORD NEUROPATHY

Author

Cortese, Andrea, Dohrn, Maike, Curro, Riccardo, Seeman, Pavel, Stojkovic, Tanya, Hammans, Simon, Previtali, Stefano, Bolino, Alessandra, Schenone, Angelo, Kennerson, Marina, Rojas-Garcia, Ricardo, Sevilla, Teresa, Hahn, Katrin, Claeys, Kristl, Brunkhorst, Robert, Cavalcanti, Francesca, Manganelli, Fiore, Zhang, Ruxu, Houlden, Henry, Scherer, Steven, Herrmann, David, Pareyson, Davide, Reilly, Mary, Shy, Michael, and Zuchner, Stephan

Published
2022

12. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Author

Halter, Joerg P., Michael, W., Schüpbach, M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Pinto Simoes, Belinda, Hammans, Simon R., Savage, David, Martí, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, and Hirano, Michio

Published
2015
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15. Genotype–phenotype analysis in patients with giant axonal neuropathy (GAN)

Author

Koop, Olga, Schirmacher, Anja, Nelis, Eva, Timmerman, Vincent, Jonghe, Peter De, Ringelstein, Bernd, Rasic, Vedrana Milic, Evrard, Philippe, Gärtner, Jutta, Claeys, Kristl G., Appenzeller, Silke, Rautenstrauss, Bernd, Hühne, Kathrin, Ramos-Arroyo, Maria A., Wörle, Helmut, Moilanen, Jukka S., Hammans, Simon, and Kuhlenbäumer, Gregor

Published
2007
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17. Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Author

Kim, Hong Joo, primary, Mohassel, Payam, additional, Donkervoort, Sandra, additional, Guo, Lin, additional, O’Donovan, Kevin, additional, Coughlin, Maura, additional, Lornage, Xaviere, additional, Foulds, Nicola, additional, Hammans, Simon R., additional, Foley, A. Reghan, additional, Fare, Charlotte M., additional, Ford, Alice F., additional, Ogasawara, Masashi, additional, Sato, Aki, additional, Iida, Aritoshi, additional, Munot, Pinki, additional, Ambegaonkar, Gautam, additional, Phadke, Rahul, additional, O’Donovan, Dominic G, additional, Buchert, Rebecca, additional, Grimmel, Mona, additional, Töpf, Ana, additional, Zaharieva, Irina T., additional, Brady, Lauren, additional, Hu, Ying, additional, Lloyd, Thomas E., additional, Klein, Andrea, additional, Steinlin, Maja, additional, Kuster, Alice, additional, Mercier, Sandra, additional, Marcorelles, Pascale, additional, Péréon, Yann, additional, Fleurence, Emmanuelle, additional, Manzur, Adnan, additional, Ennis, Sarah, additional, Upstill-Goddard, Rosanna, additional, Bello, Luca, additional, Bertolin, Cinzia, additional, Pegoraro, Elena, additional, Salviati, Leonardo, additional, French, Courtney E., additional, Shatillo, Andriy, additional, Raymond, F Lucy, additional, Haack, Tobias, additional, Quijano-Roy, Susana, additional, Böhm, Johann, additional, Nelson, Isabelle, additional, Stojkovic, Tanya, additional, Evangelista, Teresinha, additional, Straub, Volker, additional, Romero, Norma B., additional, Laporte, Jocelyn, additional, Muntoni, Francesco, additional, Nishino, Ichizo, additional, Tarnopolsky, Mark A., additional, Shorter, James, additional, Taylor, J. Paul, additional, and Bönnemann, Carsten G., additional

Published
2021
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19. Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Author

Blakely, Emma L., Yarham, John W., Alston, Charlotte L., Craig, Kate, Poulton, Joanna, Brierley, Charlotte, Park, Soo-Mi, Dean, Andrew, Xuereb, John H., Anderson, Kirstie N., Compston, Alistair, Allen, Chris, Sharif, Saba, Enevoldson, Peter, Wilson, Martin, Hammans, Simon R., Turnbull, Douglass M., McFarland, Robert, and Taylor, Robert W.

Published
2013
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20. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

Author

Sarkozy, Anna, Hicks, Debbie, Hudson, Judith, Laval, Steve H., Barresi, Rita, Hilton-Jones, David, Deschauer, Marcus, Harris, Elizabeth, Rufibach, Laura, Hwang, Esther, Bashir, Rumaisa, Walter, Maggie C., Krause, Sabine, van den Bergh, Peter, Illa, Isabel, Pénisson-Besnier, Isabelle, De Waele, Liesbeth, Turnbull, Doug, Guglieri, Michela, Schrank, Bertold, Schoser, Benedikt, Seeger, Jürgen, Schreiber, Herbert, Gläser, Dieter, Eagle, Michelle, Bailey, Geraldine, Walters, Richard, Longman, Cheryl, Norwood, Fiona, Winer, John, Muntoni, Francesco, Hanna, Michael, Roberts, Mark, Bindoff, Laurence A., Brierley, Charlotte, Cooper, Robert G., Cottrell, David A., Davies, Nick P., Gibson, Andrew, Gorman, Gráinne S., Hammans, Simon, Jackson, Andrew P., Khan, Aijaz, Lane, Russell, McConville, John, McEntagart, Meriel, Al-Memar, Ali, Nixon, John, Panicker, Jay, Parton, Matt, Petty, Richard, Price, Christopher J., Rakowicz, Wojtek, Ray, Partha, Schapira, Anthony H., Swingler, Robert, Turner, Chris, Wagner, Kathryn R., Maddison, Paul, Shaw, Pamela J., Straub, Volker, Bushby, Kate, and Lochmüller, Hanns

Published
2013
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27. Preface

Author

Warner, Thomas T., primary and Hammans, Simon R., additional

Published
2009
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28. Contributors

Author

Carr, Lucinda, primary, Downes, Susan M., additional, Eccles, Diana M., additional, Hammans, Simon R., additional, Nemeth, Andrea H., additional, and Warner, Thomas T., additional

Published
2009
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34. Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE).

Author

Hammans, Simon R.

Subjects
*BRAIN diseases, *DEMYELINATION, *DNA damage, *GASTROINTESTINAL diseases, *TRANSFERASES, *CHRONIC progressive external opthalmoplegia, *MITOCHONDRIAL neurogastrointestinal encephalopathy syndrome
Abstract

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive condition. Deficiency of thymidine phosphorylase disrupts the nucleoside pool, with progressive secondary mitochondrial DNA damage. MNGIE is clinically diagnosable because of a distinctive tetrad of gastrointestinal dysmotility, progressive external ophthalmoplegia, demyelinating neuropathy and asymptomatic leucoencephalopathy. The diagnosis may be confirmed genetically or biochemically. Misdiagnosis is frequent, but early and accurate recognition allows the possibility of novel transplant therapies capable of rectifying the biochemical defects. Itsmanagement remains difficult in the face of progressive disability and the risks of treatment. [ABSTRACT FROM AUTHOR]

Published
2021
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35. Mobility shift of beta-dystroglycan as a marker ofGMPPBgene-related muscular dystrophy

Author

Sarkozy, Anna, primary, Torelli, Silvia, additional, Mein, Rachael, additional, Henderson, Matt, additional, Phadke, Rahul, additional, Feng, Lucy, additional, Sewry, Caroline, additional, Ala, Pierpaolo, additional, Yau, Michael, additional, Bertoli, Marta, additional, Willis, Tracey, additional, Hammans, Simon, additional, Manzur, Adnan, additional, Sframeli, Maria, additional, Norwood, Fiona, additional, Rakowicz, Wojtek, additional, Radunovic, Aleksandar, additional, Vaidya, Sujit S, additional, Parton, Matt, additional, Walker, Mark, additional, Marino, Silvia, additional, Offiah, Curtis, additional, Farrugia, Maria Elena, additional, Mamutse, Godwin, additional, Marini-Bettolo, Chiara, additional, Wraige, Elizabeth, additional, Beeson, David, additional, Lochmüller, Hanns, additional, Straub, Volker, additional, Bushby, Kate, additional, Barresi, Rita, additional, and Muntoni, Francesco, additional

Published
2018
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37. Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy

Author

Morís, Germán, primary, Wood, Libby, additional, FernáNdez-Torrón, Roberto, additional, González Coraspe, José Andrés, additional, Turner, Chris, additional, Hilton-Jones, David, additional, Norwood, Fiona, additional, Willis, Tracey, additional, Parton, Matt, additional, Rogers, Mark, additional, Hammans, Simon, additional, Roberts, Mark, additional, Househam, Elizabeth, additional, Williams, Maggie, additional, Lochmüller, Hanns, additional, and Evangelista, Teresinha, additional

Published
2017
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38. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Author

Halter, Joerg P., Michael, W., Schüpbach, M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Pinto Simoes, Belinda, Hammans, Simon R., Savage, David, Martí, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, Hirano, Michio, Halter, Joerg P., Michael, W., Schüpbach, M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Pinto Simoes, Belinda, Hammans, Simon R., Savage, David, Martí, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, and Hirano, Michio

Abstract

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare fatal autorecessive disease. Halter et al. report outcomes from all known haematopoietic stem cell transplantations worldwide from sibling or unrelated donors for MNGIE between 2005 and 2011. In some of the recipients, correction of the underlying metabolic defect results in gradual clinical improvement

Published
2017

39. Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

Author

Lynch, David S., primary, Zhang, Wei Jia, additional, Lakshmanan, Rahul, additional, Kinsella, Justin A., additional, Uzun, Günes Altiokka, additional, Karbay, Merih, additional, Tüfekçioglu, Zeynep, additional, Hanagasi, Hasmet, additional, Burke, Georgina, additional, Foulds, Nicola, additional, Hammans, Simon R., additional, Bhattacharjee, Anupam, additional, Wilson, Heather, additional, Adams, Matthew, additional, Walker, Mark, additional, Nicoll, James A. R., additional, Chataway, Jeremy, additional, Fox, Nick, additional, Davagnanam, Indran, additional, Phadke, Rahul, additional, and Houlden, Henry, additional

Published
2016
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40. Mobility shift of beta-dystroglycan as a marker of gene-related muscular dystrophy.

Author

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, and Walker, Mark

Subjects
DYSTROGLYCAN, GENES, GLYCOSYLATION, CONGENITAL disorders, MUSCULAR dystrophy
Abstract

Background: Defects in glycosylation of alpha-dystroglycan (α-DG) cause autosomal-recessive disorders with wide clinical and genetic heterogeneity, with phenotypes ranging from congenital muscular dystrophies to milder limb girdle muscular dystrophies. Patients show variable reduction of immunoreactivity to antibodies specific for glycoepitopes of α-DG on a muscle biopsy. Recessive mutations in 18 genes, including guanosine diphosphate mannose pyrophosphorylase B (GMPPB), have been reported to date. With no specific clinical and pathological handles, diagnosis requires parallel or sequential analysis of all known genes.Methods: We describe clinical, genetic and biochemical findings of 21 patients with GMPPB-associated dystroglycanopathy.Results: We report eight novel mutations and further expand current knowledge on clinical and muscle MRI features of this condition. In addition, we report a consistent shift in the mobility of beta-dystroglycan (β-DG) on Western blot analysis of all patients analysed by this mean. This was only observed in patients with GMPPB in our large dystroglycanopathy cohort. We further demonstrate that this mobility shift in patients with GMPPB was due to abnormal N-linked glycosylation of β-DG.Conclusions: Our data demonstrate that a change in β-DG electrophoretic mobility in patients with dystroglycanopathy is a distinctive marker of the molecular defect in GMPPB. [ABSTRACT FROM AUTHOR]

Published
2018
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41. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Author

CTI Nierkens, Regenerative Medicine and Stem Cells, Child Health, Infection & Immunity, Halter, Joerg P., Schuepbach, W. Michael M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Simoes, Belinda Pinto, Hammans, Simon R., Savage, David, Marti, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, Hirano, Michio, CTI Nierkens, Regenerative Medicine and Stem Cells, Child Health, Infection & Immunity, Halter, Joerg P., Schuepbach, W. Michael M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Simoes, Belinda Pinto, Hammans, Simon R., Savage, David, Marti, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, and Hirano, Michio

Published
2015

44. Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

Author

Tajsharghi, Homa, Hammans, Simon, Lindberg, Christopher, Lossos, Alexander, Clarke, Nigel F., Mazanti, Ingrid, Waddell, Leigh B., Fellig, Yakov, Foulds, Nicola, Katifi, Haider, Webster, Richard, Raheem, Olayinka, Udd, Bjarne, Argov, Zohar, Oldfors, Anders, Tajsharghi, Homa, Hammans, Simon, Lindberg, Christopher, Lossos, Alexander, Clarke, Nigel F., Mazanti, Ingrid, Waddell, Leigh B., Fellig, Yakov, Foulds, Nicola, Katifi, Haider, Webster, Richard, Raheem, Olayinka, Udd, Bjarne, Argov, Zohar, and Oldfors, Anders

Abstract

Myosin myopathies comprise a group of inherited diseases caused by mutations in myosin heavy chain (MyHC) genes. Homozygous or compound heterozygous truncating MYH2 mutations have been demonstrated to cause recessive myopathy with ophthalmoplegia, mild-to-moderate muscle weakness and complete lack of type 2A muscle fibers. In this study, we describe for the first time the clinical and morphological characteristics of recessive myosin IIa myopathy associated with MYH2 missense mutations. Seven patients of five different families with a myopathy characterized by ophthalmoplegia and mild-to-moderate muscle weakness were investigated. Muscle biopsy was performed to study morphological changes and MyHC isoform expression. Five of the patients were homozygous for MYH2 missense mutations, one patient was compound heterozygous for a missense and a nonsense mutation and one patient was homozygous for a frame-shift MYH2 mutation. Muscle biopsy demonstrated small or absent type 2A muscle fibers and reduced or absent expression of the corresponding MyHC IIa transcript and protein. We conclude that mild muscle weakness and ophthalmoplegia in combination with muscle biopsy demonstrating small or absent type 2A muscle fibers are the hallmark of recessive myopathy associated with MYH2 mutations.

Published
2014
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45. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Author

UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Sarkozy, Anna, Hicks, Debbie, Hudson, Judith, Laval, Steve H, Barresi, Rita, Hilton-Jones, David, Deschauer, Marcus, Harris, Elizabeth, Rufibach, Laura, Hwang, Esther, Bashir, Rumaisa, Walter, Maggie C, Krause, Sabine, Van den Bergh, Peter, Illa, Isabel, Pénisson-Besnier, Isabelle, De Waele, Liesbeth, Turnbull, Doug, Guglieri, Michela, Schrank, Bertold, Schoser, Benedikt, Seeger, Jürgen, Schreiber, Herbert, Gläser, Dieter, Eagle, Michelle, Bailey, Geraldine, Walters, Richard, Longman, Cheryl, Norwood, Fiona, Winer, John, Muntoni, Francesco, Hanna, Michael, Roberts, Mark, Bindoff, Laurence A, Brierley, Charlotte, Cooper, Robert G, Cottrell, David A, Davies, Nick P, Gibson, Andrew, Gorman, Gráinne S, Hammans, Simon, Jackson, Andrew P, Khan, Aijaz, Lane, Russell, McConville, John, McEntagart, Meriel, Al-Memar, Ali, Nixon, John, Panicker, Jay, Parton, Matt, Petty, Richard, Price, Christopher J, Rakowicz, Wojtek, Ray, Partha, Schapira, Anthony H, Swingler, Robert, Turner, Chris, Wagner, Kathryn R, Maddison, Paul, Shaw, Pamela J, Straub, Volker, Bushby, Kate, Lochmüller, Hanns, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Sarkozy, Anna, Hicks, Debbie, Hudson, Judith, Laval, Steve H, Barresi, Rita, Hilton-Jones, David, Deschauer, Marcus, Harris, Elizabeth, Rufibach, Laura, Hwang, Esther, Bashir, Rumaisa, Walter, Maggie C, Krause, Sabine, Van den Bergh, Peter, Illa, Isabel, Pénisson-Besnier, Isabelle, De Waele, Liesbeth, Turnbull, Doug, Guglieri, Michela, Schrank, Bertold, Schoser, Benedikt, Seeger, Jürgen, Schreiber, Herbert, Gläser, Dieter, Eagle, Michelle, Bailey, Geraldine, Walters, Richard, Longman, Cheryl, Norwood, Fiona, Winer, John, Muntoni, Francesco, Hanna, Michael, Roberts, Mark, Bindoff, Laurence A, Brierley, Charlotte, Cooper, Robert G, Cottrell, David A, Davies, Nick P, Gibson, Andrew, Gorman, Gráinne S, Hammans, Simon, Jackson, Andrew P, Khan, Aijaz, Lane, Russell, McConville, John, McEntagart, Meriel, Al-Memar, Ali, Nixon, John, Panicker, Jay, Parton, Matt, Petty, Richard, Price, Christopher J, Rakowicz, Wojtek, Ray, Partha, Schapira, Anthony H, Swingler, Robert, Turner, Chris, Wagner, Kathryn R, Maddison, Paul, Shaw, Pamela J, Straub, Volker, Bushby, Kate, and Lochmüller, Hanns

Abstract

Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German LGMD2L patients so far reported. We aimed to further investigate the prevalence and spectrum of ANO5 gene mutations and related clinical phenotypes, by screening 205 undiagnosed patients referred to our molecular service with a clinical suspicion of anoctaminopathy. A total of 42 unrelated patients had two ANO5 mutations (21%), whereas 14 carried a single change. We identified 34 pathogenic changes, 15 of which are novel. The c.191dupA mutation represents 61% of mutated alleles and appears to be less prevalent in non-Northern European populations. Retrospective clinical analysis corroborates the prevalently proximal lower limb phenotype, the male predominance and absence of major cardiac or respiratory involvement. Identification of cases with isolated hyperCKaemia and very late symptomatic male and female subjects confirms the extension of the phenotypic spectrum of the disease. Anoctaminopathy appears to be one of the most common adult muscular dystrophies in Northern Europe, with a prevalence of about 20%-25% in unselected undiagnosed cases.

Published
2013

46. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Author

Anderson, Beverley H., Kasher, Paul R., Mayer, Josephine, Szynkiewicz, Marcin, Jenkinson, Emma M., Bhaskar, Sanjeev S., Urquhart, Jill E., Daly, Sarah B., Dickerson, Jonathan E., O'Sullivan, James, Leibundgut, Elisabeth Oppliger, Muter, Joanne, Abdel-Salem, Ghada M. H., Babul-Hirji, Riyana, Baxter, Peter, Berger, Andrea, Bonafe, Luisa, Brunstom-Hernandez, Janice E., Buckard, Johannes A., Chitayat, David, Chong, Wui K., Cordelli, Duccio M., Ferreira, Patrick, Fluss, Joel, Forrest, Ewan H., Franzoni, Emilio, Garone, Caterina, Hammans, Simon R., Houge, Gunnar, Hughes, Imelda, Jacquemont, Sebastien, Jeannet, Pierre-Yves, Jefferson, Rosalind J., Kumar, Ram, Kutschke, Georg, Lundberg, Staffan, Lourenco, Charles M., Mehta, Ramesh, Naidu, Sakkubai, Nischal, Ken K., Nunes, Luis, Ounap, Katrin, Philippart, Michel, Prabhakar, Prab, Risen, Sarah R., Schiffmann, Raphael, Soh, Calvin, Stephenson, John B. P., Stewart, Helen, Stone, Jon, Tolmie, John L., van der Knaap, Marjo S., Vieira, Jose P., Vilain, Catheline N., Wakeling, Emma L., Wermenbol, Vanessa, Whitney, Andrea, Lovell, Simon C., Meyer, Stefan, Livingston, John H., Baerlocher, Gabriela M., Black, Graeme C. M., Rice, Gillian I., Crow, Yanick J., Anderson, Beverley H., Kasher, Paul R., Mayer, Josephine, Szynkiewicz, Marcin, Jenkinson, Emma M., Bhaskar, Sanjeev S., Urquhart, Jill E., Daly, Sarah B., Dickerson, Jonathan E., O'Sullivan, James, Leibundgut, Elisabeth Oppliger, Muter, Joanne, Abdel-Salem, Ghada M. H., Babul-Hirji, Riyana, Baxter, Peter, Berger, Andrea, Bonafe, Luisa, Brunstom-Hernandez, Janice E., Buckard, Johannes A., Chitayat, David, Chong, Wui K., Cordelli, Duccio M., Ferreira, Patrick, Fluss, Joel, Forrest, Ewan H., Franzoni, Emilio, Garone, Caterina, Hammans, Simon R., Houge, Gunnar, Hughes, Imelda, Jacquemont, Sebastien, Jeannet, Pierre-Yves, Jefferson, Rosalind J., Kumar, Ram, Kutschke, Georg, Lundberg, Staffan, Lourenco, Charles M., Mehta, Ramesh, Naidu, Sakkubai, Nischal, Ken K., Nunes, Luis, Ounap, Katrin, Philippart, Michel, Prabhakar, Prab, Risen, Sarah R., Schiffmann, Raphael, Soh, Calvin, Stephenson, John B. P., Stewart, Helen, Stone, Jon, Tolmie, John L., van der Knaap, Marjo S., Vieira, Jose P., Vilain, Catheline N., Wakeling, Emma L., Wermenbol, Vanessa, Whitney, Andrea, Lovell, Simon C., Meyer, Stefan, Livingston, John H., Baerlocher, Gabriela M., Black, Graeme C. M., Rice, Gillian I., and Crow, Yanick J.

Abstract

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.

Published
2012
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47. Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

Author

Tajsharghi, Homa, primary, Hammans, Simon, additional, Lindberg, Christopher, additional, Lossos, Alexander, additional, Clarke, Nigel F, additional, Mazanti, Ingrid, additional, Waddell, Leigh B, additional, Fellig, Yakov, additional, Foulds, Nicola, additional, Katifi, Haider, additional, Webster, Richard, additional, Raheem, Olayinka, additional, Udd, Bjarne, additional, Argov, Zohar, additional, and Oldfors, Anders, additional

Published
2013
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48. Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Author

Blakely, Emma L., primary, Yarham, John W., additional, Alston, Charlotte L., additional, Craig, Kate, additional, Poulton, Joanna, additional, Brierley, Charlotte, additional, Park, Soo‐Mi, additional, Dean, Andrew, additional, Xuereb, John H., additional, Anderson, Kirstie N., additional, Compston, Alistair, additional, Allen, Chris, additional, Sharif, Saba, additional, Enevoldson, Peter, additional, Wilson, Martin, additional, Hammans, Simon R., additional, Turnbull, Douglass M., additional, McFarland, Robert, additional, and Taylor, Robert W., additional

Published
2013
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49. ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

Author

Sarkozy, Anna, primary, Hicks, Debbie, additional, Hudson, Judith, additional, Laval, Steve H., additional, Barresi, Rita, additional, Hilton-Jones, David, additional, Deschauer, Marcus, additional, Harris, Elizabeth, additional, Rufibach, Laura, additional, Hwang, Esther, additional, Bashir, Rumaisa, additional, Walter, Maggie C., additional, Krause, Sabine, additional, van den Bergh, Peter, additional, Illa, Isabel, additional, Pénisson-Besnier, Isabelle, additional, De Waele, Liesbeth, additional, Turnbull, Doug, additional, Guglieri, Michela, additional, Schrank, Bertold, additional, Schoser, Benedikt, additional, Seeger, Jürgen, additional, Schreiber, Herbert, additional, Gläser, Dieter, additional, Eagle, Michelle, additional, Bailey, Geraldine, additional, Walters, Richard, additional, Longman, Cheryl, additional, Norwood, Fiona, additional, Winer, John, additional, Muntoni, Francesco, additional, Hanna, Michael, additional, Roberts, Mark, additional, Bindoff, Laurence A., additional, Brierley, Charlotte, additional, Cooper, Robert G., additional, Cottrell, David A., additional, Davies, Nick P., additional, Gibson, Andrew, additional, Gorman, Gráinne S., additional, Hammans, Simon, additional, Jackson, Andrew P., additional, Khan, Aijaz, additional, Lane, Russell, additional, McConville, John, additional, McEntagart, Meriel, additional, Al-Memar, Ali, additional, Nixon, John, additional, Panicker, Jay, additional, Parton, Matt, additional, Petty, Richard, additional, Price, Christopher J., additional, Rakowicz, Wojtek, additional, Ray, Partha, additional, Schapira, Anthony H., additional, Swingler, Robert, additional, Turner, Chris, additional, Wagner, Kathryn R., additional, Maddison, Paul, additional, Shaw, Pamela J., additional, Straub, Volker, additional, Bushby, Kate, additional, and Lochmüller, Hanns, additional

Published
2013
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50. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Author

Anderson, Beverley H, primary, Kasher, Paul R, additional, Mayer, Josephine, additional, Szynkiewicz, Marcin, additional, Jenkinson, Emma M, additional, Bhaskar, Sanjeev S, additional, Urquhart, Jill E, additional, Daly, Sarah B, additional, Dickerson, Jonathan E, additional, O'Sullivan, James, additional, Leibundgut, Elisabeth Oppliger, additional, Muter, Joanne, additional, Abdel-Salem, Ghada M H, additional, Babul-Hirji, Riyana, additional, Baxter, Peter, additional, Berger, Andrea, additional, Bonafé, Luisa, additional, Brunstom-Hernandez, Janice E, additional, Buckard, Johannes A, additional, Chitayat, David, additional, Chong, Wui K, additional, Cordelli, Duccio M, additional, Ferreira, Patrick, additional, Fluss, Joel, additional, Forrest, Ewan H, additional, Franzoni, Emilio, additional, Garone, Caterina, additional, Hammans, Simon R, additional, Houge, Gunnar, additional, Hughes, Imelda, additional, Jacquemont, Sebastien, additional, Jeannet, Pierre-Yves, additional, Jefferson, Rosalind J, additional, Kumar, Ram, additional, Kutschke, Georg, additional, Lundberg, Staffan, additional, Lourenço, Charles M, additional, Mehta, Ramesh, additional, Naidu, Sakkubai, additional, Nischal, Ken K, additional, Nunes, Luís, additional, Õunap, Katrin, additional, Philippart, Michel, additional, Prabhakar, Prab, additional, Risen, Sarah R, additional, Schiffmann, Raphael, additional, Soh, Calvin, additional, Stephenson, John B P, additional, Stewart, Helen, additional, Stone, Jon, additional, Tolmie, John L, additional, van der Knaap, Marjo S, additional, Vieira, Jose P, additional, Vilain, Catheline N, additional, Wakeling, Emma L, additional, Wermenbol, Vanessa, additional, Whitney, Andrea, additional, Lovell, Simon C, additional, Meyer, Stefan, additional, Livingston, John H, additional, Baerlocher, Gabriela M, additional, Black, Graeme C M, additional, Rice, Gillian I, additional, and Crow, Yanick J, additional

Published
2012
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