Changes in Spirometry Over Time as a Prognostic Marker in Patients with Duchenne Muscular Dystrophy von PHILLIPS, MARGARET F, QUINLIVAN, ROSALINE C. M, EDWARDS, RICHARD H. T, CALVERLEY, PETER M. A

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report von Smedley, Damian, Smith, Katherine R, Martin, Antonio, Thomas, Ellen A, McDonagh, Ellen M, Cipriani, Valentina, Ellingford, Jamie M, Arno, Gavin, Tucci, Arianna, Vandrovcova, Jana, Chan, Georgia, Williams, Hywel J, Ratnaike, Thiloka, Wei, Wei, Stirrups, Kathleen, Ibanez, Kristina, Moutsianas, Loukas, Wielscher, Matthias, Need, Anna, Barnes, Michael R, Vestito, Letizia, Buchanan, James, Wordsworth, Sarah, Ashford, Sofie, Rehmström, Karola, Li, Emily, Fuller, Gavin, Twiss, Philip, Spasic-Boskovic, Olivera, Halsall, Sally, Floto, R Andres, Poole, Kenneth, Wagner, Annette, Mehta, Sarju G, Gurnell, Mark, Burrows, Nigel, James, Roger, Penkett, Christopher, Dewhurst, Eleanor, Gräf, Stefan, Mapeta, Rutendo, Kasanicki, Mary, Haworth, Andrea, Savage, Helen, Babcock, Melanie, Reese, Martin G, Bale, Mark, Baple, Emma, Boustred, Christopher, Brittain, Helen, de Burca, Anna, Bleda, Marta, Devereau, Andrew, Halai, Dina, Haraldsdottir, Eik, Hyder, Zerin, Kasperaviciute, Dalia, Patch, Christine, Polychronopoulos, Dimitris, Matchan, Angela, Sultana, Razvan, Ryten, Mina, Tavares, Ana L T, Tregidgo, Carolyn, Turnbull, Clare, Welland, Matthew, Wood, Suzanne, Snow, Catherine, Williams, Eleanor, Leigh, Sarah, Foulger, Rebecca E, Daugherty, Louise C, Niblock, Olivia, Leong, Ivone U S, Wright, Caroline F, Davies, Jim, Crichton, Charles, Welch, James, Woods, Kerrie, Abulhoul, Lara, Aurora, Paul, Bockenhauer, Detlef, Broomfield, Alexander, Cleary, Maureen A, Lam, Tanya, Dattani, Mehul, Footitt, Emma, Ganesan, Vijeya, Grunewald, Stephanie, Compeyrot-Lacassagne, Sandrine, Muntoni, Francesco, Pilkington, Clarissa, Quinlivan, Rosaline, Thapar, Nikhil, Wallis, Colin, Wedderburn, Lucy R, Worth, Austen, Bueser, Teofila, Compton, Cecilia, Deshpande, Charu

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THE 6-minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study von Mcdonald, Craig M., Henricson, Erik K., Abresch, R. Ted, Florence, Julaine M., Eagle, Michelle, Gappmaier, Eduard, Glanzman, Allan M., Spiegel, Robert, Barth, Jay, Elfring, Gary, Reha, Allen, Peltz, Stuart

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The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: Reliability, concurrent validity, and minimal clinically important differences from a multicente... von McDonald, Craig M., Henricson, Erik K., Abresch, R. Ted, Florence, Julaine, Eagle, Michelle, Gappmaier, Eduard, Glanzman, Allan M., Spiegel, Robert, Barth, Jay, Elfring, Gary, Reha, Allen, Peltz, Stuart W.

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MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy von Bugiardini, Enrico, Mitchell, Alice L, Rosa, Ilaria Dalla, Horning-Do, Hue-Tran, Pitmann, Alan M, Poole, Olivia V, Holton, Janice L, Shah, Sachit, Woodward, Cathy, Hargreaves, Iain, Quinlivan, Rosaline, Amunts, Alexey, Wiesner, Rudolf J, Houlden, Henry, Holt, Ian J, Hanna, Michael G, Pitceathly, Robert D S, Spinazzola, Antonella

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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing von Macken, William L., Falabella, Micol, McKittrick, Caroline, Pizzamiglio, Chiara, Ellmers, Rebecca, Eggleton, Kelly, Woodward, Cathy E., Patel, Yogen, Labrum, Robyn, Phadke, Rahul, Reilly, Mary M., DeVile, Catherine, Sarkozy, Anna, Footitt, Emma, Davison, James, Rahman, Shamima, Houlden, Henry, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G., Vandrovcova, Jana, Pitceathly, Robert D. S.

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Hereditary myopathy with early respiratory failure: occurrence in various populations von Palmio, Johanna, Evilä, Anni, Chapon, Françoise, Tasca, Giorgio, Xiang, Fengqing, Brådvik, Björn, Eymard, Bruno, Echaniz-Laguna, Andoni, Laporte, Jocelyn, Kärppä, Mikko, Mahjneh, Ibrahim, Quinlivan, Rosaline, Laforêt, Pascal, Damian, Maxwell, Berardo, Andres, Taratuto, Ana Lia, Bueri, Jose Antonio, Tommiska, Johanna, Raivio, Taneli, Tuerk, Matthias, Gölitz, Philipp, Chevessier, Frederic, Sewry, Caroline, Norwood, Fiona, Hedberg, Carola, Schröder, Rolf, Edström, Lars, Oldfors, Anders, Hackman, Peter, Udd, Bjarne

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The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy von Thangarajh, Mathula, Elfring, Gary L, Trifillis, Panayiota, McIntosh, Joseph, Peltz, Stuart W

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Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy von Shieh, Perry B, Elfring, Gary, Trifillis, Panayiota, Santos, Claudio, Peltz, Stuart W, Parsons, Julie A, Apkon, Susan, Darras, Basil T, Campbell, Craig, McDonald, Craig M

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report von 100,000 Genomes Project Pilot Investigators, Cipriani, Valentina, Ellingford, Jamie M, Tucci, Arianna, Chan, Georgia, Ratnaike, Thiloka, Wei, Wei, Stirrups, Kathleen, Moutsianas, Loukas, Wielscher, Matthias, Barnes, Michael R, Buchanan, James, Wordsworth, Sarah, Ashford, Sofie, Twiss, Philip, Halsall, Sally, Poole, Kenneth, Wagner, Annette, Gurnell, Mark, Burrows, Nigel, Mapeta, Rutendo, Haworth, Andrea, Savage, Helen, Babcock, Melanie, Boustred, Christopher, Devereau, Andrew, Halai, Dina, Hyder, Zerin, Kasperaviciute, Dalia, Patch, Christine, Matchan, Angela, Tavares, Ana LT, Tregidgo, Carolyn, Welland, Matthew, Leigh, Sarah, Foulger, Rebecca E, Daugherty, Louise C, Niblock, Olivia, Leong, Ivone US, Welch, James, Woods, Kerrie, Abulhoul, Lara, Aurora, Paul, Broomfield, Alexander, Cleary, Maureen A, Lam, Tanya, Grunewald, Stephanie, Muntoni, Francesco, Thapar, Nikhil, Wallis, Colin, Worth, Austen, Bueser, Teofila, Compton, Cecilia, Fassihi, Hiva, Ruddy, Deborah, Sarkany, Robert, Shaw, Adam C, Habib, Bishoy, Burns, Gavin, Robinson, Peter N, Haendel, Melissa, Simpson, Michael A, Banka, Siddharth, Clayton-Smith, Jill, Douzgou, Sofia, O'Keefe, Raymond T, Michaelides, Michel, Malka, Sam, Straub, Volker, Gorman, Gráinne S, Horvath, Rita, Schaefer, Andrew M, O'Connor, Emer, Yip, Janice, Morris, Huw R, Polke, James, Wood, Nicholas W, Camps, Carme, Lester, Tracy, Németh, Andrea H, Patel, Smita, Sen, Arjune, Cacheiro, Pilar, Chitty, Lyn, McMullan, Dom, Temple, I Karen, Wilson, Gill, Beales, Phil, Bradley, John R, Chinnery, Patrick F, Flinter, Frances, Houlden, Henry, Rahman, Shamima, Webster, Andrew R, Wilkie, Andrew OM, Ouwehand, Willem H, Chisholm, John, Bentley, David, Fowler, Tom, Rendon, Augusto

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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study von Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F, Genomics England Research Consortium, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M

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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study von Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F, Genomics England Research Consortium, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M

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