Search Results - Evangelista, Teresinha

Survey on patients’ organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe by Lamy, F., Ferlini, A., Evangelista, Teresinha

Get full text Get full text Get full text

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands by Evangelista, Teresinha, Weihl, Conrad C., Kimonis, Virginia, Lochmüller, Hanns

Get full text Get full text Get full text

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome by Alrohaif, Hadil, Töpf, Ana, Evangelista, Teresinha, Lek, Monkol, McArthur, Daniel, Lochmüller, Hanns

Get full text Get full text Get full text

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients by McMacken, Grace, Whittaker, Roger G., Evangelista, Teresinha, Abicht, Angela, Dusl, Marina, Lochmüller, Hanns

Get full text Get full text Get full text

Centres of Expertise and European Reference Networks: key issues in the field of rare diseases. The EUCERD Recommendations by Taruscio, Domenica, Gentile, Amalia E., Evangelista, Teresinha, Frazzica, Rosa G., Bushby, Kate, Montserrat, Antoni Moliner

Get full text Get full text Get full text

The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks by Evangelista, Teresinha, Hedley, Victoria, Atalaia, Antonio, Johnson, Matt, Lynn, Stephen, Le Cam, Yann, Bushby, Kate

Get full text Get full text Get full text

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes by Azuma, Yoshiteru, Töpf, Ana, Evangelista, Teresinha, Lorenzoni, Paulo José, Roos, Andreas, Viana, Pedro, Inagaki, Hidehito, Kurahashi, Hiroki, Lochmüller, Hanns

Get full text Get full text Get full text

Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study by Peterlin, Borut, Gualandi, Francesca, Maver, Ales, Servidei, Serenella, van der Maarel, Silvère M., Lamy, Francoise, Mejat, Alexander, Evangelista, Teresinha, Ferlini, Alessandra

Get full text Get full text Get full text

Phenotypic variability of TRPV4 related neuropathies by Evangelista, Teresinha, Bansagi, Boglarka, Pyle, Angela, Griffin, Helen, Douroudis, Konstantinos, Polvikoski, Tuomo, Antoniadi, Thalia, Bushby, Kate, Straub, Volker, Chinnery, Patrick F., Lochmüller, Hanns, Horvath, Rita

Get full text Get full text Get full text

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome by O’Connor, Emily, Töpf, Ana, Müller, Juliane S., Cox, Daniel, Evangelista, Teresinha, Colomer, Jaume, Abicht, Angela, Senderek, Jan, Hasselmann, Oswald, Yaramis, Ahmet, Laval, Steven H., Lochmüller, Hanns

Get full text Get full text Get full text

Liver and Muscle in Morbid Obesity: The Interplay of Fatty Liver and Insulin Resistance by Machado, Mariana Verdelho, Ferreira, Duarte M. S., Castro, Rui E., Silvestre, Ana Rita, Evangelista, Teresinha, Coutinho, João, Carepa, Fátima, Costa, Adília, Rodrigues, Cecília M. P., Cortez-Pinto, Helena

Get full text Get full text Get full text

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry by Evangelista, Teresinha, Wood, Libby, Fernandez-Torron, Roberto, Williams, Maggie, Smith, Debbie, Lunt, Peter, Hudson, Judith, Norwood, Fiona, Orrell, Richard, Willis, Tracey, Hilton-Jones, David, Rafferty, Karen, Guglieri, Michela, Lochmüller, Hanns

Get full text Get full text Get full text

UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry by Wood, Libby, Evangelista, Teresinha, Norwood, Fiona, Orrell, Richard, Pohlschmidt, Marita, Busby, Mark, Graham, Andrew, Hilton-Jones, David, Longman, Cheryl, Lunt, Peter, Roberts, Mark, Watt, Stuart, Watt, Suzanne, Willis, Tracey, Lochmüller, Hanns

Get full text Get full text

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy by Moreira, Sandra, Wood, Libby, Smith, Debbie, Marini-Bettolo, Chiara, Guglieri, Michela, McMacken, Grace, Bailey, Geraldine, Mayhew, Anna, Muni-Lofra, Robert, Eglon, Gail, Williams, Maggie, Straub, Volker, Lochmüller, Hanns, Evangelista, Teresinha

Get full text Get full text Get full text

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation by Dominov, Janice A., Uyan, Özgün, McKenna‐Yasek, Diane, Nallamilli, Babi Ramesh Reddy, Kergourlay, Virginie, Bartoli, Marc, Levy, Nicolas, Hudson, Judith, Evangelista, Teresinha, Lochmuller, Hanns, Krahn, Martin, Rufibach, Laura, Hegde, Madhuri, Brown, Robert H.

Get full text Get full text Get full text

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy by Harris, Elizabeth, Topf, Ana, Barresi, Rita, Hudson, Judith, Powell, Helen, Tellez, James, Hicks, Debbie, Porter, Anna, Bertoli, Marta, Evangelista, Teresinha, Marini-Betollo, Chiara, Magnússon, Ólafur, Lek, Monkol, MacArthur, Daniel, Bushby, Kate, Lochmüller, Hanns, Straub, Volker

Get full text Get full text Get full text

Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy by Morís, Germán, Wood, Libby, FernáNdez‐Torrón, Roberto, González Coraspe, José Andrés, Turner, Chris, Hilton‐Jones, David, Norwood, Fiona, Willis, Tracey, Parton, Matt, Rogers, Mark, Hammans, Simon, Roberts, Mark, Househam, Elizabeth, Williams, Maggie, Lochmüller, Hanns, Evangelista, Teresinha

Get full text Get full text Get full text

Genetic heterogeneity of motor neuropathies by Bansagi, Boglarka, Griffin, Helen, Whittaker, Roger G., Antoniadi, Thalia, Evangelista, Teresinha, Miller, James, Greenslade, Mark, Forester, Natalie, Duff, Jennifer, Bradshaw, Anna, Kleinle, Stephanie, Boczonadi, Veronika, Steele, Hannah, Ramesh, Venkateswaran, Franko, Edit, Pyle, Angela, Lochmüller, Hanns, Chinnery, Patrick F., Horvath, Rita

Get full text Get full text Get full text

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness by Lukacs, Zoltan, Nieves Cobos, Paulina, Wenninger, Stephan, Willis, Tracey A., Guglieri, Michela, Roberts, Marc, Quinlivan, Rosaline, Hilton-Jones, David, Evangelista, Teresinha, Zierz, Stephan, Schlotter-Weigel, Beate, Walter, Maggie C., Reilich, Peter, Klopstock, Thomas, Deschauer, Marcus, Straub, Volker, Müller-Felber, Wolfgang, Schoser, Benedikt

Get full text Get full text Get full text

Two recurrent mutations are associated with GNE myopathy in the North of Britain by Chaouch, Amina, Brennan, Kathryn M, Hudson, Judith, Longman, Cheryl, McConville, Jon, Morrisson, Patrick J, Farrugia, Maria E, Petty, Richard, Stewart, Willie, Norwood, Fiona, Horvath, Rita, Chinnery, Patrick F, Costigan, Donald, Winer, John, Polvikoski, Tuomo, Healey, Estelle, Sarkozy, Anna, Guglieri, Michela, Evangelista, Teresinha, Pogoryelova, Oksana, Eagle, Michelle, Bushby, Kate, Straub, Volker, Lochmüller, Hanns

Get full text Get full text Get full text