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Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy.
Published in:
PLoS ONE, 2023, v. 17, n. 4, p. 1, doi. 10.1371/journal.pone.0283669
By:
- Ayyar Gupta, Vandana;
- Pitchforth, Jacqueline M.;
- Domingos, Joana;
- Ridout, Deborah;
- Iodice, Mario;
- Rye, Catherine;
- Chesshyre, Mary;
- Wolfe, Amy;
- Selby, Victoria;
- Mayhew, Anna;
- Mazzone, Elena S.;
- Ricotti, Valeria;
- Hogrel, Jean-Yves;
- Niks, Erik H.;
- de Groot, Imelda;
- Servais, Laurent;
- Straub, Volker;
- Mercuri, Eugenio;
- Manzur, Adnan Y.;
- Muntoni, Francesco
Publication type:
Article
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.
Published in:
2018
By:
- Crow, Rebecca A;
- Hart, Kimberly A;
- McDermott, Michael P;
- Tawil, Rabi;
- Martens, William B;
- Herr, Barbara E;
- McColl, Elaine;
- Wilkinson, Jennifer;
- Kirschner, Janbernd;
- King, Wendy M;
- Eagle, Michele;
- Brown, Mary W;
- Hirtz, Deborah;
- Lochmuller, Hanns;
- Straub, Volker;
- Ciafaloni, Emma;
- Shieh, Perry B;
- Spinty, Stefan;
- Childs, Anne-Marie;
- Manzur, Adnan Y
Publication type:
journal article
Secondary outcomes of scoliosis surgery in disease‐modifying treatment‐naïve patients with spinal muscular atrophy type 2 and nonambulant type 3.
Published in:
Muscle & Nerve, 2024, v. 70, n. 5, p. 1000, doi. 10.1002/mus.28238
By:
- Brusa, Chiara;
- Baranello, Giovanni;
- Ridout, Deborah;
- de Graaf, Julie;
- Manzur, Adnan Y;
- Munot, Pinki;
- Sarkozy, Anna;
- Main, Marion;
- Milev, Evelin;
- Iodice, Mario;
- Ramsey, Danielle;
- Tucker, Stewart;
- Ember, Tom;
- Nadarajah, Ramesh;
- Muntoni, Francesco;
- Scoto, Mariacristina
Publication type:
Article
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Published in:
Nature Genetics, 2011, v. 43, n. 12, p. 1189, doi. 10.1038/ng.995
By:
- Logan, Clare V;
- Lucke, Barbara;
- Pottinger, Caroline;
- Abdelhamed, Zakia A;
- Parry, David A;
- Szymanska, Katarzyna;
- Diggle, Christine P;
- Riesen, Anne van;
- Morgan, Joanne E;
- Markham, Grace;
- Ellis, Ian;
- Manzur, Adnan Y;
- Markham, Alexander F;
- Shires, Mike;
- Helliwell, Tim;
- Scoto, Mariacristina;
- Hübner, Christoph;
- Bonthron, David T;
- Taylor, Graham R;
- Sheridan, Eamonn
Publication type:
Article
Inspiratory flow reserve in boys with Duchenne muscular dystrophy.
Published in:
Pediatric Pulmonology, 2001, v. 31, n. 6, p. 451, doi. 10.1002/ppul.1074
By:
- De Bruin, Pedro F.;
- Ueki, Jun;
- Bush, Andrew;
- Y. Manzur, Adnan;
- Watson, Ann;
- Pride, Neil B.
Publication type:
Article
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1249, doi. 10.1038/ejhg.2013.31
By:
- Scoto, Mariacristina;
- Cullup, Thomas;
- Cirak, Sebahattin;
- Yau, Shu;
- Manzur, Adnan Y;
- Feng, Lucy;
- Jacques, Thomas S;
- Anderson, Glenn;
- Abbs, Stephen;
- Sewry, Caroline;
- Jungbluth, Heinz;
- Muntoni, Francesco
Publication type:
Article
Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy.
Published in:
PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0221097
By:
- Muntoni, Francesco;
- Domingos, Joana;
- Manzur, Adnan Y.;
- Mayhew, Anna;
- Guglieri, Michela;
- null, null;
- Sajeev, Gautam;
- Signorovitch, James;
- Ward, Susan J.
Publication type:
Article
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 1, p. 44, doi. 10.1093/brain/awt315
By:
- Foley, A. Reghan;
- Menezes, Manoj P.;
- Pandraud, Amelie;
- Gonzalez, Michael A.;
- Al-Odaib, Ahmad;
- Abrams, Alexander J.;
- Sugano, Kumiko;
- Yonezawa, Atsushi;
- Manzur, Adnan Y.;
- Burns, Joshua;
- Hughes, Imelda;
- McCullagh, B. Gary;
- Jungbluth, Heinz;
- Lim, Ming J.;
- Lin, Jean-Pierre;
- Megarbane, Andre;
- Urtizberea, J. Andoni;
- Shah, Ayaz H.;
- Antony, Jayne;
- Webster, Richard
Publication type:
Article
Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2288, doi. 10.1002/acn3.51218
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
Publication type:
Article
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Published in:
2017
By:
- Salpietro, Vincenzo;
- Lin, Weichun;
- Delle Vedove, Andrea;
- Storbeck, Markus;
- Liu, Yun;
- Efthymiou, Stephanie;
- Manole, Andreea;
- Wiethoff, Sarah;
- Ye, Qiaohong;
- Saggar, Anand;
- McElreavey, Kenneth;
- Krishnakumar, Shyam S.;
- Pitt, Matthew;
- Bello, Oscar D.;
- Rothman, James E.;
- Basel‐Vanagaite, Lina;
- Hubshman, Monika Weisz;
- Aharoni, Sharon;
- Manzur, Adnan Y.;
- Wirth, Brunhilde
Publication type:
journal article
Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy.
Published in:
Developmental Medicine & Child Neurology, 2022, v. 64, n. 8, p. 979, doi. 10.1111/dmcn.15176
By:
- Zambon, Alberto A.;
- Ayyar Gupta, Vandana;
- Ridout, Deborah;
- Manzur, Adnan Y.;
- Baranello, Giovanni;
- Trucco, Federica;
- Muntoni, Francesco;
- Tirupath, Sandya;
- Douglas, Melanie;
- McFetridge, Jaci;
- Parasuraman, Deepak;
- Alhaswani, Zoya;
- McMurchie, Heather;
- Rabb, Rosanna;
- Majumdar, Anirban;
- Vijayakumar, Kayal;
- Amin, Sam;
- Mason, Faye;
- Frimpong‐Ansah, Claire;
- Gibbon, Frances
Publication type:
Article
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 2, p. 320, doi. 10.1093/hmg/ddw388
By:
- Bachmann, Christoph;
- Jungbluth, Heinz;
- Muntoni, Francesco;
- Manzur, Adnan Y.;
- Zorzato, Francesco;
- Treves, Susan
Publication type:
Article
Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report.
Published in:
2013
By:
- Jethwa, Hannah;
- Jacques, Thomas S.;
- Gunny, Roxanna;
- Wedderburn, Lucy R.;
- Pilkington, Clarissa;
- Manzur, Adnan Y.
Publication type:
Case Study
Expanding the Mutational Spectrum of CRLF1 in Crisponi/ CISS1 Syndrome.
Published in:
Human Mutation, 2014, v. 35, n. 4, p. 424, doi. 10.1002/humu.22522
By:
- Piras, Roberta;
- Chiappe, Francesca;
- Torraca, Ilaria La;
- Buers, Insa;
- Usala, Gianluca;
- Angius, Andrea;
- Akin, Mustafa Ali;
- Basel‐Vanagaite, Lina;
- Benedicenti, Francesco;
- Chiodin, Elisabetta;
- El Assy, Osama;
- Feingold‐Zadok, Michal;
- Guibert, Javier;
- Kamien, Benjamin;
- Kasapkara, Çiğdem Seher;
- Kılıç, Esra;
- Boduroğlu, Koray;
- Kurtoglu, Selim;
- Manzur, Adnan Y;
- Onal, Eray Esra
Publication type:
Article
RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling.
Published in:
Human Mutation, 2013, v. 34, n. 7, p. 986, doi. 10.1002/humu.22326
By:
- Zhou, Haiyan;
- Rokach, Ori;
- Feng, Lucy;
- Munteanu, Iulia;
- Mamchaoui, Kamel;
- Wilmshurst, Jo M.;
- Sewry, Caroline;
- Manzur, Adnan Y.;
- Pillay, Komala;
- Mouly, Vincent;
- Duchen, Michael;
- Jungbluth, Heinz;
- Treves, Susan;
- Muntoni, Francesco
Publication type:
Article
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies.
Published in:
Human Mutation, 2012, v. 33, n. 8, p. 1310, doi. 10.1002/humu.22136
By:
- Klein, Andrea;
- Lillis, Suzanne;
- Munteanu, Iulia;
- Scoto, Mariacristina;
- Zhou, Haiyan;
- Quinlivan, Ros;
- Straub, Volker;
- Manzur, Adnan Y.;
- Roper, Helen;
- Jeannet, Pierre-Yves;
- Rakowicz, Wojtek;
- Jones, David Hilton;
- Jensen, Uffe Birk;
- Wraige, Elizabeth;
- Trump, Natalie;
- Schara, Ulrike;
- Lochmuller, Hanns;
- Sarkozy, Anna;
- Kingston, Helen;
- Norwood, Fiona
Publication type:
Article

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