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Outcome Measures for Central Nervous System Evaluation in Myotonic Dystrophy Type 1 May Be Confounded by Deficits in Motor Function or Insight.
Published in:
Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2018.00780
By:
- Hamilton, Mark J.;
- McLean, John;
- Cumming, Sarah;
- Ballantyne, Bob;
- McGhie, Josephine;
- Jampana, Ravi;
- Longman, Cheryl;
- Evans, Jonathan J.;
- Monckton, Darren G.;
- Farrugia, Maria Elena
Publication type:
Article
Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?
Published in:
Clinical Genetics, 2013, v. 83, n. 2, p. 187, doi. 10.1111/j.1399-0004.2012.01876.x
By:
- McGowan, Ruth;
- Challoner, Benjamin R.;
- Ross, Sarah;
- Holloway, Susan;
- Joss, Shelagh;
- Wilcox, Douglas;
- Holden, Simon T.;
- Tolmie, John;
- Longman, Cheryl
Publication type:
Article
UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. P6, doi. 10.1186/1750-1172-9-S1-P6
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
Publication type:
Article
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2‐related distal arthrogryposis type 5.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 546, doi. 10.1002/ajmg.a.63019
By:
- Oliwa, Agata;
- Hendson, Glenda;
- Longman, Cheryl;
- Synnes, Anne;
- Seath, Kim;
- Barnicoat, Angela;
- Hall, Judith G.;
- Patel, Millan S.
Publication type:
Article
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Published in:
Nature Genetics, 2010, v. 42, n. 2, p. 160, doi. 10.1038/ng.508
By:
- Auer-Grumbach, Michaela;
- Olschewski, Andrea;
- Papić, Lea;
- Kremer, Hannie;
- McEntagart, Meriel E.;
- Uhrig, Sabine;
- Fischer, Carina;
- Fröhlich, Eleonore;
- Bálint, Zoltán;
- Bi Tang;
- Strohmaier, Heimo;
- Lochmüller, Hanns;
- Schlotter-Weigel, Beate;
- Senderek, Jan;
- Krebs, Angelika;
- Dick, Katherine J.;
- Petty, Richard;
- Longman, Cheryl;
- Anderson, Neil E.;
- Padberg, George W.
Publication type:
Article
Congenital muscular dystrophy.
Published in:
2005
By:
- Mercuri, Eugenio;
- Longman, Cheryl
Publication type:
journal article
A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease.
Published in:
Clinical Rehabilitation, 2014, v. 28, n. 5, p. 508, doi. 10.1177/0269215513511340
By:
- Graham, Christopher D;
- Weinman, John;
- Sadjadi, Reza;
- Chalder, Trudie;
- Petty, Richard;
- Hanna, Mike G;
- Turner, Chris;
- Parton, Matt;
- Maddison, Paul;
- Radunovic, Aleksandar;
- Longman, Cheryl;
- Robb, Yvonne;
- Bushby, Kate;
- Hilton-Jones, David;
- Rose, Michael R
Publication type:
Article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Published in:
JAMA Neurology, 2017, v. 74, n. 6, p. 686, doi. 10.1001/jamaneurol.2016.4357
By:
- Sommerville, Ewen W.;
- Yi Shiau Ng;
- Alston, Charlotte L.;
- Dallabona, Cristina;
- Gilberti, Micol;
- Langping He;
- Knowles, Charlotte;
- Chin, Sophie L.;
- Schaefer, Andrew M.;
- Falkous, Gavin;
- Murdoch, David;
- Longman, Cheryl;
- de Visser, Marianne;
- Bindoff, Laurence A.;
- Rawles, John M.;
- Dean, John C. S.;
- Petty, Richard K.;
- Farrugia, Maria E.;
- Haack, Tobias B.;
- Prokisch, Holger
Publication type:
Article
Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays.
Published in:
Nucleic Acids Research, 2004, v. 32, n. 20, p. e164, doi. 10.1093/nar/gnh163
By:
- Sellick, Gabrielle S.;
- Longman, Cheryl;
- Tolmie, John;
- Newbury-Ecob, Ruth;
- Geenhalgh, Lynn;
- Hughes, Simon;
- Whiteford, Margo;
- Garrett, Christine;
- Houlston, Richard S.
Publication type:
Article
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1323, doi. 10.1093/brain/awu060
By:
- Pfeffer, Gerald;
- Gorman, Gráinne S;
- Griffin, Helen;
- Kurzawa-Akanbi, Marzena;
- Blakely, Emma L.;
- Wilson, Ian;
- Sitarz, Kamil;
- Moore, David;
- Murphy, Julie L.;
- Alston, Charlotte L.;
- Pyle, Angela;
- Coxhead, Jon;
- Payne, Brendan;
- Gorrie, George H.;
- Longman, Cheryl;
- Hadjivassiliou, Marios;
- McConville, John;
- Dick, David;
- Imam, Ibrahim;
- Hilton, David
Publication type:
Article
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 269
By:
- Cirak, Sebahattin;
- Foley, Aileen Reghan;
- Herrmann, Ralf;
- Willer, Tobias;
- Yau, Shu;
- Stevens, Elizabeth;
- Torelli, Silvia;
- Brodd, Lina;
- Kamynina, Alisa;
- Vondracek, Petr;
- Roper, Helen;
- Longman, Cheryl;
- Korinthenberg, Rudolf;
- Marrosu, Gianni;
- Nürnberg, Peter;
- Michele, Daniel E.;
- Plagnol, Vincent;
- Hurles, Matt;
- Moore, Steven A.;
- Sewry, Caroline A.
Publication type:
Article
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 179, doi. 10.3233/JND-230166
By:
- Saunders, Charlie;
- Longman, Cheryl;
- Gorman, Grainne;
- James, Kelly;
- Oliwa, Agata;
- Petty, Richard;
- Snadden, Lesley;
- Farrugia, Maria Elena
Publication type:
Article
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 803, doi. 10.3233/JND-220818
By:
- Oliwa, Agata;
- Joseph, Shuko;
- Millar, Eoghan;
- Horrocks, Iain;
- Penman, Dawn;
- Baptista, Julia;
- Cullup, Thomas;
- Constantinou, Panayiotis;
- Heuchan, Anne-Marie;
- Hamilton, Ruth;
- Longman, Cheryl
Publication type:
Article
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Published in:
Annals of Neurology, 2008, v. 64, n. 5, p. 573, doi. 10.1002/ana.21482
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
Publication type:
Article
Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition.
Published in:
Science Signaling, 2022, v. 15, n. 753, p. 1, doi. 10.1126/scisignal.abk1147
By:
- Pilo, Caila A.;
- Baffi, Timothy R.;
- Kornev, Alexandr P.;
- Kunkel, Maya T.;
- Malfavon, Mario;
- Chen, Dong-Hui;
- Rossitto, Leigh-Ana;
- Chen, Daniel X.;
- Huang, Liang-Chin;
- Longman, Cheryl;
- Kannan, Natarajan;
- Raskind, Wendy H.;
- Gonzalez, David J.;
- Taylor, Susan S.;
- Gorrie, George;
- Newton, Alexandra C.
Publication type:
Article
Making sense of missense variants in TTN-related congenital myopathies.
Published in:
Acta Neuropathologica, 2021, v. 141, n. 3, p. 431, doi. 10.1007/s00401-020-02257-0
By:
- Rees, Martin;
- Nikoopour, Roksana;
- Fukuzawa, Atsushi;
- Kho, Ay Lin;
- Fernandez-Garcia, Miguel A.;
- Wraige, Elizabeth;
- Bodi, Istvan;
- Deshpande, Charu;
- Özdemir, Özkan;
- Daimagüler, Hülya-Sevcan;
- Pfuhl, Mark;
- Holt, Mark;
- Brandmeier, Birgit;
- Grover, Sarah;
- Fluss, Joël;
- Longman, Cheryl;
- Farrugia, Maria Elena;
- Matthews, Emma;
- Hanna, Michael;
- Muntoni, Francesco
Publication type:
Article
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.
Published in:
Acta Neuropathologica, 2013, v. 125, n. 6, p. 917, doi. 10.1007/s00401-013-1113-x
By:
- Henderson, Matthew;
- Waele, Liesbeth;
- Hudson, Judith;
- Eagle, Michelle;
- Sewry, Caroline;
- Marsh, Julie;
- Charlton, Richard;
- He, Langping;
- Blakely, Emma;
- Horrocks, Iain;
- Stewart, William;
- Taylor, Robert;
- Longman, Cheryl;
- Bushby, Kate;
- Barresi, Rita
Publication type:
Article
Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies.
Published in:
Human Mutation, 2014, v. 35, n. 7, p. 779, doi. 10.1002/humu.22554
By:
- Marttila, Minttu;
- Lehtokari, Vilma‐Lotta;
- Marston, Steven;
- Nyman, Tuula A.;
- Barnerias, Christine;
- Beggs, Alan H.;
- Bertini, Enrico;
- Ceyhan‐Birsoy, Özge;
- Cintas, Pascal;
- Gerard, Marion;
- Gilbert‐Dussardier, Brigitte;
- Hogue, Jacob S.;
- Longman, Cheryl;
- Eymard, Bruno;
- Frydman, Moshe;
- Kang, Peter B.;
- Klinge, Lars;
- Kolski, Hanna;
- Lochmüller, Hans;
- Magy, Laurent
Publication type:
Article
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 5, p. 657, doi. 10.1093/hmg/ddi062
By:
- Brockington, Martin;
- Torelli, Silvia;
- Prandini, Paola;
- Boito, Chiara;
- Dolatshad, Nazanin F.;
- Longman, Cheryl;
- Brown, Susan C.;
- Muntoni, Francesco
Publication type:
Article
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan.
Published in:
Human Molecular Genetics, 2003, v. 12, n. 21, p. 2853, doi. 10.1093/hmg/ddg307
By:
- Longman, Cheryl;
- Brockington, Martin;
- Torelli, Silvia;
- Jimenez-Mallebrera, Cecilia;
- Kennedy, Colin;
- Khalil, Nofal;
- Feng, Lucy;
- Saran, Ravindra K.;
- Voit, Thomas;
- Merlini, Luciano;
- Sewry, Caroline A.;
- Brown, Susan C.;
- Muntoni, Francesco
Publication type:
Article
Correction: Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study.
Published in:
2017
By:
- Hamilton, Mark J.;
- Robb, Yvonne;
- Cumming, Sarah;
- Gregory, Helen;
- Duncan, Alexis;
- Rahman, Monika;
- McKeown, Anne;
- McWilliam, Catherine;
- Dean, John;
- Wilcox, Alison;
- Farrugia, Maria E.;
- Cooper, Anneli;
- McGhie, Josephine;
- Adam, Berit;
- Petty, Richard;
- null, null;
- Longman, Cheryl;
- Findlay, Iain;
- Japp, Alan;
- Monckton, Darren G.
Publication type:
Correction Notice
Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study.
Published in:
PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0174166
By:
- Hamilton, Mark J.;
- Robb, Yvonne;
- Cumming, Sarah;
- Gregory, Helen;
- Duncan, Alexis;
- Rahman, Monika;
- McKeown, Anne;
- McWilliam, Catherine;
- Dean, John;
- Wilcox, Alison;
- Farrugia, Maria E.;
- Cooper, Anneli;
- McGhie, Josephine;
- Adam, Berit;
- Petty, Richard;
- null, null;
- Longman, Cheryl;
- Findlay, Iain;
- Japp, Alan;
- Monckton, Darren G.
Publication type:
Article

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