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Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.
Published in:
2009
By:
- Ackroyd MR;
- Skordis L;
- Kaluarachchi M;
- Godwin J;
- Prior S;
- Fidanboylu M;
- Piercy RJ;
- Muntoni F;
- Brown SC;
- Ackroyd, M R;
- Skordis, L;
- Kaluarachchi, M;
- Godwin, J;
- Prior, S;
- Fidanboylu, M;
- Piercy, R J;
- Muntoni, F;
- Brown, S C
Publication type:
journal article
753 Impaired response of the brachial artery to nitroglycerine in patients with limb-girdle muscular dystrophy.
Published in:
2003
By:
- Giatrakos, N.;
- Kinali, M.;
- Muntoni, F.;
- Nihoyannopoulos, P.
Publication type:
Abstract
211 Estimation of diastolic dysfunction using the time to onset of relaxation by strain rate in patients with Duchenne muscular dystrophy.
Published in:
2003
By:
- Giatrakos, N.;
- Kinali, M.;
- Muntoni, F.;
- Nihoyannopoulos, P.
Publication type:
Abstract
653 Early detection of impaired cardiac function using strain rate in patients with Duchenne muscular dystrophy.
Published in:
2003
By:
- Giatrakos, N.;
- Kinali, M.;
- Koutroulis, G.;
- Muntoni, F.;
- Nihoyannopoulos, P.
Publication type:
Abstract
Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction?
Published in:
1999
By:
- Gnecchi-Ruscone, Tomaso;
- Taylor, Jackie;
- Mercuri, Eugenio;
- Paternostro, Giovanni;
- Pogue, Robert;
- Bushby, Kate;
- Sewry, Caroline;
- Muntoni, Francesco;
- Camici, Paolo G.;
- Gnecchi-Ruscone, T;
- Taylor, J;
- Mercuri, E;
- Paternostro, G;
- Pogue, R;
- Bushby, K;
- Sewry, C;
- Muntoni, F;
- Camici, P G
Publication type:
journal article
Characteristic Cochlear Hypoplasia in Patients with Walker- Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan–Related Muscular Disorders.
Published in:
American Journal of Neuroradiology, 2021, v. 42, n. 1, p. 167, doi. 10.3174/ajnr.A6858
By:
- Talenti, G.;
- Robson, C.;
- Severino, M. S.;
- Alves, C. A.;
- Chitayat, D.;
- Dahmoush, H.;
- Smith, L.;
- Muntoni, F.;
- Blaser, S. I.;
- D’Arco, F.
Publication type:
Article
NorthStar and SMARTnet: development of paediatric neuromuscular disease clinical networks in the UK.
Published in:
2007
By:
- Scott E;
- Mayhew A;
- Muntoni F;
- Manzur AY
Publication type:
Journal Article
Tissue-specific imprinting of the skeletal muscle ryanodine receptor (RYR1) gene -- a novel mechanism in neuromuscular disease.
Published in:
2007
By:
- Jungbluth H;
- Zhou H;
- Brockington M;
- Monk D;
- Stanier P;
- Sewry CA;
- Moore GE;
- Muntoni F
Publication type:
Journal Article
Presymptomatic cardiomyopathy in Duchenne muscular dystrophy: the role of ACE inhibitor therapy.
Published in:
2007
By:
- Robinson R;
- Kinali M;
- Sagi L;
- Nihoyannopoulos P;
- Manzur A;
- Muntoni F
Publication type:
Journal Article
Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study.
Published in:
2006
By:
- Kinali M;
- Messina S;
- Mercuri E;
- Lehovsky J;
- Edge G;
- Manzur AY;
- Muntoni F
Publication type:
Journal Article
Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study.
Published in:
Developmental Medicine & Child Neurology, 2006, v. 48, n. 6, p. 513, doi. 10.1017/S0012162206001083
By:
- M Kinali;
- S Messina;
- E Mercuri;
- J Lehovsky;
- G Edge;
- AY Manzur;
- F Muntoni
Publication type:
Article
Fracture prevalence in Duchenne muscular dystrophy.
Published in:
2002
By:
- McDonald DGM;
- Kinali M;
- Gallagher AC;
- Mercuri E;
- Muntoni F;
- Roper H;
- Jardine P;
- Jones DH;
- Pike MG;
- McDonald, Denise G M;
- Kinali, Maria;
- Gallagher, Andrew C;
- Mercuri, Eugenio;
- Muntoni, Francesco;
- Roper, Helen;
- Jardine, Philip;
- Jones, David Hilton;
- Pike, M G
Publication type:
journal article
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3.
Published in:
Human Genetics, 2005, v. 117, n. 2/3, p. 207, doi. 10.1007/s00439-005-1301-4
By:
- Sellick, G. S.;
- Longman, C.;
- Brockington, M.;
- Mahjneh, I.;
- Sagi, L.;
- Bushby, K.;
- Topaloğlu, H.;
- Muntoni, F.;
- Houlston, R.
Publication type:
Article
Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression.
Published in:
Neuropathology & Applied Neurobiology, 2010, v. 36, n. 4, p. 265, doi. 10.1111/j.1365-2990.2009.01056.x
By:
- Arechavala-Gomeza, V.;
- Kinali, M.;
- Feng, L.;
- Brown, S. C.;
- Sewry, C.;
- Morgan, J. E.;
- Muntoni, F.
Publication type:
Article
Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions.
Published in:
Neuropathology & Applied Neurobiology, 2004, v. 30, n. 5, p. 540, doi. 10.1111/j.1365-2990.2004.00561.x
By:
- Torelli, S.;
- Brown, S. C.;
- Jimenez-Mallebrera, C.;
- Feng, L.;
- Muntoni, F.;
- Sewry, C. A.
Publication type:
Article
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.
Published in:
Neuropathology & Applied Neurobiology, 2001, v. 27, n. 4, p. 281, doi. 10.1046/j.0305-1846.2001.00323.x
By:
- Sewry, C. A.;
- Brown, S. C.;
- Mercuri, E.;
- Bonne, G.;
- Feng, L.;
- Camici, G.;
- Morris, G. E.;
- Muntoni, F.
Publication type:
Article
The abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related.
Published in:
Neuropathology & Applied Neurobiology, 1997, v. 23, n. 5, p. 399, doi. 10.1111/j.1365-2990.1997.tb01314.x
By:
- Taylor, J.;
- Muntoni, F.;
- Dubowitz, V.;
- Sewry, C. A.
Publication type:
Article
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.
Published in:
Brain: A Journal of Neurology, 2009, v. 132, n. 2, p. 439
By:
- M. R. Ackroyd;
- L. Skordis;
- M. Kaluarachchi;
- J. Godwin;
- S. Prior;
- M. Fidanboylu;
- R. J. Piercy;
- F. Muntoni;
- S. C. Brown
Publication type:
Article
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.
Published in:
Brain: A Journal of Neurology, 2009, v. 132, n. 1, p. 147, doi. 10.1093/brain/awn289
By:
- D. Hicks;
- A. K. Lampe;
- S. H. Laval;
- V. Allamand;
- C. Jimenez-Mallebrera;
- M. C. Walter;
- F. Muntoni;
- S. Quijano-Roy;
- P. Richard;
- V. Straub;
- H. Lochmüller;
- K. M. D. Bushby
Publication type:
Article
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
Published in:
2006
By:
- Muntoni F;
- Bonne G;
- Goldfarb LG;
- Mercuri E;
- Piercy RJ;
- Burke M;
- Yaou RB;
- Richard P;
- Récan D;
- Shatunov A;
- Sewry CA;
- Brown SC
Publication type:
Journal Article
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
Published in:
Brain: A Journal of Neurology, 2006, v. 129, n. 5, p. 1260, doi. 10.1093/brain/awl062
By:
- F. Muntoni;
- G. Bonne;
- L. G. Goldfarb;
- E. Mercuri;
- R. J. Piercy;
- M. Burke;
- R. Ben Yaou;
- P. Richard;
- D. Récan;
- A. Shatunov;
- C. A. Sewry;
- S. C. Brown
Publication type:
Article
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
Published in:
Brain: A Journal of Neurology, 2006, v. 129, n. 5, p. 1260, doi. 10.1093/brain/awl062
By:
- F. Muntoni;
- G. Bonne;
- L. G. Goldfarb;
- E. Mercuri;
- R. J. Piercy;
- M. Burke;
- R. Ben Yaou;
- P. Richard;
- D. Récan;
- A. Shatunov;
- C. A. Sewry;
- S. C. Brown
Publication type:
Article
Central core disease: new findings in an old disease.
Published in:
Brain: A Journal of Neurology, 2003, v. 126, n. 11, p. 2339, doi. 10.1093/brain/awg288
By:
- F. Muntoni;
- C. A. Sewry
Publication type:
Article
Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy.
Published in:
2000
By:
- Naom, I;
- D'alessandro, M;
- Sewry, C A;
- Jardine, P;
- Ferlini, A;
- Moss, T;
- Dubowitz, V;
- Muntoni, F
Publication type:
journal article
Reduced cytosolic acidification during exercise suggests defective glycolytic activity in skeletal muscle of patients with Becker muscular dystrophy. An in vivo 31P magnetic resonance spectroscopy study.
Published in:
Brain: A Journal of Neurology, 1999, v. 122, n. 1, p. 121, doi. 10.1093/brain/122.1.121
By:
- Lodi, R;
- Kemp, GJ;
- Muntoni, F;
- Thompson, CH;
- Rae, C;
- Taylor, J;
- Styles, P;
- Taylor, DJ
Publication type:
Article
Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.
Published in:
Brain: A Journal of Neurology, 1998, v. 121, n. 4, p. 581, doi. 10.1093/brain/121.4.581
By:
- Bushby, K;
- Anderson, LVB;
- Pollitt, C;
- Naom, I;
- Muntoni, F;
- Bindoff, L
Publication type:
Article
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.
Published in:
Brain: A Journal of Neurology, 1997, v. 120, n. 1, p. 47, doi. 10.1093/brain/120.1.47
By:
- Tyson, J;
- Ellis, D;
- Fairbrother, U;
- King, R H;
- Muntoni, F;
- Jacobs, J;
- Malcolm, S;
- Harding, A E;
- Thomas, P K
Publication type:
Article
Diagnosis of DMD carrier status in a family with no known affected males.
Published in:
1993
By:
- Muntoni, F.;
- Mateddu, A.;
- Cau, M.;
- Congiu, R.;
- Puddu, R.;
- Cossu, P.;
- Cao, A.;
- Melis, M. A.
Publication type:
journal article
Localization of laminin α2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study.
Published in:
Acta Neuropathologica, 1997, v. 94, n. 6, p. 567, doi. 10.1007/s004010050751
By:
- Villanova, M.;
- Malandrini, A.;
- Sabatelli, P.;
- Sewry, C. A.;
- Toti, P.;
- Torelli, S.;
- Six, J.;
- Scarfó, G.;
- Palma, L.;
- Muntoni, F.;
- Squarzoni, S.;
- Tosi, P.;
- Maraldi, N. M.;
- Guazzi, G. C.
Publication type:
Article
Nemaline myopathy caused by absence of alpha-skeletal muscle actin.
Published in:
2007
By:
- Nowak KJ;
- Sewry CA;
- Navarro C;
- Squier W;
- Reina C;
- Ricoy JR;
- Jayawant SS;
- Childs AM;
- Dobbie JA;
- Appleton RE;
- Mountford RC;
- Walker KR;
- Clement S;
- Barois A;
- Muntoni F;
- Romero NB;
- Laing NG
Publication type:
Journal Article
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
Published in:
2006
By:
- Godfrey C;
- Escolar D;
- Brockington M;
- Clement EM;
- Mein R;
- Jimenez-Mallebrera C;
- Torelli S;
- Feng L;
- Brown SC;
- Sewry CA;
- Rutherford M;
- Shapira Y;
- Abbs S;
- Muntoni F;
- Godfrey, Caroline;
- Escolar, Diana;
- Brockington, Martin;
- Clement, Emma M;
- Mein, Rachael;
- Jimenez-Mallebrera, Cecilia
Publication type:
journal article
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
Published in:
2004
By:
- Poppe M;
- Bourke J;
- Eagle M;
- Frosk P;
- Wrogemann K;
- Greenberg C;
- Muntoni F;
- Voit T;
- Straub V;
- Hilton-Jones D;
- Shirodaria C;
- Bushby K
Publication type:
Journal Article
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
Published in:
2003
By:
- Grohmann K;
- Varon R;
- Stolz P;
- Schuelke M;
- Janetzki C;
- Bertini E;
- Bushby K;
- Muntoni F;
- Ouvrier R;
- Van Maldergem L;
- Goemans NML;
- Lochmüller H;
- Eichholz S;
- Adams C;
- Bosch F;
- Grattan-Smith P;
- Navarro C;
- Neitzel H;
- Polster T;
- Topaloglu H
Publication type:
Journal Article
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
Published in:
Journal of Neurology, 2012, v. 259, n. 8, p. 1673, doi. 10.1007/s00415-011-6397-y
By:
- Davidson, G.;
- Murphy, S.;
- Polke, J.;
- Laura, M.;
- Salih, M.;
- Muntoni, F.;
- Blake, J.;
- Brandner, S.;
- Davies, N.;
- Horvath, R.;
- Price, S.;
- Donaghy, M.;
- Roberts, M.;
- Foulds, N.;
- Ramdharry, G.;
- Soler, D.;
- Lunn, M.;
- Manji, H.;
- Davis, M.;
- Houlden, H.
Publication type:
Article
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2005, v. 28, n. 4, p. 533, doi. 10.1007/s10545-005-0533-8
By:
- Olpin, S.;
- Clark, S.;
- Andresen, B.;
- Bischoff, C.;
- Olsen, R.;
- Gregersen, N.;
- Chakrapani, A.;
- Downing, M.;
- Manning, N.;
- Sharrard, M.;
- Bonham, J.;
- Muntoni, F.;
- Turnbull, D.;
- Pourfarzam, M.
Publication type:
Article
OCTN2 mutation (R254X) found in Saudi Arabian kindred: Recurrent mutation or ancient founder mutation?
Published in:
Journal of Inherited Metabolic Disease, 2004, v. 27, n. 4, p. 473, doi. 10.1023/B:BOLI.0000037339.25821.87
By:
- Lamhonwah, A.-M.;
- Onizuka, R.;
- Olpin, S.;
- Muntoni, F.;
- Tein, I.
Publication type:
Article
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 543, doi. 10.1023/A:1025947930752
By:
- Olpin, S.;
- Afifi, A.;
- Clark, S.;
- Manning, N.;
- Bonham, J.;
- Dalton, A.;
- Leonard, J.;
- Land, J.;
- Andresen, B.;
- Morris, A.;
- Muntoni, F.;
- Turnbull, D.;
- Pourfarzam, M.;
- Rahman, S.;
- Pollitt, R.
Publication type:
Article
Dystrophin immunoreactivity in normal and duchenne human fetal neurons in culture.
Published in:
Journal of Neuroscience Research, 1992, v. 32, n. 1, p. 116, doi. 10.1002/jnr.490320114
By:
- Torelli, S.;
- Sogos, V.;
- Ennas, M. G.;
- Muntoni, F.;
- Clerk, A.;
- Strong, P. N.;
- Gremo, F.
Publication type:
Article
Congenital muscular dystrophy: molecular and cellular aspects.
Published in:
Cellular & Molecular Life Sciences, 2005, v. 62, n. 7/8, p. 809, doi. 10.1007/s00018-004-4510-4
By:
- Jimenez-Mallebrera, C.;
- Brown, S. C.;
- Sewry, C. A.;
- Muntoni, F.
Publication type:
Article
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
Published in:
Human Mutation, 2008, v. 29, n. 6, p. 809, doi. 10.1002/humu.20704
By:
- Lampe, A.K.;
- Zou, Y.;
- Sudano, D.;
- O'Brien, K.K.;
- Hicks, D.;
- Laval, S.H.;
- Charlton, R.;
- Jimenez-Mallebrera, C.;
- Zhang, R.-Z.;
- Finkel, R.S.;
- Tennekoon, G.;
- Schreiber, G.;
- van der Knaap, M.S.;
- Marks, H.;
- Straub, V.;
- Flanigan, K.M.;
- Chu, M.-L.;
- Muntoni, F.;
- Bushby, K.M.D.;
- Bönnemann, C.G.
Publication type:
Article
D.4 Safety and efficacy of delandistrogene moxeparvovec versus placebo in Duchenne muscular dystrophy (EMBARK): Pivotal Phase 3 primary results.
Published in:
2024
By:
- Mendell, JR;
- Muntoni, F;
- McDonald, CM;
- Mercuri, EM;
- Ciafaloni, E;
- Komaki, H;
- Leon-Astudillo, C;
- Nascimento, A;
- Proud, C;
- Schara-Schmidt, U;
- Veerapandiyan, A;
- Zaidman, CM;
- Guridi, M;
- Murphy, AP;
- Reid, C;
- Wandel, C;
- Darton, E;
- Mason, S;
- Potter, RA;
- Singh, T
Publication type:
Abstract
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 5, p. 855, doi. 10.1093/hmg/7.5.855
By:
- Manilal, S.;
- Recan, D.;
- Sewry, C. A.;
- Hoeltzenbein, M.;
- Llense, S.;
- Leturcq, F.;
- Deburgrave, N.;
- Barbot, J.‐C.;
- Man, Nguyen thi;
- Muntoni, F.;
- Wehnert, M.;
- Kaplan, J.‐C.;
- Morris, G. E.
Publication type:
Article
Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy.
Published in:
Child: Care, Health & Development, 2013, v. 39, n. 3, p. 449, doi. 10.1111/j.1365-2214.2012.01387.x
By:
- Garralda, M. E.;
- McConachie, H.;
- Le Couteur, A.;
- Sriranjan, S.;
- Chakrabarti, I.;
- Cirak, S.;
- Guglieri, M.;
- Bushby, K.;
- Muntoni, F.
Publication type:
Article

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