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Martin Brockington

Research Profile

Disorders

Muscular Dystrophies

Chemicals & Drugs

Anatomy

Physiology

Concepts & Ideas

Phenomena

Glycosylation

Procedures

Living Beings

Infants

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Publications

TOP 3
Emma M Clement; Caroline Godfrey; Jenny Tan; Martin Brockington; Silvia Torelli; Lucy Feng; Susan C Brown; Cecilia Jimenez-Mallebrera; Caroline A Sewry; Cheryl Longman; Rachael Mein; Stephen Abbs; Jiri Vajsar; Harry Schachter; Francesco Muntoni
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Francesco Muntoni; Martin Brockington; C Godfrey; M Ackroyd; Stephanie Robb; Adnan Y Manzur; Maria Kinali; Eugenio Mercuri; M Kaluarachchi; Lucy Feng; Cecilia Jimenez-Mallebrera; E Clement; Silvia Torelli; Caroline A Sewry; Susan C Brown
Muscular dystrophies due to defective glycosylation of dystroglycan.
Caroline Godfrey; Emma Clement; Rachael Mein; Martin Brockington; Janine Smith; Beril Talim; Volker Straub; Stephanie Robb; Ros Quinlivan; Lucy Feng; Cecilia Jimenez-Mallebrera; Eugenio Mercuri; Adnan Y Manzur; Maria Kinali; Silvia Torelli; Susan C Brown; Caroline A Sewry; Kate Bushby; Haluk Topaloglu; Kathryn North; Stephen Abbs; Francesco Muntoni
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

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All Publications

2008: Emma M Clement; Caroline Godfrey; Jenny Tan; Martin Brockington; Silvia Torelli; Lucy Feng; Susan C Brown; Cecilia Jimenez-Mallebrera; Caroline A Sewry; Cheryl Longman; Rachael Mein; Stephen Abbs; Jiri Vajsar; Harry Schachter; Francesco Muntoni
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Archives of neurology 2008;65(1):137-41.
2007: Francesco Muntoni; Martin Brockington; C Godfrey; M Ackroyd; Stephanie Robb; Adnan Y Manzur; Maria Kinali; Eugenio Mercuri; M Kaluarachchi; Lucy Feng; Cecilia Jimenez-Mallebrera; E Clement; Silvia Torelli; Caroline A Sewry; Susan C Brown
Muscular dystrophies due to defective glycosylation of dystroglycan.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2007;26(3):129-35.
2007: Caroline Godfrey; Emma Clement; Rachael Mein; Martin Brockington; Janine Smith; Beril Talim; Volker Straub; Stephanie Robb; Ros Quinlivan; Lucy Feng; Cecilia Jimenez-Mallebrera; Eugenio Mercuri; Adnan Y Manzur; Maria Kinali; Silvia Torelli; Susan C Brown; Caroline A Sewry; Kate Bushby; Haluk Topaloglu; Kathryn North; Stephen Abbs; Francesco Muntoni
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Brain : a journal of neurology 2007;130(Pt 10):2725-35.
2007: Haiyan Zhou; Heinz Jungbluth; Caroline A Sewry; Lucy Feng; Enrico Bertini; Kate Bushby; Volker Straub; Helen Roper; Michael R Rose; Martin Brockington; Maria Kinali; Adnan Y Manzur; Stephanie Robb; Richard E Appleton; Sonia Messina; Adele D'Amico; Ros Quinlivan; Michael Swash; Clemens R Müller; Susan Brown; Susan Treves; Francesco Muntoni
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Brain : a journal of neurology 2007;130(Pt 8):2024-36.
2006: Caroline Godfrey; Diana Escolar; Martin Brockington; Emma M Clement; Rachael Mein; Cecilia Jimenez-Mallebrera; Silvia Torelli; Lucy Feng; Susan C Brown; Caroline A Sewry; Mary Rutherford; Yehuda Shapira; Stephen Abbs; Francesco Muntoni
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
Annals of neurology 2006;60(5):603-10.
2006: Haiyan Zhou; Martin Brockington; Heinz Jungbluth; David Monk; Philip Stanier; Caroline A Sewry; Gudrun E Moore; Francesco Muntoni
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
American journal of human genetics 2006;79(5):859-68.
2006: Eugenio Mercuri; Haluk Topaloglu; Martin Brockington; Angela Berardinelli; Anna Pichiecchio; Filippo M Santorelli; Mary Rutherford; Beril Talim; Enzo Ricci; Thomas Voit; Francesco Muntoni
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.
Archives of neurology 2006;63(2):251-7.
2005: Heinz Jungbluth; Haiyan Zhou; L Hartley; Birgit Halliger-Keller; Sonia Messina; Cheryl Longman; Martin Brockington; Stephanie Robb; Volker Straub; Thomas Voit; Michael Swash; Ana Ferreiro; Graeme M Bydder; Caroline A Sewry; C Müller; Francesco Muntoni
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
Neurology 2005;65(12):1930-5.
2005: Martin Brockington; Francesco Muntoni
The modulation of skeletal muscle glycosylation as a potential therapeutic intervention in muscular dystrophies.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2005;24(3):217-21.
2005: Silvia Torelli; Susan C Brown; Martin Brockington; Nazanin F Dolatshad; Cecilia Jimenez; Leigh Skordis; Lucy H Feng; Luciano Merlini; David Hilton Jones; Norma B Romero; Ulla M Wewer; Thomas Voit; Caroline A Sewry; Satoru Noguchi; Ichizo Nishino; Francesco Muntoni
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.
Neuromuscular disorders : NMD 2005;15(12):836-43.
2005: Jan Senderek; Michael Krieger; Claudia Stendel; Carsten Bergmann; Markus Moser; Nico Breitbach-Faller; Sabine Rudnik-Schöneborn; Astrid Blaschek; Nicole I Wolf; Inga Harting; Kathryn North; Janine Smith; Francesco Muntoni; Martin Brockington; Susana Quijano-Roy; Francis Renault; Ralf Herrmann; Linda M Hendershot; J Michael Schröder; Hanns Lochmüller; Haluk Topaloglu; Thomas Voit; Joachim Weis; Friedrich Ebinger; Klaus Zerres
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Nature genetics 2005;37(12):1312-4.
2005: Jeroen van Reeuwijk; M Janssen; Christa van den Elzen; D Beltran-Valero de Bernabé; Patrizia Sabatelli; Luciano Merlini; M Boon; Hans Scheffer; Martin Brockington; F Muntoni; M A Huynen; Aad Verrips; Christopher Walsh; P G Barth; Han G Brunner; Hans van Bokhoven
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
Journal of medical genetics 2005;42(12):907-12.
2005: Mariz Vainzof; Pascale Richard; Ralf Herrmann; Cecilia Jimenez-Mallebrera; Beril Talim; Lydia U Yamamoto; Céline Ledeuil; Rachael Mein; Stephen Abbs; Martin Brockington; Norma B Romero; Mayana Zatz; Haluk Topaloglu; Thomas Voit; Caroline Sewry; Francesco Muntoni; Pascale Guicheney; Fernando M S Tomé
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
Neuromuscular disorders : NMD 2005;15(9-10):588-94.
2005: Nazanin F Dolatshad; Martin Brockington; Silvia Torelli; L Skordis; U Wever; Dominic J Wells; Francesco Muntoni; Susan C Brown
Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells.
Experimental cell research 2005;309(2):370-8.
2005: Gabrielle Sellick; Cheryl Longman; Martin Brockington; Ibrahim Mahjneh; L Sagi; Kate Bushby; H Topaloğlu; Francesco Muntoni; richard Houlston
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3.
Human genetics 2005;117(2-3):207-12.
2005: Martin Brockington; Silvia Torelli; Paola Prandini; Chiara A Boito; Nazanin F Dolatshad; Cheryl Longman; Susan C Brown; Francesco Muntoni
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
Human molecular genetics 2005;14(5):657-65.
2004: Eugenio Mercuri; Anne Lampe; Volker Straub; Yeliz Yuva; Cheryl Longman; M Wright; Sue Brown; Caroline Sewry; Carsten Bonnemann; Maria Kinali; Martin Brockington; I Hausser; David Hilton-Jones; Thomas Voit; Kate Bushby; Francesco Muntoni
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.
Neuropediatrics 2004;35(4):224-9.
2004: Cheryl Longman; Eugenio Mercuri; Frances M Cowan; Joanna M Allsop; Martin Brockington; Cecilia Jimenez-Mallebrera; Sailesh Kumar; Mary Rutherford; Tatsushi Toda; Francesco Muntoni
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.
Archives of neurology 2004;61(8):1301-6.
2004: Martin Brockington; Susan C Brown; Anne Lampe; Yeliz Yuva; Lucy Feng; Cecilia Jimenez-Mallebrera; Caroline A Sewry; Kevin M Flanigan; Kate Bushby; Francesco Muntoni
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.
Prenatal diagnosis 2004;24(6):440-4.
2004: D Beltran-Valero de Bernabé; Thomas Voit; Cheryl Longman; Alice Steinbrecher; Volker Straub; Yeliz Yuva; Ralf Herrmann; J Sperner; C Korenke; Charlotta Diesen; William B Dobyns; H G Brunner; H van Bokhoven; Martin Brockington; Francesco Muntoni
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Journal of medical genetics 2004;41(5):e61.
2004: Francesco Muntoni; Martin Brockington; Silvia Torelli; Susan C Brown
Defective glycosylation in congenital muscular dystrophies.
Current opinion in neurology 2004;17(2):205-9.
2004: Susan C Brown; Silvia Torelli; Martin Brockington; Yeliz Yuva; Cecilia Jimenez; Lucy Feng; Louise Anderson; Isabella Ugo; Stephan Kroger; Kate Bushby; Thomas Voit; Caroline Sewry; Francesco Muntoni
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.
The American journal of pathology 2004;164(2):727-37.
2003: Pervin Dinçer; Burcu Balci; Yeliz Yuva; Beril Talim; Martin Brockington; Deniz Dinçel; Silvia Torelli; Sue Brown; Gülsev Kale; Göknur Haliloglu; Filiz Ozbas Gerçeker; Rengul Cetin-Atalay; Cengiz Yakicier; Cheryl Longman; Francesco Muntoni; Haluk Topaloglu
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
Neuromuscular disorders : NMD 2003;13(10):771-8.
2003: Cheryl Longman; Martin Brockington; Silvia Torelli; Cecilia Jimenez-Mallebrera; Colin Kennedy; Nofal Khalil; Lucy Feng; Ravindra K Saran; Thomas Voit; Luciano Merlini; Caroline A Sewry; Susan C Brown; Francesco Muntoni
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Human molecular genetics 2003;12(21):2853-61.
2003: Francesco Muntoni; B Valero de Bernabe; R Bittner; D Blake; H van Bokhoven; Martin Brockington; S Brown; Kate Bushby; Kevin P Campbell; M Fiszman; S Gruenewald; Luciano Merlini; Susana Quijano-Roy; Norma B Romero; Patrizia Sabatelli; Caroline A Sewry; Volker Straub; Beril Talim; Haluk Topaloglu; Thomas Voit; Peter D Yurchenco; J Andoni Urtizberea; Ulla M Wewer; Pascale Guicheney
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).
Neuromuscular disorders : NMD 2003;13(7-8):579-88.
2003: Eugenio Mercuri; Claudio Cini; Anna Pichiecchio; Joanna M Allsop; Serena J Counsell; Zarazuela Zolkipli; Sonia Messina; Maria Kinali; Susan C Brown; Cecilia Jimenez; Martin Brockington; Yeliz Yuva; Caroline A Sewry; Francesco Muntoni
Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype.
Neuromuscular disorders : NMD 2003;13(7-8):554-8.
2003: Maja Poppe; Lynsey M Cree; John Bourke; Michelle Eagle; Louise V B Anderson; Daniel Birchall; Martin Brockington; MR Buddles; M Busby; Francesco Muntoni; A Wills; Kate Bushby
The phenotype of limb-girdle muscular dystrophy type 2I.
Neurology 2003;60(8):1246-51.
2003: Eugenio Mercuri; Martin Brockington; Volker Straub; Susana Quijano-Roy; Yeliz Yuva; Ralf Herrmann; Susan C Brown; Silvia Torelli; Victor Dubowitz; Derek J Blake; Norma B Romero; Brigitte Estournet; Caroline A Sewry; Pascale Guicheney; Thomas Voit; Francesco Muntoni
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Annals of neurology 2003;53(4):537-42.
2003: Haluk Topaloglu; Martin Brockington; Yeliz Yuva; Beril Talim; Göknur Haliloglu; D Blake; Silvia Torelli; Susan C Brown; Francesco Muntoni
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
Neurology 2003;60(6):988-92.
2003: Cecilia Jiménez-Mallebrera; Silvia Torelli; Susan C Brown; Lucy Feng; Martin Brockington; Caroline A Sewry; Daniel Beltrán-Valero de Bernabé; Francesco Muntoni
Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(3):129-37.
2002: Christopher T Esapa; Matthew A Benson; Jörn E Schröder; Enca Martin-Rendon; Martin Brockington; Susan C Brown; Francesco Muntoni; Stephan Kröger; Derek J Blake
Functional requirements for fukutin-related protein in the Golgi apparatus.
Human molecular genetics 2002;11(26):3319-31.
2002: Francesco Muntoni; Martin Brockington; Derek J Blake; Silvia Torelli; Susan C Brown
Defective glycosylation in muscular dystrophy.
Lancet 2002;360(9343):1419-21.
2002: Francesco Muntoni; Enrico Bertini; Carsten G Bönnemann; Martin Brockington; S Brown; Kate Bushby; M Fiszman; C Körner; Eugenio Mercuri; Luciano Merlini; J Hewitt; Susana Quijano-Roy; Norma B Romero; Stefano Squarzoni; Caroline A Sewry; Volker Straub; Haluk Topaloglu; Göknur Haliloglu; Thomas Voit; Ulla M Wewer; Pascale Guicheney
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(9):889-96.
2002: Eugenio Mercuri; Beril Talim; Behzad Moghadaszadeh; Nathalie Petit; Martin Brockington; Serena Counsell; Pascale Guicheney; Francesco Muntoni; Luciano Merlini
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).
Neuromuscular disorders : NMD 2002;12(7-8):631-8.
2002: Heinz Jungbluth; Clemens R Müller; Birgit Halliger-Keller; Martin Brockington; S C Brown; Lucy Feng; Arijit Chattopadhyay; Eugenio Mercuri; Adnan Y Manzur; Ana Ferreiro; Nigel G Laing; Mark R Davis; Helen Roper; Victor Dubowitz; Graeme M Bydder; Caroline A Sewry; Francesco Muntoni
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
Neurology 2002;59(2):284-7.
2002: Eugenio Mercuri; Yeliz Yuva; Susan C Brown; Martin Brockington; Maria Kinali; Heinz Jungbluth; Lucy Feng; Caroline A Sewry; Francesco Muntoni
Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study.
Neurology 2002;58(9):1354-9.
2002: Martin Brockington; Derek J Blake; Susan C Brown; Francesco Muntoni
The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I.
Neuromuscular disorders : NMD 2002;12(3):233-4.
2001: Martin Brockington; Yeliz Yuva; Paola Prandini; Susan C Brown; Silvia Torelli; Matthew A Benson; Ralf Herrmann; Louise V B Anderson; Rumaisa Bashir; Jean-Marc Burgunder; S Fallet; Norma B Romero; M Fardeau; Volker Straub; G Storey; C Pollitt; Isabelle Richard; Caroline A Sewry; Kate Bushby; Thomas Voit; Derek J Blake; Francesco Muntoni
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
Human molecular genetics 2001;10(25):2851-9.
2001: Martin Brockington; Derek J Blake; Paola Prandini; Susan C Brown; Silvia Torelli; Matthew A Benson; Chris P Ponting; Brigitte Estournet; Norma B Romero; Eugenio Mercuri; Thomas Voit; Caroline A Sewry; Pascale Guicheney; Francesco Muntoni
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
American journal of human genetics 2001;69(6):1198-209.
2001: Behzad Moghadaszadeh; Nathalie Petit; C Jaillard; Martin Brockington; S Quijano Roy; Luciano Merlini; Norma B Romero; Brigitte Estournet; Isabelle Desguerre; D Chaigne; Francesco Muntoni; Haluk Topaloglu; Pascale Guicheney
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Nature genetics 2001;29(1):17-8.
2000: Marcello Villanova; Eugenio Mercuri; Enrico Bertini; Patrizia Sabatelli; Lucia Morandi; M Mora; Caroline Sewry; Martin Brockington; S C Brown; Ana Ferreiro; N M Maraldi; T Toda; Pascale Guicheney; Luciano Merlini; F Muntoni
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.
Neuromuscular disorders : NMD 2000;10(8):541-7.
2000: Eugenio Mercuri; Caroline A Sewry; Susan C Brown; Martin Brockington; Heinz Jungbluth; C DeVile; Serena J Counsell; Adnan Y Manzur; Francesco Muntoni
Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?
Neuropediatrics 2000;31(4):186-9.
2000: Martin Brockington; Caroline A Sewry; R Herrmann; IS Naom; Andrew Dearlove; M Rhodes; Haluk Topaloglu; Victor Dubowitz; T Voit; Francesco Muntoni
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.
American journal of human genetics 2000;66(2):428-35.
1999: Ibrahim Mahjneh; Kate Bushby; L Anderson; Francesco Muntoni; H Tolvanen-Mahjneh; Rumaisa Bashir; Assunta Pizzi; Martin Brockington; Giampiero Marconi
Merosin-positive congenital muscular dystrophy: a large inbred family.
Neuropediatrics 1999;30(1):22-8.