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Martin Brockington
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41
Muntoni, Francesco
21
Sewry, Caroline
21
Brown, Susan
17
Torelli, Silvia
14
Voit, Thomas
14
Mercuri, Eugenio
11
Bushby, Kate
10
Feng, Lucy
10
Yuva, Yeliz
10
Topaloglu, Haluk
9
Straub, Volker
9
Longman, Cheryl
8
Guicheney, Pascale
8
Jimenez-Mallebrera, Cecilia
8
Romero, Norma
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Geonetwork of Martin Brockington (preview)
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All Publications
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2008: Clement Emma M; Godfrey Caroline; Tan Jenny; Brockington Martin; Torelli Silvia; Feng Lucy; Brown Susan C; Jimenez-Mallebrera Cecilia; Sewry Caroline A; Longman Cheryl; Mein Rachael; Abbs Steve; Vajsar Jiri; Schachter Harry; Muntoni Francesco
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Archives of neurology 2008;65(1):137-41.
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2007: Muntoni F; Brockington M; Godfrey C; Ackroyd M; Robb S; Manzur A; Kinali M; Mercuri E; Kaluarachchi M; Feng L; Jimenez-Mallebrera C; Clement E; Torelli S; Sewry C A; Brown S C
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.
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2007: Godfrey Caroline; Clement Emma; Mein Rachael; Brockington Martin; Smith Janine; Talim Beril; Straub Volker; Robb Stephanie; Quinlivan Ros; Feng Lucy; Jimenez-Mallebrera Cecilia; Mercuri Eugenio; Manzur Adnan Y; Kinali Maria; Torelli Silvia; Brown Susan C; Sewry Caroline A; Bushby Kate; Topaloglu Haluk; North Kathryn; Abbs Stephen; Muntoni Francesco
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Brain : a journal of neurology 2007;130(Pt 10):2725-35.
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2007: Zhou Haiyan; Jungbluth Heinz; Sewry Caroline A; Feng Lucy; Bertini Enrico; Bushby Kate; Straub Volker; Roper Helen; Rose Michael R; Brockington Martin; Kinali Maria; Manzur Adnan; Robb Stephanie; Appleton Richard; Messina Sonia; D'Amico Adele; Quinlivan Ros; Swash Michael; Müller Clemens R; Brown Susan; Treves Susan; Muntoni Francesco
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Brain : a journal of neurology 2007;130(Pt 8):2024-36.
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2006: Godfrey Caroline; Escolar Diana; Brockington Martin; Clement Emma M; Mein Rachael; Jimenez-Mallebrera Cecilia; Torelli Silvia; Feng Lucy; Brown Susan C; Sewry Caroline A; Rutherford Mary; Shapira Yehuda; Abbs Stephen; Muntoni Francesco
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
Annals of neurology 2006;60(5):603-10.
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2006: Zhou Haiyan; Brockington Martin; Jungbluth Heinz; Monk David; Stanier Philip; Sewry Caroline A; Moore Gudrun E; Muntoni Francesco
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
American journal of human genetics 2006;79(5):859-68.
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2006: Mercuri Eugenio; Topaloglu Haluk; Brockington Martin; Berardinelli Angela; Pichiecchio Anna; Santorelli Filippo; Rutherford Mary; Talim Beril; Ricci Enzo; Voit Thomas; Muntoni Francesco
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.
Archives of neurology 2006;63(2):251-7.
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2005: Brockington M; Muntoni F
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.
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2005: Jungbluth H; Zhou H; Hartley L; Halliger-Keller B; Messina S; Longman C; Brockington M; Robb S A; Straub V; Voit T; Swash M; Ferreiro A; Bydder G; Sewry C A; Müller C; Muntoni F
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
Neurology 2005;65(12):1930-5.
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2005: Torelli Silvia; Brown Susan C; Brockington Martin; Dolatshad Nazanin F; Jimenez Cecilia; Skordis Leigh; Feng Lucy H; Merlini Luciano; Jones David Hilton; Romero Norma; Wewer Ulla; Voit Thomas; Sewry Caroline A; Noguchi Satoru; Nishino Ichizo; Muntoni Francesco
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.
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2005: Senderek Jan; Krieger Michael; Stendel Claudia; Bergmann Carsten; Moser Markus; Breitbach-Faller Nico; Rudnik-Schöneborn Sabine; Blaschek Astrid; Wolf Nicole I; Harting Inga; North Kathryn; Smith Janine; Muntoni Francesco; Brockington Martin; Quijano-Roy Susana; Renault Francis; Herrmann Ralf; Hendershot Linda M; Schröder J Michael; Lochmüller Hanns; Topaloglu Haluk; Voit Thomas; Weis Joachim; Ebinger Friedrich; Zerres Klaus
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Nature genetics 2005;37(12):1312-4.
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2005: van Reeuwijk J; Janssen M; van den Elzen C; Beltran-Valero de Bernabé D; Sabatelli P; Merlini L; Boon M; Scheffer H; Brockington M; Muntoni F; Huynen M A; Verrips A; Walsh C A; Barth P G; Brunner H G; van Bokhoven H
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
Journal of medical genetics 2005;42(12):907-12.
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2005: Vainzof Mariz; Richard Pascale; Herrmann Ralf; Jimenez-Mallebrera Cecilia; Talim Beril; Yamamoto Lydia U; Ledeuil Céline; Mein Rachael; Abbs Stephen; Brockington Martin; Romero Norma B; Zatz Mayana; Topaloglu Haluk; Voit Thomas; Sewry Caroline; Muntoni Francesco; Guicheney Pascale; Tomé Fernando M S
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.
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2005: Dolatshad N F; Brockington M; Torelli S; Skordis L; Wever U; Wells D J; Muntoni F; Brown S C
Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells.
Experimental cell research 2005;309(2):370-8.
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2005: Sellick G S; Longman C; Brockington M; Mahjneh I; Sagi L; Bushby K; Topaloglu H; Muntoni F; Houlston R S
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3.
Human genetics 2005;117(2-3):207-12.
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2005: Brockington Martin; Torelli Silvia; Prandini Paola; Boito Chiara; Dolatshad Nazanin F; Longman Cheryl; Brown Susan C; Muntoni Francesco
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
Human molecular genetics 2005;14(5):657-65.
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2004: Mercuri E; Lampe A; Straub V; Yuva Y; Longman C; Wright M; Brown S; Sewry C; Bonnemann C; Kinali M; Brockington M; Hausser I; Hilton Jones D; Voit T; Bushby K; Muntoni F
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.
Neuropediatrics 2004;35(4):224-9.
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2004: Longman Cheryl; Mercuri Eugenio; Cowan Frances; Allsop Joanna; Brockington Martin; Jimenez-Mallebrera Cecilia; Kumar Sailesh; Rutherford Mary; Toda Tatsushi; Muntoni Francesco
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.
Archives of neurology 2004;61(8):1301-6.
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2004: Brockington Martin; Brown Susan C; Lampe Anne; Yuva Yeliz; Feng Lucy; Jimenez-Mallebrera Cecilia; Sewry Caroline A; Flanigan Kevin M; Bushby Kate; Muntoni Francesco
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.
Prenatal diagnosis 2004;24(6):440-4.
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2004: Beltran-Valero de Bernabé D; Voit T; Longman C; Steinbrecher A; Straub V; Yuva Y; Herrmann R; Sperner J; Korenke C; Diesen C; Dobyns W B; Brunner H G; van Bokhoven H; Brockington M; Muntoni F
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Journal of medical genetics 2004;41(5):e61.
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2004: Muntoni Francesco; Brockington Martin; Torelli Silvia; Brown Susan C
Defective glycosylation in congenital muscular dystrophies.
Current opinion in neurology 2004;17(2):205-9.
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2004: Brown Susan C; Torelli Silvia; Brockington Martin; Yuva Yeliz; Jimenez Cecilia; Feng Lucy; Anderson Louise; Ugo Isabella; Kroger Stephan; Bushby Kate; Voit Thomas; Sewry Caroline; Muntoni Francesco
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.
The American journal of pathology 2004;164(2):727-37.
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2003: Dinçer Pervin; Balci Burcu; Yuva Yeliz; Talim Beril; Brockington Martin; Dinçel Deniz; Torelli Silvia; Brown Sue; Kale Gülsev; Haliloglu Göknur; Gerçeker Filiz Ozbas; Atalay Rengül Cetin; Yakicier Cengiz; Longman Cheryl; Muntoni Francesco; Topaloglu Haluk
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.
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2003: 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
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.
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2003: Muntoni F; Valero de Bernabe B; Bittner R; Blake D; van Bokhoven H; Brockington M; Brown S; Bushby K; Campbell K P; Fiszman M; Gruenewald S; Merlini L; Quijano-Roy S; Romero N; Sabatelli P; Sewry C A; Straub V; Talim B; Topaloglu H; Voit T; Yurchenco P D; Urtizberea J A; Wewer U M; Guicheney P
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.
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2003: Mercuri E; Cini C; Pichiecchio A; Allsop J; Counsell S; Zolkipli Z; Messina S; Kinali M; Brown S C; Jimenez C; Brockington M; Yuva Y; Sewry C A; Muntoni F
Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype.
Neuromuscular disorders : NMD 2003;13(7-8):554-8.
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2003: Poppe M; Cree L; Bourke J; Eagle M; Anderson L V B; Birchall D; Brockington M; Buddles M; Busby M; Muntoni F; Wills A; Bushby K
The phenotype of limb-girdle muscular dystrophy type 2I.
Neurology 2003;60(8):1246-51.
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2003: Mercuri Eugenio; Brockington Martin; Straub Volker; Quijano-Roy Susana; Yuva Yeliz; Herrmann Ralf; Brown Susan C; Torelli Silvia; Dubowitz Victor; Blake Derek J; Romero Norma B; Estournet Brigitte; Sewry Caroline A; Guicheney Pascale; Voit Thomas; Muntoni Francesco
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Annals of neurology 2003;53(4):537-42.
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2003: Topaloglu H; Brockington M; Yuva Y; Talim B; Haliloglu G; Blake D; Torelli S; Brown S C; Muntoni F
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
Neurology 2003;60(6):988-92.
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2003: Jiménez-Mallebrera Cecilia; Torelli Silvia; Brown Susan C; Feng Lucy; Brockington Martin; Sewry Caroline A; Beltrán-Valero De Bernabé Daniel; Muntoni Francesco
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.
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2002: Esapa Chris T; Benson Matthew A; Schröder Jörn E; Martin-Rendon Enca; Brockington Martin; Brown Susan C; Muntoni Francesco; Kröger Stephan; Blake Derek J
Functional requirements for fukutin-related protein in the Golgi apparatus.
Human molecular genetics 2002;11(26):3319-31.
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2002: Muntoni Francesco; Brockington Martin; Blake Derek J; Torelli Silvia; Brown Susan C
Defective glycosylation in muscular dystrophy.
Lancet 2002;360(9343):1419-21.
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2002: Muntoni F; Bertini E; Bönnemann C; Brockington M; Brown S; Bushby K; Fiszman M; Körner C; Mercuri E; Merlini L; Hewitt J; Quijano-Roy S; Romero N; Squarzoni S; Sewry C A; Straub V; Topaloglu H; Haliloglu G; Voit T; Wewer U; Guicheney P
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.
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2002: Mercuri Eugenio; Talim Beril; Moghadaszadeh Behzad; Petit Nathalie; Brockington Martin; Counsell Serena; Guicheney Pascale; Muntoni Francesco; Merlini Luciano
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.
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2002: Jungbluth H; Müller C R; Halliger-Keller B; Brockington M; Brown S C; Feng L; Chattopadhyay A; Mercuri E; Manzur A Y; Ferreiro A; Laing N G; Davis M R; Roper H P; Dubowitz V; Bydder G; Sewry C A; Muntoni F
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
Neurology 2002;59(2):284-7.
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2002: Mercuri E; Yuva Y; Brown S C; Brockington M; Kinali M; Jungbluth H; Feng L; Sewry C A; Muntoni F
Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study.
Neurology 2002;58(9):1354-9.
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2002: Brockington Martin; Blake Derek J; Brown Susan C; Muntoni Francesco
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.
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2001: Brockington M; Yuva Y; Prandini P; Brown S C; Torelli S; Benson M A; Herrmann R; Anderson L V; Bashir R; Burgunder J M; Fallet S; Romero N; Fardeau M; Straub V; Storey G; Pollitt C; Richard I; Sewry C A; Bushby K; Voit T; Blake D J; Muntoni F
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.
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2001: Brockington M; Blake D J; Prandini P; Brown S C; Torelli S; Benson M A; Ponting C P; Estournet B; Romero N B; Mercuri E; Voit T; Sewry C A; Guicheney P; Muntoni F
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.
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2001: Moghadaszadeh B; Petit N; Jaillard C; Brockington M; Roy S Q; Merlini L; Romero N; Estournet B; Desguerre I; Chaigne D; Muntoni F; Topaloglu H; Guicheney P
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Nature genetics 2001;29(1):17-8.
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2000: Villanova M; Mercuri E; Bertini E; Sabatelli P; Morandi L; Mora M; Sewry C; Brockington M; Brown S C; Ferreiro A; Maraldi N M; Toda T; Guicheney P; Merlini L; Muntoni F
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.
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2000: Mercuri E; Sewry C A; Brown S C; Brockington M; Jungbluth H; DeVile C; Counsell S; Manzur A; Muntoni F
Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?
Neuropediatrics 2000;31(4):186-9.
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2000: Brockington M; Sewry C A; Herrmann R; Naom I; Dearlove A; Rhodes M; Topaloglu H; Dubowitz V; Voit T; Muntoni F
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.
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1999: Mahjneh I; Bushby K; Anderson L; Muntoni F; Tolvanen-Mahjneh H; Bashir R; Pizzi A; Brockington M; Marconi G
Merosin-positive congenital muscular dystrophy: a large inbred family.
Neuropediatrics 1999;30(1):22-8.
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