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Caroline Sewry
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54
Muntoni, Francesco
21
Brockington, Martin
20
Brown, Susan
16
Mercuri, Eugenio
15
Dubowitz, Victor
15
Jungbluth, Heinz
13
Manzur, Adnan
12
Jimenez-Mallebrera, Cecilia
11
Feng, Lucy
11
Torelli, Silvia
8
Voit, Thomas
8
Romero, Norma
8
Kinali, Maria
7
Bushby, Kate
7
Straub, Volker
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All Publications
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2009: Jimenez-Mallebrera Cecilia; Torelli Silvia; Feng Lucy; Kim Jihee; Godfrey Caroline; Clement Emma; Mein Rachael; Abbs Stephen; Brown Susan C; Campbell Kevin P; Kröger Stephan; Talim Beril; Topaloglu Haluk; Quinlivan Ros; Roper Helen; Childs Anne M; Kinali Maria; Sewry Caroline A; Muntoni Francesco
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
Brain pathology (Zurich, Switzerland) 2009;19(4):596-611.
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2009: Nowak Kristen J; Ravenscroft Gianina; Jackaman Connie; Filipovska Aleksandra; Davies Stefan M; Lim Esther M; Squire Sarah E; Potter Allyson C; Baker Elizabeth; Clément Sophie; Sewry Caroline A; Fabian Victoria; Crawford Kelly; Lessard James L; Griffiths Lisa M; Papadimitriou John M; Shen Yun; Morahan Grant; Bakker Anthony J; Davies Kay E; Laing Nigel G
Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin.
The Journal of cell biology 2009;185(5):903-15.
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2008: Sewry Caroline A; Jimenez-Mallebrera Cecilia; Muntoni Francesco
Congenital myopathies.
Current opinion in neurology 2008;21(5):569-75.
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2008: Quijano-Roy Susana; Mbieleu Blaise; Bönnemann Carsten G; Jeannet Pierre-Yves; Colomer Jaume; Clarke Nigel F; Cuisset Jean-Marie; Roper Helen; De Meirleir Linda; D'Amico Adele; Ben Yaou Rabah; Nascimento Andrés; Barois Annie; Demay Laurence; Bertini Enrico; Ferreiro Ana; Sewry Caroline A; Romero Norma B; Ryan Monique; Muntoni Francesco; Guicheney Pascale; Richard Pascale; Bonne Gisèle; Estournet Brigitte
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Annals of neurology 2008;64(2):177-86.
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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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2007: Jungbluth Heinz; Zhou Haiyan; Sewry Caroline A; Robb Stephanie; Treves Susan; Bitoun Marc; Guicheney Pascale; Buj-Bello Anna; Bönnemann Carsten; Muntoni Francesco
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
Neuromuscular disorders : NMD 2007;17(4):338-45.
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2007: Hartley L; Kinali M; Knight R; Mercuri E; Hubner C; Bertini E; Manzur A Y; Jimenez-Mallebrera C; Sewry C A; Muntoni F
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus.
Neuromuscular disorders : NMD 2007;17(2):174-9.
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2007: Nowak Kristen J; Sewry Caroline A; Navarro Carmen; Squier Waney; Reina Cristina; Ricoy Jose R; Jayawant Sandeep S; Childs Anne-Marie; Dobbie J Angus; Appleton Richard E; Mountford Roger C; Walker Kendall R; Clement Sophie; Barois Annie; Muntoni Francesco; Romero Norma B; Laing Nigel G
Nemaline myopathy caused by absence of alpha-skeletal muscle actin.
Annals of neurology 2007;61(2):175-84.
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2007: Laing Nigel G; Sewry Caroline A; Lamont Phillipa
Congenital myopathies.
Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn 2007;86():1-33.
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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: D'Amico Adele; Graziano Claudio; Pacileo Giuseppe; Petrini Stefania; Nowak Kristen J; Boldrini Renata; Jacques Adam; Feng Juan-Juan; Porfirio Berardino; Sewry Caroline A; Santorelli Filippo M; Limongelli Giuseppe; Bertini Enrico; Laing Nigel; Marston Steven B
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
Neuromuscular disorders : NMD 2006;16(9-10):548-52.
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2006: Jimenez-Mallebrera C; Maioli M A; Kim J; Brown S C; Feng L; Lampe A K; Bushby K; Hicks D; Flanigan K M; Bonnemann C; Sewry C A; Muntoni F
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.
Neuromuscular disorders : NMD 2006;16(9-10):571-82.
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2006: Muntoni F; Bonne G; Goldfarb L G; Mercuri E; Piercy R J; Burke M; Yaou R Ben; Richard P; Récan D; Shatunov A; Sewry C A; Brown S C
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
Brain : a journal of neurology 2006;129(Pt 5):1260-8.
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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: Sewry C A; Nowak K J; Ehmsen J T; Davies K E
A and B utrophin in human muscle and sarcolemmal A-utrophin associated with tumours.
Neuromuscular disorders : NMD 2005;15(11):779-85.
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2005: Pham Y Chan N; Man Nguyen thi; Holt Ian; Sewry Caroline A; Pall Gurman; Johnson Keith; Morris Glenn E
Characterisation of the transcription factor, SIX5, using a new panel of monoclonal antibodies.
Journal of cellular biochemistry 2005;95(5):990-1001.
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2005: Jimenez-Mallebrera C; Brown S C; Sewry C A; Muntoni F
Congenital muscular dystrophy: molecular and cellular aspects.
Cellular and molecular life sciences : CMLS 2005;62(7-8):809-23.
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2004: Jungbluth Heinz; Davis Mark R; Müller Clemens; Counsell Serena; Allsop Joanna; Chattopadhyay Arijit; Messina Sonia; Mercuri Eugenio; Laing Nigel G; Sewry Caroline A; Bydder Graeme; Muntoni Francesco
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.
Neuromuscular disorders : NMD 2004;14(12):785-90.
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2004: Jungbluth Heinz; Sewry Caroline A; Counsell Serena; Allsop Joanna; Chattopadhyay Arijit; Mercuri Eugenio; North Kathryn; Laing Nigel; Bydder Graeme; Pelin Katarina; Wallgren-Pettersson Carina; Muntoni Francesco
Magnetic resonance imaging of muscle in nemaline myopathy.
Neuromuscular disorders : NMD 2004;14(12):779-84.
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2004: Torelli S; Brown S C; Jimenez-Mallebrera C; Feng L; Muntoni F; Sewry C A
Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions.
Neuropathology and applied neurobiology 2004;30(5):540-5.
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2004: Kinali M; Jungbluth H; Eunson L H; Sewry C A; Manzur A Y; Mercuri E; Hanna M G; Muntoni F
Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.
Neuromuscular disorders : NMD 2004;14(10):689-93.
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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: Longman Cheryl; Sewry Caroline A; Muntoni Francesco
Muscle involvement in the cerebro-oculo-facio-skeletal syndrome.
Pediatric neurology 2004;30(2):125-8.
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2004: Brown S C; Torelli S; Jimenez C; Muntoni F; Sewry C A
Immunopathology and molecular genetics of dystrophinopathies.
Supplements to Clinical neurophysiology 2004;57():313-21.
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2003: Quinlivan R M; Muller C R; Davis M; Laing N G; Evans G A; Dwyer J; Dove J; Roberts A P; Sewry C A
Central core disease: clinical, pathological, and genetic features.
Archives of disease in childhood 2003;88(12):1051-5.
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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: 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: Jungbluth H; Sewry C A; Buj-Bello A; Kristiansen M; Ørstavik K H; Kelsey A; Manzur A Y; Mercuri E; Wallgren-Pettersson C; Muntoni F
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation.
Neuromuscular disorders : NMD 2003;13(1):55-9.
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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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2003: Jungbluth Heinz; Sewry Caroline A; Muntoni Francesco
What's new in neuromuscular disorders? The congenital myopathies.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(1):23-30.
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2002: Sewry C A; Müller C; Davis M; Dwyer J S M; Dove J; Evans G; Schröder R; Fürst D; Helliwell T; Laing N; Quinlivan R C M
The spectrum of pathology in central core disease.
Neuromuscular disorders : NMD 2002;12(10):930-8.
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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: 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: Greener Marc J; Sewry Caroline A; Muntoni Francesco; Roberts Roland G
The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss.
European journal of human genetics : EJHG 2002;10(7):413-20.
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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: Goldring K; Jones G E; Sewry C A; Watt D J
The muscle-specific marker desmin is expressed in a proportion of human dermal fibroblasts after their exposure to galectin-1.
Neuromuscular disorders : NMD 2002;12(2):183-6.
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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: Kerr T P; Sewry C A; Robb S A; Roberts R G
Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
Human genetics 2001;109(4):402-7.
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2001: Philpot J; Counsell S; Bydder G; Sewry C A; Dubowitz V; Muntoni F
Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?
Neuromuscular disorders : NMD 2001;11(5):489-93.
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2001: Brown S C; Muntoni F; Sewry C A
Non-sarcolemmal muscular dystrophies.
Brain pathology (Zurich, Switzerland) 2001;11(2):193-205.
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2001: Sewry C A; Brown S C; Pelin K; Jungbluth H; Wallgren-Pettersson C; Labeit S; Manzur A; Muntoni F
Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.
Neuromuscular disorders : NMD 2001;11(2):146-53.
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2001: Sewry C A; Man N T; Lynch T; Morris G E
Absence of utrophin in intercalated discs of human cardiac muscle.
The Histochemical journal 2001;33(1):9-12.
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2001: Jungbluth H; Sewry C A; Brown S C; Nowak K J; Laing N G; Wallgren-Pettersson C; Pelin K; Manzur A Y; Mercuri E; Dubowitz V; Muntoni F
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
Neuromuscular disorders : NMD 2001;11(1):35-40.
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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: Overton T G; Smith R P; Sewry C A; Holder S E; Fisk N M
Maternal contamination at fetal muscle biopsy.
Fetal diagnosis and therapy 2000;15(2):118-21.
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2000: Sewry C A
Immunocytochemical analysis of human muscular dystrophy.
Microscopy research and technique 2000;48(3-4):142-54.
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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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2000: Naom I; D'alessandro M; Sewry C A; Jardine P; Ferlini A; Moss T; Dubowitz V; Muntoni F
Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy.
Brain : a journal of neurology 2000;123 ( Pt 1)():31-41.
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2000: Philpot J; Pennock J; Cowan F; Sewry C A; Dubowitz V; Bydder G; Muntoni F
Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2000;4(3):109-14.
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2000: Jungbluth H; Rees M I; Manzur A Y; Mercuri E; Sewry C A; Gobbi P; Muntoni F
An unusual case of hyperekplexia.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2000;4(2):77-80.
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1999: Manilal S; Sewry C A; Pereboev A; Man N; Gobbi P; Hawkes S; Love D R; Morris G E
Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy.
Human molecular genetics 1999;8(2):353-9.
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1998: Naom I; D'Alessandro M; Sewry C A; Philpot J; Manzur A Y; Dubowitz V; Muntoni F
Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.
Neuromuscular disorders : NMD 1998;8(7):495-501.
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1998: Manzur A Y; Sewry C A; Ziprin J; Dubowitz V; Muntoni F
A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance.
Neuromuscular disorders : NMD 1998;8(7):467-73.
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1998: Taylor J; Sewry C A; Dubowitz V; Muntoni F
Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression.
Neurology 1998;51(4):1116-20.
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1998: Sewry C A
The role of immunocytochemistry in congenital myopathies.
Neuromuscular disorders : NMD 1998;8(6):394-400.
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1998: Manilal S; Recan D; Sewry C A; Hoeltzenbein M; Llense S; Leturcq F; Deburgrave N; Barbot J; Man N; Muntoni F; Wehnert M; Kaplan J; Morris G E
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.
Human molecular genetics 1998;7(5):855-64.
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1998: Muntoni F; Lichtarowicz-Krynska E J; Sewry C A; Manilal S; Recan D; Llense S; Taylor J; Morris G E; Dubowitz V
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy.
Neuromuscular disorders : NMD 1998;8(2):72-6.
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1998: Sewry C A; Uziyel Y; Torelli S; Buchanan S; Sorokin L; Cohen J; Watt D J
Differential labelling of laminin alpha 2 in muscle and neural tissue of dy/dy mice: are there isoforms of the laminin alpha 2 chain?
Neuropathology and applied neurobiology 1998;24(1):66-72.
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1998: Muntoni F; Taylor J; Sewry C A; Naom I; Dubowitz V
An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 1998;2(1):19-26.
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1997: Taylor J; Muntoni F; Dubowitz V; Sewry C A
The abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related.
Neuropathology and applied neurobiology 1997;23(5):399-405.
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1997: Sewry C A; D'Alessandro M; Wilson L A; Sorokin L M; Naom I; Bruno S; Ferlini A; Dubowitz V; Muntoni F
Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy.
Neuropediatrics 1997;28(4):217-22.
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1997: Sewry C A; Naom I; D'Alessandro M; Sorokin L; Bruno S; Wilson L A; Dubowitz V; Muntoni F
Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.
Neuromuscular disorders : NMD 1997;7(3):169-75.
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1997: Manilal S; Sewry C A; Man N; Muntoni F; Morris G E
Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies.
Neuromuscular disorders : NMD 1997;7(1):63-6.
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