Research Topics
Genomes and Genes | Heinz JungbluthSummaryAffiliation: Guy's and St Thomas' NHS Foundation Trust Country: UK Publications
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Publications
Characterization of recessive RYR1 mutations in core myopathiesHaiyan Zhou
The Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London, UK
Hum Mol Genet 15:2791-803. 2006..Taken together, our data suggest major differences in the ways RYR1 mutations may affect patients with core myopathies, by compromising RyR1 protein expression, stability and/or activity...
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigmSusan Treves
Dipartimento di Medicina Sperimentale e Diagnostica, Universita di Ferrara, 44100 Ferrara, Italy
Curr Opin Pharmacol 8:319-26. 2008..In this review, we discuss the classes of RYR1 mutations which have been associated with CCD, MmD and related neuromuscular phenotypes...- X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10N Trump
DNA Laboratory, GSTS Pathology, Guy s Hospital, London, UK
Neuromuscul Disord 22:384-8. 2012..Our findings suggest that complex rearrangements have to be considered in typically affected males with X-linked myotubular myopathy... 
Multi-minicore DiseaseHeinz Jungbluth
Department of Paediatric Neurology, Evelina Children s Hospital, St Thomas Hospital, London, UK
Orphanet J Rare Dis 2:31. 2007..In the majority of patients, weakness is static or only slowly progressive, with the degree of respiratory impairment being the most important prognostic factor...- Centronuclear (myotubular) myopathyHeinz Jungbluth
Department of Paediatric Neurology, Neuromuscular Service, Evelina Children s Hospital, St Thomas Hospital, London, UK
Orphanet J Rare Dis 3:26. 2008..Whereas the X-linked form due to MTM1 mutations is often fatal in infancy, dominant forms due to DNM2 mutations and some cases of the recessive BIN1-related form appear to be associated with an overall more favourable prognosis... - Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) geneHeinz Jungbluth
Clinical Neuroscience Division, King s College, London, UK
Neuromuscul Disord 19:344-7. 2009..Late-onset congenital myopathies may be under-recognised and diagnosis requires a high degree of clinical suspicion... - Central core diseaseHeinz Jungbluth
Evelina Children s Hospital, Department of Paediatric Neurology, St Thomas Hospital, London, UK
Orphanet J Rare Dis 2:25. 2007..In the majority of patients, weakness is static or only slowly progressive, with a favourable long-term outcome... - Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutationHeinz Jungbluth
Clinical Neuroscience Division, King s College, London, UK
Neuromuscul Disord 20:49-52. 2010..Our findings expand the phenotypical spectrum associated with DNM2 mutations and provide a new clinical indicator for involvement of this gene in patients with centronuclear myopathy... - Core myopathiesHeinz Jungbluth
Clinical Neuroscience Division, Institute of Psychiatry, King s College London, London, UK
Semin Pediatr Neurol 18:239-49. 2011.... - Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutationsHeinz Jungbluth
Department of Paediatric Neurology, Guy s Hospital, London, UK
Neuromuscul Disord 14:785-90. 2004..Muscle MRI may supplement clinical assessment and aid selection of genetic tests particularly in patients with non-diagnostic or equivocal histopathological features... - Magnetic resonance imaging of muscle in nemaline myopathyHeinz Jungbluth
Department of Paediatric Neurology, Guy s Hospital, London, UK
Neuromuscul Disord 14:779-84. 2004.... - The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathyHenry Houlden
Department of Molecular Neurosciences and The MRC Centre for Neuromuscular diseases, The National Hospital for Neurology and Neurosurgery, The Institute of Neurology, Queen Square, London, WC1N 3BG, England, UK
Neuromuscul Disord 19:264-9. 2009.... - Muscle MRI findings in a three-generation family affected by Bethlem myopathyEugenio Mercuri
Dubowitz Neuromuscular Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
Eur J Paediatr Neurol 6:309-14. 2002..Further studies in a larger cohort are needed to evaluate the specificity of these findings... - Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) geneHaiyan Zhou
Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK
Neuromuscul Disord 20:166-73. 2010..We conclude that RYR1 mutations may give rise to both myopathies and atypical periodic paralysis, and RYR1 mutations may underlie other unresolved cases of periodic paralysis with unusual features... - Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathiesStephanie A Robb
The Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, UK
Neuromuscul Disord 21:379-86. 2011..Treatment with acetylcholinesterase inhibitors may benefit some CNM patients. This warrants further confirmation... - Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup
DNA Laboratory, Guy s and St Thomas Serco Pathology, Guy s Hospital, London, UK
Nat Genet 45:83-7. 2013.... - Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disordersEugenio Mercuri
Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College School of Medicine, Hammersmith Hospital, London, UK
Curr Opin Neurol 18:526-37. 2005..This review reports on the use of muscle magnetic resonance imaging as a clinical and research tool in inherited neuromuscular disorders... - What's new in neuromuscular disorders? The congenital myopathiesHeinz Jungbluth
Dubowitz Neuromuscular Centre, Hammersmith Hospital, Imperial College Faculty of Medicine, London, UK
Eur J Paediatr Neurol 7:23-30. 2003..The following review summarizes recent genetic findings in the congenital myopathies and outlines implications for our understanding of their pathophysiological basis and their relation to other neuromuscular disorders... - White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 geneArtemis D Gika
Department of Paediatric Neurology, Evelina Children s Hospital, Guy s and St Thomas NHS Foundation Trust, London, UK
Dev Med Child Neurol 52:475-82. 2010..The aim of this study was to describe neuroimaging findings and neurological features in males with SLC16A2 gene mutations... - Infantile onset myofibrillar myopathy due to recessive CRYAB mutationsKatharine M L Forrest
Department of Paediatric Neurology, Neuromuscular Service, Evelina Children s Hospital, London, UK
Neuromuscul Disord 21:37-40. 2011..These findings suggest a severe, recessively inherited form of CRYAB-related myofibrillar myopathy. Profound muscle stiffness as the main presenting feature indicates αB-crystallin as a potent modifier of muscle contractility... - BAG3 mutations: another cause of giant axonal neuropathyFatima Jaffer
MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK
J Peripher Nerv Syst 17:210-6. 2012..This report confirms the association of giant axonal neuropathy with BAG3-associated myofibrillar myopathy, and highlights that neuropathy may be a significant feature... - A short protocol for muscle MRI in children with muscular dystrophiesEugenio Mercuri
Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial School of Medicine, Hammersmith Hospital, London, UK
Eur J Paediatr Neurol 6:305-7. 2002.... - Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectinKatharine Forrest
Department of Paediatric Neurology, Neuromuscular Service, Evelina Children s Hospital, St Thomas Hospital, Lambeth Palace Road, London, UK
Neuromuscul Disord 20:709-11. 2010..We conclude that PLEC1 should be considered in the differential diagnosis of congenital muscular dystrophies and myasthenic syndromes, even in the absence of prominent skin involvement... - Myopathic causes of exercise intolerance with rhabdomyolysisRos Quinlivan
MRC Centre for Neuromuscular Diseases, Institute of Neurology, National Hospital, London, UK
Dev Med Child Neurol 54:886-91. 2012..A careful history and examination and laboratory confirmation of myoglobinuria will target investigations leading to a correct molecular diagnosis... - Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsyVerity McClelland
Department of Paediatric Neurology, Evelina Children s Hospital, Guy s and St Thomas NHS Foundation Trust, London, UK
Am J Med Genet A 152:741-7. 2010.... - A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 geneAna Ferreiro
INSERM U523, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651 Paris, France
Ann Neurol 51:750-9. 2002..This subgroup of families linked to 19q13 represents the first variant of central core disease with genetically proven recessive inheritance and transient presentation as multi-minicore disease... - 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The NetherlandsHeinz Jungbluth
Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
Neuromuscul Disord 14:754-66. 2004 - Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathiesHaiyan Zhou
Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital London, United Kingdom
Am J Hum Genet 79:859-68. 2006..Furthermore, our data suggest that imprinting is a likely mechanism for this phenomenon and that similar mechanisms could play a role in human phenotypic heterogeneity... - Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytesSylvie Ducreux
Department of Anaesthesia and Research, Basel University Hospital, 4031 Basel, Switzerland
Biochem J 395:259-66. 2006.... - Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathiesHaiyan Zhou
Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London W12 0NN
Brain 130:2024-36. 2007..Our data represent the most extensive study of RYR1-related myopathies and indicate complex genotype-phenotype correlations associated with mutations differentially affecting assembly and function of the RyR1 calcium release channel... - Functional effects of mutations identified in patients with multiminicore diseaseFrancesco Zorzato
Dipartimento di Medicina Sperimentale e Diagnostica, Universita di Ferrara Ferrara Italy
IUBMB Life 59:14-20. 2007..In the present review we discuss the most recent findings on the functional effect of mutations in SEPN1 and RYR1 and discuss how they may adversely affect muscle function and lead to the clinical phenotype... - Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathiesAna Ferreiro
INSERM U523, Institut de Myologie, Institut Fédératif de Recherche 14 Coeur, Muscle et Vaisseaux, Paris, France
Am J Hum Genet 71:739-49. 2002..The present study represents the first identification of a gene responsible for classical MmD, demonstrates its genetic heterogeneity, and reassesses the nosological boundaries between MmD and RSMD... - Nebulin mutations in autosomal recessive nemaline myopathy: an updateKatarina Pelin
Department of Medical Genetics, , P.O. Box 211, FIN-00251, Helsinki, Finland
Neuromuscul Disord 12:680-6. 2002..Most of the mutations are predicted to result in truncated or internally deleted proteins. Mutations in the differentially expressed exons are expected to reduce the nebulin isoform diversity necessary for normal muscle development... - MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvementJoachim Schessl
Division of Neurology, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Neuromuscul Disord 17:28-32. 2007..These characteristic findings on muscle MRI confirm similar findings reported for CT imaging in dynamin 2 related dominant centronuclear myopathy and may help to differentiate this disorder from central core disease and other myopathies... - Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease)Nomazulu Dlamini
Department of Paediatric Neurology-Neuromuscular Service, Evelina Children's Hospital, St. Thomas' Hospital, Lambeth Palace Road, London SE1 7EH, United Kingdom
Neuromuscul Disord 18:408-9. 2008 - Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) geneHeinz Jungbluth
Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
Neuromuscul Disord 17:338-45. 2007....