The muscular dystrophies

[1]  D. N. Landon,et al.  Emery-dreifuss syndrome , 1986, Journal of Neurology.

[2]  P. E. Becker,et al.  Eine neue x-chromosomale Muskeldystrophie , 2004, Archiv für Psychiatrie und Nervenkrankheiten.

[3]  D. Hilton‐Jones,et al.  The limb-girdle muscular dystrophies , 2003, Neurology.

[4]  A. Emery Muscular dystrophy into the new millennium , 2002, Neuromuscular Disorders.

[5]  F. Muntoni,et al.  85th ENMC International Workshop on Congenital Muscular Dystrophy 6th International CMD Workshop 1st Workshop of the Myo-Cluster Project ‘GENRE’27–28th October 2000, Naarden, The Netherlands , 2002, Neuromuscular Disorders.

[6]  G. Morris The role of the nuclear envelope in Emery-Dreifuss muscular dystrophy. , 2001, Trends in molecular medicine.

[7]  E. Engvall,et al.  An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy , 2001, Nature.

[8]  Susan C. Brown,et al.  Skeletal muscle pathology in autosomal dominant Emery‐Dreifuss muscular dystrophy with lamin A/C mutations , 2001, Neuropathology and applied neurobiology.

[9]  M. Nöthen,et al.  Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease , 2001, Nature Genetics.

[10]  M. Mattson Pathogenesis of Neurodegenerative Disorders , 2001, Contemporary Neuroscience.

[11]  S. Bione,et al.  A mutation in the X-linked Emery–Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy , 2001, Neuromuscular Disorders.

[12]  R. Kapsa,et al.  In vivo and in vitro correction of the mdx dystrophin gene nonsense mutation by short-fragment homologous replacement. , 2001, Human gene therapy.

[13]  David I. K. Martin,et al.  Retrotransposons as epigenetic mediators of phenotypic variation in mammals , 2001, Nature Genetics.

[14]  D. J. Weatherall,et al.  Phenotype—genotype relationships in monogenic disease: lessons from the thalassaemias , 2001, Nature Reviews Genetics.

[15]  M. Burch,et al.  Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls , 2001, Neuromuscular Disorders.

[16]  T. Kumamoto,et al.  A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy , 2001, Neuromuscular Disorders.

[17]  L. Pennacchio,et al.  Genomic strategies to identify mammalian regulatory sequences , 2001, Nature Reviews Genetics.

[18]  Margaret A. Johnson,et al.  Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies , 2001, Neuromuscular Disorders.

[19]  K. Bushby,et al.  Muscular dystrophy : methods and protocols , 2001 .

[20]  K. Bushby,et al.  The limb-girdle muscular dystrophies. , 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[21]  R. Griggs,et al.  Distal myopathies. , 2001, Current opinion in neurology.

[22]  S. Lareau,et al.  Pulmonary rehabilitation , 2001, Breathe.

[23]  Eric P. Hoffman,et al.  Expression Profiling in the Muscular Dystrophies Identification of Novel Aspects of Molecular Pathophysiology , 2000 .

[24]  Juan Li,et al.  Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[25]  E. Mercuri,et al.  Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene , 2000, Annals of neurology.

[26]  K. Campbell,et al.  Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice , 2000, Gene Therapy.

[27]  N. Bresolin,et al.  Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiency. , 2000, Human molecular genetics.

[28]  V. Dubowitz 75th European Neuromuscular Centre International Workshop: 2nd Workshop on the Treatment of Muscular Dystrophy 10–12 December, 1999, Naarden, The Netherlands , 2000, Neuromuscular Disorders.

[29]  F. Baas,et al.  Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). , 2000, Human molecular genetics.

[30]  N. Keep,et al.  The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy. , 2000, Structure.

[31]  S. Bione,et al.  Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. , 2000, American journal of human genetics.

[32]  C. Sewry Immunocytochemical analysis of human muscular dystrophy , 2000, Microscopy research and technique.

[33]  S. Gregory,et al.  LMNA, encoding lamin A/C, is mutated in partial lipodystrophy , 2000, Nature Genetics.

[34]  D. Dressman,et al.  Full Functional Rescue of a Complete Muscle (TA) in Dystrophic Hamsters by Adeno-Associated Virus Vector-Directed Gene Therapy , 2000, Journal of Virology.

[35]  N. Darín,et al.  Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden , 2000, Neuromuscular Disorders.

[36]  J. Seidman,et al.  Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. , 1999, The New England journal of medicine.

[37]  R. Mulligan,et al.  Dystrophin expression in the mdx mouse restored by stem cell transplantation , 1999, Nature.

[38]  H. Sweeney,et al.  Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. , 1999, The Journal of clinical investigation.

[39]  N. Hattori,et al.  Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy , 1999, Neuromuscular Disorders.

[40]  J. Howell Is there a future for gene therapy? , 1999, Neuromuscular Disorders.

[41]  F. Muntoni,et al.  Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy , 1999, Nature Genetics.

[42]  K. Bushby,et al.  Failure of early diagnosis in symptomatic Duchenne muscular dystrophy , 1999, The Lancet.

[43]  Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD, and nocturnal hypoventilation--a consensus conference report. , 1999, Chest.

[44]  A. Simonds,et al.  Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy , 1998, Thorax.

[45]  I. Kanazawa,et al.  An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy , 1998, Nature.

[46]  C. Carlson The Dystrophinopathies: An Alternative to the Structural Hypothesis , 1998, Neurobiology of Disease.

[47]  K. Davies,et al.  Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice , 1998, Nature Genetics.

[48]  E. Hoffman,et al.  Mutations in the integrin α7 gene cause congenital myopathy , 1998, Nature Genetics.

[49]  J. Rommens,et al.  Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy , 1998, Nature Genetics.

[50]  David C Rees,et al.  Treatment of thalassaemia major with phenylbutyrate and hydroxyurea , 1997, The Lancet.

[51]  Hanns Lochmüller,et al.  The scope of gene therapy in humans: scientific, safety and ethical considerations , 1997, Neuromuscular Disorders.

[52]  P. Palladino The history of a genetic disease: Duchenne muscular dystrophy or Meryon's disease - Emery,AEH, Emery,MLH , 1997 .

[53]  Susan C. Brown,et al.  Dystrophin : gene, protein, and cell biology , 1997 .

[54]  K. Davies,et al.  Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene , 1996, Nature.

[55]  K. Inui,et al.  Gene therapy in Duchenne muscular dystrophy , 1996, Brain and Development.

[56]  R. Abresch,et al.  Profiles of neuromuscular diseases. Becker's muscular dystrophy. , 1995, American journal of physical medicine & rehabilitation.

[57]  D. Gardner‐Medwin,et al.  The History of a Genetic Disease: Duchenne Muscular Dystrophy or Meryon's Disease , 1995 .

[58]  F. Muntoni,et al.  Prenatal diagnosis in congenital muscular dystrophy , 1995, The Lancet.

[59]  E. Maestrini,et al.  Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy , 1994, Nature Genetics.

[60]  K. Bushby The muscular dystrophies. , 1994, Bailliere's clinical neurology.

[61]  K. Campbell,et al.  Congenital muscular dystrophy with merosin deficiency. , 1994, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

[62]  V. Dubowitz,et al.  Duchenne muscular dystrophy, 2nd edn.: Alan E. H. Emery. Oxford Monographs on Medical Genetics No. 24. Published 1993 by Oxford University Press, Oxford. ISBN 019 262370 2, 384 pp. Price £45 , 1993, Neuromuscular Disorders.

[63]  G. V. Ommen,et al.  Neonatal screening for muscular dystrophy Consensus recommendation of the 14th Workshop sponsored by the European Neuromuscular Center (ENMC) , 1993, Neuromuscular Disorders.

[64]  A. Emery Population frequencies of inherited neuromuscular diseases—A world survey , 1991, Neuromuscular Disorders.

[65]  A. Emery Emery-Dreifuss syndrome. , 1989, Journal of medical genetics.

[66]  A. Monaco,et al.  An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. , 1988, Genomics.

[67]  Eric P. Hoffman,et al.  Dystrophin: The protein product of the duchenne muscular dystrophy locus , 1987, Cell.

[68]  A. Monaco,et al.  Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. , 1985, Proceedings of the National Academy of Sciences of the United States of America.

[69]  M. W. Thompson,et al.  Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy , 1985, Nature.

[70]  B. Brambati,et al.  Calcium and magnesium content in fetuses at risk and prenecrotic Duchenne muscular dystrophy , 1984, Neurology.

[71]  A. Emery,et al.  Intracellular calcium and pathogenesis and antenatal diagnosis of Duchenne muscular dystrophy. , 1980, British medical journal.

[72]  B. Schwartz Letter: Ondine's curse. , 1976, Lancet.

[73]  G. Fenichel On the Pathogenesis of Duchenne Muscular Dystrophy * , 1975, Developmental medicine and child neurology.

[74]  F. Dreifuss,et al.  Unusual type of benign X linked muscular dystrophy , 1966, Journal of Neurology, Neurosurgery & Psychiatry.

[75]  Sue Healey,et al.  Oculopharyngeal Muscular Dystrophy , 1963, British medical journal.

[76]  P. E. Becker Two families of benign sex-linked recessive muscular dystrophy. , 1962, Revue canadienne de biologie.

[77]  E. Meryon On Granular and Fatty Degeneration of the Voluntary Muscles. , 1852, Medico-chirurgical transactions.