Progressive muscular dystrophies.

[1]  J. Kaplan.  The 2012 version of the gene table of monogenic neuromuscular disorders , 2011, Neuromuscular Disorders.

[2]  A. Verrotti,et al.  Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy. , 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[3]  Daniel G. Miller,et al.  A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy , 2010, Science.

[4]  F. Baas,et al.  Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. , 2010, American journal of human genetics.

[5]  C. Gilissen,et al.  Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy , 2010, PloS one.

[6]  F. Rivier,et al.  Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. , 2009, Human molecular genetics.

[7]  J. Billard,et al.  Role of Mental Retardation-Associated Dystrophin-Gene Product Dp71 in Excitatory Synapse Organization, Synaptic Plasticity and Behavioral Functions , 2009, PloS one.

[8]  F. Leturcq,et al.  Endomysial Fibrosis in Duchenne Muscular Dystrophy: A Marker of Poor Outcome Associated With Macrophage Alternative Activation , 2009, Journal of neuropathology and experimental neurology.

[9]  C. Angelini,et al.  Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes , 2009, Neurology.

[10]  F. Leturcq,et al.  Clinical Heterogeneity of Duchenne Muscular Dystrophy (DMD): Definition of Sub-Phenotypes and Predictive Criteria by Long-Term Follow-Up , 2009, PloS one.

[11]  M. Cossée,et al.  Detection of exonic copy‐number changes using a highly efficient oligonucleotide‐based comparative genomic hybridization‐array method , 2008, Human mutation.

[12]  S. Colan,et al.  Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. , 2008, American heart journal.

[13]  N. Alfen,et al.  Thought Ripples on Muscle Waves: Recognition of Rippling Muscle Disease , 2008, Neuropediatrics.

[14]  F. Leturcq,et al.  Revised spectrum of mutations in sarcoglycanopathies , 2008, European Journal of Human Genetics.

[15]  A. Manzur,et al.  Glucocorticoid corticosteroids for Duchenne muscular dystrophy. , 2008, The Cochrane database of systematic reviews.

[16]  A. Toutain,et al.  Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. , 2007, American heart journal.

[17]  D. Figarella-Branger,et al.  Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. , 2007, Archives of neurology.

[18]  John Bourke,et al.  Managing Duchenne muscular dystrophy – The additive effect of spinal surgery and home nocturnal ventilation in improving survival , 2007, Neuromuscular Disorders.

[19]  Y. Maegaki,et al.  Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy , 2007, Brain and Development.

[20]  C. Béroud,et al.  Protein‐ and mRNA‐based phenotype–genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene , 2007, Human mutation.

[21]  J. Chamberlain.  ACE inhibitor bulks up muscle , 2007, Nature Medicine.

[22]  B. Wong,et al.  Effect of Long-term Steroids on Cough Efficiency and Respiratory Muscle Strength in Patients With Duchenne Muscular Dystrophy , 2007, Pediatrics.

[23]  Hanns Lochmüller,et al.  A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay , 2007, Neuromuscular Disorders.

[24]  P. Suratt,et al.  Reduced Time in Bed and Obstructive Sleep-Disordered Breathing in Children Are Associated With Cognitive Impairment , 2007, Pediatrics.

[25]  K. Bushby,et al.  Severe phenotype in infantile facioscapulohumeral muscular dystrophy , 2006, Neuromuscular Disorders.

[26]  Biggar Wd.  Duchenne muscular dystrophy. , 2006, Pediatrics in review.

[27]  C. Béroud,et al.  Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies , 2005, Human mutation.

[28]  H. Bécane,et al.  Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. , 2005, Journal of the American College of Cardiology.

[29]  Francesco Muntoni,et al.  Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures , 2005, Neuromuscular Disorders.

[30]  L. Melin,et al.  Specific cognitive deficits are common in children with Duchenne muscular dystrophy. , 2004, Developmental medicine and child neurology.

[31]  J. Mendell,et al.  Three‐tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD) , 2004, Human mutation.

[32]  R. Vossen,et al.  DGGE‐based whole‐gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients , 2004, Human mutation.

[33]  Francesco Muntoni,et al.  Dystrophin and mutations: one gene, several proteins, multiple phenotypes , 2003, The Lancet Neurology.

[34]  A. Green,et al.  The Duchenne muscular dystrophy population in Denmark, 1977–2001: prevalence, incidence and survival in relation to the introduction of ventilator use , 2003, Neuromuscular Disorders.

[35]  F. Muntoni,et al.  Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype. , 2003, The Israel Medical Association journal : IMAJ.

[36]  R. Moura-Neto,et al.  DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene , 2002, Neuromuscular Disorders.

[37]  M. Behen,et al.  Altered regional brain glucose metabolism in Duchenne muscular dystrophy: A pet study , 2002, Muscle & nerve.

[38]  Andrew P. Weir,et al.  Function and genetics of dystrophin and dystrophin-related proteins in muscle. , 2002, Physiological reviews.

[39]  T. Meitinger,et al.  Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome , 2001, Nature Genetics.

[40]  I. Nonaka,et al.  Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy , 2001, Neuromuscular Disorders.

[41]  K. Greenwood,et al.  Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients. , 2001 .

[42]  N. Bresolin,et al.  Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy , 2000, Neurology.

[43]  Xin Huang,et al.  Structure of a WW domain containing fragment of dystrophin in complex with β-dystroglycan , 2000, Nature Structural Biology.

[44]  H. Beckerman,et al.  The effects of knee-ankle-foot orthoses in the treatment of Duchenne muscular dystrophy: review of the literature , 2000, Clinical rehabilitation.

[45]  M. Mehler.  Brain dystrophin, neurogenetics and mental retardation , 2000, Brain Research Reviews.

[46]  N. Bresolin,et al.  Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies , 2000, Neuromuscular Disorders.

[47]  E Bakker,et al.  Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study , 1999, The Lancet.

[48]  L. Anderson,et al.  Multiplex Western blotting system for the analysis of muscular dystrophy proteins. , 1999, The American journal of pathology.

[49]  F. Muntoni,et al.  X-linked dilated cardiomyopathy and the dystrophin gene , 1999, Neuromuscular Disorders.

[50]  G. Radda,et al.  Brain biochemistry in Duchenne muscular dystrophy: A 1H magnetic resonance and neuropsychological study , 1998, Journal of the Neurological Sciences.

[51]  K. Campbell,et al.  The sarcoglycan complex in limb-girdle muscular dystrophy. , 1998, Current opinion in neurology.

[52]  K. Goto,et al.  Epilepsy and mental retardation in a subset of early onset 4q35‐facioscapulohumeral muscular dystrophy , 1998, Neurology.

[53]  J. Beckmann,et al.  Calpain-3 deficiency causes a mild muscular dystrophy in childhood. , 1997, Neuropediatrics.

[54]  K. Campbell,et al.  Muscular dystrophies and the dystrophin-glycoprotein complex. , 1997, Current opinion in neurology.

[55]  G. Danieli,et al.  Duchenne phenotype with in‐frame deletion removing major portion of dystrophin rod: Threshold effect for deletion size? , 1996, Muscle & nerve.

[56]  V. Shashi,et al.  Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS? , 1995, American journal of medical genetics.

[57]  F. Muntoni,et al.  Deletions in the 5' region of dystrophin and resulting phenotypes. , 1994, Journal of medical genetics.

[58]  C. Wijmenga,et al.  Facioscapulohumeral muscular dystrophy in early childhood. , 1994, Archives of neurology.

[59]  V. Dubowitz,et al.  Manifesting carriers of Xp21 muscular dystrophy; Lack of correlation between dystrophin expression and clinical weakness , 1993, Neuromuscular Disorders.

[60]  L. Carlier,et al.  NUTRITIONAL ASSESSMENT IN DUCHENNE MUSCULAR DYSTROPHY , 1993, Developmental medicine and child neurology.

[61]  K. Bushby,et al.  Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups. , 1993, Journal of medical genetics.

[62]  K. Davies,et al.  Dystrophin and related proteins. , 1993, Current opinion in genetics & development.

[63]  P. Briand,et al.  Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice , 1993, Nature.

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

[65]  K. Davies,et al.  Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs , 1991, Nature.

[66]  L. Kunkel,et al.  Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction , 1990, Human Genetics.

[67]  K. Davies,et al.  Very mild muscular dystrophy associated with the deletion of 46% of dystrophin , 1990, Nature.

[68]  J. Miller,et al.  Duchenne muscular dystrophy , 1989, Neurology.

[69]  K. Campbell,et al.  Association of dystrophin and an integral membrane glycoprotein , 1989, Nature.

[70]  A. Monaco,et al.  Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene , 1986, Nature.

[71]  J. Miller,et al.  Clinical investigation in duchenne dystrophy: 2. Determination of the “power” of therapeutic trials based on the natural history , 1983, Muscle & nerve.

[72]  K. Bushby,et al.  A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. , 2011, Brain : a journal of neurology.

[73]  K. Bushby,et al.  The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. , 1999, Human molecular genetics.

[74]  J. Mendell,et al.  Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. , 1995, American journal of human genetics.

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