Kay Davies
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British geneticist and anatomist; educator
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Why Is Kay Davies Influential?
(Suggest an Edit or Addition)According to Wikipedia, Dame Kay Elizabeth Davies is a British geneticist. She is Dr Lee's Professor of Anatomy at the University of Oxford and a Fellow of Hertford College, Oxford. She is director of the Medical Research Council functional genetics unit, a governor of the Wellcome Trust, a director of the Oxford Centre for Gene Function, and a patron and Senior Member of Oxford University Scientific Society. Her research group has an international reputation for work on Duchenne muscular dystrophy . In the 1980s, she developed a test which allowed for the screening of foetuses whose mothers have a high risk of carrying DMD.
Kay Davies's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Function and genetics of dystrophin and dystrophin-related proteins in muscle. (2002) (1121)
- A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets (1995) (1005)
- Utrophin-Dystrophin-Deficient Mice as a Model for Duchenne Muscular Dystrophy (1997) (710)
- A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16 (1985) (702)
- A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse (2000) (682)
- A functional genetic link between distinct developmental language disorders. (2008) (662)
- Expression of full-length utrophin prevents muscular dystrophy in mdx mice (1998) (595)
- Report of the committee on the genetic constitution of the X chromosome. (1988) (570)
- Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.213.3 (1990) (556)
- Very mild muscular dystrophy associated with the deletion of 46% of dystrophin (1990) (554)
- Multipotent Stem/Progenitor Cells with Similar Properties Arise from Two Neurogenic Regions of Adult Human Brain (1999) (546)
- Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation (1993) (531)
- Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs (1991) (495)
- Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene (1996) (492)
- An autosomal transcript in skeletal muscle with homology to dystrophin (1989) (490)
- PDZ Domains: Targeting signalling molecules to sub‐membranous sites (1997) (437)
- Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans (2007) (416)
- Primary structure of dystrophin-related protein (1992) (399)
- The Dual Specificity Phosphatases M3/6 and MKP-3 Are Highly Selective for Inactivation of Distinct Mitogen-activated Protein Kinases* (1996) (378)
- Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. (1983) (365)
- Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome (1991) (345)
- Molecular mechanisms of muscular dystrophies: old and new players (2006) (339)
- Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. (1997) (321)
- Genetic homogeneity between acute and chronic forms of spinal muscular atrophy (1990) (313)
- The mixed-lineage leukemia fusion partner AF4 stimulates RNA polymerase II transcriptional elongation and mediates coordinated chromatin remodeling. (2007) (310)
- Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy (1982) (307)
- Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment (2004) (294)
- Localization of the DMDL gene-encoded dystrophin-related protein using a panel of nineteen monoclonal antibodies: presence at neuromuscular junctions, in the sarcolemma of dystrophic skeletal muscle, in vascular and other smooth muscles, and in proliferating brain cell lines (1991) (270)
- Foxp2 Regulates Gene Networks Implicated in Neurite Outgrowth in the Developing Brain (2011) (270)
- Hsp72 preserves muscle function and slows progression of severe muscular dystrophy (2012) (266)
- Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers (2015) (248)
- Long noncoding RNA genes: conservation of sequence and brain expression among diverse amniotes (2010) (246)
- Pulsed-field gel electrophoresis and the technology of large DNA molecules. (1988) (245)
- Report of the Committee on the Genetic Constitution of the X and Y Chromosomes. (1976) (245)
- High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders. (2007) (242)
- Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry (1981) (241)
- Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. (1995) (239)
- Expression of truncated utrophin leads to major functional improvements in dystrophin-deficient muscles of mice (1997) (239)
- The Pathogenesis and Therapy of Muscular Dystrophies. (2015) (238)
- Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy (2009) (238)
- PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs (1985) (233)
- Utrophin actin binding domain: analysis of actin binding and cellular targeting. (1995) (226)
- Postsynaptic Abnormalities at the Neuromuscular Junctions of Utrophin-deficient Mice (1997) (223)
- Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice (1998) (218)
- Evidence that a locus for familial psoriasis maps to chromosome 4q (1996) (218)
- Pharmacological strategies for muscular dystrophy (2003) (218)
- Neuromuscular defects in a Drosophila survival motor neuron gene mutant. (2003) (216)
- Activation of the lectin DC-SIGN induces an immature dendritic cell phenotype triggering Rho-GTPase activity required for HIV-1 replication (2007) (210)
- Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches (2013) (208)
- ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins. (1996) (202)
- Preferential deletion of exons in Duchenne and Becker muscular dystrophies (1987) (198)
- Increasing complexity of the dystrophin-associated protein complex. (1994) (196)
- Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. (2011) (190)
- A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice (2009) (187)
- A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. (1992) (175)
- Daily Treatment with SMTC1100, a Novel Small Molecule Utrophin Upregulator, Dramatically Reduces the Dystrophic Symptoms in the mdx Mouse (2011) (173)
- Transcriptional Profiling of Human Cord Blood CD133+ and Cultured Bone Marrow Mesenchymal Stem Cells in Response to Hypoxia (2007) (169)
- The dystrophin-related protein, utrophin, is expressed on the sarcolemma of regenerating human skeletal muscle fibres in dystrophies and inflammatory myopathies (1992) (168)
- Isoform Diversity of Dystrobrevin, the Murine 87-kDa Postsynaptic Protein (*) (1996) (167)
- Functional genetic analysis of mutations implicated in a human speech and language disorder. (2006) (167)
- Prevention of pathology in mdx mice by expression of utrophin: analysis using an inducible transgenic expression system. (2002) (165)
- Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. (1988) (165)
- Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? (1997) (162)
- Genome analysis : a practical approach (1988) (160)
- beta-dystrobrevin, a member of the dystrophin-related protein family. (1998) (160)
- Utrophin: A Structural and Functional Comparison to Dystrophin (1996) (160)
- The dystrophin-associated protein complex. (2002) (160)
- The Mitogen-activated Protein Kinase Phosphatase-3 N-terminal Noncatalytic Region Is Responsible for Tight Substrate Binding and Enzymatic Specificity* (1998) (160)
- Decreased myocardial nNOS, increased iNOS and abnormal ECGs in mouse models of Duchenne muscular dystrophy. (1999) (156)
- A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. (2006) (155)
- Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis (1987) (154)
- Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. (1984) (152)
- Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with β-dystroglycan (2007) (151)
- Identification and Characterization of Murine SCARA5, a Novel Class A Scavenger Receptor That Is Expressed by Populations of Epithelial Cells* (2006) (149)
- 59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17–19 April 1998, Soestduinen, The Netherlands (1999) (148)
- Localization and Quantitation of the Chromosome 6-Encoded Dystrophin-Related Protein in Normal and Pathological Human Muscle (1993) (146)
- A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation. (1985) (142)
- Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse. (2000) (141)
- Induction of utrophin gene expression by heregulin in skeletal muscle cells: role of the N-box motif and GA binding protein. (1999) (140)
- Dystrophic phenotype of canine X-linked muscular dystrophy is mitigated by adenovirus-mediated utrophin gene transfer (2003) (139)
- Syncoilin, a Novel Member of the Intermediate Filament Superfamily That Interacts with α-Dystrobrevin in Skeletal Muscle* (2001) (137)
- The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability. (1999) (135)
- Precursor arrays for triplet repeat expansion at the fragile X locus. (1994) (133)
- Human genetic diseases : a practical approach (1986) (132)
- Novel markers reveal subpopulations of subplate neurons in the murine cerebral cortex. (2009) (132)
- Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. (1984) (128)
- Localization of the mdx mutation within the mouse dystrophin gene. (1988) (128)
- Tissue distribution of the dystrophin-related gene product and expression in the mdx and dy mouse. (1991) (128)
- A- and B-utrophin Have Different Expression Patterns and Are Differentially Up-regulated in mdx Muscle* (2002) (128)
- Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells. (1992) (127)
- Pharmacological advances for treatment in Duchenne muscular dystrophy. (2017) (125)
- A dominant mutation in Snap25 causes impaired vesicle trafficking, sensorimotor gating, and ataxia in the blind-drunk mouse (2007) (122)
- Adenovirus-mediated utrophin gene transfer mitigates the dystrophic phenotype of mdx mouse muscles. (1999) (121)
- Report of the committee on the genetic constitution of the X and Y chromosomes. (1987) (120)
- Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy (1998) (120)
- PRENATAL DIAGNOSIS OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE WITH A DNA PROBE (1986) (118)
- Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. (1994) (118)
- The utrophin and dystrophin genes share similarities in genomic structure. (1993) (115)
- A CLINICALLY USEFUL DNA PROBE CLOSELY LINKED TO HAEMOPHILIA A (1984) (114)
- ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan. (2004) (114)
- Oxr1 Is Essential for Protection against Oxidative Stress-Induced Neurodegeneration (2011) (110)
- Therapeutic approaches to muscular dystrophy. (2011) (110)
- Utrophin binds laterally along actin filaments and can couple costameric actin with sarcolemma when overexpressed in dystrophin-deficient muscle. (2002) (108)
- A second promoter provides an alternative target for therapeutic up-regulation of utrophin in Duchenne muscular dystrophy. (1999) (107)
- Molecular and functional analysis of the utrophin promoter. (1996) (105)
- Prevention of dystrophic pathology in severely affected dystrophin/utrophin-deficient mice by morpholino-oligomer-mediated exon-skipping. (2010) (105)
- The sparing of extraocular muscle in dystrophinopathy is lost in mice lacking utrophin and dystrophin. (1998) (102)
- Muscle and Neural Isoforms of Agrin Increase Utrophin Expression in Cultured Myotubes via a Transcriptional Regulatory Mechanism* (1998) (101)
- Coiled-coil regions in the carboxy-terminal domains of dystrophin and related proteins: potentials for protein-protein interactions. (1995) (101)
- Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. (1986) (100)
- Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping (2012) (100)
- Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex (2000) (98)
- Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin (2010) (97)
- Expansion of revertant fibers in dystrophic mdx muscles reflects activity of muscle precursor cells and serves as an index of muscle regeneration (2006) (97)
- Evaluating the links between schizophrenia and sleep and circadian rhythm disruption (2012) (96)
- Utrophin: A potential replacement for dystrophin? (1993) (96)
- Chromosome-specific alpha satellite DNA from human chromosome 1: hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA. (1987) (94)
- Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation? (2000) (94)
- Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan (2008) (94)
- Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. (2004) (93)
- Characterisation of alpha-dystrobrevin in muscle. (1998) (92)
- Local Transcriptional Control of Utrophin Expression at the Neuromuscular Synapse* (1997) (88)
- Dystrophin and utrophin influence fiber type composition and post-synaptic membrane structure. (2000) (88)
- Immunological studies of yeast nuclear RNA polymerases at the subunit level. (1980) (87)
- Gene deletions in spinal muscular atrophy. (1996) (87)
- Prevention of the dystrophic phenotype in dystrophin/utrophin-deficient muscle following adenovirus-mediated transfer of a utrophin minigene (2000) (87)
- Detection of single base changes in DNA: ribonuclease cleavage and denaturing gradient gel electrophoresis. (1988) (86)
- Localization of the gene for X‐linked spinal muscular atrophy (1986) (84)
- Disrupted Circadian Rhythms in a Mouse Model of Schizophrenia (2012) (84)
- A glyceraldehyde‐3‐phosphate dehydrogenase pseudogene on the short arm of the human X chromosomes defines a multigene family. (1984) (84)
- Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex. (1998) (84)
- The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE. (1993) (82)
- Utrophin upregulation in Duchenne muscular dystrophy. (2005) (82)
- Testing of SHIRPA, a mouse phenotypic assessment protocol, on Dmdmdx and Dmdmdx3cv dystrophin-deficient mice (2000) (81)
- Retroviral‐mediated transfer of a dystrophin minigene into mdx mouse myoblasts in vitro (1992) (80)
- Genetic and Physical Mapping (1990) (80)
- Non-toxic ubiquitous over-expression of utrophin in the mdx mouse (2001) (79)
- The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter. (1994) (76)
- Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model (2009) (76)
- Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data. (1994) (76)
- Interaction between environmental and genetic factors modulates schizophrenic endophenotypes in the Snap-25 mouse mutant blind-drunk (2009) (75)
- Report of the committee on the genetic constitution of the X chromosome (Part 1 of 7) (1991) (75)
- Identification of valid housekeeping genes for quantitative RT-PCR analysis of cardiosphere-derived cells preconditioned under hypoxia or with prolyl-4-hydroxylase inhibitors (2011) (75)
- G-utrophin, the autosomal homologue of dystrophin Dp116, is expressed in sensory ganglia and brain. (1995) (74)
- Dystrophin and dystrophin-related proteins: A review of protein and RNA studies (1993) (72)
- Generation and Characterization of Transgenic Mice with the Full-length Human DMD Gene* (2008) (72)
- Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies. (1990) (72)
- Second-generation compound for the modulation of utrophin in the therapy of DMD (2015) (72)
- Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila (2000) (72)
- Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. (1993) (71)
- Enhanced Exon-skipping Induced by U7 snRNA Carrying a Splicing Silencer Sequence: Promising Tool for DMD Therapy. (2009) (70)
- Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site. (1993) (70)
- A Mutation in Af4 Is Predicted to Cause Cerebellar Ataxia and Cataracts in the Robotic Mouse (2003) (70)
- Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased alpha 7 integrin, utrophin and associated glycoproteins. (2003) (69)
- Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe. (1983) (69)
- The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy. (2004) (69)
- Dystrophin-related protein, utrophin, in normal and dystrophic human fetal skeletal muscle (2004) (68)
- Diaphragm rescue alone prevents heart dysfunction in dystrophic mice. (2011) (68)
- The role of utrophin in the potential therapy of Duchenne muscular dystrophy (2002) (68)
- Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein. (2000) (68)
- Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2‐13.3 (SMA 5q) (1990) (68)
- In vivo MRI Characterization of Progressive Cardiac Dysfunction in the mdx Mouse Model of Muscular Dystrophy (2012) (68)
- Human dystrophin expression corrects the myopathic phenotype in transgenic mdx mice. (1992) (68)
- Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin (2009) (67)
- A new DNA marker tightly linked to the fragile X locus (FRAXA). (1989) (66)
- Dismutase-competent SOD1 mutant accumulation in myelinating Schwann cells is not detrimental to normal or transgenic ALS model mice. (2010) (66)
- Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy. (2014) (65)
- Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. (1997) (65)
- Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome. (1991) (64)
- A Laminin-2, Dystroglycan, Utrophin Axis Is Required for Compartmentalization and Elongation of Myelin Segments (2009) (64)
- A Functional Analysis of Mouse Models of Cardiac Disease through Metabolic Profiling* (2005) (64)
- AAV genome loss from dystrophic mouse muscles during AAV-U7 snRNA-mediated exon-skipping therapy. (2013) (64)
- Neuron-specific antioxidant OXR1 extends survival of a mouse model of amyotrophic lateral sclerosis (2015) (63)
- Myoblast-based gene therapies. (1995) (62)
- The mapping of a cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome (1987) (62)
- Monoclonal antibodies against defined regions of the muscular dystrophy protein, dystrophin (1990) (61)
- Imprinted genes and the coordination of fetal and postnatal growth in mammals. (2001) (60)
- Progress in therapy for Duchenne muscular dystrophy (2011) (60)
- Expression of the dystrophin‐related protein (utrophin) gene during mouse embryogenesis (1993) (59)
- A candidate gene for mild mental handicap at the FRAXE fragile site. (1996) (59)
- Discovery of 2-arylbenzoxazoles as upregulators of utrophin production for the treatment of Duchenne muscular dystrophy. (2011) (59)
- Origins of the fragile X syndrome mutation. (1993) (58)
- Conference report: Fourth International Workshop on the fragile X and X-linked mental retardation. (1988) (58)
- Association of Syncoilin and Desmin (2002) (58)
- The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. (1983) (57)
- Abnormal cardiac morphology, function and energy metabolism in the dystrophic mdx mouse: an MRI and MRS study. (2008) (57)
- Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome. (1988) (56)
- Bridging markers defining the map position of X linked hypophosphataemic rickets. (1987) (56)
- PRENATAL EXCLUSION OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY BY DIRECT GENE ANALYSIS (1985) (56)
- The effect of glucocorticoids on the accumulation of utrophin by cultured normal and dystrophic human skeletal muscle satellite cells (1995) (55)
- Muscular Dystrophy—Reason for Optimism? (2002) (55)
- Advances in genetic therapeutic strategies for Duchenne muscular dystrophy (2015) (55)
- Two new cases of FMR1 deletion associated with mental impairment. (1995) (55)
- Assembly of multiple dystrobrevin-containing complexes in the kidney. (2000) (55)
- Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines. (1994) (55)
- EFFECTIVE STRATEGY FOR PRENATAL PREDICTION OF DUCHENNE AND BECKER MUSCULAR DYSTROPHY (1987) (55)
- Protein expression changes in spinal muscular atrophy revealed with a novel antibody array technology. (2003) (54)
- Sequences of junction fragments in the deletion-prone region of the dystrophin gene. (1991) (53)
- Temporal transcriptomics suggest that twin-peaking genes reset the clock (2015) (53)
- Dystrophin‐ and MLP‐deficient mouse hearts: marked differences in morphology and function, but similar accumulation of cytoskeletal proteins (2005) (53)
- A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom. (1996) (53)
- SNARE proteins and schizophrenia: linking synaptic and neurodevelopmental hypotheses. (2008) (52)
- Physical mapping studies on the human X chromosome in the region Xq27-Xqter. (1987) (52)
- A-utrophin up-regulation in mdx skeletal muscle is independent of regeneration (2004) (51)
- Engineering multiple U7snRNA constructs to induce single and multiexon-skipping for Duchenne muscular dystrophy. (2012) (51)
- Gene for OTC: characterisation and linkage to Duchenne muscular dystrophy (1985) (50)
- Safety, tolerability, and pharmacokinetics of SMT C1100, a 2‐arylbenzoxazole utrophin modulator, following single‐ and multiple‐dose administration to healthy male adult volunteers (2015) (50)
- Human X chromosome markers and Duchenne muscular dystrophy. (1985) (49)
- Utrophin Up-Regulation by an Artificial Transcription Factor in Transgenic Mice (2007) (49)
- Treating Muscular Dystrophy with Stem Cells? (2006) (48)
- Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy (2000) (48)
- Efficient utrophin expression following adenovirus gene transfer in dystrophic muscle. (1998) (48)
- Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy (2016) (48)
- A Motor Function for the DEAD-Box RNA Helicase, Gemin3, in Drosophila (2008) (47)
- Mapping of DNA markers close to the fragile site on the human X chromosome at Xq27.3. (1987) (47)
- Mediation of Af4 protein function in the cerebellum by Siah proteins. (2004) (47)
- Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy. (1991) (46)
- Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice (2014) (46)
- A member of the MAP kinase phosphatase gene family in mouse containing a complex trinucleotide repeat in the coding region. (1996) (46)
- The role of basal and myogenic factors in the transcriptional activation of utrophin promoter A: implications for therapeutic up-regulation in Duchenne muscular dystrophy. (2001) (45)
- Dystrophin-related protein, utrophin, in normal and dystrophic human fetal skeletal muscle (1993) (45)
- Genetic and physical mapping around the properdin P gene. (1991) (45)
- Activation of calcineurin and stress activated protein kinase/p38-mitogen activated protein kinase in hearts of utrophin–dystrophin knockout mice (2001) (44)
- Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations (2015) (44)
- Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene. (1997) (43)
- UTRN on chromosome 6q24 is mutated in multiple tumors (2007) (43)
- The DXS423E gene in Xp11.21 escapes X chromosome inactivation. (1995) (43)
- Dystroglycan mRNA expression during normal and mdx mouse embryogenesis: A comparison with utrophin and the apo‐dystrophins (1995) (43)
- A cytological map of the human X chromosome - evidence for non-random recombination (1984) (43)
- Region-specific deficits in dopamine, but not norepinephrine, signaling in a novel A30P α-synuclein BAC transgenic mouse (2014) (42)
- Pharmacologically targeting the primary defect and downstream pathology in Duchenne muscular dystrophy. (2012) (42)
- Dystrophin and related proteins. (1993) (42)
- CARRIER TESTING STRATEGY IN HAEMOPHILIA A (1986) (42)
- Genotype prediction in the fragile X syndrome. (1991) (42)
- Physical linkage of a GABAA receptor subunit gene to the DXS374 locus in human Xq28. (1989) (41)
- DELETION ON THE X CHROMOSOME DETECTED BY DIRECT DNA ANALYSIS IN ONE OF TWO UNRELATED BOYS WITH GLYCEROL KINASE DEFICIENCY, ADRENAL HYPOPLASIA, AND DUCHENNE MUSCULAR DYSTROPHY (1986) (41)
- Molecular biology of the W and steel loci. (1991) (41)
- The Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative Stress* (2015) (40)
- Linkage of tyrosine hydroxylase to four other markers on the short arm of chromosome 11. (1986) (40)
- LOCALISATION OF GENE FOR BECKER MUSCULAR DYSTROPHY (1983) (40)
- High resolution physical map of the region surrounding the spinal muscular atrophy gene. (1993) (40)
- Cognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressing FRAXE. (1997) (40)
- The occurrence of families of repetitive sequences in a library of cloned cDNA from human lymphocytes. (1981) (39)
- Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. (1993) (39)
- Instability versus predictability: the molecular diagnosis of myotonic dystrophy. (1992) (39)
- Linkage studies of X-linked recessive spastic paraplegia using DNA probes (1986) (39)
- Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13. (1994) (38)
- DNA testing for fragile X syndrome in schools for learning difficulties. (1995) (38)
- Mapping DNA sequences in a human X-chromosome deletion which extends across the region of the Duchenne muscular dystrophy mutation. (1985) (38)
- Actin Nemaline Myopathy Mouse Reproduces Disease, Suggests Other Actin Disease Phenotypes and Provides Cautionary Note on Muscle Transgene Expression (2011) (38)
- Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115. (1990) (38)
- A combined metabolomic and proteomic investigation of the effects of a failure to express dystrophin in the mouse heart. (2008) (37)
- Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients. (1987) (37)
- Characterization of deletions in the dystrophin gene giving mild phenotypes. (1990) (36)
- Metabolic profiles of dystrophin and utrophin expression in mouse models of Duchenne muscular dystrophy (2002) (36)
- The allure of stem cell therapy for muscular dystrophy (2007) (36)
- A Novel Mechanism for Modulating Synaptic Gene Expression: Differential Localization of α-Dystrobrevin Transcripts in Skeletal Muscle (2001) (36)
- Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophy. (1984) (35)
- Expression of the murine homologue of FMR2 in mouse brain and during development. (1998) (35)
- Microdissection of the fragile X region. (1990) (35)
- PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. (1996) (34)
- Isolation and culture of motor neurons from the newborn mouse spinal cord. (2004) (33)
- Molecular and genetic mapping of the mouse mdx locus. (1988) (33)
- High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5. (1992) (32)
- Expression of utrophin and its mRNA in denervated mdx mouse muscle (1995) (32)
- Identification of serum protein biomarkers for utrophin based DMD therapy (2017) (32)
- Utrophin mRNA Expression in Muscle Is Not Restricted to the Neuromuscular Junction (1998) (31)
- Challenges in Duchenne muscular dystrophy 1 This review is based on the first Alan Emery lecture given at Green College, Oxford, on 11th March 1997. 1 (1997) (31)
- Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis (1986) (31)
- A novel gene, DXS8237E, lies within 20 kb upstream of UBE1 in Xp11.23 and has a different X inactivation status. (1996) (31)
- Microarray analysis of mdx mice expressing high levels of utrophin: Therapeutic implications for dystrophin deficiency (2008) (31)
- Localization of the fragile X mental retardation 2 (FMR2) protein in mammalian brain (2000) (30)
- Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies (2016) (30)
- Genome mapping by restriction fingerprinting. (1988) (30)
- Molecular genetics of the human X chromosome. (1985) (30)
- Preconditioning of Cardiosphere-Derived Cells with Hypoxia or Prolyl-4-Hydroxylase Inhibitors Increases Stemness and Decreases Reliance on Oxidative Metabolism (2016) (30)
- Localisation of a dystrophin-related autosomal gene to 6q24 in man, and to mouse chromosome 10 in the region of the dystrophia muscularis (dy) locus (1990) (29)
- Utrophin, the autosomal homologue of dystrophin, is widely‐expressed and membrane‐associated in cultured cell lines (1992) (29)
- The ARRIVE guidelines, a welcome improvement to standards for reporting animal research (2010) (29)
- The gene for X-linked hypophosphataemic rickets maps to a 200–300 kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE) (1996) (29)
- Absent sleep EEG spindle activity in GluA1 (Gria1) knockout mice: relevance to neuropsychiatric disorders (2018) (28)
- Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities. (1996) (28)
- Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype (1997) (28)
- Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation? (1993) (28)
- Clinical, cytogenetic, and molecular analysis of three families with FRAXE. (1997) (28)
- Analysis of mutations in the tudor domain of the survival motor neuron protein SMN (1999) (28)
- The emerging family of dystrophin-related proteins. (1994) (27)
- Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease (2007) (27)
- Report of the committee on the genetic constitution of the X chromosome (Part 1 of 3) (1990) (27)
- Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. (1995) (27)
- The genetic basis of neuromuscular disorders. (1996) (27)
- The potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy (2019) (27)
- Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families. (1990) (27)
- Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA (2001) (27)
- Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy. (2001) (27)
- Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q (1995) (27)
- Laf4/Aff3, a Gene Involved in Intellectual Disability, Is Required for Cellular Migration in the Mouse Cerebral Cortex (2014) (27)
- Association of syncollin and desmin: Linking intermediate filament proteins to the dystrophin-associated protein complex. (2002) (26)
- Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients. (1987) (26)
- Distinct dystrophin mRNA species are expressed in embryonic and adult mouse skeletal muscle (1988) (26)
- Characterization of Ngef, a novel member of the Dbl family of genes expressed predominantly in the caudate nucleus. (2000) (26)
- CARRIER DETECTION IN DUCHENNE MUSCULAR DYSTROPHY BY USE OF CLONED DNA SEQUENCES (1983) (26)
- The antioxidant protein Oxr1 influences aspects of mitochondrial morphology (2016) (26)
- Syncoilin modulates peripherin filament networks and is necessary for large-calibre motor neurons (2010) (26)
- Syncoilin accumulation in two patients with desmin-related myopathy (2003) (26)
- Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family. (1998) (25)
- Towards a mutant map of the mouse – new models of neurological, behavioural, deafness, bone, renal and blood disorders (2004) (25)
- Candidate Screening of the TRPC3 Gene in Cerebellar Ataxia (2011) (25)
- Role of β-Dystrobrevin in Nonmuscle Dystrophin-Associated Protein Complex-Like Complexes in Kidney and Liver (2001) (25)
- The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes. (1995) (25)
- Challenges to oligonucleotides-based therapeutics for Duchenne muscular dystrophy (2011) (25)
- AF4 Is a Critical Regulator of the IGF-1 Signaling Pathway during Purkinje Cell Development (2009) (25)
- Embryonic myosin is a regeneration marker to monitor utrophin-based therapies for DMD (2018) (25)
- Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13. (1995) (25)
- Full‐length and short forms of utrophin, the dystrophin‐related protein (1995) (25)
- Duchenne muscular dystrophy: the gene and the protein. (1989) (25)
- Tissue-selective Expression of α-Dystrobrevin Is Determined by Multiple Promoters* (1999) (25)
- Identification of a New Pmp22 Mouse Mutant and Trafficking Analysis of a Pmp22 Allelic Series Suggesting That Protein Aggregates May Be Protective in Pmp22-Associated Peripheral Neuropathy (2002) (24)
- New insights into behaviour using mouse ENU mutagenesis (2012) (24)
- Human genetic disease analysis: a practical approach (1993) (24)
- The robotic mouse: Unravelling the function of AF4 in the cerebellum (2005) (24)
- Monoclonal antibodies against the muscle-specific N-terminus of dystrophin: characterization of dystrophin in a muscular dystrophy patient with a frameshift deletion of exons 3-7. (1993) (24)
- Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms. (1986) (23)
- Phenotypic heterogeneity and the single gene. (1992) (23)
- Behavioural characterisation of the robotic mouse mutant (2007) (23)
- Abstracts of workshop presentations (Part 13 of 13) (1985) (23)
- Analysis of mutations at the fragile X locus using the DNA probe Ox1.9. (1992) (23)
- Expression profiling in spinal muscular atrophy reveals an RNA binding protein deficit (2004) (23)
- Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27. (1998) (22)
- Cardiac α-actin over-expression therapy in dominant ACTA1 disease. (2013) (22)
- The mutant Moonwalker TRPC3 channel links calcium signaling to lipid metabolism in the developing cerebellum (2015) (21)
- Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy (2004) (21)
- Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome. (1988) (21)
- Report of the committee on the genetic constitution of the X chromosome. (1988) (21)
- MASA syndrome: further clinical delineation and chromosomal localisation (1989) (21)
- Chemical Proteomics and Phenotypic Profiling Identifies the Aryl Hydrocarbon Receptor as a Molecular Target of the Utrophin Modulator Ezutromid (2019) (21)
- Molecular analysis of Duchenne and Becker muscular dystrophies. (1989) (21)
- A 1.8-Mb YAC contig in Xp11.23: identification of CpG islands and physical mapping of CA repeats in a region of high gene density. (1994) (21)
- X-CHROMOSOME-SPECIFIC PROBE DX13 FOR CARRIER DETECTION AND FIRST TRIMESTER PRENATAL DIAGNOSIS IN HAEMOPHILIA A (1984) (21)
- The structure of nucleolar chromatin in Physarum polycephalum. (1978) (21)
- Micro-utrophin Improves Cardiac and Skeletal Muscle Function of Severely Affected D2/mdx Mice (2018) (21)
- Abstracts of workshop presentations (Part 2 of 16) (1987) (20)
- Survival of motor neuron gene downregulation by RNAi: towards a cell culture model of spinal muscular atrophy. (2004) (20)
- Analysis of human neurological disorders using mutagenesis in the mouse. (2005) (20)
- Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy. (2003) (20)
- “Of Mice and Measures”: A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic (2018) (20)
- A Novel Mouse Model of a Patient Mucolipidosis II Mutation Recapitulates Disease Pathology* (2014) (20)
- Intermediate filament-like protein syncoilin in normal and myopathic striated muscle (2007) (20)
- Genomic organization and refined mapping of the mouse β-dystrobrevin gene (1998) (20)
- Linkage studies in a large fragile X family. (1988) (20)
- In vitro transcription of RNA in nuclei, nucleoli and chromatin from physarum polycephalum. (1977) (20)
- Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome (2004) (19)
- Syncoilin upregulation in muscle of patients with neuromuscular disease (2005) (19)
- Abstracts of workshop presentations (Part 6 of 16) (1987) (19)
- Analysis of skeletal muscle function in the C57BL6/SV129 syncoilin knockout mouse (2008) (19)
- New somatic cell hybrids for physical mapping in distal Xq and the fragile X region. (1991) (19)
- Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5' end of the gene. (1987) (18)
- Knockdown of SMN by RNA interference induces apoptosis in differentiated P19 neural stem cells (2007) (18)
- Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families (2004) (17)
- Neuronal over-expression of Oxr1 is protective against ALS-associated mutant TDP-43 mislocalisation in motor neurons and neuromuscular defects in vivo (2019) (17)
- A study of short utrophin isoforms in mice deficient for full-length utrophin (2003) (17)
- Physical mapping distal to the DMD locus. (1990) (17)
- Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes. (1989) (17)
- Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe. (1985) (17)
- Genomic organization and chromosomal localization of a member of the MAP kinase phosphatase gene family to human chromosome 11p15.5 and a pseudogene to 10q11.2. (1997) (16)
- Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele. (1995) (16)
- No Genetic Linkage Detected for Schizophrenia to Xq27–q28 (1991) (16)
- Regenerative biomarkers for Duchenne muscular dystrophy (2019) (16)
- The application of DNA recombinant technology to the analysis of the human genome and genetic disease (1981) (16)
- Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapy. (2009) (16)
- Characterisation of α-dystrobrevin in muscle (1998) (16)
- Gene expression profiling studies on Caenorhabditis elegans dystrophin mutants dys-1(cx-35) and dys-1(cx18). (2006) (16)
- Localization by in situ hybridization of the coagulation factor IX gene and of two polymorphic DNA probes with respect to the fragile X site (2004) (15)
- Dystrophin and utrophin do not play crucial roles in nonmuscle tissues in mice (1999) (15)
- Ets, Ap‐1 and GATA factor families regulate the utrophin B promoter: potential regulatory mechanisms for endothelial‐specific expression (2003) (15)
- Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis (1995) (15)
- Genotype mosaicism in fragile X fetal tissues (1992) (15)
- Regional localization of the TIMP gene on the human X chromosome (1989) (15)
- Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy (2021) (15)
- Muscular dystrophies related to the cytoskeleton/nuclear envelope. (2005) (14)
- Control of RNA transcription in nuclei and nucleoli of Physarum polycephalum (1978) (14)
- Towards a complete linkage map of the human X chromosome. (1986) (14)
- X linked recessive thrombocytopenia. (1993) (14)
- Cloning and developmental expression analysis of ltd-1, the Caenorhabditis elegans homologue of the mouse kyphoscoliosis (ky) gene (2002) (14)
- Report of the committee on the genetic constitution of the X chromosome. (1990) (14)
- Is Good Housekeeping the Key to Motor Neuron Survival? (2008) (14)
- From diagnosis to therapy in Duchenne muscular dystrophy (2020) (14)
- A and B utrophin in human muscle and sarcolemmal A-utrophin associated with tumours (2005) (14)
- Textbook of human genetics (3rd edn): by Max Levitan, Oxford University Press, 1988. £30.00 (viii + 475 pages) ISBN 0 19 504935 7 (1989) (14)
- Use of a chromosome 21 cloned DNA probe for the analysis of non-disjunction in Down syndrome (2004) (14)
- Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1–22.2) (1994) (14)
- Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences. (1983) (14)
- Abstracts of workshop presentations (Part 1 of 13) (1985) (13)
- Human dystrophin gene transfer: production and expression of a functional recombinant DNA-based gene (1991) (13)
- Limitations to adaptive homeostasis in an hyperoxia-induced model of accelerated ageing (2019) (13)
- Molecular analysis of human monogenic diseases (1987) (13)
- Mapping of FMR1, the gene implicated in fragile X-linked mental retardation, on the mouse X chromosome. (1992) (13)
- Cystic fibrosis is not caused by a defect in the gene coding for human complement C3. (1983) (13)
- Activation of mutant protein kinase Cgamma leads to aberrant sequestration and impairment of its cellular function. (2008) (13)
- Syncoilin isoform organization and differential expression in murine striated muscle. (2009) (13)
- Gpr83 expression is not required for the maintenance of intestinal immune homeostasis and regulation of T-cell-dependent colitis (2008) (13)
- Prenatal diagnosis of Duchenne muscular dystrophy by DNA analysis. (1986) (13)
- A study of genetic linkage heterogeneity in adult polycystic kidney disease (1987) (13)
- The era of genomic medicine. (2013) (13)
- DNA studies of X-linked mental retardation associated with a fragile site at Xq27. (1986) (12)
- The Robotic Mouse: Understanding the Role of AF4, a Cofactor of Transcriptional Elongation and Chromatin Remodelling, in Purkinje Cell Function (2009) (12)
- The costs of instability (1992) (12)
- Characterization of a YAC containing part or all of the Norrie disease locus. (1992) (12)
- Engineering exon-skipping vectors expressing U7 snRNA constructs for Duchenne muscular dystrophy gene therapy. (2011) (12)
- DNA amplification of a further exon of Duchenne muscular dystrophy locus increase possibilities for deletion screening. (1989) (12)
- Alternative utrophin mRNAs contribute to phenotypic differences between dystrophin‐deficient mice and Duchenne muscular dystrophy (2018) (12)
- Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases (2013) (12)
- Caudal Additives Do Not Improve the Analgesia Afforded by Levobupivacaine After Hypospadias Repair (2012) (11)
- Calmodulin regulation of utrophin actin binding. (1995) (11)
- Alterations of neuromuscular junctions in Duchenne muscular dystrophy (2020) (11)
- Fragile X mental retardation: current controversies (1986) (11)
- 2-Arylbenzo[d]oxazole phosphinate esters as second-generation modulators of utrophin for the treatment of Duchenne Muscular Dystrophy. (2020) (11)
- Control of backbone chemistry and chirality boost oligonucleotide splice switching activity (2022) (11)
- Developing an integrated paediatric low vision service * (2004) (11)
- Duchenne muscular dystrophy and dystrophin : pathogenesis and opportunities for treatment Third in Molecular Medicine Review Series (2004) (11)
- Patterns of exon deletions in Duchenne and Becker muscular dystrophy (1988) (10)
- Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome (2004) (10)
- Linkage relationships of the gene for apolipoprotein CII with loci on chromosome 19 (2004) (10)
- Cloning the shared components of complex DNA resources. (1994) (10)
- Abstracts of workshop presentations (Part 9 of 13) (1985) (10)
- The solubility of calf thymus chromatin in sodium chloride. (1974) (10)
- Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence. (1991) (10)
- Molecular studies of spinal muscular atrophy (1991) (10)
- Prenatal diagnosis of fragile X syndrome (1991) (10)
- Abstracts of workshop presentations (Part 12 of 16) (1987) (10)
- Genes and phenotypes. (1991) (10)
- Modified patient stem cells as prelude to autologous treatment of muscular dystrophy. (2007) (10)
- Isolation, structural identification, synthesis, and pharmacological profiling of 1,2-trans-dihydro-1,2-diol metabolites of the utrophin modulator ezutromid. (2019) (9)
- Further linkage studies between retinoschisis and cloned dna sequences from the distal xp (1985) (9)
- Utrophin influences mitochondrial pathology and oxidative stress in dystrophic muscle (2017) (9)
- MLP accumulation and remodelling in the infarcted rat heart (2006) (9)
- Genomic organization and refined mapping of the mouse beta-dystrobrevin gene. (1998) (9)
- Increased muscle lim protein expression associated with mild muscular dystrophy and with exercise (2001) (9)
- Report of the committee on the genetic constitution of the X chromosome (Part 7 of 7) (1991) (9)
- Genome maps and neurological disorders (1993) (9)
- Evaluation of neurological mouse mutants caused by ENU mutagenesis (2000) (9)
- Abstracts of workshop presentations (Part 12 of 13) (1985) (9)
- Pulsed-field gel mapping studies in the vicinity of the fragile site at Xq27.3. (1988) (9)
- The Cellular Processing Capacity Limits the Amounts of Chimeric U7 snRNA Available for Antisense Delivery (2012) (9)
- Micro-dystrophin Genes Bring Hope of an Effective Therapy for Duchenne Muscular Dystrophy. (2019) (9)
- Surrogate gene therapy for muscular dystrophy (2019) (9)
- A human regulatory subunit of type II cAMP-dependent protein kinase localized by its linkage relationship to several cloned chromosome 7q markers. (1987) (8)
- Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis (1986) (8)
- Population genetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28. (1997) (8)
- The fragile X syndrome. (1995) (8)
- Deletion of AMPA receptor GluA1 subunit gene (Gria1) causes circadian rhythm disruption and aberrant responses to environmental cues (2021) (8)
- Preparation of radiolabelled hybridization probes by STS labelling. (1992) (8)
- Molecular Analysis of Duchenne Muscular Dystrophy: Past, Present, and Future a (1995) (8)
- Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at D5S681. (1993) (8)
- Abstracts of workshop presentations (Part 15 of 16) (1987) (8)
- An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy. (1994) (8)
- The fragile X syndrome. (1992) (8)
- Xp21 DNA PROBE IN DIAGNOSIS OF MUSCULAR DYSTROPHY AND SPINAL MUSCULAR ATROPHY (1989) (7)
- Abstracts of workshop presentations (Part 10 of 16) (1987) (7)
- Integrated dystrophin analysis using immunocytochemical, biochemical and genetic techniques. (1990) (7)
- The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers (2004) (7)
- Novel transcribed sequences represented in the complex genomic region 5q13. (1996) (7)
- Genome rearrangement and stability (1995) (7)
- Synthesis of SMT022357 enantiomers and in vivo evaluation in a Duchenne muscular dystrophy mouse model (2020) (6)
- Abstracts of workshop presentations pp. 1040-1056 (1989) (6)
- Three DNA markers for hypophosphataemic rickets (1992) (6)
- New markers for linkage analysis of X-linked hypophosphataemic rickets (1993) (6)
- Syncoilin is an intermediate filament protein in activated hepatic stellate cells (2013) (6)
- Molecular basis of inherited diseases (1988) (6)
- Molecular analysis of human X-linked diseases. (1986) (6)
- Fragile X syndrome. (1997) (6)
- Report of the second X Chromosome Workshop Oxford, UK, January 6–7, 1991 (1991) (6)
- Circadian profiling in two mouse models of lysosomal storage disorders; Niemann Pick type-C and Sandhoff disease (2016) (6)
- Genetic linkage relationships between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy (2004) (6)
- Spinal muscular atrophy at the crossroads of basic science and therapy (2013) (6)
- Molecular analysis of human muscular dystrophies (1987) (6)
- Two human cDNA molecules coding for the Duchenne muscular dystrophy (DMD) locus are highly homologous. (1989) (5)
- Abstracts of workshop presentations pp. 948-967 (1989) (5)
- A comprehensive list of cloned eukaryotic genes (1982) (5)
- Principles of Gene Manipulation. An Introduction to Genetic Engineering (1982) (5)
- Studies on pulse-labelled RNA during the mitotic cycle of Physarum polycephalum by subnuclear fractionation. (1978) (5)
- MAPPING OF THE X-LINKED IDIOPATHIC HYPOPARATHYROID GENE TO XQ26-XQ27 BY LINKAGE STUDIES (1989) (5)
- Future Clinical And Biomarker Development For SMT C1100, The First Utrophin Modulator To Enter Clinical Trials For Duchenne Muscular Dystrophy (DMD) (S6.004) (2014) (5)
- An appraisal of the application of recombinant DNA techniques to chromosome defects. (1985) (5)
- Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis (2004) (5)
- Gene expression and its control (1991) (5)
- Abstracts of workshop presentations pp. 1023-1039 (1989) (5)
- Regional localisation of X chromosome short arm probes (1986) (5)
- Localisation of the endpoints of deletions in the 5' region of the Duchenne gene using a sequence isolated by chromosome jumping. (1988) (4)
- Functional studies of Af4 in the robotic mouse. (2003) (4)
- A bidirectional YAC walk from the Norrie disease (NDP) locus. (1995) (4)
- Linkage analysis oftwodonedDNA sequences flanking theDuchenne muscular dystrophy locus on theshort armofthehumanX chromosome (1983) (4)
- Abstracts of workshop presentations (Part 7 of 16) (1987) (4)
- Summary of Human Gene Map, New Haven, HGM – 1, 1973, ‘Data 1' (1989) (4)
- Abstracts of workshop presentations (Part 3 of 16) (1987) (4)
- Abstracts of workshop presentations pp. 1057-1074 (1989) (4)
- Abstracts of workshop presentations (Part 1 of 16) (1987) (4)
- Report of the committee on the genetic constitution of the X chromosome (Part 6 of 7) (1991) (4)
- On the genetic length of the short arm of the human X chromosome (2004) (4)
- A new way to regulate the NMJ (2007) (4)
- Nucleotide and corresponding amino acid sequence of human adult and fetal cDNA coding for portions of the Duchenne muscular dystrophy (DMD) gene. (1988) (4)
- Molecular Genetics of Autosomal Recessive Spinal Muscular Atrophy (1996) (4)
- Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy. (1996) (4)
- Report of the committee on the genetic constitution of the X chromosome (Part 3 of 3) (1989) (4)
- Discovery and mechanism of action studies of 4,6-diphenylpyrimidine-2-carbohydrazides as utrophin modulators for the treatment of Duchenne muscular dystrophy. (2021) (4)
- Recombinant DNA technology in the clinical sciences (1985) (4)
- Keep the directive that protects research animals (2015) (4)
- The role of intermediate filament proteins in the development of neurological disease. (2007) (4)
- Rescue of a single yeast artificial chromosome from a cotransformation event utilizing segregation at meiosis. (1993) (4)
- Gene mapping of mineral metabolic disorders (1989) (3)
- Abstracts of workshop presentations (Part 11 of 13) (1985) (3)
- Abstracts of workshop presentations (Part 4 of 16) (1987) (3)
- Abstracts of workshop presentations (Part 8 of 16) (1987) (3)
- Mutant actins that cause congenital myopathy affect sarcomeric protein expression in patient muscle and produce intranuclear and cytoplasmic aggregates in cultured myoblasts (2004) (3)
- Linkage analysis using multiple DNA polymorphic markers in normal families and in families with fragile X syndrome (1988) (3)
- Industrial Applications of Pure Rare Earth Metals and Related Alloys (1981) (3)
- Strategies for physical mapping (1992) (3)
- Abstracts of workshop presentations pp. 1075-1091 (1989) (3)
- Molecular Analysis and Diagnosis of Duchenne Muscular Dystrophy (1988) (3)
- Evolutionary genomics in Africa. (2021) (3)
- Gene expression profiling studies on Caenorhabditis elegans dystrophin mutants dys-1 ( cx-35 ) and dys-1 ( cx 18 ) (2006) (3)
- MOLECULAR ANALYSIS OF CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY (1995) (3)
- Dinucleotide repeat polymorphism at the DXS556 locus. (1993) (3)
- Recent advances in Duchenne muscular dystrophy. (2012) (3)
- The Long Journey from Diagnosis to Therapy. (2020) (2)
- Confirmation by immunogold labeling that utrophin is localised to the normal position of dystrophin in dystrophin-negative transgenic mouse muscle (2001) (2)
- The implications of genetic variation in human pathology. (1984) (2)
- LOCALIZATION OF THE GENE CAUSING X-LINKED HYPOPHOSPHATEMIC RICKETS (1986) (2)
- Immunogold Confirmation that Utrophin is Localized to the Normal Position of Dystrophin in Dystrophin-negative Transgenic Mouse Muscle (2001) (2)
- Unusual presentation of fragile X syndrome (1990) (2)
- Utrophin modulators to treat Duchenne muscular dystrophy (DMD): Phase 1b Clinical Trial Results of SMT C1100 (P2.006) (2015) (2)
- Abstracts of workshop presentations (Part 11 of 16) (1987) (2)
- The mouse t complex responder locus. (1991) (2)
- Human genetics: conceptual and practical advances in the post-genome era. (2009) (2)
- Abstracts of workshop presentations (Part 5 of 16) (1987) (2)
- Physical mapping of DXS134 close to the DXS52 locus (1989) (2)
- Evaluation of human microdissection clones from the FRAXA region as tools for comparative mapping in the mouse: isolation of a conserved genomic clone close to FMR1 (1994) (2)
- Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice (2022) (2)
- Genetic modelling of muscular dystrophies (1998) (2)
- The characterisation of a 5-S 'monosome' fraction from chromatin of Physarum polycephalum. (1981) (2)
- Abstracts of workshop presentations pp. 1106-1116 (1989) (2)
- Calendar of Events 1992 (1992) (2)
- The Pathogenesis of Duchenne Muscular Dystrophy (2001) (2)
- Abstracts of workshop presentations (Part 14 of 16) (1987) (2)
- P.13.14 Future clinical and biomarker development for SMTC1100, the first utrophin modulator to enter clinical trials for Duchenne Muscular Dystrophy (DMD) (2013) (2)
- Molecular genetic studies in familial Rett syndrome (1997) (2)
- Identification of valid housekeeping genes for quantitative RT-PCR analysis of cardiosphere-derived cells preconditioned under hypoxia or with prolyl-4-hydroxylase inhibitors (2011) (2)
- TaqI RFLP identified by probe 1A1 [DXS374] at Xq28. (1989) (2)
- Linkage analysis in the fragile X syndrome using multiple distal Xq polymorphic DNA markers. (1991) (2)
- The molecular genetics of human monogenic diseases. (1985) (2)
- Prenatal diagnosis ofDuchenne muscular dystrophy byDNA analysis (1986) (2)
- A study of genetic linkage heterogeneity in adult polycystic kidney disease. (1987) (2)
- Decreasing HepG2 Cytotoxicity by Lowering the Lipophilicity of Benzo[d]oxazolephosphinate Ester Utrophin Modulators. (2020) (2)
- New hypervariable DNA markers for mapping human genetic disease (1985) (2)
- Chapter 7 Spinal muscular atrophies and hereditary motor neuropathies. (2007) (2)
- Characterisation of catalytic nucleic acids targeting the survival of motor neuron messenger RNA (2003) (2)
- The mendelian inheritance of a human X chromosome-specific DNA sequence polymorphism and its use in linkage studies of genetic disease (2004) (2)
- Abstracts of workshop presentations (Part 4 of 13) (1985) (2)
- Musculoskeletal diseases: from complex genetics to therapy. (2003) (1)
- The elusive muscular dystrophy gene. Fifth Muscular Dystrophy Group Workshop on the X chromosome and muscular dystrophies, April 1986 (1986) (1)
- Abstracts of workshop presentations (Part 5 of 13) (1985) (1)
- Abstracts of workshop presentations (Part 6 of 13) (1985) (1)
- Abstracts of workshop presentations (Part 16 of 16) (1987) (1)
- EagI andNotI linking clones from human chromosomes 11 and Xp (1996) (1)
- Prenatal prediction ofspinal muscular atrophy (2017) (1)
- Physical mapping studies in Xq27 to Xq28 - analysis of a novel DNA marker close to the fragile site (1989) (1)
- GENETIC AND PHYSICAL MAPPING AROUND THE RETINITIS-PIGMENTOSA (RP2) LOCUS IN XP11.23 (1991) (1)
- Molecular analysis of the fragile X syndrome. (1988) (1)
- Molecular analysis of muscular dystrophy (1988) (1)
- Muscular dystrophy: from gene to patient (2000) (1)
- Localization of two new DNA markers on the linkage map of human chromosome 6q. (1992) (1)
- P06 AAV-U7snRNA mediated multi exon-skipping for Duchenne muscular dystrophy (2011) (1)
- Genomic organization and refined mapping of the mouse b-dystrobrevin gene (1)
- Dystrophin and utrophin are functionally homologous actin binding proteins but act through distinct modes of filament association (2001) (1)
- Chapter 16 Spinal Muscular Atrophy (2003) (1)
- Contents Vol. 55, 1990 (1990) (1)
- Molecular genetics ofthehumanX chromosome (1985) (1)
- Analysis of the transcriptional control of utrophin promoters as a therapeutic strategy for Duchenne muscular dystrophy (DMD). (2000) (1)
- ISOLATION AND CHARACTERIZATION OF HIGHLY POLYMORPHIC MARKERS AND RETINAL CDNAS IN THE VICINITIES OF X-LINKED INHERITED EYE DISEASE LOCI (1991) (1)
- The genetics of amyotrophic lateral sclerosis (2009) (1)
- The Structure and Function of Chromatin in Lower Eukaryotes (1979) (1)
- Exclusion of the gene responsible for facioscapulohumeral muscular dystrophy (FSH) at 6q23-q27 (1991) (1)
- The genetic revolution and medicine in the 21st century (1997) (1)
- 3 NEW DNA MARKERS FOR HYPOPHOSPHATEMIC RICKETS, AND POSSIBLE LOCUS HETEROGENEITY (1991) (1)
- Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA) (1993) (1)
- Abstracts of workshop presentations (Part 9 of 16) (1987) (1)
- An anonymous clone E9pl (D4S112) localised to 4q26-qter detects an Msp I RFLP. (1987) (1)
- CLONED GENE PROBES FOR CARRIER DETECTION IN MUSCULAR DYSTROPHY (1983) (1)
- Genetic linkage relationship between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy. (1983) (1)
- Duchenne Muscular Dystrophy (DMD) Gene (2005) (1)
- Overcoming pharmacokinetic challenges to drug administration in Duchenne muscular dystrophy: Lessons from Phase 1 development of ezutromid (2017) (1)
- Abstracts of workshop presentations (Part 2 of 13) (1985) (1)
- Upgrading U7snRNA To Complete Efficient Rescue of Dystrophin by Exon-Skipping in DMD Patients (2009) (1)
- Abstracts of workshop presentations (Part 7 of 13) (1985) (1)
- Human genetics. The costs of instability. (1992) (1)
- Sex chromosome-specific DNA sequences. (1983) (1)
- Possibilities and problems in genomic diagnosis of Duchenne muscular dystrophy with molecular probes. (1986) (1)
- Mammalian genetics Editorial overview: a sampler of current opinion (1993) (1)
- Analysis of mutations in Survival of Motor Neuron (SMN1) gene through model systems. (2001) (1)
- Molecular analysis of the fragile X syndrome. (1992) (1)
- AN INTEGRATED PHYSICAL, GENETIC AND TRANSCRIPTIONAL MAP IN XP11.23 (1994) (0)
- Regulation of utrophin in transgenic mice. (2005) (0)
- Generation of clusters of dystrophin revertant fibers requires muscle regeneration and tests the function of dystrophin/utrophin transgenes (2004) (0)
- FURTHER LOCALIZATION OF THE GENE FOR X-LINKED HYPOPHOSPHATEMIA (1987) (0)
- A family with a dystrophin gene mutation specifically affecting dystrophin expression in the heart (1994) (0)
- Report of the committee on the genetic constitution of the X chromosome (Part 4 of 7) (1991) (0)
- CLONING OF A LIBRARY REPRESENTATIVE OF THE HUMAN X-CHROMOSOME (1981) (0)
- Genetic Recombination. Understanding the Mechanisms (1983) (0)
- Reply (1993) (0)
- Promoter of utrophingens (1996) (0)
- Syncoilin expression in neuromuscular disorders. (2001) (0)
- NORMAL PUBERTY IN X-LINKED CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA (CCAH) (1993) (0)
- Utrophin in the therapy of Duchenne Muscular Dystrophy (2006) (0)
- Molecular analysis of the fragile X syndrome (1992) (0)
- Identification oftheFRAXE fragile site intwo families ascertained forX linked mental retardation (1993) (0)
- GENETIC AND PHYSICAL MAPPING AROUND THE RP2-LOCUS IN XP11.23 (1991) (0)
- Target identification studies of a utrophin modulator for treatment of Duchenne muscular dystrophy (2019) (0)
- DNA Analysis of Duchenne and Becker Muscular Dystrophies (1986) (0)
- Acupuncture - What is the duration of its analgesic efficacy? (2017) (0)
- The Journal of Gene Medicine now published in association with two major learned societies (2000) (0)
- Results of Testing the First in Class Utrophin Upregulator, SMT C1100, in a Phase 1 Healthy Volunteer Study (P01.119) (2013) (0)
- Molecular mechanisms of OXR1 function (2014) (0)
- Abstracts of workshop presentations (Part 13 of 16) (1987) (0)
- Abstracts of workshop presentations (Part 8 of 13) (1985) (0)
- Novel Delivery of Molecular Therapeutics to the Heart Using Non-biologic Constructs (PPMO/Morpholino) in Muscular Dystrophy (2012) (0)
- 5. Chromosomal localisation of DNA probes for the hypophosphataemic rickets gene (1991) (0)
- Molecular studies of the fragile sites FRAXE and FRAXF (2020) (0)
- Utrophin mRNA expression in muscle is not restricted to the neuromuscular junction. (1998) (0)
- Investigating circadian disruption in mouse models of neurological and metabolic disorders (2013) (0)
- ISOLATION OF GENES FROM A 1.7-MB YAC CONTIG WITHIN THE ESSENTIAL REGION OF X-LINKED EYE DISORDERS (1993) (0)
- Thestructure ofnucleolar chromatin inPhysarum polycephalum (1978) (0)
- Index by Keyword (1989) (0)
- Report of the committee on the genetic constitution of the X chromosome (Part 3 of 7) (1991) (0)
- The Genome. Ram S. Verma (1991) (0)
- A new editor to mark another era in genetics. (2008) (0)
- Human gene-specific and chromosome-specific probes. (1982) (0)
- Investigating the neuroprotective functions of TLDc proteins. (2017) (0)
- Report of the committee on the genetic constitution of the X chromosome (Part 2 of 7) (1991) (0)
- Guidelines for interpreting abbreviations and specialized phrases in committee text and tables (1989) (0)
- LOCALISATION OF THE X-LINKED HYPOPHOSPHATAEMIC RICKETS GENE (1986) (0)
- Expression of different isoforms of utrophin in human muscle; potentials for therapy of Duchenne muscular dystrophy (2004) (0)
- THE BIOKIT — Journey through Molecular Biology, Joël de Rosnay (Ed.). Adam Publishers (1983), 48 pages, ISBN: 965 285 000 4 (1984) (0)
- Up-regulation of utrophin alleviates the dystrophic phenotype in the mdx mouse heart (2000) (0)
- Regional Physical Mapping (1993) (0)
- Regulation of utrophin in transgenic mice (multiple letters) (2005) (0)
- Volume 13 Number 1 1985 Nucleic Acids Research Gene for OTC : characterisation and linkage to Duchenne muscular dystrophy (2005) (0)
- LOCALIZATION OF THE X-LINKED HYPOPHOSPHATEMIC RICKETS GENE (1986) (0)
- Subject index Vol. 46, 1987 (1987) (0)
- A note on the use of HGML LIT literature file numbers (1989) (0)
- Surrogate gene therapy for muscular dystrophy An engineered truncated gene derived from the dystrophin-related protein (utrophin), prevents pathology without an immune response in an animal model of Duchenne muscular dystrophy gene therapy (2020) (0)
- The function and interactions orthologue of the SMN gene: CeSMN (2000) (0)
- Book reviews (1993) (0)
- P26 Rescu of severely affected dystrophin/utrophin deficient mice by morpholino-oligomer mediated exon skipping (2010) (0)
- Changes in cardiac cytoskeletal and GLUT 4 protein expression in Siberian hamsters between activity and torpor (2003) (0)
- Dysregulation of the Tweak/Fn14 pathway in skeletal muscle of spinal muscular atrophy mice (2021) (0)
- Explorer Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy (2017) (0)
- MicroArray analysis of transduced cell lines to study glycyl tRNA synthetase (GARS) related neurodegeneration (2011) (0)
- Letter to the EditorRegulation of utrophin in transgenic mice (2005) (0)
- Molecular Genetics of Neurological and Neuromuscular Disease Edited by S. DiDonato, S. DiMauro, A. Mamoli and L. P. Rowland. ISBN 0 8816 7334 X. Price: $162.50. Raven Press, New York, 1988 (1989) (0)
- Role of (cid:2) -Dystrobrevin in Nonmuscle Dystrophin-Associated Protein Complex-Like Complexes in Kidney and Liver (2001) (0)
- injectionmuscles of the rat after bupivacaine Length-tension relationships are altered in (2015) (0)
- The Centromeric Protein, CEN(P)-F, a Marker of Cell Proliferation Is Regulated by Hypoxia in Human Mesenchymal Stem Cells and Their Bone Marrow Stromal Progeny. (2005) (0)
- IsolaUon and mapping of a polymorphic DNA sequence, DXS312, to Xq27—Xq28 (2005) (0)
- Sonde de detection du syndrome de l'x fragile (1990) (0)
- Syncoilin is an intermediate filament protein in activated hepatic stellate cells (2013) (0)
- The DNA Map (1991) (0)
- Identification of novel genes involved in spinal muscular atrophy using high density microarrays (2002) (0)
- LINKAGE ANALYSIS OF 3 CLONED DNA-SEQUENCES, DXS294, CDR AND DXS105, IN X-LINKED RECESSIVE HYPOPARATHYROID FAMILIES (1991) (0)
- P10 Utrophin modulators to treat Duchenne Muscular Dystrophy (DMD): Future clinical trial plans for SMT C1100 and biomarker development programme (2014) (0)
- G-utrophin , the autosomal homologue of dystrophin Dpll 6 , is expressed in sensory ganglia and brain ( Duchenne muscular dystrophy / alternative transcript / mouse development / neuron ) (2005) (0)
- Understanding the endothelial function of utrophin. (2002) (0)
- P3.02 AAV-U7snRNA mediated multi exon-skipping for Duchenne muscular dystrophy (2010) (0)
- A Cloned Dna Sequence Closely Linked to Haemophilia A (1984) (0)
- Invited Editorial : Phenotypic Heterogeneity and the Single Gene (2006) (0)
- Cloning of the rat utrophin and characterization of an alternate transcript (1996) (0)
- Joël de Rosnay THE BIOKIT — Journey through Molecular Biology (1984) (0)
- Valuable libraries (1987) (0)
- Report of the committee on the genetic constitution of the X chromosome (Part 2 of 3) (1989) (0)
- A new DNA marker, D6S129, identifies a HindIII polymorphism on chromosome 6q. (1991) (0)
- Mapping and sequencing in two intron regions of the human dystrophin gene. (1990) (0)
- CONSTRUCTION AND ANALYSIS OF LINKING LIBRARIES FROM CHROMOSOMES-11 AND XP (1991) (0)
- Duchenne muscular dystrophy: by Alan E. H. Emery, Oxford University Press (Oxford Monographs in Medical Genetics No. 15), 1987. £35.00 (xv + 315 pages) ISBN 0 19 261556 4 (1987) (0)
- The effect of premutation CGG trinucleotide repeat expansion, and expression of FMR-1 protein, on brain anatomy (2002) (0)
- Reduction in SMN gene dosage leads to reduced survival in the G93A SOD1 mouse model of amyotrophic lateral sclerosis (2008) (0)
- MAPPING OF THE GENE CAUSING X-LINKED HYPOPHOSPHATEMIC RICKETS (1986) (0)
- Liver Complex-Like Complexes in Kidney and Dystrophin-Associated Protein -Dystrobrevin in Nonmuscle β Role of (2014) (0)
- Utilisation of albumin to enhance in vivo delivery of sirna across the vascular endothelium (2011) (0)
- Genetics of disease. (1995) (0)
- Subject Index Vol. 60, 1992 (1992) (0)
- Motor Neurons and Microarrays-Understanding the Pathogenesis of Spinal Muscular Atrophy (2003) (0)
- 2015 William Allan Award. (2016) (0)
- Molecular Basis of Inherited Disease (In Focus Series) (1992) (0)
- Multifunctional evaluation of the beneficial effects of utrophin transgene expression in mdx mice. (1997) (0)
- Utrophin upregulation and microRNAs - two avenues of Duchenne muscular dystrophy therapy research (2011) (0)
- Muscling in on gene therapy (1996) (0)
- The use of filter-bound DNA fragments as templates for radiolabelling by random priming. (1989) (0)
- Molecular genetics of the X-linked muscular dystrophies (1985) (0)
- Significant progress in Duchenne muscular dystrophy. (1987) (0)
- The function dystrophin-related and -associated proteins in the brain (1997) (0)
- Abstracts of workshop presentations pp. 1006-1022 (1989) (0)
- Eight cases of 7 p deletion : clinical features , cytogenetic findings , and molecular studies (2013) (0)
- minigenes and gene therapy . deletion : implications for functional with a large intragenic dystrophin Becker muscular dystrophy patient (0)
- Mildandseveremuscular dystrophy associated with deletions inXp2lofthehumanX chromosome (1988) (0)
- [The molecular principles of Duchenne and Becker muscular dystrophy and their genetic diagnosis]. (1989) (0)
- chromosome . proximal short arm of the human X dysfunction ( Aland Island eye disease ) to the Genetic mapping of a cone and rod (0)
- Spinal muscular atrophy in trizygotic triplets (1994) (0)
- The potential use of utrophin in DMD therapy (1999) (0)
- P09 Novel 5′-utrophin isoforms exhibit species-specific transcriptional profiles and provide additional candidates for therapeutic up-regulation in DMD (2012) (0)
- Molecular analysis of X-linked diseases. (1986) (0)
- Molecular Biology and Human Disease edited by Alexander Macleod and Karol Sikora, Blackwell Scientific Publications, 1984. £10.80 (softback) (xi + 271 pages) ISBN 0 632 01167 X (1985) (0)
- Duchenne muscular dystrophy - past, present and future (2002) (0)
- Interview with Professor Kay Davies (2015) (0)
- Genotype/phenotype correlation in childhood autosomal recessive spinal muscular atrophy (SMA) by pulsed field gel analysis. (1997) (0)
- Contents, Vol. 46, 1987/ Title Page / Table of Contents (1987) (0)
- An up-to-date human gene map (1986) (0)
- Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp (2004) (0)
- Screening of deletions in the dystrophin gene with the cDNA probes Cf 23 a , Cf 56 a , and Cfl 15 (2004) (0)
- Abstracts of workshop presentations (Part 10 of 13) (1985) (0)
- Index by Abstract Number (1989) (0)
- Study of two mouse mutants to identify novel neurodegenerative pathways (2010) (0)
- Possible roles for utrophin in gene-therapy of duchenne muscular-dystrophy (1994) (0)
- mice prevents the occurrence of muscle degeneration mdx Hindlimb immobilization applied to 21-day-old (2015) (0)
- A novel dystrophin-associated protein in brain (1997) (0)
- The leading role of STSs in genome mapping. (1993) (0)
- Analysis of complex repeat sequences within the spinal muscular atrophy (SMA) candidate region in 5q13 (1994) (0)
- Gene expression in glycyl tRNA synthetase (GARS) related neurodegeneration (2011) (0)
- The protective function of the oxidation resistance 1 gene in ALS (2017) (0)
- Genetic analysis of multifactorial disease: lessons from type-1 diabetes. (1991) (0)
- Analysis of the survival of motor neuron (SMN1) gene mutations in Spinal Muscular Atrophy through models (2002) (0)
- Increased mitochondrial uncoupling protein 3 is associated with the cardiomyopathy in the dystrophic mouse heart (2006) (0)
- Small molecule utrophin modulators for the therapy of Duchenne muscular dystrophy (DMD) (2018) (0)
- Isolation and characterization of a genomic clone from the murine utrophin locus (2004) (0)
- Mediation of Af4 function in the cerebellum by Siah proteins (2005) (0)
- Report of the committee on the genetic constitution of the X chromosome (Part 5 of 7) (1991) (0)
- MOLECULAR DIAGNOSIS OF MYOTONIC DYSTROPHY. AUTHOR'S REPLY (1993) (0)
- P2. Screening of an oncogenic hypophosphataemic osteomalacia (OHO) tumour cDNA library with YAC clones from a contig encompassing the HYP gene (1994) (0)
- “P MRS studies of skeletal muscle energetics and ionic balance in a new mouse model of Duchenne muscular dystrophy (1999) (0)
- A new microsatellite marker closely linked to the hypophosphataemic rickets locus (1992) (0)
- Minireviews MOLECULAR GENETICS OF AUTOSOMAL RECESSIVE SPINAL MUSCULAR ATROPHY (2007) (0)
- Editorial (0)
- Mutations in tile small heat shock protein lead to selective abnormalities in axonal transport in primary neuronal cultures (2005) (0)
- Localization ofthe DMDL Gene-encoded Dystrophin-related Protein Using a Panel of Nineteen Monoclonal Antibodies: Presence at Neuromuscular Junctions, in the Sarcolemma of Dystrophic Skeletal Muscle, in Vascular and Other Smooth Muscles, and in Proliferating BrainCell Lines (2002) (0)
- Genetic variation and human disease. Principles and evolutionary approaches: by Kenneth M. Weiss, Cambridge University Press, 1993. UK£45.00 (xxiv + 354 pages) ISBN 0 521 33421 7 (1994) (0)
- Report s in a Mouse Model of Schizophrenia (2012) (0)
- Subject index Vol. 40, 1985 (1985) (0)
- Modelling of spinal muscular atrophy in D-melanogaster and C-elegans (2004) (0)
- Clinical useofDNA markers linked tothegenefor Duchenne muscular dystrophy (1984) (0)
- Aland Island eyedisease) totheproximal short armofthehumanX chromosome (1993) (0)
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