Published in Hum Mol Genet on December 01, 2001
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it! J Inherit Metab Dis (2003) 2.01
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet (2009) 1.83
Muscular dystrophies due to glycosylation defects. Neurotherapeutics (2008) 1.51
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. Am J Hum Genet (2013) 1.47
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet (2012) 1.44
Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord (2014) 1.40
Zebrafish models for human FKRP muscular dystrophies. Hum Mol Genet (2009) 1.27
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Brain Pathol (2008) 1.27
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am J Pathol (2004) 1.17
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. J Med Genet (2005) 1.15
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One (2013) 1.14
Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset. Am J Pathol (2008) 1.12
Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage. Nat Clin Pract Neurol (2006) 1.10
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. Hum Mol Genet (2008) 1.10
Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. Neuromuscul Disord (2008) 1.09
Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. Hum Mol Genet (2011) 1.09
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol (2005) 1.08
Congenital muscular dystrophies involving the O-mannose pathway. Curr Mol Med (2007) 1.06
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain (2013) 1.03
Genetic neuromuscular disease. J Neurol Neurosurg Psychiatry (2002) 1.01
Dystroglycan does not contribute significantly to kidney development or function, in health or after injury. Am J Physiol Renal Physiol (2011) 1.00
The dystroglycanopathies: the new disorders of O-linked glycosylation. Semin Pediatr Neurol (2005) 0.99
The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation. Elife (2014) 0.98
Differential glycosylation of α-dystroglycan and proteins other than α-dystroglycan by like-glycosyltransferase. Glycobiology (2011) 0.98
Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance. J Neurol (2006) 0.97
The role of defective glycosylation in congenital muscular dystrophy. Glycoconj J (2004) 0.97
Dystroglycan glycosylation and muscular dystrophy. Glycoconj J (2008) 0.97
Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I. Muscle Nerve (2009) 0.96
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Neurogenetics (2003) 0.96
Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle. PLoS One (2010) 0.95
Conditional knockout of protein O-mannosyltransferase 2 reveals tissue-specific roles of O-mannosyl glycosylation in brain development. J Comp Neurol (2011) 0.94
Muscular dystrophies due to defective glycosylation of dystroglycan. Acta Myol (2007) 0.94
Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity. Skelet Muscle (2011) 0.93
Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions. Mol Ther (2013) 0.93
Mammalian O-mannosylation: unsolved questions of structure/function. Curr Opin Struct Biol (2011) 0.93
RPTPζ/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1. Neuroscience (2012) 0.92
Defects in glycosylation impair satellite stem cell function and niche composition in the muscles of the dystrophic Large(myd) mouse. Stem Cells (2012) 0.92
O-Mannosylation and human disease. Cell Mol Life Sci (2012) 0.91
Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan. J Biol Chem (2012) 0.91
Protein O-mannosylation in animal development and physiology: from human disorders to Drosophila phenotypes. Semin Cell Dev Biol (2010) 0.91
LARGE expression augments the glycosylation of glycoproteins in addition to α-dystroglycan conferring laminin binding. PLoS One (2011) 0.90
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction. PLoS One (2011) 0.89
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. Biochem J (2011) 0.88
Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study. PLoS One (2014) 0.88
Calpain-3 mutations in Turkey. Eur J Pediatr (2006) 0.88
Developmental expression of the neuron-specific N-acetylglucosaminyltransferase Vb (GnT-Vb/IX) and identification of its in vivo glycan products in comparison with those of its paralog, GnT-V. J Biol Chem (2012) 0.87
Sarcolemma instability during mechanical activity in Largemyd cardiac myocytes with loss of dystroglycan extracellular matrix receptor function. Hum Mol Genet (2011) 0.86
Retinal ectopias and mechanically weakened basement membrane in a mouse model of muscle-eye-brain (MEB) disease congenital muscular dystrophy. Mol Vis (2010) 0.86
The potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophy. FEBS J (2013) 0.85
Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I. Neurology (2011) 0.85
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes. Hum Genet (2013) 0.85
Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats. Neuromuscul Disord (2008) 0.84
Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy. Hum Gene Ther (2013) 0.84
Genomic variants and variations in malformations of cortical development. Pediatr Clin North Am (2015) 0.84
Limb-girdle and congenital muscular dystrophies: current diagnostics, management, and emerging technologies. Curr Neurol Neurosci Rep (2010) 0.83
Candidate-gene testing for orphan limb-girdle muscular dystrophies. Acta Myol (2008) 0.83
Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration. J Biol Chem (2012) 0.83
Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene. J Histochem Cytochem (2008) 0.82
LGMD2I in a North American population. BMC Musculoskelet Disord (2007) 0.82
Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery. Mol Ther (2014) 0.81
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genet (2009) 0.81
From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies. Skelet Muscle (2011) 0.81
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. PLoS One (2013) 0.80
Neurons and glia modify receptor protein-tyrosine phosphatase ζ (RPTPζ)/phosphacan with cell-specific O-mannosyl glycans in the developing brain. J Biol Chem (2015) 0.80
Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I. J Neurol (2011) 0.80
Limb-girdle muscular dystrophies - international collaborations for translational research. Nat Rev Neurol (2016) 0.79
Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]. Am J Pathol (2010) 0.79
What do mouse models of muscular dystrophy tell us about the DAPC and its components? Int J Exp Pathol (2014) 0.79
Protein O-mannosylation in metazoan organisms. Curr Protoc Protein Sci (2014) 0.78
Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I. Virchows Arch (2007) 0.78
Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review). Mol Med Rep (2014) 0.78
Breaches of the pial basement membrane are associated with defective dentate gyrus development in mouse models of congenital muscular dystrophies. Neurosci Lett (2011) 0.77
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. J Neurol (2009) 0.77
Prenatal muscle development in a mouse model for the secondary dystroglycanopathies. Skelet Muscle (2016) 0.77
B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I. Am J Pathol (2016) 0.76
Congenital muscular dystrophy: from muscle to brain. Ital J Pediatr (2016) 0.75
An immunological analysis of dystroglycan subunits: lessons learned from a small cohort of non-congenital dystrophic patients. Open Neurol J (2011) 0.75
Postnatal Gene Therapy Improves Spatial Learning Despite the Presence of Neuronal Ectopia in a Model of Neuronal Migration Disorder. Genes (Basel) (2016) 0.75
Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene. Ann Indian Acad Neurol (2011) 0.75
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. BMC Musculoskelet Disord (2016) 0.75
FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies. J Hum Genet (2016) 0.75
Finding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex. Anat Rec (Hoboken) (2014) 0.75
Biochemical and biophysical changes underlie the mechanisms of basement membrane disruptions in a mouse model of dystroglycanopathy. Matrix Biol (2013) 0.75
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. BMC Neurol (2015) 0.75
Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy. Eur J Pediatr (2005) 0.75
Complete sequence analysis of the genome of the bacterium Mycoplasma pneumoniae. Nucleic Acids Res (1996) 10.46
Beclomethasone dipropionate: a new steroid aerosol for the treatment of allergic asthma. Br Med J (1972) 6.28
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med (1999) 5.61
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet (1999) 5.04
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet (1998) 4.75
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet (1999) 4.74
Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy. Cell (1997) 4.38
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet (1998) 4.38
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature (1990) 3.77
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet (1998) 3.76
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet (1998) 3.62
Conversion of bacteriophage fd into an efficient single-stranded DNA vector system. Mol Gen Genet (1980) 3.57
Beclomethasone dipropionate steriod aerosol in treatment of perennial allergic asthma in children. Br Med J (1973) 3.39
A cytometric exercise in plant DNA histograms, with 2C values for 70 species. Biol Cell (1993) 3.32
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell (2001) 3.29
Transposition of a DNA sequence determining kanamycin resistance into the single-stranded genome of bacteriophage fd. Mol Gen Genet (1978) 3.19
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet (1995) 3.05
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet (1993) 2.97
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet (2005) 2.80
Re-annotating the Mycoplasma pneumoniae genome sequence: adding value, function and reading frames. Nucleic Acids Res (2000) 2.79
5-Fluorouracil in colorectal cancer, a never ending story. Ann Oncol (1996) 2.69
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet (2001) 2.66
Deoxyribonucleic acid replication in vitro. J Mol Biol (1972) 2.64
Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell (1999) 2.57
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology (2012) 2.56
Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Thorax (1998) 2.50
Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD). Neuromuscul Disord (2011) 2.47
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest (1990) 2.46
Gene dosage by quantitative real-time PCR. Biotechniques (1999) 2.45
Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice. J Cell Biol (1998) 2.44
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet (2000) 2.40
PDZ domains: targeting signalling molecules to sub-membranous sites. Bioessays (1997) 2.39
Isolation and characterization of thermosensitive Escherichia coli mutants defective in deoxyribonucleic acid replication. J Bacteriol (1973) 2.38
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation (2000) 2.32
Randomized trial of a slow-release versus a standard formulation of cytarabine for the intrathecal treatment of lymphomatous meningitis. J Clin Oncol (1999) 2.29
Comparative analysis of the genomes of the bacteria Mycoplasma pneumoniae and Mycoplasma genitalium. Nucleic Acids Res (1997) 2.28
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A (1999) 2.27
Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III (1994) 2.22
Analysis of three different repeated DNA elements present in the P1 operon of Mycoplasma pneumoniae: size, number and distribution on the genome. Nucleic Acids Res (1990) 2.21
When is referral of Heaf test positive schoolchildren worth while? Prospective study. BMJ (1996) 2.20
Horizontal transmission of HIV infection between two siblings. Lancet (1986) 2.17
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology (2000) 2.16
Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet (1995) 2.16
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet (1996) 2.12
107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands. Neuromuscul Disord (2003) 2.12
Low doses of ethanol activate dopaminergic neurons in the ventral tegmental area. Brain Res (1985) 2.11
Repetitive DNA sequences in Mycoplasma pneumoniae. Nucleic Acids Res (1988) 2.09
Primary structure of dystrophin-related protein. Nature (1992) 2.09
A randomized study of high-dose cytarabine in induction in acute myeloid leukemia. Blood (1996) 2.06
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet (1999) 2.04
Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain. J Biol Chem (2001) 2.04
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet (2000) 2.04
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet (2001) 2.00
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology (2001) 1.97
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A. Nat Med (1999) 1.94
ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins. Trends Biochem Sci (1996) 1.94
Voluntary part-time workers: a growing part of the labor force. Mon Labor Rev (1978) 1.93
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. Nat Genet (1999) 1.93
Physical mapping of the Mycoplasma pneumoniae genome. Nucleic Acids Res (1988) 1.92
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. Hum Mol Genet (1996) 1.91
A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Am J Hum Genet (1991) 1.88
Hereditary spastic paraparesis: a review of new developments. J Neurol Neurosurg Psychiatry (2000) 1.87
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology (2004) 1.87
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol (2000) 1.84
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2000) 1.84
Gastrointestinal involvement in non-Hodgkin's lymphoma. Cancer (1980) 1.82
The central nervous system and carbon monoxide poisoning. II. Anatomical study of brain lesions following intoxication with carbon monixide (22 cases). Prog Brain Res (1967) 1.80
Dermatomyositis, polymyositis, and Coxsackie-B-virus infection. Lancet (1987) 1.80
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet (1992) 1.80
Recombinant human erythropoietin in the treatment of chemotherapy-induced anemia and prevention of transfusion requirement associated with solid tumors: a randomized, controlled study. Ann Oncol (1998) 1.80
Docetaxel (Taxotere)-cisplatin (TC): an effective drug combination in gastric carcinoma. Swiss Group for Clinical Cancer Research (SAKK), and the European Institute of Oncology (EIO). Ann Oncol (2000) 1.79
Analysis of the membrane potential of rat- and mouse-liver mitochondria by flow cytometry and possible applications. Eur J Biochem (1990) 1.79
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology (2005) 1.77
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology (1998) 1.76
RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol (2010) 1.75