Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation.

Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations. BMC Vet Res (2012) 0.82

Mice with RyR1 mutation (Y524S) undergo hypermetabolic response to simvastatin. Skelet Muscle (2013) 0.79

Differential mechanism of the effects of ester-type local anesthetics on sarcoplasmic reticulum Ca-ATPase. Naunyn Schmiedebergs Arch Pharmacol (2013) 0.78

Amide-type local anesthetics action on the sarcoplasmic reticulum Ca-ATPase from fast-twitch skeletal muscle. Naunyn Schmiedebergs Arch Pharmacol (2014) 0.77

Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility. Mol Genet Genomic Med (2014) 0.77

Drug action of benzocaine on the sarcoplasmic reticulum Ca-ATPase from fast-twitch skeletal muscle. Naunyn Schmiedebergs Arch Pharmacol (2015) 0.75

Human mesenchymal stem cells modulate B-cell functions. Blood (2005) 5.12

Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol (2003) 3.46

Direct intrabone transplant of unrelated cord-blood cells in acute leukaemia: a phase I/II study. Lancet Oncol (2008) 2.70

GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63

Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet (2005) 2.36

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord (2007) 2.03

Cancer cell exosomes depend on cell-surface heparan sulfate proteoglycans for their internalization and functional activity. Proc Natl Acad Sci U S A (2013) 2.01

Usefulness and limitations of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy. Eur J Nucl Med Mol Imaging (2010) 1.98

Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation (2009) 1.93

Secondary autoimmune diseases occurring after HSCT for an autoimmune disease: a retrospective study of the EBMT Autoimmune Disease Working Party. Blood (2011) 1.89

Unmanipulated haploidentical bone marrow transplantation and posttransplantation cyclophosphamide for hematologic malignancies after myeloablative conditioning. Biol Blood Marrow Transplant (2012) 1.89

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. Am J Hum Genet (2012) 1.88

Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. Muscle Nerve (2012) 1.88

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol (2010) 1.80

Parietal epithelial cells participate in the formation of sclerotic lesions in focal segmental glomerulosclerosis. J Am Soc Nephrol (2011) 1.80

Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J (2012) 1.77

Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A (2007) 1.74

Loss of heparan sulfate glycosaminoglycan assembly in podocytes does not lead to proteinuria. Kidney Int (2008) 1.73

Boost of CD34+-selected peripheral blood cells without further conditioning in patients with poor graft function following allogeneic stem cell transplantation. Haematologica (2006) 1.73

Large, tissue-regulated domain diversity of heparan sulfates demonstrated by phage display antibodies. J Biol Chem (2002) 1.60

Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci U S A (2008) 1.59

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Nat Med (2014) 1.58

Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol (2004) 1.58

Retracted In vivo degradation of heparan sulfates in the glomerular basement membrane does not result in proteinuria. J Am Soc Nephrol (2007) 1.57

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology (2013) 1.55

Repeated courses of granulocyte colony-stimulating factor in amyotrophic lateral sclerosis: clinical and biological results from a prospective multicenter study. Muscle Nerve (2011) 1.54

Heparan sulfate 6-O-endosulfatases: discrete in vivo activities and functional co-operativity. Biochem J (2006) 1.48

Increased angiogenesis and blood vessel maturation in acellular collagen-heparin scaffolds containing both FGF2 and VEGF. Biomaterials (2006) 1.44

Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets. PLoS One (2013) 1.44

3-O-sulfated oligosaccharide structures are recognized by anti-heparan sulfate antibody HS4C3. J Biol Chem (2005) 1.43

Morphological quantification of emphysema in small human lung specimens: comparison of methods and relation with clinical data. Mod Pathol (2003) 1.42

Plasmodium falciparum ookinetes require mosquito midgut chondroitin sulfate proteoglycans for cell invasion. Proc Natl Acad Sci U S A (2007) 1.33

Preclinical PK and PD studies on 2'-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model. Mol Ther (2010) 1.32

Human mesenchymal stem cells promote survival of T cells in a quiescent state. Stem Cells (2007) 1.31

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics (2002) 1.30

Transgenic or tumor-induced expression of heparanase upregulates sulfation of heparan sulfate. Nat Chem Biol (2007) 1.25

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Ann Neurol (2014) 1.25

Blood stream infections in allogeneic hematopoietic stem cell transplant recipients: reemergence of Gram-negative rods and increasing antibiotic resistance. Biol Blood Marrow Transplant (2009) 1.25

Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies. Neuromuscul Disord (2010) 1.24

Essential alterations of heparan sulfate during the differentiation of embryonic stem cells to Sox1-enhanced green fluorescent protein-expressing neural progenitor cells. Stem Cells (2007) 1.23

Cross-linked type I and type II collagenous matrices for the repair of full-thickness articular cartilage defects--a study in rabbits. Biomaterials (2003) 1.23

The performance of human dental pulp stem cells on different three-dimensional scaffold materials. Biomaterials (2006) 1.22

Aspergillus galactomannan antigen in the cerebrospinal fluid of bone marrow transplant recipients with probable cerebral aspergillosis. J Clin Microbiol (2002) 1.22

Lacrimal gland development and Fgf10-Fgfr2b signaling are controlled by 2-O- and 6-O-sulfated heparan sulfate. J Biol Chem (2011) 1.19

Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis. JACC Cardiovasc Imaging (2011) 1.19

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain (2011) 1.17

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology (2012) 1.17

Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS One (2013) 1.16

Characterization of anti-heparan sulfate phage display antibodies AO4B08 and HS4E4. J Biol Chem (2007) 1.16

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. J Neurol (2012) 1.15

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score. Muscle Nerve (2010) 1.15

Involvement of highly sulfated chondroitin sulfate in the metastasis of the Lewis lung carcinoma cells. J Biol Chem (2008) 1.13

HIV-1 tat protein modulates the generation of cytotoxic T cell epitopes by modifying proteasome composition and enzymatic activity. J Immunol (2004) 1.13

Characterization of the recognition of tumor cells by the natural cytotoxicity receptor, NKp44. Biochemistry (2007) 1.12

The parietal epithelial cell: a key player in the pathogenesis of focal segmental glomerulosclerosis in Thy-1.1 transgenic mice. J Am Soc Nephrol (2004) 1.12

Involvement of chondroitin sulfate E in the liver tumor focal formation of murine osteosarcoma cells. Glycobiology (2009) 1.12

Extracellular sugar modifications provide instructive and cell-specific information for axon-guidance choices. Curr Biol (2008) 1.12

Isolation and characterization of conditionally immortalized mouse glomerular endothelial cell lines. Kidney Int (2004) 1.11

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics (2008) 1.11

Heparan sulfate proteoglycans in glomerular inflammation. Kidney Int (2004) 1.10

Chondroitin 6-sulphate synthesis is up-regulated in injured CNS, induced by injury-related cytokines and enhanced in axon-growth inhibitory glia. Eur J Neurosci (2005) 1.10

Antibody GD3G7 selected against embryonic glycosaminoglycans defines chondroitin sulfate-E domains highly up-regulated in ovarian cancer and involved in vascular endothelial growth factor binding. Am J Pathol (2007) 1.10

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? J Neurol (2013) 1.09

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet (2009) 1.09

Direct detection of HSulf-1 and HSulf-2 activities on extracellular heparan sulfate and their inhibition by PI-88. Glycobiology (2009) 1.09

Reducing transplant-related mortality after allogeneic hematopoietic stem cell transplantation. Haematologica (2004) 1.08

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. J Med Genet (2012) 1.07

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. Arch Neurol (2006) 1.06

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. J Inherit Metab Dis (2011) 1.05

Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype. Neuromuscul Disord (2008) 1.05

Chondroitin sulfate E fragments enhance CD44 cleavage and CD44-dependent motility in tumor cells. Cancer Res (2008) 1.05

The role of mitochondria in neurodegenerative diseases. J Neurol (2011) 1.05

Neuropathology of mitochondrial diseases. Biosci Rep (2007) 1.05

Heparan sulfate phage display antibodies identify distinct epitopes with complex binding characteristics: insights into protein binding specificities. J Biol Chem (2009) 1.05

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain (2013) 1.05

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse. Mol Ther (2009) 1.04

Total intermittent Pringle maneuver during liver resection can induce intestinal epithelial cell damage and endotoxemia. PLoS One (2012) 1.03

The heparan sulfate motif (GlcNS6S-IdoA2S)3, common in heparin, has a strict topography and is involved in cell behavior and disease. J Biol Chem (2010) 1.03

Characterization of the heparin/heparan sulfate binding site of the natural cytotoxicity receptor NKp46. Biochemistry (2005) 1.03

Role of 3-O-sulfated heparan sulfate in virus-induced polykaryocyte formation. FEBS Lett (2007) 1.03