Published in FASEB J on December 21, 2006
Clathrin-independent carriers form a high capacity endocytic sorting system at the leading edge of migrating cells. J Cell Biol (2010) 1.84
Dysferlin and muscle membrane repair. Curr Opin Cell Biol (2007) 1.82
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet (2010) 1.81
Obesity Resistance and Enhanced Insulin Sensitivity in Ahnak-/- Mice Fed a High Fat Diet Are Related to Impaired Adipogenesis and Increased Energy Expenditure. PLoS One (2015) 1.40
A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides. Ann Clin Transl Neurol (2014) 1.33
Novel protein-protein interactions inferred from literature context. PLoS One (2009) 1.13
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet (2008) 1.12
Genetic manipulation of dysferlin expression in skeletal muscle: novel insights into muscular dystrophy. Am J Pathol (2009) 1.08
Muscle membrane repair and inflammatory attack in dysferlinopathy. Skelet Muscle (2011) 1.08
Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle. PLoS One (2010) 1.06
Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity. PLoS One (2010) 1.00
Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evol Biol (2010) 0.99
Ferlin proteins in myoblast fusion and muscle growth. Curr Top Dev Biol (2011) 0.98
Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. PLoS One (2012) 0.97
Dysferlin interacts with histone deacetylase 6 and increases alpha-tubulin acetylation. PLoS One (2011) 0.96
Characterization of zebrafish dysferlin by morpholino knockdown. Biochem Biophys Res Commun (2011) 0.90
Reverse engineering gene network identifies new dysferlin-interacting proteins. J Biol Chem (2010) 0.90
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. PLoS One (2011) 0.89
Retracted Modular dispensability of dysferlin C2 domains reveals rational design for mini-dysferlin molecules. J Biol Chem (2012) 0.89
Dysferlin regulates cell adhesion in human monocytes. J Biol Chem (2013) 0.89
Annexin A2 complexes with S100 proteins: structure, function and pharmacological manipulation. Br J Pharmacol (2014) 0.87
Dysferlin and animal models for dysferlinopathy. J Toxicol Pathol (2012) 0.86
The S100A10-annexin A2 complex provides a novel asymmetric platform for membrane repair. J Biol Chem (2011) 0.86
The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands. J Pathol (2013) 0.85
Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity. Am J Pathol (2013) 0.84
Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release. J Muscle Res Cell Motil (2011) 0.82
Translational research and therapeutic perspectives in dysferlinopathies. Mol Med (2011) 0.82
Membrane damage-induced vesicle-vesicle fusion of dysferlin-containing vesicles in muscle cells requires microtubules and kinesin. Hum Mol Genet (2013) 0.81
Structure of a C-terminal AHNAK peptide in a 1:2:2 complex with S100A10 and an acetylated N-terminal peptide of annexin A2. Acta Crystallogr D Biol Crystallogr (2012) 0.80
Dynamic interactions between L-type voltage-sensitive calcium channel Cav1.2 subunits and ahnak in osteoblastic cells. Am J Physiol Cell Physiol (2009) 0.79
Periaxin and AHNAK nucleoprotein 2 form intertwined homodimers through domain swapping. J Biol Chem (2014) 0.79
Plasma Membrane Repair: A Central Process for Maintaining Cellular Homeostasis. Physiology (Bethesda) (2015) 0.79
Ahnak1 modulates L-type Ca(2+) channel inactivation of rodent cardiomyocytes. Pflugers Arch (2010) 0.78
Identification of calcium-independent and calcium-enhanced binding between S100B and the dopamine D2 receptor. Biochemistry (2011) 0.77
Proteome Changes Induced by Imatinib and Novel Imatinib Derivatives in K562 Human Chronic Myeloid Leukemia Cells. Proteomes (2014) 0.75
Intermolecular disulfide bond in the dimerization of S-periaxin mediated by Cys88 and Cys139. Acta Biochim Biophys Sin (Shanghai) (2016) 0.75
GRAF1 deficiency blunts sarcolemmal injury repair and exacerbates cardiac and skeletal muscle pathology in dystrophin-deficient mice. Skelet Muscle (2015) 0.75
PLA2R binds to the annexin A2-S100A10 complex in human podocytes. Sci Rep (2017) 0.75
Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms. Nucleic Acids Res (2008) 10.10
Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med (2007) 7.29
LOVD v.2.0: the next generation in gene variant databases. Hum Mutat (2011) 5.53
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol (2009) 5.35
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature (2002) 5.21
A unifying genetic model for facioscapulohumeral muscular dystrophy. Science (2010) 4.87
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat (2008) 4.22
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med (2010) 4.19
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet (2003) 3.60
Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord (2002) 3.52
A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression. Neuron (2004) 3.28
Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain (2012) 3.02
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet (2010) 2.95
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol (2008) 2.95
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet (2009) 2.90
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain (2007) 2.88
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat (2005) 2.86
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat (2009) 2.84
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat (2009) 2.67
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63
High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat (2009) 2.59
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet (2007) 2.54
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories. Nat Biotechnol (2013) 2.53
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet (2009) 2.51
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet (2002) 2.42
The value of data. Nat Genet (2011) 2.40
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet (2005) 2.40
Prorenin induces intracellular signaling in cardiomyocytes independently of angiotensin II. Hypertension (2006) 2.39
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain (2009) 2.38
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet (2007) 2.35
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet (2010) 2.35
Migraine and MTHFR C677T genotype in a population-based sample. Ann Neurol (2006) 2.31
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
SOX2 anophthalmia syndrome. Am J Med Genet A (2005) 2.24
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum Mol Genet (2003) 2.17
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet (2013) 2.11
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet (2008) 2.09
Deep sequencing to reveal new variants in pooled DNA samples. Hum Mutat (2009) 2.04
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat (2004) 1.94
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet (2006) 1.93
Molecular genetics of migraine. Hum Genet (2009) 1.91
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Standardizing mutation nomenclature: why bother? Hum Mutat (2003) 1.80
Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord (2007) 1.80
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals. Atherosclerosis (2009) 1.78
Genetic inflammatory factors predict restenosis after percutaneous coronary interventions. Circulation (2005) 1.78
Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics (2002) 1.75
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet (2003) 1.72
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet (2004) 1.72
Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord (2002) 1.72
Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors. Cardiovasc Res (2009) 1.67
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry (2013) 1.64
Genome-wide association analysis identifies susceptibility loci for migraine without aura. Nat Genet (2012) 1.64
The Drosophila ubiquitin-specific protease dUSP36/Scny targets IMD to prevent constitutive immune signaling. Cell Host Microbe (2009) 1.63
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet (2010) 1.62
Describing structural changes by extending HGVS sequence variation nomenclature. Hum Mutat (2011) 1.62
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat (2006) 1.61
High-resolution whole-genome sequencing reveals that specific chromatin domains from most human chromosomes associate with nucleoli. Mol Biol Cell (2010) 1.56
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet (2002) 1.55
S100B expression defines a state in which GFAP-expressing cells lose their neural stem cell potential and acquire a more mature developmental stage. Glia (2007) 1.54
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection. Clin Chem (2012) 1.52
Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. Am J Hum Genet (2003) 1.52
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain (2007) 1.52
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol (2008) 1.52
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol (2003) 1.51
MALDI-TOF serum protein profiling for the detection of breast cancer. Onkologie (2006) 1.51
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn (2007) 1.50
Migraine is not associated with enhanced atherosclerosis. Cephalalgia (2012) 1.49
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet (2008) 1.49
Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution. Am J Hum Genet (2010) 1.48
Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides. Mol Ther (2004) 1.46
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. Ann Neurol (2005) 1.46
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord (2005) 1.46
Fluorescent labelling of cRNA for microarray applications. Nucleic Acids Res (2003) 1.46
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet (2002) 1.46