Published in Ann Neurol on January 01, 2009
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet (2011) 2.38
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circ Cardiovasc Genet (2012) 1.78
BAG3: a multifaceted protein that regulates major cell pathways. Cell Death Dis (2011) 1.77
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet (2012) 1.75
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. Eur Heart J (2011) 1.67
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest (2009) 1.63
Aggrephagy: selective disposal of protein aggregates by macroautophagy. Int J Cell Biol (2012) 1.52
Myofibrillar myopathies. Neuromuscul Disord (2011) 1.45
BAG3 and Hsc70 interact with actin capping protein CapZ to maintain myofibrillar integrity under mechanical stress. Circ Res (2010) 1.41
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol (2012) 1.35
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet (2012) 1.31
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Hum Mutat (2012) 1.25
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord (2010) 1.25
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology (2015) 1.14
The stress protein BAG3 stabilizes Mcl-1 protein and promotes survival of cancer cells and resistance to antagonist ABT-737. J Biol Chem (2013) 1.11
In vivo modeling of the morbid human genome using Danio rerio. J Vis Exp (2013) 1.03
Myofibrillar myopathies. Curr Opin Neurol (2008) 1.00
The sarcomeric Z-disc and Z-discopathies. J Biomed Biotechnol (2011) 0.99
BAG3: a new player in the heart failure paradigm. Heart Fail Rev (2015) 0.98
Chaperones in autophagy. Pharmacol Res (2012) 0.95
Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathy. J Cell Physiol (2014) 0.94
Filamin C-related myopathies: pathology and mechanisms. Acta Neuropathol (2012) 0.93
Molecular chaperones and neuronal proteostasis. Semin Cell Dev Biol (2015) 0.91
Induction and adaptation of chaperone-assisted selective autophagy CASA in response to resistance exercise in human skeletal muscle. Autophagy (2015) 0.90
The nucleotide exchange factors of Hsp70 molecular chaperones. Front Mol Biosci (2015) 0.89
Myofibrillar myopathies: new developments. Curr Opin Neurol (2013) 0.89
BAG3 directly interacts with mutated alphaB-crystallin to suppress its aggregation and toxicity. PLoS One (2011) 0.87
Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy. J Proteomics (2013) 0.87
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy. Ann Neurol (2011) 0.87
BAG3 regulates contractility and Ca(2+) homeostasis in adult mouse ventricular myocytes. J Mol Cell Cardiol (2016) 0.86
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation. J Transl Med (2014) 0.86
Down-modulation of Bis reduces the invasive ability of glioma cells induced by TPA, through NF-κB mediated activation of MMP-9. BMB Rep (2014) 0.86
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. Acta Myol (2011) 0.84
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. Orphanet J Rare Dis (2014) 0.84
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. Skelet Muscle (2013) 0.83
BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome. J Muscle Res Cell Motil (2015) 0.81
A novel miR-371a-5p-mediated pathway, leading to BAG3 upregulation in cardiomyocytes in response to epinephrine, is lost in Takotsubo cardiomyopathy. Cell Death Dis (2015) 0.81
Distal myopathies. Neurol Clin (2014) 0.80
Bcl-2-associated athanogene 3 protects the heart from ischemia/reperfusion injury. JCI Insight (2016) 0.80
Cardiomyocyte-Specific Human Bcl2-Associated Anthanogene 3 P209L Expression Induces Mitochondrial Fragmentation, Bcl2-Associated Anthanogene 3 Haploinsufficiency, and Activates p38 Signaling. Am J Pathol (2016) 0.79
Myosin heavy chain is stabilized by BCL-2 interacting cell death suppressor (BIS) in skeletal muscle. Exp Mol Med (2016) 0.79
A Role for the Chaperone Complex BAG3-HSPB8 in Actin Dynamics, Spindle Orientation and Proper Chromosome Segregation during Mitosis. PLoS Genet (2015) 0.79
Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D. Hum Mol Genet (2015) 0.79
Chaperone-assisted proteostasis is essential for mechanotransduction in mammalian cells. Commun Integr Biol (2013) 0.79
Two desmin gene mutations associated with myofibrillar myopathies in Polish families. PLoS One (2014) 0.78
Getting folded: chaperone proteins in muscle development, maintenance and disease. Anat Rec (Hoboken) (2014) 0.78
A BAG3 Coding Variant in Mice Determines Susceptibility to Ischemic Limb Muscle Myopathy by Directing Autophagy. Circulation (2017) 0.78
Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy. J Clin Invest (2017) 0.77
The Hippo signal transduction network for exercise physiologists. J Appl Physiol (1985) (2016) 0.77
The balanced regulation of Hsc70 by DNJ-13 and UNC-23 is required for muscle functionality. J Biol Chem (2014) 0.77
Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene. PLoS One (2016) 0.77
The role of heat shock proteins and co-chaperones in heart failure. Philos Trans R Soc Lond B Biol Sci (2018) 0.76
Diagnosis of muscle diseases presenting with early respiratory failure. J Neurol (2014) 0.76
Expression of Bis in the mouse gastrointestinal system. Anat Cell Biol (2012) 0.76
PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction. Hum Mol Genet (2015) 0.76
Disrupted autophagy undermines skeletal muscle adaptation and integrity. Mamm Genome (2016) 0.75
A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy. Hum Genome Var (2015) 0.75
Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches. J Neuromuscul Dis (2017) 0.75
Common Variants for Heart Failure. Curr Genomics (2015) 0.75
An interaction study in mammalian cells demonstrates weak binding of HSPB2 to BAG3, which is regulated by HSPB3 and abrogated by HSPB8. Cell Stress Chaperones (2017) 0.75
Granulostasis: Protein Quality Control of RNP Granules. Front Mol Neurosci (2017) 0.75
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing. PLoS One (2016) 0.75
Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy. PLoS One (2017) 0.75
Mitochondrial dysfunction in myofibrillar myopathy. Neuromuscul Disord (2016) 0.75
Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. J Muscle Res Cell Motil (2016) 0.75
Clinical Characteristics and Treatment of Cardiomyopathies in Children. Curr Cardiol Rev (2016) 0.75
Adeno-associated Virus Serotype 9 - Driven Expression of BAG3 Improves Left Ventricular Function in Murine Hearts with Left Ventricular Dysfunction Secondary to a Myocardial Infarction. JACC Basic Transl Sci (2016) 0.75
NFκB is a central regulator of protein quality control in response to protein aggregation stresses via autophagy modulation. Mol Biol Cell (2016) 0.75
Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death. Pediatr Cardiol (2017) 0.75
The Role of the Multifunctional BAG3 Protein in Cellular Protein Quality Control and in Disease. Front Mol Neurosci (2017) 0.75
Hsp27 negatively regulates cell death by interacting with cytochrome c. Nat Cell Biol (2000) 4.89
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet (1998) 4.75
The nucleolus: an old factory with unexpected capabilities. Trends Cell Biol (2000) 2.97
Molecular chaperone targeting and regulation by BAG family proteins. Nat Cell Biol (2001) 2.61
Mutations in myotilin cause myofibrillar myopathy. Neurology (2004) 2.41
Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet (1998) 2.17
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med (2000) 2.04
HspB8 chaperone activity toward poly(Q)-containing proteins depends on its association with Bag3, a stimulator of macroautophagy. J Biol Chem (2007) 2.02
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet (2005) 1.95
BAG3 deficiency results in fulminant myopathy and early lethality. Am J Pathol (2006) 1.90
Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol (2005) 1.80
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain (2004) 1.80
Desmin myopathy. Brain (2004) 1.79
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol (2003) 1.77
What's in the 'BAG'?--A functional domain analysis of the BAG-family proteins. Cancer Lett (2002) 1.69
A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci U S A (1998) 1.61
Zaspopathy in a large classic late-onset distal myopathy family. Brain (2007) 1.47
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest (2008) 1.46
Myotilinopathy: refining the clinical and myopathological phenotype. Brain (2005) 1.37
The anti-apoptotic protein BAG-3 is overexpressed in pancreatic cancer and induced by heat stress in pancreatic cancer cell lines. FEBS Lett (2001) 1.37
Isolation of Bcl-2 binding proteins that exhibit homology with BAG-1 and suppressor of death domains protein. Biochem Biophys Res Commun (2001) 1.33
Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol (1996) 1.27
Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol (1996) 1.22
BAG3 protein regulates stress-induced apoptosis in normal and neoplastic leukocytes. Leukemia (2004) 1.22
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol (2007) 1.05
Myopathy-associated alphaB-crystallin mutants: abnormal phosphorylation, intracellular location, and interactions with other small heat shock proteins. J Biol Chem (2007) 1.02
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch Neurol (2004) 1.01
Primary desminopathies. J Cell Mol Med (2007) 0.97
Dysferlinopathy associated with rigid spine syndrome. Neuropathology (2004) 0.93
Influence of proline on the thermostability of the active site and membrane arrangement of transmembrane proteins. Biophys J (2008) 0.87
Myofibrillar myopathy: no evidence of apoptosis by TUNEL. Neurology (1999) 0.81
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
Recent advances in Cys-loop receptor structure and function. Nature (2006) 4.20
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet (2011) 3.97
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain (2007) 2.88
Dystroglycanopathies: coming into focus. Curr Opin Genet Dev (2011) 2.75
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet (2003) 2.69
Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci U S A (2003) 2.65
A mutation in the thyroid hormone receptor alpha gene. N Engl J Med (2011) 2.62
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol (2003) 2.47
Mutations in myotilin cause myofibrillar myopathy. Neurology (2004) 2.41
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
Lack of myostatin results in excessive muscle growth but impaired force generation. Proc Natl Acad Sci U S A (2007) 2.25
Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain (2006) 2.22
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. Am J Med Genet A (2005) 2.16
Correlation of muscle biopsy, clinical course, and outcome in PM and sporadic IBM. Neurology (2007) 2.14
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord (2010) 2.14
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
Electromyographic findings in 37 patients with adult-onset acid maltase deficiency. Muscle Nerve (2015) 2.07
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. J Neurol Neurosurg Psychiatry (2012) 2.05
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat (2008) 2.04
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord (2007) 2.03
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.94
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet (2012) 1.93
Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging (2007) 1.91
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol (2010) 1.80
Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol (2005) 1.80
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain (2004) 1.80
Muscular dystrophies. Lancet (2013) 1.79
Common Data Elements for Muscle Biopsy Reporting. Arch Pathol Lab Med (2015) 1.78
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. J Med Genet (2006) 1.78
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol (2003) 1.77
Canonical Wnt signalling induces satellite-cell proliferation during adult skeletal muscle regeneration. J Cell Sci (2008) 1.68
A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med (2011) 1.67
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab (2007) 1.64
The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol (2003) 1.64
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Hum Mol Genet (2005) 1.61
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat (2006) 1.61
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology (2013) 1.61
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet (2002) 1.61
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science (2013) 1.57
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab (2013) 1.57
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology (2013) 1.55
Are MuSK antibodies the primary cause of myasthenic symptoms? Neurology (2004) 1.54
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord (2004) 1.52
Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry (2013) 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
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet (2013) 1.51
Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A (2003) 1.50
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet (2013) 1.50
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation. Neuromuscul Disord (2010) 1.50
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain (2012) 1.50
Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. Neurology (2012) 1.49
Chronic systemic therapy with low-dose morpholino oligomers ameliorates the pathology and normalizes locomotor behavior in mdx mice. Mol Ther (2010) 1.48
Prevention of extubation failure in high-risk patients with neuromuscular disease. J Crit Care (2011) 1.48
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. Am J Hum Genet (2013) 1.47
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46
Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain (2007) 1.46
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord (2005) 1.46
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest (2008) 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
High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system. Mol Genet Metab (2013) 1.45
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol (2003) 1.44
Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets. PLoS One (2013) 1.44
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. Neuromuscul Disord (2011) 1.41
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet (2004) 1.38
The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy. Mol Ther (2010) 1.38
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Am J Med Genet A (2007) 1.37
Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. J Clin Invest (2003) 1.36
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. Neuromuscul Disord (2005) 1.35
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. PLoS One (2013) 1.34
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol (2008) 1.34
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul Disord (2010) 1.34
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. J Clin Invest (2010) 1.33
Gene expression profiling in dysferlinopathies using a dedicated muscle microarray. Hum Mol Genet (2002) 1.32
Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol (2011) 1.32
Sporadic late onset nemaline myopathy. Neurology (2005) 1.32
Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy. Physiother Res Int (2011) 1.31
Contribution of human muscle-derived cells to skeletal muscle regeneration in dystrophic host mice. PLoS One (2011) 1.31
Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy. Mol Ther (2011) 1.30
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
International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: a tool for potential use in clinical trials. Arthritis Rheum (2007) 1.28
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord (2007) 1.28
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr (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
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol (2003) 1.26
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1. Am J Hum Genet (2013) 1.25
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Ann Neurol (2012) 1.25
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord (2010) 1.24