Published in Orphanet J Rare Dis on June 12, 2012
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. Acta Myol (2013) 0.89
Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research? Genet Med (2015) 0.86
The heart and cardiac pacing in Steinert disease. Acta Myol (2012) 0.83
Advances in basic and clinical research in laminopathies. Acta Myol (2013) 0.81
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet (1999) 5.04
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet (1994) 4.11
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90
Laminopathies and lamin-associated signaling pathways. J Cell Biochem (2011) 1.28
Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies. Acta Myol (2011) 1.01
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J (2007) 6.34
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet (2009) 5.93
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Lithium delays progression of amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2008) 5.37
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J (2014) 5.21
T1 mapping for myocardial extracellular volume measurement by CMR: bolus only versus primed infusion technique. JACC Cardiovasc Imaging (2013) 4.21
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
The endogenous cannabinoid system affects energy balance via central orexigenic drive and peripheral lipogenesis. J Clin Invest (2003) 3.62
Noncontrast T1 mapping for the diagnosis of cardiac amyloidosis. JACC Cardiovasc Imaging (2013) 3.53
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet (2007) 3.47
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35
Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA (2007) 3.32
Origin and timing of brain lesions in term infants with neonatal encephalopathy. Lancet (2003) 3.32
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet (2003) 3.15
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med (2010) 3.01
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
The emerging role of the endocannabinoid system in endocrine regulation and energy balance. Endocr Rev (2005) 2.90
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain (2007) 2.88
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Regulation, function, and dysregulation of endocannabinoids in models of adipose and beta-pancreatic cells and in obesity and hyperglycemia. J Clin Endocrinol Metab (2006) 2.72
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet (2010) 2.56
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol (2007) 2.52
Analysis of glutathione: implication in redox and detoxification. Clin Chim Acta (2003) 2.48
Diagnosis and treatment of polycystic ovary syndrome: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab (2013) 2.43
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Kinetic partitioning of protein folding and aggregation. Nat Struct Biol (2002) 2.37
Skin nerve α-synuclein deposits: a biomarker for idiopathic Parkinson disease. Neurology (2014) 2.31
Lectin-like, oxidized low-density lipoprotein receptor-1 (LOX-1): a critical player in the development of atherosclerosis and related disorders. Cardiovasc Res (2005) 2.30
[Takotsubo cardiomyopathy: a consensus document]. G Ital Cardiol (Rome) (2008) 2.26
Sympathetic skin response: basic mechanisms and clinical applications. Clin Auton Res (2003) 2.24
The elusive link between aortic wall histology and echocardiographic anatomy in bicuspid aortic valve: implications for prophylactic surgery. Eur J Cardiothorac Surg (2011) 2.19
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet (2007) 2.17
Prognostic implications of the Doppler restrictive filling pattern in hypertrophic cardiomyopathy. Am J Cardiol (2009) 2.15
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord (2010) 2.14
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol (2002) 2.12
Low intraocular pressure resulting from ciliary body detachment in patients with myotonic dystrophy. Ophthalmology (2011) 2.11
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. Brain (2013) 2.08
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature (2012) 2.08
Presence and duration of atrial fibrillation detected by continuous monitoring: crucial implications for the risk of thromboembolic events. J Cardiovasc Electrophysiol (2008) 2.07
Reversibility of GERD ultrastructural alterations and relief of symptoms after omeprazole treatment. Am J Gastroenterol (2005) 2.06
MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1. Circulation (2009) 2.05
Insulin-dependent activation of endothelial nitric oxide synthase is impaired by O-linked glycosylation modification of signaling proteins in human coronary endothelial cells. Circulation (2002) 2.02
Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment. Neuromuscul Disord (2012) 2.01
Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. Circ Cardiovasc Imaging (2013) 1.99
Interventricular delay interval optimization in cardiac resynchronization therapy guided by echocardiography versus guided by electrocardiographic QRS interval width. Am J Cardiol (2008) 1.99
'Spindle cell oncocytoma' of the adenohypophysis: a tumor of folliculostellate cells? Am J Surg Pathol (2002) 1.98
Female fetuses are more reactive when mother eats chocolate. J Matern Fetal Neonatal Med (2013) 1.97
Left ventricular pacing rate lower than expected during manual pacing threshold test in a biventricular defibrillator. Europace (2012) 1.97
Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol (2008) 1.97
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet (2003) 1.95
Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation (2009) 1.93
Serial versus isolated assessment of clinical and instrumental parameters in heart failure: prognostic and therapeutic implications. Am Heart J (2003) 1.93
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet (2009) 1.93
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. FASEB J (2007) 1.92
Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy. Radiology (2005) 1.90
Dilated-hypokinetic evolution of hypertrophic cardiomyopathy: prevalence, incidence, risk factors, and prognostic implications in pediatric and adult patients. J Am Coll Cardiol (2005) 1.90
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet (2004) 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
Syncope and risk of sudden death in hypertrophic cardiomyopathy. Circulation (2009) 1.85
Therapeutic Clearance of Amyloid by Antibodies to Serum Amyloid P Component. N Engl J Med (2015) 1.84
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Awake thoracoscopic biopsy of interstitial lung disease. Ann Thorac Surg (2012) 1.82
Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol (2010) 1.81
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet (2003) 1.81