Published in Acta Myol on October 01, 2011
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. Acta Myol (2013) 0.89
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
The empowerment of translational research: lessons from laminopathies. Orphanet J Rare Dis (2012) 0.80
Barrier-to-autointegration factor (BAF) involvement in prelamin A-related chromatin organization changes. Oncotarget (2016) 0.78
Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy? Eur J Hum Genet (2016) 0.75
In vitro contracture test results and anaesthetic management of a patient with emery-dreifuss muscular dystrophy for cardiac transplantation. Case Rep Anesthesiol (2012) 0.75
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2000) 1.84
The nuclear envelope at a glance. J Cell Sci (2010) 1.38
Laminopathies and lamin-associated signaling pathways. J Cell Biochem (2011) 1.28
Insulin-like growth factor 1 treatment extends longevity in a mouse model of human premature aging by restoring somatotroph axis function. Proc Natl Acad Sci U S A (2010) 1.21
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet (2003) 1.13
Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle. Cell Death Differ (2011) 1.09
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology (2007) 1.07
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke (2003) 1.05
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
Lamin A precursor induces barrier-to-autointegration factor nuclear localization. Cell Cycle (2010) 1.00
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. Neuromuscul Disord (2005) 0.98
Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts. Biochim Biophys Acta (2011) 0.91
Prelamin A processing and functional effects in restrictive dermopathy. Cell Cycle (2010) 0.91
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. Muscle Nerve (2010) 0.87
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. J Neurol Neurosurg Psychiatry (2005) 0.86
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. Hum Mol Genet (1995) 0.84
Elbow deformities in a patient with mandibuloacral dysplasia type A. Am J Med Genet A (2010) 0.80
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet (1997) 6.85
Left superior vena cava persistence in patients undergoing pacemaker or cardioverter-defibrillator implantation: a 10-year experience. Chest (2001) 5.12
Induction of c-fos-like protein in spinal cord neurons following sensory stimulation. Nature (1987) 4.59
Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy. N Engl J Med (2000) 4.04
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature (1989) 3.75
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet (1998) 3.08
Paroxysmal atrial fibrillation in myotonic dystrophy type 1 patients: P wave duration and dispersion analysis. Eur Rev Med Pharmacol Sci (2015) 2.86
Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology (2008) 2.57
Laron dwarfism and mutations of the growth hormone-receptor gene. N Engl J Med (1989) 2.45
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology (2009) 2.33
The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol (1990) 2.29
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet (1996) 2.22
Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord (2009) 2.13
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology (2006) 2.11
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology (2011) 2.06
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun (1995) 2.06
Effects of metformin on spontaneous and clomiphene-induced ovulation in the polycystic ovary syndrome. N Engl J Med (1998) 2.04
Estimated glomerular filtration rate, albuminuria and mortality in type 2 diabetes: the Casale Monferrato study. Diabetologia (2007) 2.01
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet (2001) 2.00
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology (2007) 1.93
Targeting by affinity-matured recombinant antibody fragments of an angiogenesis associated fibronectin isoform. Nat Biotechnol (1997) 1.85
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology (2005) 1.85
Isolation of CF cell lines corrected at DeltaF508-CFTR locus by SFHR-mediated targeting. Gene Ther (2002) 1.82
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet (1995) 1.82
Obesity and the polycystic ovary syndrome. Int J Obes Relat Metab Disord (2002) 1.77
RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol (2010) 1.75
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology (2008) 1.74
Endogenous cannabinoid system as a modulator of food intake. Int J Obes Relat Metab Disord (2003) 1.74
Cerebellar ataxia and coenzyme Q10 deficiency. Neurology (2003) 1.73
Testosterone levels in obese male patients with obstructive sleep apnea syndrome: relation to oxygen desaturation, body weight, fat distribution and the metabolic parameters. J Endocrinol Invest (2003) 1.71
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A (2001) 1.69
Amyloid deposition as a cause of atrial remodelling in persistent valvular atrial fibrillation. Eur Heart J (2004) 1.66
Effectiveness of loading oral flecainide for converting recent-onset atrial fibrillation to sinus rhythm in patients without organic heart disease or with only systemic hypertension. Am J Cardiol (1992) 1.66
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet (2000) 1.64
The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology (2004) 1.63
Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet (1997) 1.63
Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study. Am J Hum Genet (1988) 1.60
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr (1994) 1.59
Research against incurability. Treatment of lethal neuromuscular diseases focused on Duchenne Muscular Dystrophy. Acta Myol (2004) 1.55
Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells. Eur Respir J (2011) 1.53
Wide spectrum of presentation and variable outcomes of isolated left ventricular non-compaction. Heart (2006) 1.53
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. Neuropediatrics (2007) 1.53
The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences. Genomics (1991) 1.51
Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1. J Invest Dermatol (1999) 1.50
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet (2005) 1.47
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology (2003) 1.45
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A (2008) 1.44
Epilepsia partialis continua and neuronal migration anomalies. Brain Dev (1992) 1.44
[The role of diffusion 3-Tesla MRI in detecting prostate cancer before needle biopsy: multiparametric study of 111 patients]. J Radiol (2010) 1.43
Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment. Cell Mol Life Sci (2005) 1.43
Malignant vasovagal syncope: a randomised trial of metoprolol and clonidine. Heart (1997) 1.42
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet (1996) 1.42
Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome. Mol Med Today (2000) 1.41
Breast density changes associated with hormone replacement therapy in postmenopausal women. Effects on the specificity and sensitivity of mammographic screening. Eur J Gynaecol Oncol (2005) 1.41
Antiarrhythmic benefits of dual chamber stimulation with rate-response in patients with paroxysmal atrial fibrillation and chronotropic incompetence: a prospective, multicentre study. Europace (1999) 1.41
Prenatal diagnosis of triose phosphate isomerase deficiency. Lancet (1989) 1.40
Analysis of 14 cystic fibrosis mutations in five south European populations. Hum Genet (1991) 1.40
Modifications induced by insulin-dependent diabetes mellitus on human placental Na+/K+-adenosine triphosphatase. J Lab Clin Med (1997) 1.39
[Diagnostic contribution of magnetic resonance in clinically suspected arrhythmogenic dysplasia of the right ventricle]. G Ital Cardiol (1996) 1.39
Magnesium pyrrolidone carboxylate infusion reduces angiotensin II pressor response in pregnant women at risk for hypertension. Am J Obstet Gynecol (1992) 1.38
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat (1999) 1.37
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet (1996) 1.36
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. J Med Genet (1999) 1.35
Deflazacort in Duchenne dystrophy: study of long-term effect. Muscle Nerve (1994) 1.34
Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy. J Am Coll Cardiol (1995) 1.33
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet (2001) 1.30
Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21. J Invest Dermatol (2001) 1.28
Evaluation of the cardiomyopathy in Becker muscular dystrophy. Muscle Nerve (1995) 1.27
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology (2004) 1.26
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome. Eur J Hum Genet (1999) 1.24
Neural function: metabolism and actions of inositol metabolites in mammalian brain. Philos Trans R Soc Lond B Biol Sci (1988) 1.24
Lipid protein interactions in mitochondria. Spin and fluorescence probe studies on the effect of n-alkanols on phospholipid vesicles and mitochondrial membranes. Arch Biochem Biophys (1976) 1.24
Glutathione in blood of patients with Friedreich's ataxia. Eur J Clin Invest (2001) 1.22
Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts. Matrix Biol (2001) 1.22
Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21. Am J Hum Genet (1999) 1.21
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet (1998) 1.20
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology (2007) 1.19
Transfer and expression of foreign genes in mammalian cells. Biotechniques (2000) 1.18
Hemimegalencephaly and intractable epilepsy: benefits of hemispherectomy. Epilepsia (1990) 1.16
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Hum Mol Genet (1997) 1.15
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. J Med Genet (2005) 1.15
Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. Clin Genet (2011) 1.14
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. Neuromuscul Disord (2001) 1.14
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet (1997) 1.13
The effect of glutathione and N-acetylcysteine on lipoperoxidative damage in patients with early septic shock. Am J Respir Crit Care Med (2000) 1.13
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet (2003) 1.13
Reduced Na(+)-K(+)-ATPase activity and plasma lysophosphatidylcholine concentrations in diabetic patients. Diabetes (1994) 1.13
Paradoxical reaction during tuberculosis treatment in HIV-seronegative patients. Clin Infect Dis (2006) 1.12
Multilocus analysis of the fragile X syndrome. Hum Genet (1988) 1.12
Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. Neurology (1998) 1.12
Association of single nucleotide polymorphisms in the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction. J Med Genet (2003) 1.12