Published in J Inherit Metab Dis on August 12, 2006
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol (2009) 2.54
Genomic features defining exonic variants that modulate splicing. Genome Biol (2010) 1.46
Barth syndrome. Orphanet J Rare Dis (2013) 1.33
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn (2010) 1.17
TMEM70 deficiency: long-term outcome of 48 patients. J Inherit Metab Dis (2014) 0.99
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis. J Inherit Metab Dis (2012) 0.96
New clinical and molecular insights on Barth syndrome. Orphanet J Rare Dis (2013) 0.95
Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review. Eur J Pediatr (2007) 0.89
Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach. J Multidiscip Healthc (2015) 0.75
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80
Genetic structure of Europeans: a view from the North-East. PLoS One (2009) 3.46
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37
Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. Aging Cell (2006) 3.24
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med (2011) 3.21
New gene functions in megakaryopoiesis and platelet formation. Nature (2011) 3.14
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet (2012) 3.04
Seventy-five genetic loci influencing the human red blood cell. Nature (2012) 2.77
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol (2009) 2.21
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord (2010) 2.14
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet (2012) 2.12
General population low-count CLL-like MBL persists over time without clinical progression, although carrying the same cytogenetic abnormalities of CLL. Blood (2011) 1.96
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet (2010) 1.87
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol (2006) 1.86
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genet (2005) 1.71
Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genet (2012) 1.68
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet (2004) 1.66
Multiple loci are associated with white blood cell phenotypes. PLoS Genet (2011) 1.65
Variation of hemoglobin levels in normal Italian populations from genetic isolates. Haematologica (2008) 1.57
Age-related iron deposition in the basal ganglia: quantitative analysis in healthy subjects. Radiology (2009) 1.56
Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem (2001) 1.52
A genome-wide association study of early menopause and the combined impact of identified variants. Hum Mol Genet (2013) 1.50
Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med (2012) 1.44
TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals. Blood (2011) 1.39
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat (2004) 1.36
The enigmatic role of tafazzin in cardiolipin metabolism. Biochim Biophys Acta (2009) 1.35
Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. J Med Genet (2011) 1.28
Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial. Mov Disord (2011) 1.21
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. Eur J Med Genet (2008) 1.20
Age- and sex-related variations in platelet count in Italy: a proposal of reference ranges based on 40987 subjects' data. PLoS One (2013) 1.19
Evidence of inbreeding depression on human height. PLoS Genet (2012) 1.16
New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry. Anal Chem (2009) 1.15
Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. Mov Disord (2008) 1.15
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure. Hum Mol Genet (2008) 1.15
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. Hum Mol Genet (2002) 1.15
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Hum Reprod (2006) 1.14
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. Hum Mol Genet (2012) 1.14
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations. Mol Genet Metab (2011) 1.13
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Eur J Pediatr (2005) 1.13
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. Eur J Hum Genet (2012) 1.12
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. PLoS Genet (2013) 1.12
Mutation screening of the DYT6/THAP1 gene in Italy. Mov Disord (2009) 1.11
Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes. PLoS One (2009) 1.11
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. Mov Disord (2008) 1.06
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Hum Mutat (2008) 1.06
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
The pathophysiology of retinopathy of prematurity: an update of previous and recent knowledge. Acta Ophthalmol (2013) 1.05
Increased serum hepcidin levels in subjects with the metabolic syndrome: a population study. PLoS One (2012) 1.05
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord (2003) 1.04
Phenobarbital for neonatal seizures in hypoxic ischemic encephalopathy: a pharmacokinetic study during whole body hypothermia. Epilepsia (2011) 1.03
Odorant-binding proteins and chemosensory proteins in pheromone detection and release in the silkmoth Bombyx mori. Chem Senses (2011) 1.01
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Hum Mutat (2005) 1.01
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. Hum Mutat (2009) 1.00
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J Neurol (2009) 0.99
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J (2003) 0.98
Mice deficient for the synaptic vesicle protein Rab3a show impaired spatial reversal learning and increased explorative activity but none of the behavioral changes shown by mice deficient for the Rab3a regulator Gdi1. Eur J Neurosci (2004) 0.97
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta (2011) 0.97
Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots. Clin Chim Acta (2008) 0.97
N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. Neonatology (2009) 0.97
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases. Orphanet J Rare Dis (2013) 0.96
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. Eur J Hum Genet (2008) 0.96
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro. Lab Invest (2008) 0.96
Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological. Br J Haematol (2011) 0.95
New clinical and molecular insights on Barth syndrome. Orphanet J Rare Dis (2013) 0.95
Topiramate concentrations in neonates treated with prolonged whole body hypothermia for hypoxic ischemic encephalopathy. Epilepsia (2009) 0.95
Inherited genetic susceptibility to monoclonal B-cell lymphocytosis. Blood (2010) 0.94
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis (2012) 0.94
Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training. Hum Mol Genet (2008) 0.94
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation. Semin Pediatr Neurol (2012) 0.93
Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. Am J Epidemiol (2013) 0.93
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. Hum Mutat (2004) 0.92
LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I. Anal Chem (2011) 0.91
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. Hum Genet (2007) 0.91
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor. Mol Genet Metab (2004) 0.91
Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. Am J Med Genet A (2006) 0.90
Lysosomal storage disorders: molecular basis and laboratory testing. Hum Genomics (2011) 0.90
Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation. Brain Dev (2011) 0.90
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. Neuromuscul Disord (2002) 0.90
Galactosialidosis: review and analysis of CTSA gene mutations. Orphanet J Rare Dis (2013) 0.90
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient. Eur J Paediatr Neurol (2008) 0.90
The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs. Rapid Commun Mass Spectrom (2008) 0.89
Parkin analysis in early onset Parkinson's disease. Parkinsonism Relat Disord (2007) 0.89
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. Biochem Biophys Res Commun (2009) 0.89
Genetic polymorphisms of antioxidant enzymes as risk factors for oxidative stress-associated complications in preterm infants. Free Radic Res (2012) 0.89