Published in Dev Med Child Neurol on May 18, 2011
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). Curr Neuropharmacol (2013) 1.20
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. Eur J Hum Genet (2011) 1.18
Neurodegeneration with brain iron accumulation: a diagnostic algorithm. Semin Pediatr Neurol (2012) 1.04
Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA). J Neural Transm (Vienna) (2012) 0.88
Identification of cis-regulatory sequence variations in individual genome sequences. Genome Med (2011) 0.82
Human genetic disorders of sphingolipid biosynthesis. J Inherit Metab Dis (2014) 0.81
2'-Hydroxy ceramide in membrane homeostasis and cell signaling. Adv Biol Regul (2013) 0.80
Heterozygous FA2H mutations in autism spectrum disorders. BMC Med Genet (2013) 0.76
'Ictal epileptic headache': recent concepts for new classifications criteria. Cephalalgia (2012) 3.19
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood (2011) 2.29
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica (2007) 2.23
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. Genome Biol (2013) 1.90
Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. Muscle Nerve (2012) 1.88
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
CpG drives human transitional B cells to terminal differentiation and production of natural antibodies. J Immunol (2008) 1.77
Unusual variants of Alexander's disease. Ann Neurol (2005) 1.76
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med (2011) 1.62
Variables associated with severe hypoglycemia in children and adolescents with type 1 diabetes: a population-based study. Pediatr Diabetes (2010) 1.59
Panayiotopoulos syndrome: a consensus view. Dev Med Child Neurol (2006) 1.56
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol (2011) 1.55
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat (2009) 1.54
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. Dev Med Child Neurol (2010) 1.47
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. Haematologica (2002) 1.46
Levetiracetam in absence epilepsy. Dev Med Child Neurol (2008) 1.46
Primary headache: role of investigations in a cohort of young children and adolescents. Pediatr Int (2011) 1.42
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. Eur J Pediatr (2009) 1.38
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain (2002) 1.37
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet (2011) 1.37
Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney Dis (2003) 1.36
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int (2004) 1.35
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat (2008) 1.34
ANKRD26-related thrombocytopenia and myeloid malignancies. Blood (2013) 1.32
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. Eur J Hum Genet (2013) 1.27
Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease. Int J Mol Med (2006) 1.26
Read count approach for DNA copy number variants detection. Bioinformatics (2011) 1.23
Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p. Hum Hered (2007) 1.19
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat (2013) 1.15
Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Cerebellum (2008) 1.13
Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations. Schizophr Bull (2014) 1.10
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain (2005) 1.09
Motor coordination impairment and migraine in children: a new comorbidity? Eur J Pediatr (2012) 1.09
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. Am J Med Genet A (2012) 1.08
In utero exposure to phthalates and fetal development. Curr Med Chem (2006) 1.08
Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia. Eur J Anaesthesiol (2011) 1.08
Metabolic and endocrine effects of valproic acid chronic treatment. Epilepsy Res (2013) 1.06
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. Neuromuscul Disord (2006) 1.06
EX-HOM (EXome HOMozygosity): a proof of principle. Hum Hered (2011) 1.06
Genetic polymorphisms and idiopathic generalized epilepsies. Pediatr Neurol (2007) 1.06
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene. Hum Mutat (2005) 1.06
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. Am J Med Genet A (2007) 1.03
Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome. J Pediatr (2013) 1.02
Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI). Ann Hum Genet (2011) 1.01
Withdrawal of antiepileptic drugs: guidelines of the Italian League Against Epilepsy. Epilepsia (2013) 1.01
Weak linkage at 4p16 to predisposition for human neuroblastoma. Oncogene (2002) 1.00
The relationship between sleep and epilepsy: the effect on cognitive functioning in children. Dev Med Child Neurol (2010) 1.00
Levetiracetam or oxcarbazepine as monotherapy in newly diagnosed benign epilepsy of childhood with centrotemporal spikes (BECTS): an open-label, parallel group trial. Brain Dev (2006) 0.99
The adverse event profile of lacosamide: a systematic review and meta-analysis of randomized controlled trials. Epilepsia (2012) 0.99
Early prednisone treatment in Duchenne muscular dystrophy. Muscle Nerve (2003) 0.98
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. Eur J Hum Genet (2012) 0.98
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Thromb Haemost (2010) 0.98
Topiramate effects on plasma serotonin levels in children with epilepsy. Epilepsy Res (2008) 0.98
Clinical and genetic characterization of Chanarin-Dorfman syndrome. Biochem Biophys Res Commun (2008) 0.97
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability. Am J Med Genet A (2003) 0.97
Hypoglycemia, hypoglycemia unawareness and counterregulation in children and adolescents with type 1 diabetes mellitus. J Pediatr Endocrinol Metab (2005) 0.97
Plasticizers, infant nutrition and reproductive health. Reprod Toxicol (2004) 0.97
Headache and cognitive profile in children: a cross-sectional controlled study. J Headache Pain (2009) 0.96
"Comorbidity" between epilepsy and headache/migraine: the other side of the same coin! J Headache Pain (2011) 0.96
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. Eur J Hum Genet (2005) 0.95
Mutations of the Igbeta gene cause agammaglobulinemia in man. J Exp Med (2007) 0.95
Attention deficit hyperactivity disorder in children with epilepsy. Brain Dev (2009) 0.94
The effect of recurrent severe hypoglycemia on cognitive performance in children with type 1 diabetes: a meta-analysis. J Child Neurol (2011) 0.94
Peroxisome proliferator-activated receptors as mediators of phthalate-induced effects in the male and female reproductive tract: epidemiological and experimental evidence. PPAR Res (2008) 0.93
Adult-onset Alexander disease : report on a family. J Neurol (2007) 0.93
Cognitive profile, parental education and BMI in children: reflections on common neuroendrocrinobiological roots. J Pediatr Endocrinol Metab (2010) 0.93
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. Am J Med Genet A (2013) 0.93
The characteristics and activities of child and adolescent mental health services in Italy: a regional survey. BMC Psychiatry (2012) 0.92
DI-2-ethylhexyl phthalate and endocrine disruption: a review. Curr Drug Targets Immune Endocr Metabol Disord (2004) 0.92
Headache, epilepsy and photosensitivity: how are they connected? J Headache Pain (2010) 0.92
Rufinamide in children and adults with Lennox-Gastaut syndrome: first Italian multicenter experience. Seizure (2010) 0.91
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. Am J Hum Genet (2007) 0.90
Residual and persistent Adie's pupil after pediatric ophthalmoplegic migraine. Pediatr Neurol (2009) 0.90
Thyroid hormones in children with epilepsy during long-term administration of carbamazepine and valproate. Eur J Endocrinol (2008) 0.90
Placing mitochondrial DNA mutations within the progression model of type I endometrial carcinoma. Hum Mol Genet (2011) 0.90
Phthalate exposure and male infertility. Toxicology (2006) 0.90
Linkage analysis in families with recurrent neuroblastoma. Ann N Y Acad Sci (2002) 0.90
Genetics of human enteric neuropathies. Prog Neurobiol (2012) 0.89
Searching for a needle in the haystack: comparing six methods to evaluate heteroplasmy in difficult sequence context. Biotechnol Adv (2011) 0.89
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. Eur J Hum Genet (2012) 0.89
SAFA: A new measure to evaluate psychiatric symptoms detected in a sample of children and adolescents affected by eating disorders. Correlations with risk factors. Neuropsychiatr Dis Treat (2009) 0.88
Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view. Epilepsia (2007) 0.88
A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. Hum Genet (2002) 0.87
Role of folic acid depletion on homocysteine serum level in children and adolescents with epilepsy and different MTHFR C677T genotypes. Seizure (2012) 0.87
Identification of different Ikaros cDNA transcripts in Philadelphia-positive adult acute lymphoblastic leukemia by a high-throughput capillary electrophoresis sizing method. Haematologica (2008) 0.87
De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems. Eur J Med Genet (2011) 0.87
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells. Hum Mutat (2009) 0.87