Published in Eur J Paediatr Neurol on March 21, 2008
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations. PLoS One (2013) 0.98
Calcium-independent phospholipases A2 and their roles in biological processes and diseases. J Lipid Res (2015) 0.97
Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. J Comp Neurol (2010) 0.82
Roles of acidic phospholipids and nucleotides in regulating membrane binding and activity of a calcium-independent phospholipase A2 isoform. J Biol Chem (2012) 0.81
Genetic ablation of PLA2G6 in mice leads to cerebellar atrophy characterized by Purkinje cell loss and glial cell activation. PLoS One (2011) 0.81
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. Hum Genome Var (2015) 0.78
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex. PLoS One (2016) 0.75
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy. Neural Plast (2017) 0.75
Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review. Exp Ther Med (2016) 0.75
Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. Neuroradiology (2016) 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
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet (2004) 2.75
Musical training influences linguistic abilities in 8-year-old children: more evidence for brain plasticity. Cereb Cortex (2008) 2.62
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS Genet (2012) 2.23
Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08
A Saccharomyces cerevisiae genome-wide mutant screen for altered sensitivity to K1 killer toxin. Genetics (2003) 1.76
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. Brain (2011) 1.66
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet (2012) 1.54
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol (2005) 1.54
Adverse drug reactions among children over a 10-year period. Pediatrics (2006) 1.48
Lipocalin 2 plays an immunomodulatory role and has detrimental effects after spinal cord injury. J Neurosci (2011) 1.39
Music and emotions in the brain: familiarity matters. PLoS One (2011) 1.36
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain (2007) 1.35
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology (2012) 1.35
Purpura, cutaneous necrosis, and antineutrophil cytoplasmic antibodies associated with levamisole-adulterated cocaine. Arthritis Rheum (2011) 1.27
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat (2011) 1.20
Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14. Epilepsy Res (2002) 1.14
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. Mol Genet Metab (2007) 1.11
Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration. Proc Natl Acad Sci U S A (2010) 1.09
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands. Neuromuscul Disord (2004) 1.09
Up-regulation of the extracellular matrix remodeling genes, biglycan, neutrophil gelatinase-associated lipocalin, and matrix metalloproteinase-9 in familial amyloid polyneuropathy. FASEB J (2004) 1.06
Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). Am J Ophthalmol (2005) 1.03
Impaired Coenzyme A metabolism affects histone and tubulin acetylation in Drosophila and human cell models of pantothenate kinase associated neurodegeneration. EMBO Mol Med (2011) 1.03
Efficacy and safety of nevirapine extended-release once daily versus nevirapine immediate-release twice-daily in treatment-naive HIV-1-infected patients. Antivir Ther (2011) 1.03
Glutathione S-transferase omega genes in Alzheimer and Parkinson disease risk, age-at-diagnosis and brain gene expression: an association study with mechanistic implications. Mol Neurodegener (2012) 1.02
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency. Neurogenetics (2013) 1.00
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. Hum Mutat (2010) 0.99
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model. Hum Mol Genet (2012) 0.97
Mesenchymal stem cell therapy for treatment of cardiovascular disease: helping people sooner or later. Stem Cells Dev (2010) 0.96
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. JAMA Neurol (2013) 0.95
Association of common KIBRA variants with episodic memory and AD risk. Neurobiol Aging (2010) 0.94
Outcome of three cases of untreated maternal glutaric aciduria type I. Eur J Pediatr (2007) 0.94
Does this woman have adnexal torsion? Hum Reprod (2012) 0.92
Health care utilization, cost burden and coping strategies by disability status: an analysis of the Viet Nam National Health Survey. Int J Health Plann Manage (2010) 0.91
Late-onset Alzheimer disease genetic variants in posterior cortical atrophy and posterior AD. Neurology (2014) 0.90
Is a standardized questionnaire useful for tubal rupture screening in patients with ectopic pregnancy? Acad Emerg Med (2012) 0.89
Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition? J Child Neurol (2012) 0.88
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. J Inherit Metab Dis (2011) 0.87
Enhanced expression and HIV-1 inhibition of chimeric tRNA(Lys3)-ribozymes under dual U6 snRNA and tRNA promoters. Mol Ther (2002) 0.87
Deposition and passage of transthyretin through the blood-nerve barrier in recipients of familial amyloid polyneuropathy livers. Lab Invest (2004) 0.87
Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. Mov Disord (2008) 0.86
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database. Eur J Hum Genet (2012) 0.85
Effects of galectin-3 expression on growth and tumorigenicity of the prostate cancer cell line LNCaP. Prostate (2002) 0.84
Lack of detectable DNA uptake by bacterial gut isolates grown in vitro and by Acinetobacter baylyi colonizing rodents in vivo. Environ Biosafety Res (2007) 0.84
Identification, characterization and clinical implications of two markers detected at prenatal diagnosis. Prenat Diagn (2006) 0.83
Adaptive visual memory reorganization in right medial temporal lobe epilepsy. Epilepsia (2008) 0.83
Genome-wide association data classification and SNPs selection using two-stage quality-based Random Forests. BMC Genomics (2015) 0.82
Structural organization and chromosomal location of the chicken alpha-amylase gene family. Gene (2005) 0.82
Steady-state pharmacokinetics of nevirapine extended-release tablets in HIV-1-infected children and adolescents: an open-label, multiple-dose, cross-over study. Pediatr Infect Dis J (2014) 0.82
Measurement of brain iron distribution in Hallevorden-Spatz syndrome. J Magn Reson Imaging (2010) 0.82
Type of featural attention differentially modulates hMT+ responses to illusory motion aftereffects. J Neurophysiol (2009) 0.82
Ureteral endometriosis: the role of magnetic resonance imaging. J Am Assoc Gynecol Laparosc (2004) 0.82
Inhibition of group IVA cytosolic phospholipase A2 by thiazolyl ketones in vitro, ex vivo, and in vivo. J Med Chem (2014) 0.81
BPAN: the only X-linked dominant NBIA disorder. Int Rev Neurobiol (2013) 0.81
Alterations of red cell membrane properties in neuroacanthocytosis. PLoS One (2013) 0.81
Unusual synechia at hysterosalpingography: intrauterine fallopian tube after surgical abortion. Fertil Steril (2011) 0.80
The ω3-polyunsaturated fatty acid derivatives AVX001 and AVX002 directly inhibit cytosolic phospholipase A(2) and suppress PGE(2) formation in mesangial cells. Br J Pharmacol (2012) 0.80
Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. Mov Disord (2013) 0.80
Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression. Hum Genet (2013) 0.80
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. Brain Dev (2010) 0.80
Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy. Biochem Biophys Res Commun (2007) 0.79
LRRTM3 interacts with APP and BACE1 and has variants associating with late-onset Alzheimer's disease (LOAD). PLoS One (2013) 0.79
Lipoprotein effects of combined ezetimibe and colesevelam hydrochloride versus ezetimibe alone in hypercholesterolemic subjects: a pilot study. Metabolism (2006) 0.79
Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy. Brain Res Bull (2010) 0.79
Evaluation of the permeability of agricultural films to various fumigants. Environ Sci Technol (2011) 0.79
Pantothenate kinase 2 mutation without 'eye-of-the-tiger' sign. Pediatr Radiol (2006) 0.78
Inherited and acquired risk factors and their combined effects in pediatric stroke. Pediatr Neurol (2003) 0.78
Impact of empiric antibiotic use on development of infections caused by extended-spectrum beta-lactamase bacteria in a neonatal intensive care unit. Pediatr Infect Dis J (2008) 0.78
Galactosialidosis presenting as nonimmune fetal hydrops: a case report. Prenat Diagn (2009) 0.78
[Cerebellar hypoplasias]. Acta Med Port (2010) 0.78
Flavone-based analogues inspired by the natural product simocyclinone D8 as DNA gyrase inhibitors. Bioorg Med Chem Lett (2013) 0.77
The ear in fetal MRI: what can we really see? Neuroradiology (2011) 0.77
Wild type N-ras displays anti-malignant properties, in part by downregulating decorin. J Cell Physiol (2012) 0.77
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders. Orphanet J Rare Dis (2014) 0.77
Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51. J Hum Genet (2010) 0.77
Long-term follow-up of lymphocyte populations and cellular cytokine production in patients with chronic graft-versus-host disease treated with extracorporeal photopheresis. Haematologica (2005) 0.77
Imaging striatal dopaminergic function in phospholipase A2 group VI-related parkinsonism. Mov Disord (2012) 0.77
Measurements of the normal fetal brain at gestation weeks 17 to 23: a MRI study. Neuroradiology (2010) 0.77
Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration. Mol Genet Metab (2013) 0.76
Pharmacokinetics of BILR 355 after multiple oral doses coadministered with a low dose of ritonavir. Antimicrob Agents Chemother (2008) 0.76
Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neurosci Lett (2012) 0.76
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. J Hum Genet (2008) 0.76
Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. J Neurol (2003) 0.76
Is there really an acute alcohol-related axonal polyneuropathy? J Neuropsychiatry Clin Neurosci (2011) 0.75
The SLIM Study: Slo-Niacin® and Atorvastatin Treatment of Lipoproteins and Inflammatory Markers in Combined Hyperlipidemia. J Clin Lipidol (2009) 0.75
Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: a pathogenic link with pantothenate kinase-associated neurodegeneration? Neurol India (2013) 0.75
[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier]. Med Clin (Barc) (2006) 0.75
Religious Faith and Diabetes Health Beliefs in a Homeless Population: A Qualitative Study. J Christ Nurs (1) 0.75
[Merosin-positive congenital muscular dystrophy, white matter abnormalities, and bilateral posterior occipital cortical dysplasia]. Acta Med Port (2003) 0.75
[Analysis of the intra-hospital attending of ventricular fibrilation/ventricular taquicardia simulated events]. Arq Bras Cardiol (2005) 0.75