Published in Mov Disord on June 15, 2010
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Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
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Genome-wide association analysis identifies susceptibility loci for migraine without aura. Nat Genet (2012) 1.64
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet (2011) 1.57
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency. Mov Disord (2013) 1.53
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Three novel mutations in greek sotos patients with rare clinical manifestations. Horm Res (2008) 1.37
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Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia. Cerebellum (2011) 1.21
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A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency. Mol Genet Metab (2007) 1.16
Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes. Clin Chem (2003) 1.15
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol (2006) 1.12
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Hyperlactatemia in human immunodeficiency virus-uninfected infants who are exposed to antiretrovirals. Pediatrics (2004) 1.10
Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up. Mov Disord (2010) 1.08
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High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs. J Pediatr Gastroenterol Nutr (2008) 1.08
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. Eur J Hum Genet (2009) 1.07
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Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). Am J Med Genet A (2004) 1.07
School performance in early and continuously treated phenylketonuria. Pediatr Neurol (2005) 1.05
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. Clin Biochem (2007) 1.05
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies. BMC Genomics (2014) 1.04
Assessment of oxidative stress in patients with sickle cell disease: The glutathione system and the oxidant-antioxidant status. Blood Cells Mol Dis (2011) 1.04
HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins. J Neurosci Methods (2005) 1.03
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. Biochem Biophys Res Commun (2008) 1.03
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat (2014) 1.01
Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics (2013) 1.00
Analysis of X chromosome inactivation in autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet (2008) 0.98
Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome. J Allergy Clin Immunol (2010) 0.98
The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms. Hum Mol Genet (2007) 0.98
SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population. Am J Med Genet B Neuropsychiatr Genet (2011) 0.98
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. Mov Disord (2012) 0.97
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. Mitochondrion (2010) 0.97
Genistein supplementation in patients affected by Sanfilippo disease. J Inherit Metab Dis (2011) 0.96
Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child attention-deficit/hyperactivity disorder. Biol Psychiatry (2008) 0.96
Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains. Brain Struct Funct (2012) 0.95
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. J Inherit Metab Dis (2011) 0.95
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Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene. J Neurol Sci (2009) 0.93
Alternative splicing in the dyslexia-associated gene KIAA0319. Mamm Genome (2007) 0.93
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene. J Inherit Metab Dis (2010) 0.91
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. Dev Med Child Neurol (2005) 0.91
Association of TGF-beta1 polymorphisms with chronic renal disease. J Nephrol (2004) 0.91
Implication of chromosome 18 in hypertension by sibling pair and association analyses: putative involvement of the RKHD2 gene. Hypertension (2006) 0.90
Asthma and pulmonary function abnormalities in heterozygotes for cystic fibrosis transmembrane regulator gene mutations. Int J Clin Exp Med (2008) 0.90
Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up. Eur J Paediatr Neurol (2008) 0.90
Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder. Biol Psychiatry (2009) 0.90
Early non-invasive detection of fetal Y chromosome sequences in maternal plasma using multiplex PCR. Eur J Obstet Gynecol Reprod Biol (2012) 0.90
Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Mol Genet Metab (2008) 0.90
Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population. Genet Test Mol Biomarkers (2009) 0.90
CFTR localization in native airway cells and cell lines expressing wild-type or F508del-CFTR by a panel of different antibodies. J Histochem Cytochem (2004) 0.90
Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects. Drug Discov Today (2012) 0.89
A rare thalassemic syndrome caused by interaction of Hb Adana [alpha59(E8)Gly-->Asp] with an alpha+-thalassemia deletion: clinical aspects in two cases. Hemoglobin (2008) 0.89
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. Hum Mutat (2009) 0.89
Plasmatic B-type natriuretic peptide and C-reactive protein in hyperacute stroke as markers of CT-evidence of brain edema. Int J Med Sci (2008) 0.89
Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene. Acta Paediatr (2011) 0.89
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Mol Genet Metab (2007) 0.89