PubRank

Reuben Matalon

Author PubWeight™ 38.31‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med 2014 2.62
2 Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease. Proc Natl Acad Sci U S A 2005 1.60
3 Association of proinflammatory cytokine gene polymorphisms with susceptibility to otitis media. Pediatrics 2006 1.42
4 The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics 2003 1.37
5 Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc Natl Acad Sci U S A 2004 1.28
6 A single intravenous rAAV injection as late as P20 achieves efficacious and sustained CNS Gene therapy in Canavan mice. Mol Ther 2013 1.19
7 Association between cytokine gene polymorphisms and risk for upper respiratory tract infection and acute otitis media. Clin Infect Dis 2009 1.02
8 Acute otitis media severity: association with cytokine gene polymorphisms and other risk factors. Int J Pediatr Otorhinolaryngol 2011 0.89
9 Trends in enzyme therapy for phenylketonuria. Mol Ther 2004 0.89
10 Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. Mol Cytogenet 2012 0.87
11 Lack of aspartoacylase activity disrupts survival and differentiation of neural progenitors and oligodendrocytes in a mouse model of Canavan disease. J Neurosci Res 2009 0.87
12 Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination. Neurobiol Dis 2010 0.87
13 Neuronal localization of the mitochondrial protein NIPSNAP1 in rat nervous system. Eur J Neurosci 2010 0.86
14 Upregulation of aspartoacylase activity in the duodenum of obesity induced diabetes mouse: implications on diabetic neuropathy. Biochem Biophys Res Commun 2006 0.85
15 Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics 2003 0.85
16 Physiological role of N-acetylaspartate: contribution to myelinogenesis. Adv Exp Med Biol 2006 0.85
17 Comprehensive analysis of genetic polymorphisms in the interleukin-10 promoter: implications for immune regulation in specific ethnic populations. Genet Test 2004 0.83
18 Persistence of müllerian duct structures in a genetic male with distal monosomy 10q. Am J Med Genet A 2015 0.82
19 Mouse neural progenitor cells differentiate into oligodendrocytes in the brain of a knockout mouse model of Canavan disease. Brain Res Dev Brain Res 2004 0.82
20 DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex. Am J Med Genet 2002 0.82
21 Localisation of N-acetylaspartate in oligodendrocytes/myelin. Brain Struct Funct 2013 0.81
22 Aspartoacylase gene knockout results in severe vacuolation in the white matter and gray matter of the spinal cord in the mouse. Neurobiol Dis 2005 0.81
23 Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin. Genet Test 2007 0.81
24 Metabolic changes in the knockout mouse for Canavan's disease: implications for patients with Canavan's disease. J Child Neurol 2003 0.81
25 Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Pediatrics 2003 0.80
26 Response of phenylketonuria to tetrahydrobiopterin. J Nutr 2007 0.80
27 Expression of calpastatin, minopontin, NIPSNAP1, rabaptin-5 and neuronatin in the phenylketonuria (PKU) mouse brain: possible role on cognitive defect seen in PKU. Neurochem Int 2005 0.80
28 Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease. Mol Genet Metab 2010 0.80
29 Aspartoacylase gene knockout in the mouse: impact on reproduction. Reprod Toxicol 2005 0.80
30 Canavan disease: a monogenic trait with complex genomic interaction. Mol Genet Metab 2003 0.80
31 High level of orexin A observed in the phenylketonuria mouse brain is due to the abnormal expression of prepro-orexin. Biochem Biophys Res Commun 2004 0.80
32 Bimodal occurrence of aspartoacylase in myelin and cytosol of brain. J Neurochem 2007 0.79
33 Aspartoacylase deficiency does not affect N-acetylaspartylglutamate level or glutamate carboxypeptidase II activity in the knockout mouse brain. Brain Res 2004 0.79
34 Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome. Clin Dysmorphol 2010 0.78
35 Does ASPA gene mutation in Canavan disease alter oligodendrocyte development? A tissue culture study of ASPA KO mice brain. Adv Exp Med Biol 2006 0.77
36 High levels of orexin A in the brain of the mouse model for phenylketonuria: possible role of orexin A in hyperactivity seen in children with PKU. Neurochem Res 2003 0.77
37 Molecular basis of Canavan's disease: from human to mouse. J Child Neurol 2003 0.77
38 Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem. J Child Neurol 2003 0.76
39 A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia. Eur J Med Genet 2011 0.76
40 Expression of glutamate transporter, GABRA6, serine proteinase inhibitor 2 and low levels of glutamate and GABA in the brain of knock-out mouse for Canavan disease. Brain Res Bull 2003 0.76
41 Absence-like and tonic seizures in aspartoacylase/attractin double-mutant mice. Exp Anim 2007 0.76
42 Fragile X syndrome. Pediatrics 2009 0.75
43 First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies. Am J Med Genet A 2008 0.75
44 Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study. Pediatrics 2003 0.75
45 When should children be tested for genetic diseases? Pediatrics 2009 0.75
46 Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands. Genet Test 2002 0.75
47 Altered expression of myocilin in the brain of a mouse model for phenylketonuria (PKU). Neurosci Lett 2005 0.75