The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene RE Tanzi, K Petrukhin, I Chernov, JL Pellequer, W Wasco, B Ross, ... Nature genetics 5 (4), 344-350, 1993 | 1697 | 1993 |
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene K Petrukhin, SG Fischer, M Pirastu, RE Tanzi, I Chernov, M Devoto, ... Nature genetics 5 (4), 338-343, 1993 | 617 | 1993 |
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses AB Shah, I Chernov, HT Zhang, BM Ross, K Das, S Lutsenko, E Parano, ... The American Journal of Human Genetics 61 (2), 317-328, 1997 | 461 | 1997 |
A genomewide screen for autism susceptibility loci J Liu, DR Nyholt, P Magnussen, E Parano, P Pavone, D Geschwind, ... The American Journal of Human Genetics 69 (2), 327-340, 2001 | 413 | 2001 |
Neuropsychological assessment in children with absence epilepsy P Pavone, R Bianchini, RR Trifiletti, G Incorpora, A Pavone, E Parano Neurology 56 (8), 1047-1051, 2001 | 227 | 2001 |
TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa P Banerjee, PW Kleyn, JA Knowles, CA Lewis, BM Ross, E Parano, ... Nature genetics 18 (2), 177-179, 1998 | 179 | 1998 |
Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease K Taniguchi, K Kobayashi, K Saito, H Yamanouchi, A Ohnuma, ... Human molecular genetics 12 (5), 527-534, 2003 | 171 | 2003 |
Anti-brain antibodies in PANDAS versus uncomplicated streptococcal infection P Pavone, R Bianchini, E Parano, G Incorpora, R Rizzo, L Mazzone, ... Pediatric neurology 30 (2), 107-110, 2004 | 167 | 2004 |
Electrophysiologic correlates of peripheral nervous system maturation in infancy and childhood E Parano, A Uncini, DC De Vivo, RE Lovelace Journal of child neurology 8 (4), 336-338, 1993 | 116 | 1993 |
Congenital muscular dystrophy: from muscle to brain R Falsaperla, AD Praticò, M Ruggieri, E Parano, R Rizzo, G Corsello, ... Italian journal of pediatrics 42, 1-11, 2016 | 110 | 2016 |
Hydranencephaly: cerebral spinal fluid instead of cerebral mantles P Pavone, AD Praticò, G Vitaliti, M Ruggieri, R Rizzo, E Parano, L Pavone, ... Italian journal of pediatrics 40, 1-8, 2014 | 107 | 2014 |
Acute disseminated encephalomyelitis: a long-term prospective study and meta-analysis P Pavone, M Pettoello-Mantovano, A Le Pira, I Giardino, A Pulvirenti, ... Neuropediatrics 41 (06), 246-255, 2010 | 105 | 2010 |
A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions TA Carter, CG Bönnemann, CH Wang, S Obici, E Parano, ... Human molecular genetics 6 (2), 229-236, 1997 | 105 | 1997 |
Epilepsy is not a prominent feature of primary autism P Pavone, G Incorpora, A Fiumara, E Parano, RR Trifiletti, M Ruggieri Neuropediatrics 35 (04), 207-210, 2004 | 100 | 2004 |
Low prevalence of neurologic and psychiatric manifestations in children with gluten sensitivity M Ruggieri, G Incorpora, A Polizzi, E Parano, M Spina, P Pavone The Journal of pediatrics 152 (2), 244-249. e1, 2008 | 98 | 2008 |
Topical review: autoimmune neuropsychiatric disorders associated with streptococcal infection: Sydenham chorea, PANDAS, and PANDAS variants P Pavone, E Parano, R Rizzo, RR Trifiletti Journal of Child Neurology 21 (9), 727-736, 2006 | 98 | 2006 |
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment P Pavone, AD Praticò, R Rizzo, G Corsello, M Ruggieri, E Parano, ... Medicine 96 (26), e6814, 2017 | 82 | 2017 |
Limb reduction defects in humans associated with prenatal isotretinoin exposure R Rizzo, EJ Lammer, E Parano, L Pavone, JC Argyle Teratology 44 (6), 599-604, 1991 | 80 | 1991 |
Noninvasive prenatal diagnosis of chromosomal aneuploidies by isolation and analysis of fetal cells from maternal blood E Parano, E Falcidia, A Grillo, P Pavone, N Cutuli, H Takabayashi, ... American journal of medical genetics 101 (3), 262-267, 2001 | 62 | 2001 |
Aicardi syndrome with multiple tumors: a case report with literature review RR Trifiletti, G Incorpora, A Polizzi, MD Cocuzza, EA Bolan, E Parano Brain and Development 17 (4), 283-285, 1995 | 62 | 1995 |