| Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia DS McCorquodale III, U Ozomaro, J Huang, G Montenegro, A Kushman, ... Clinical genetics 79 (6), 523-530, 2011 | 57 | 2011 |
| High-throughput sequencing of two populations of extracellular vesicles provides an mRNA signature that can be detected in the circulation of breast cancer patients A Conley, VR Minciacchi, DH Lee, BS Knudsen, BY Karlan, L Citrigno, ... RNA biology 14 (3), 305-316, 2017 | 53 | 2017 |
| FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis W Sproviero, V La Bella, R Mazzei, P Valentino, C Rodolico, IL Simone, ... Neurobiology of aging 33 (4), 837. e1-837. e5, 2012 | 47 | 2012 |
| CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene C Ungaro, R Mazzei, FL Conforti, T Sprovieri, P Servillo, M Liguori, ... Journal of neuroscience research 87 (5), 1162-1167, 2009 | 41 | 2009 |
| The mitochondrial dysfunction hypothesis in autism spectrum disorders: current status and future perspectives L Citrigno, M Muglia, A Qualtieri, P Spadafora, F Cavalcanti, G Pioggia, ... International journal of molecular sciences 21 (16), 5785, 2020 | 36 | 2020 |
| Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia A Magariello, M Muglia, A Patitucci, C Ungaro, R Mazzei, AL Gabriele, ... Journal of the neurological sciences 288 (1-2), 96-100, 2010 | 35 | 2010 |
| TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis FL Conforti, W Sproviero, IL Simone, R Mazzei, P Valentino, C Ungaro, ... Journal of Neurology, Neurosurgery & Psychiatry 82 (5), 587-588, 2011 | 31 | 2011 |
| A novel mutation in the X‐linked cyclin‐dependent kinase‐like 5 (CDKL5) gene associated with a severe Rett phenotype T Sprovieri, FL Conforti, A Fiumara, R Mazzei, C Ungaro, L Citrigno, ... American Journal of Medical Genetics Part A 149 (4), 722-725, 2009 | 26 | 2009 |
| Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population PS Denora, M Muglia, C Casali, J Truchetto, G Silvestri, D Messina, ... Journal of the neurological sciences 277 (1-2), 22-25, 2009 | 26 | 2009 |
| Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum A Magariello, L Citrigno, S Zuchner, M Gonzalez, A Patitucci, V Sofia, ... European journal of neurology 21 (3), e25-e26, 2014 | 18 | 2014 |
| First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL R Mazzei, D Guidetti, C Ungaro, FL Conforti, M Muglia, G Cenacchi, ... Journal of Neurology, Neurosurgery & Psychiatry 79 (1), 108-110, 2008 | 18 | 2008 |
| Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy F Luisa Conforti, T Sprovieri, R Mazzei, A Patitucci, C Ungaro, ... Amyotrophic Lateral Sclerosis 10 (1), 58-60, 2009 | 14 | 2009 |
| A novel locus for dHMN with pyramidal features maps to chromosome 4q34. 3‐q35. 2 M Muglia, A Magariello, L Citrigno, L Passamonti, T Sprovieri, FL Conforti, ... Clinical genetics 73 (5), 486-491, 2008 | 14 | 2008 |
| A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness M Muglia, L Citrigno, E D'Errico, A Magariello, E Distaso, AA Gasparro, ... Journal of the neurological sciences 343 (1-2), 218-220, 2014 | 12 | 2014 |
| Alzheimer’s Disease as A Viral Infectious Disease: Revisiting the Infectious Hypothesis F Bruno, P Abondio, R Bruno, L Ceraudo, E Pararazzo, L Citrigno, ... Ageing research reviews, 102068, 2023 | 10 | 2023 |
| Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments A Magariello, C Russo, L Citrigno, S Züchner, A Patitucci, R Mazzei, ... Journal of the neurological sciences 372, 347-349, 2017 | 10 | 2017 |
| A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1 AL Gabriele, M Ruggieri, A Patitucci, A Magariello, FL Conforti, R Mazzei, ... Child's Nervous System 27, 635-638, 2011 | 10 | 2011 |
| An ELOVL2-based epigenetic clock for forensic age prediction: a systematic review E Paparazzo, V Lagani, S Geracitano, L Citrigno, MA Aceto, A Malvaso, ... International Journal of Molecular Sciences 24 (3), 2254, 2023 | 8 | 2023 |
| Autosomal dominant lateral temporal epilepsy (ADLTE): absence of chromosomal rearrangements in LGI1 gene I Manna, L Mumoli, A Labate, L Citrigno, E Ferlazzo, U Aguglia, ... Epilepsy research 108 (3), 597-599, 2014 | 8 | 2014 |
| Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report T Sprovieri, C Ungaro, S Sivo, M Quintiliani, I Contaldo, C Veredice, ... BMC Medical Genetics 20, 1-5, 2019 | 7 | 2019 |
