Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A S Züchner, IV Mersiyanova, M Muglia, N Bissar-Tadmouri, J Rochelle, ... Nature genetics 36 (5), 449-451, 2004 | 1855 | 2004 |
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 A Bolino, M Muglia, FL Conforti, E LeGuern, MAP Salih Nature genetics 25, 17, 2000 | 559 | 2000 |
Monoamine oxidase-a genetic variations influence brain activity associated with inhibitory control: new insight into the neural correlates of impulsivity L Passamonti, F Fera, A Magariello, A Cerasa, MC Gioia, M Muglia, ... Biological psychiatry 59 (4), 334-340, 2006 | 201 | 2006 |
Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies M Ruggieri, AD Praticò, A Serra, L Maiolino, S Cocuzza, P Di Mauro, ... Acta Otorhinolaryngologica Italica 36 (5), 345, 2016 | 99 | 2016 |
The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features M Ruggieri, A Polizzi, A Spalice, V Salpietro, R Caltabiano, V D'Orazi, ... Clinical Genetics 87 (5), 401-410, 2015 | 96 | 2015 |
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling E Gregianin, G Pallafacchina, S Zanin, V Crippa, P Rusmini, A Poletti, ... Human molecular genetics 25 (17), 3741-3753, 2016 | 94 | 2016 |
Juvenile Huntington’s disease presenting as progressive myoclonic epilepsy A Gambardella, M Muglia, A Labate, A Magariello, AL Gabriele, R Mazzei, ... Neurology 57 (4), 708-711, 2001 | 94 | 2001 |
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum C Casali, EM Valente, E Bertini, G Montagna, C Criscuolo, G De Michele, ... Neurology 62 (2), 262-268, 2004 | 91 | 2004 |
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis FL Conforti, R Spataro, W Sproviero, R Mazzei, F Cavalcanti, F Condino, ... Neurology 79 (24), 2315-2320, 2012 | 83 | 2012 |
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? M Mancuso, FL Conforti, A Rocchi, A Tessitore, M Muglia, G Tedeschi, ... Neuroscience Letters 371 (2-3), 158-162, 2004 | 78 | 2004 |
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy FL Conforti, T Sprovieri, R Mazzei, C Ungaro, V La Bella, A Tessitore, ... Neuromuscular Disorders 18 (1), 68-70, 2008 | 71 | 2008 |
The gender effect in juvenile Huntington disease patients of Italian origin M Cannella, C Gellera, V Maglione, P Giallonardo, G Cislaghi, M Muglia, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 125 …, 2004 | 71 | 2004 |
Disposition and metabolism of buspirone and its metabolite 1-(2-pyrimidinyl)-piperazine in the rat S Caccia, M Muglia, A Mancinelli, S Garattini Xenobiotica 13 (3), 147-153, 1983 | 67 | 1983 |
Genetically dependent modulation of serotonergic inactivation in the human prefrontal cortex L Passamonti, A Cerasa, MC Gioia, A Magariello, M Muglia, A Quattrone, ... Neuroimage 40 (3), 1264-1273, 2008 | 66 | 2008 |
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL R Mazzei, FL Conforti, PL Lanza, T Sprovieri, MR Lupo, O Gallo, ... Neurology 63 (3), 561-564, 2004 | 66 | 2004 |
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia M Muglia, A Magariello, G Nicoletti, A Patitucci, AL Gabriele, FL Conforti, ... Annals of Neurology: Official Journal of the American Neurological …, 2002 | 58 | 2002 |
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2 … R Caltabiano, G Magro, A Polizzi, AD Praticò, A Ortensi, V D’Orazi, ... Child's Nervous System 33, 933-940, 2017 | 55 | 2017 |
Ventro-lateral prefrontal activity during working memory is modulated by MAO A genetic variation A Cerasa, MC Gioia, F Fera, L Passamonti, M Liguori, P Lanza, M Muglia, ... Brain Research 1201, 114-121, 2008 | 55 | 2008 |
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B) A Gambardella, A Bolino, M Muglia, P Valentino, F Bono, RL Oliveri, ... Neurology 50 (3), 799-801, 1998 | 53 | 1998 |
Clinical and genetic study of a large Charcot–Marie–Tooth type 2A family from southern Italy M Muglia, M Zappia, V Timmerman, P Valentino, AL Gabriele, FL Conforti, ... Neurology 56 (1), 100-103, 2001 | 50 | 2001 |