Maria Muglia
Maria Muglia
Istituto per la Ricerca e Innovazione Biomedica, CNR, Mangone (CS)
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Cited by
Year
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
14852004
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
4952000
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
1802006
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
892004
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
722001
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
672004
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
632008
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
622008
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
622004
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
621983
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
612004
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
542002
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
521998
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
502015
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
502008
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
462012
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
452001
IDENTIFICATION AND QUANTIFICATION OF 1-(2-PYRIMIDINYL) PIPERAZINE, AND ACTIVE METABOLITE OF THE ANXIOLYTIC AGENT BUSPIRONE, IN RAT PLASMA AND BRAIN
S Caccia
391982
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
382016
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
372016
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