Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisWU, Chi-Hong; FALLINI, Claudia; KOST, Jason E et al.Nature (London). 2012, Vol 488, Num 7412, pp 499-503, issn 0028-0836, 5 p.Article

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosisCHIO, Adriano; SCHYMICK, Jennifer C; RAPHAEL GIBBS, J et al.Human molecular genetics (Print). 2009, Vol 18, Num 8, pp 1524-1532, issn 0964-6906, 9 p.Article

Antimyoclonic effect of levetiracetam in MERRF syndromeMANCUSO, Michelangelo; GALLI, Renato; PIZZANELLI, Chiara et al.Journal of the neurological sciences. 2006, Vol 243, Num 1-2, pp 97-99, issn 0022-510X, 3 p.Article

Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosis patientsFERRI, Alberto; NENCINI, Monica; CARRI, Maria Teresa et al.Journal of neurochemistry. 2004, Vol 90, Num 5, pp 1237-1242, issn 0022-3042, 6 p.Article

Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular DystrophySCIONTI, Isabella; GRECO, Francesca; DI MUZIO, Antonio et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 628-635, issn 0002-9297, 8 p.Article

A novel mitochondrial tRNA^Ile point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemiaSOUILEM, Sihem; CHEBEL, Saber; MANCUSO, Michelangelo et al.Journal of the neurological sciences. 2011, Vol 300, Num 1-2, pp 187-190, issn 0022-510X, 4 p.Article

No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohortDEL BO, Roberto; CORTI, Stefania; BRIANI, Chiara et al.Neurobiology of aging. 2011, Vol 32, Num 6, pp 1157-1158, issn 0197-4580, 2 p.Article

Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspringCOPPEDE, Fabio; MIGHELI, Francesca; BARGAGNA, Stefania et al.Neuroscience letters. 2009, Vol 449, Num 1, pp 15-19, issn 0304-3940, 5 p.Article

Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophyCOSOTTINI, Mirco; GIANNELLI, Marco; SICILIANO, Gabriele et al.Radiology. 2005, Vol 237, Num 1, pp 258-264, issn 0033-8419, 7 p.Article

SOD1 mutations in amyotrophic lateral sclerosis : Results from a multicenter Italian studyBATTISTINI, Stefania; GIANNINI, Fabio; CAPONNETTO, Claudia et al.Journal of neurology. 2005, Vol 252, Num 7, pp 782-788, issn 0340-5354, 7 p.Article

Phenotype modulators in myophosphorylase deficiencyMARTINUZZI, Andrea; SARTORI, Elena; TOSCANO, Antonio et al.Annals of neurology. 2003, Vol 53, Num 4, pp 497-502, issn 0364-5134, 6 p.Article

Impaired oxidative metabolism in exercising muscle from ALS patientsSICILIANO, Gabriele; PASTORINI, Elena; PASQUALI, Livia et al.Journal of the neurological sciences. 2001, Vol 191, Num 1-2, pp 61-65, issn 0022-510XConference Paper

A STANDARDIZED CLINICAL EVALUATION OF PATIENTS AFFECTED BY FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY: THE FSHD CLINICAL SCORELAMPERTI, Costanza; FABBRI, Greta; GRECO, Francesca et al.Muscle & nerve. 2010, Vol 42, Num 2, pp 213-217, issn 0148-639X, 5 p.Article

Mutations of FUS gene in sporadic amyotrophic lateral sclerosisCORRADO, Lucia; DEL BO, Roberto; COLOMBRITA, Claudia et al.Journal of medical genetics. 2010, Vol 47, Num 3, pp 190-194, issn 0022-2593, 5 p.Article

Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementationMANCUSO, Michelangelo; ORSUCCI, Daniele; LOGERFO, Annalisa et al.Journal of neurology. 2010, Vol 257, Num 5, pp 774-781, issn 0340-5354, 8 p.Article

Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?GHEZZI, Serena; DEL BO, Roberto; MURRI, Luigi et al.Neurobiology of aging. 2009, Vol 30, Num 5, pp 842-844, issn 0197-4580, 3 p.Article

A Ser326Cys polymorphism in the DNA repair gene hOGG1 is not associated with sporadic Alzheimer's diseaseCOPPEDEE, Fabio; MANCUSO, Michelangelo; LO GERFO, Annalisa et al.Neuroscience letters. 2007, Vol 414, Num 3, pp 282-285, issn 0304-3940, 4 p.Article

Visual hallucinations in Parkinson's disease are not influenced by polymorphisms of serotonin 5-HY2A receptor and transporter genesKIFERLE, Lorenzo; CERAVOLO, Roberto; PETROZZI, Lucia et al.Neuroscience letters. 2007, Vol 422, Num 3, pp 228-231, issn 0304-3940, 4 p.Article

Proton MR spectroscopy of mitochondrial diseases: Analysis of brain metabolic abnormalities and their possible diagnostic relevanceBIANCHI, M. Cristina; TOSETTI, Michela; BATTINI, Roberta et al.American journal of neuroradiology. 2003, Vol 24, Num 10, pp 1958-1966, issn 0195-6108, 9 p.Article

Cytochrome c oxidase and mitochondrial F₁F₀-ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer's diseaseBOSETTI, Francesca; BRIZZI, Francesca; BAROGI, Silvia et al.Neurobiology of aging. 2002, Vol 23, Num 3, pp 371-376, issn 0197-4580Article

LMNA-associated myopathies: The Italian experience in a large cohort of patientsMAGGI, Lorenzo; D'AMICO, Adele; BRENNA, Greta et al.Neurology. 2014, Vol 83, Num 18, pp 1634-1644, issn 0028-3878, 11 p.Article

Structural and functional evaluation of cortical motor areas in Amyotrophic Lateral SclerosisCOSOTTINI, Mirco; PESARESI, Ilaria; PIAZZA, Selina et al.Experimental neurology (Print). 2012, Vol 234, Num 1, pp 169-180, issn 0014-4886, 12 p.Article

REPEATED COURSES OF GRANULOCYTE COLONY-STIMULATING FACTOR IN AMYOTROPHIC LATERAL SCLEROSIS: CLINICAL AND BIOLOGICAL RESULTS FROM A PROSPECTIVE MULTICENTER STUDYCHIO, Adriano; MORA, Gabriele; CALVO, Andrea et al.Muscle & nerve. 2011, Vol 43, Num 2, pp 189-195, issn 0148-639X, 7 p.Article

The hOGG1 Ser326Cys polymorphism and Huntington's diseaseCOPPEDE, Fabio; MIGHELI, Francesca; CERAVOLO, Roberto et al.Toxicology (Amsterdam). 2010, Vol 278, Num 2, pp 199-203, issn 0300-483X, 5 p.Article

Mitochondrial DNA haplogroups do not influence the Huntington's disease phenotypeMANCUSO, Michelangelo; KIFERLE, Lorenzo; SICILIANO, Gabriele et al.Neuroscience letters. 2008, Vol 444, Num 1, pp 83-86, issn 0304-3940, 4 p.Article