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Remission in dihydroxyphenylalanine-responsive dystoniaDI CAPUA, M; BERTINI, E.Movement disorders. 1995, Vol 10, Num 2, issn 0885-3185, p. 223Article

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LA VELOCITA DI CONDUZIONE MOTORIA E SENSITIVA IN ETA PEDIATRICA = LA VITESSE DE CONDUCTION MOTRICE ET SENSITIVE CHEZ DES NOURRISSONS ET DES ENFANTSBENEDETTI P; SIDERI G; BERTINI E et al.1978; NEUROPSICHIATR. INFANT.; ITA; DA. 1978; NO 207; PP. 1059-1070; ABS. ENG; BIBL. 15 REF.Article

EFFECT OF PROTEIN GLUTATHIONYLATION ON NEURONAL CYTOSKELETON: A POTENTIAL LINK TO NEURODEGENERATIONCARLETTI, B; PASSARELLI, C; SPARACO, M et al.Neuroscience. 2011, Vol 192, pp 285-294, issn 0306-4522, 10 p.Article

Neurodegeneration associated with genetic defects in phospholipase A₂GREGORY, A; WESTAWAY, S. K; RODRIGUEZ, D et al.Neurology. 2008, Vol 71, Num 18, pp 1402-1409, issn 0028-3878, 8 p.Article

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersBRANCATI, F; TRAVAGLINI, L; RIGOLI, L et al.Clinical genetics. 2008, Vol 74, Num 2, pp 164-170, issn 0009-9163, 7 p.Article

Detection of common and private mutations in the COL6A1 gene of patients with bethlem myopathyLUCIOLI, S; GIUSTI, B; BÖNNEMANN, C et al.Neurology. 2005, Vol 64, Num 11, pp 1931-1937, issn 0028-3878, 7 p.Article

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasiaZANNI, G; SAILLOUR, Y; RODRIGUEZ, D et al.Neurology. 2005, Vol 65, Num 9, pp 1364-1369, issn 0028-3878, 6 p.Article

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancyNABBOUT, R; GENNARO, E; FONTANA, E et al.Neurology. 2003, Vol 60, Num 12, pp 1961-1967, issn 0028-3878, 7 p.Article

Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopeniaRACIOPPI, L; CANCRINI, C; STEFANINI, M et al.Clinical and experimental immunology (Print). 2001, Vol 126, Num 3, pp 511-518, issn 0009-9104Article

Abnormalities of somatosensory and motor evoked potentials in adrenomyeloneuropathy : Comparison with magnetic resonance imaging and clinical findingsRESTUCCIA, D; DI LAZZARO, V; VALERIANI, M et al.Muscle & nerve. 1997, Vol 20, Num 10, pp 1249-1257, issn 0148-639XArticle

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiencyBERTINI, E; DIONISI-VICI, C; GARAVAGLIA, B et al.European journal of pediatrics. 1992, Vol 151, Num 2, pp 121-126, issn 0340-6199Article

Giant axonal neuropathy : report on a case with focal fiber lossSABATELLI, M; BERTINI, E; SERVIDEI, S et al.Acta neuropathologica. 1992, Vol 83, Num 5, pp 543-546, issn 0001-6322Article

Involvement of respiratory muscles in cytoplasmic body myopathy : a pathological studyBERTINI, E; RICCI, E; BOLDRINI, R et al.Brain & development (Tokyo. 1979). 1990, Vol 12, Num 6, pp 798-806, issn 0387-7604, 9 p.Article

Late onset scleroatonic familial myopathy (Ullrich disease): a study of two sibsRICCI, E; BERTINI, E; BOLDRINI, R et al.American journal of medical genetics. 1988, Vol 31, Num 6, pp 933-942, issn 0148-7299Article

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMRTERRACCIANO, A; SPECCHIO, N; DARRA, F et al.Neurogenetics (Oxford. Print). 2012, Vol 13, Num 4, pp 341-345, issn 1364-6745, 5 p.Article

Functional changes in Duchenne muscular dystrophy: A 12-month longitudinal cohort studyMAZZONE, E; VASCO, G; FROSINI, S et al.Neurology. 2011, Vol 77, Num 3, pp 250-256, issn 0028-3878, 7 p.Article

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathyBENEDETTI, S; BERTINI, E; QUATTRINI, A et al.Journal of neurology, neurosurgery and psychiatry. 2005, Vol 76, Num 7, pp 1019-1021, issn 0022-3050, 3 p.Article

The effect of genotype on the natural history of eIF2B-related leukodystrophiesFOGLI, A; SCHIFFMANN, R; SURTEES, R et al.Neurology. 2004, Vol 62, Num 9, pp 1509-1517, issn 0028-3878, 9 p.Article

Infantile ascending hereditary spastic paralysis (IAHSP): Clinical features in 11 familiesLESCA, G; EYMARD-PIERRE, E; BOESPFLUG-TANGUY, O et al.Neurology. 2003, Vol 60, Num 4, pp 674-682, issn 0028-3878, 9 p.Article

Mutations in the MTM1 gene implicated in X-linked myotubular myopathyLAPORTE, J; GUIRAUD-CHAUMEIL, C; FARDEAU, M et al.Human molecular genetics (Print). 1997, Vol 6, Num 9, pp 1505-1511, issn 0964-6906Article

New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiencyDIONISI-VICI, C; RUITENBEEK, W; FARIELLO, G et al.Annals of neurology. 1997, Vol 42, Num 4, pp 661-665, issn 0364-5134Article

Respiratory-chain and pyruvate metabolism defects : Italian collaborative survey on 72 patientsCARUSO, U; ADAMI, A; SAVASTA, S et al.Journal of inherited metabolic disease. 1996, Vol 19, Num 2, pp 143-148, issn 0141-8955Article

Reducing body myopathy and desmin storage in skeletal muscle : morphological and biochemical findingsBERTINI, E; SALVIATI, G; APOLLO, F et al.Acta neuropathologica. 1994, Vol 87, Num 1, pp 106-112, issn 0001-6322Article