Maria Giovanna Marrosu

Summary

Affiliation: University of Cagliari
Country: Italy

Publications

  1. ncbi request reprint Genetic factors and the founder effect explain familial MS in Sardinia
    M G Marrosu
    Multiple Sclerosis Center, Department of Neuroscience, Ospedale Binaghi, Cagliari, Italy
    Neurology 58:283-8. 2002
  2. ncbi request reprint Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation
    M G Marrosu
    The Centro Sclerosi Multipla, Dipartimento di Scienze Cardiovascolari e Neurologiche, University of Cagliari, Italy
    Neurology 66:108-11. 2006
  3. pmc Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia
    Maristella Pitzalis
    Dipartimento di Scienze Biomediche, University of Sassari, 07100 Sassari, Italy
    BMC Med Genet 9:3. 2008
  4. pmc Variation of the myelin oligodendrocyte glycoprotein gene is not primarily associated with multiple sclerosis in the Sardinian population
    Maria Giovanna Marrosu
    Centro Sclerosi Multipla, Dipartimento di Scienze Neurologiche e Cardiovascolari, University of Cagliari, Italy
    BMC Genet 8:25. 2007
  5. ncbi request reprint Interaction of loci within the HLA region influences multiple sclerosis course in the Sardinian population
    M G Marrosu
    Centro Sclerosi Multipla, Ospedale Binaghi, Cagliari, Italy
    J Neurol 253:208-13. 2006
  6. ncbi request reprint Bias in parental transmission of the HLA-DR3 allele in Sardinian multiple sclerosis
    M G Marrosu
    Multiple Sclerosis Center, University of Cagliari, Italy
    Neurology 63:1084-6. 2004
  7. ncbi request reprint Dissection of the HLA association with multiple sclerosis in the founder isolated population of Sardinia
    M G Marrosu
    Dipartimento di Neuroscienze, University of Cagliari, Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis 2, Cagliari 09126, Italy
    Hum Mol Genet 10:2907-16. 2001
  8. doi request reprint The cohort of the multiple sclerosis center of Cagliari
    M G Marrosu
    Centro Sclerosi Multipla, Dipartimento di Scienze Cardiovascolari e Neurologiche, Universita di Cagliari, Cagliari, Italy
    Neurol Sci 31:309-12. 2011
  9. ncbi request reprint Patients with multiple sclerosis and risk of type 1 diabetes mellitus in Sardinia, Italy: a cohort study
    Maria Giovanna Marrosu
    Dipartimento di Neuroscienze, Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis 2, 09126 Cagliari, Italy
    Lancet 359:1461-5. 2002
  10. ncbi request reprint ICAM-1 gene is not associated with multiple sclerosis in sardinian patients
    M G Marrosu
    Department of Neuroscience, University of Cagliari, Ospedale Binaghi, Italy
    J Neurol 247:677-80. 2000

Detail Information

Publications63

  1. ncbi request reprint Genetic factors and the founder effect explain familial MS in Sardinia
    M G Marrosu
    Multiple Sclerosis Center, Department of Neuroscience, Ospedale Binaghi, Cagliari, Italy
    Neurology 58:283-8. 2002
    ....
  2. ncbi request reprint Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation
    M G Marrosu
    The Centro Sclerosi Multipla, Dipartimento di Scienze Cardiovascolari e Neurologiche, University of Cagliari, Italy
    Neurology 66:108-11. 2006
    ..The distinctive clinical and MRI findings in the family studied extend the phenotypic spectrum of dementia associated with mutation of the PS1 gene...
  3. pmc Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia
    Maristella Pitzalis
    Dipartimento di Scienze Biomediche, University of Sassari, 07100 Sassari, Italy
    BMC Med Genet 9:3. 2008
    ..These observations suggest that some unknown autoimmunity variant with relevant effect size could be fairly common in this founder population and could be detected using linkage analysis...
  4. pmc Variation of the myelin oligodendrocyte glycoprotein gene is not primarily associated with multiple sclerosis in the Sardinian population
    Maria Giovanna Marrosu
    Centro Sclerosi Multipla, Dipartimento di Scienze Neurologiche e Cardiovascolari, University of Cagliari, Italy
    BMC Genet 8:25. 2007
    ..Here we have assessed the association of MOG variation with MS in the Sardinian population to see if it represents an independent contributor to MS predisposition...
  5. ncbi request reprint Interaction of loci within the HLA region influences multiple sclerosis course in the Sardinian population
    M G Marrosu
    Centro Sclerosi Multipla, Ospedale Binaghi, Cagliari, Italy
    J Neurol 253:208-13. 2006
    ..These findings suggest that a locus telomeric to HLA class I exerts an effect on alleles at the DPB1 locus in modulating disease course...
  6. ncbi request reprint Bias in parental transmission of the HLA-DR3 allele in Sardinian multiple sclerosis
    M G Marrosu
    Multiple Sclerosis Center, University of Cagliari, Italy
    Neurology 63:1084-6. 2004
    ..Parental transmission of DR3 and DR4, assessed in a set of 565 case-parent triads, showed evidence of paternal inheritance of DR3 in affected women, thus explaining the excess of females in the DR3 category...
  7. ncbi request reprint Dissection of the HLA association with multiple sclerosis in the founder isolated population of Sardinia
    M G Marrosu
    Dipartimento di Neuroscienze, University of Cagliari, Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis 2, Cagliari 09126, Italy
    Hum Mol Genet 10:2907-16. 2001
    ..Overall these results are consistent with a multilocus model of the MHC encoded susceptibility to MS...
  8. doi request reprint The cohort of the multiple sclerosis center of Cagliari
    M G Marrosu
    Centro Sclerosi Multipla, Dipartimento di Scienze Cardiovascolari e Neurologiche, Universita di Cagliari, Cagliari, Italy
    Neurol Sci 31:309-12. 2011
    ..We found a reduction in relapses and EDSS, moreover the clinical improvement was also confirmed by radiological examinations. Our results show that the best therapeutic results are achieved by early initiation of treatment...
  9. ncbi request reprint Patients with multiple sclerosis and risk of type 1 diabetes mellitus in Sardinia, Italy: a cohort study
    Maria Giovanna Marrosu
    Dipartimento di Neuroscienze, Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis 2, 09126 Cagliari, Italy
    Lancet 359:1461-5. 2002
    ..We attempted to assess the prevalence in this region of type 1 diabetes mellitus in individuals with multiple sclerosis, and to ascertain disease risk factors...
  10. ncbi request reprint ICAM-1 gene is not associated with multiple sclerosis in sardinian patients
    M G Marrosu
    Department of Neuroscience, University of Cagliari, Ospedale Binaghi, Italy
    J Neurol 247:677-80. 2000
    ..Our data suggest that the increased expression of the ICAM-1 molecule observed in both blood and periplaque microvessels may be considered a consequence of the inflammatory process rather than the result of a genetic variation...
  11. doi request reprint ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations
    Adriano Chio
    Department of Neuroscience, University of Torino, Torino, Italy
    J Neurol Neurosurg Psychiatry 83:730-3. 2012
    ..In the isolated population of Sardinia, a Mediterranean island, ∼25% of ALS cases carry either a p.A382T mutation of the TARDBP gene or a GGGGCC hexanucleotide repeat expansion in the first intron of the C9ORF72 gene...
  12. pmc Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene
    Adriano Chio
    Department of Neuroscience, University of Torino, Via Cherasco 15, Turin, Italy
    Arch Neurol 68:594-8. 2011
    ..To perform an extensive screening for mutations of amyotrophic lateral sclerosis (ALS)-related genes in a consecutive cohort of Sardinian patients, a genetic isolate phylogenically distinct from other European populations...
  13. doi request reprint Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation
    Nicola Carboni
    Neuromuscular Unit, Dipartimento di Scienze Cardiovascolari e Neurologiche, University of Cagliari, Cagliari, Italy
    Neuromuscul Disord 18:291-8. 2008
    ....
  14. doi request reprint Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations
    Nicola Carboni
    Neuromuscular Unit, Department of Cardiovascular Science and Neurology, University of Cagliari, Sardinia, Italy
    Muscle Nerve 41:458-63. 2010
    ..This finding suggests the presence of a continuum of skeletal muscle involvement among phenotypes of LMNA-gene-mutation-related skeletalmyopathy and cardiomyopathy...
  15. pmc The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms
    Antonino Cannas
    Centro per i Disordini del Movimento, Dipartimento di Scienze Cardiovascolari e Neurologiche, Sezione Neurologia, Policlinico Universitario, Universita di Cagliari, SS 554 Bivio Sestu, 09042 Monserrato, Cagliari, Italy
    Neurogenetics 14:161-6. 2013
    ..These forms can present PSP or CBD-like clinical signs, with bulbar and/or extrabulbar pyramidal signs and cognitive impairment. No evidence of association has been found between TARDBP gene mutation and typical PD...
  16. pmc Vitamin D responsive elements within the HLA-DRB1 promoter region in Sardinian multiple sclerosis associated alleles
    Eleonora Cocco
    Centro Sclerosi Multipla, Dipartimento di Sanita Pubblica, Medicina clinica e molecolare, University of Cagliari, Cagliari, Italy
    PLoS ONE 7:e41678. 2012
    ..These data seem to exclude a role of VDREs in the promoter region of the DRB1 gene in susceptibility to MS carried by DRB1* alleles in Sardinian patients...
  17. ncbi request reprint The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone
    Maria Giovanna Marrosu
    Centro Sclerosi Multipla, Dipartimento di Neuroscienze, University of Cagliari, Italy
    Hum Mol Genet 13:2919-24. 2004
    ..The data suggest that variation at other non-HLA class II loci, and/or unknown environmental factors contribute significantly to the co-occurrence of these two traits...
  18. ncbi request reprint PTPRC (CD45) C77G mutation does not contribute to multiple sclerosis susceptibility in Sardinian patients
    Eleonora Cocco
    Dipartimento di Neuroscienze, Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis, 2, 09126, Cagliari, Italy
    J Neurol 251:1085-8. 2004
    ..09) in the DR-patients. We concluded that, despite the presence of CD45 G77 polymorphism in a few patients who did not carry the HLADR- DQ MS-predisposing molecules, CD45 did not contribute to development of the disease in Sardinian MS...
  19. pmc Interaction between HLA-DRB1-DQB1 haplotypes in Sardinian multiple sclerosis population
    Eleonora Cocco
    Multiple Sclerosis Center, Department of Public Health and Clinical and Molecular Medicine, University of Cagliari, Cagliari, Italy
    PLoS ONE 8:e59790. 2013
    ..All together, these data suggest that propensity to MS observed in Sardinian population carried by the various HLA-DRB1-DQB1 molecules can be due to functional peculiarity in the antigen presentation mechanisms...
  20. pmc Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
    Adriano Chio
    Department of Neuroscience, University of Turin and Azienda Ospedale Università San Giovanni Battista of Turin, I 10126 Turin, Italy
    Brain 135:784-93. 2012
    ..Their pedigrees typically display a high frequency of cases with pure frontotemporal dementia, widening the concept of familial amyotrophic lateral sclerosis...
  21. ncbi request reprint Lack of evidence for a role of the myelin basic protein gene in multiple sclerosis susceptibility in Sardinian patients
    Eleonora Cocco
    Department of Neuroscience, University of Cagliari, Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis, 2, 09126 Cagliari, Italy
    J Neurol 249:1552-5. 2002
    ..We concluded that the MBP gene does not play a role in MS susceptibility in Sardinians...
  22. doi request reprint Gender differences in motor and non-motor symptoms among Sardinian patients with Parkinson's disease
    Paolo Solla
    Movement Disorders Center, Department of Neurology, Institute of Neurology, University of Cagliari, Cagliari, Italy
    J Neurol Sci 323:33-9. 2012
    ..To date, gender differences in non-motor symptoms are under-reported...
  23. pmc HLA-DRB1-DQB1 haplotypes confer susceptibility and resistance to multiple sclerosis in Sardinia
    Eleonora Cocco
    Department Public Health, Clinical and Molecular Medicine, University of Cagliari, Cagliari, Italy
    PLoS ONE 7:e33972. 2012
    ....
  24. doi request reprint Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients
    Gianluca Floris
    Centro per i Disordini del Movimento, Dipartimento di Scienze Cardiovascolari e Neurologiche, Sezione Neurologia, University of Cagliari, Cagliari, Italy
    Parkinsonism Relat Disord 15:277-80. 2009
    ..These findings may provide new insights into the importance of studies of frequency of LRKK2 mutations in PD patients originating from small ethnically homogeneous populations...
  25. ncbi request reprint Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes
    Costantino Motzo
    Dipartimento di Scienze Biomediche e Biotecnologie, Universita di Cagliari, Sardinia, Italy
    Diabetes 53:3286-91. 2004
    ....
  26. ncbi request reprint HLA-DR,DQ and APOE genotypes and gender influence in Sardinian primary progressive MS
    E Cocco
    Centro Sclerosi Multipla, Dipartimento di Neuroscienze, Universita di Cagliari, Italy
    Neurology 64:564-6. 2005
    ..81, p = 0.002) in women carrying the APOE4 but not the DRB1-DQB1 predisposing genotype, suggesting in this subgroup of patients a reciprocal influence between these genes and gender in modulating clinical variability of the disease...
  27. doi request reprint Cognitive screening in patients with amyotrophic lateral sclerosis in early stages
    Gianluca Floris
    Dipartimento di Scienze Cardiovascolari e Neurologiche, Sezione Neurologia, Policlinico Universitario, Azienda Ospedaliero Universitaria Cagliari, Universita di Cagliari, Italy
    Amyotroph Lateral Scler 13:95-101. 2012
    ..In conclusion, the FAB can be considered a sensitive cognitive screening tool in these patients. These data will be verified on a larger sample of patients...
  28. pmc Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 Penetrance
    Paolo Solla
    Centro per i Disordini del Movimento, Dipartimento di Scienze Cardiovascolari e Neurologiche, Sezione Neurologia, Universita degli Studi di Cagliari, Via Ospedale 46, 09124 Cagliari, Italy
    Parkinsons Dis 2010:537698. 2010
    ..These data provide no support to the hypothesis whereby such parkin gene mutations may be commonly implicated in possible effect on penetrance in LRRK2 mutation carriers...
  29. doi request reprint Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy
    Paolo Solla
    Centro Sclerosi Multipla, Ospedale Binaghi, University of Cagliari, Cagliari, Italy
    J Neurol Neurosurg Psychiatry 81:958-62. 2010
    ..Heat shock protein 27 (HSP27) mutations have been reported to cause both Charcot-Marie-Tooth disease (CMT) type 2F and distal hereditary motor neuropathy (dHMN) although never previously in a single family...
  30. doi request reprint Levodopa/carbidopa/entacapone-induced acute Pisa syndrome in a Parkinson's disease patient
    Paolo Solla
    Centro per i Disordini del Movimento, Dipartimento di Scienze Cardiovascolari e Neurologiche, Sezione Neurologia, University of Cagliari, Italy
    J Neurol Sci 275:154-6. 2008
    ..This case illustrates how, in contrast to previously well-known chronic/subchronic forms, this axial dystonic posture may occur in PD as an acute onset reversible type, related to levodopa treatment...
  31. doi request reprint Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations
    Nicola Carboni
    Department of Public Health, Clinical and Molecular Medicine, Multiple Sclerosis Centre, Via Is Guadazzonis 2, 09100 Cagliari, University of Cagliari, Italy
    Muscle Nerve 48:161-70. 2013
    ..There is no single explanation of how LMNA gene alterations may cause these disorders; however, important goals have been achieved in understanding the pathogenic effects of LMNA gene mutations on cardiac and skeletal muscle...
  32. ncbi request reprint A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype
    Maria Antonietta Maioli
    Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis 2, Cagliari, Italy
    Muscle Nerve 36:828-32. 2007
    ..The findings from these cases further expand the clinical spectrum associated with mutations in the LMNA gene...
  33. doi request reprint Multiple sclerosis risk: interaction between human leukocyte antigen and the environment in Sardinian population
    E Cocco
    Centro Sclerosi Multipla, Dipartimento di Scienze Cardiovascolari e Neurologiche, Universita di Cagliari, Italy
    Mult Scler 15:1030-6. 2009
    ..The current study was aimed at examining variations in human leukocyte antigen-risk genotypes occurring over time in a cohort of patients...
  34. pmc Population based study of 12 autoimmune diseases in Sardinia, Italy: prevalence and comorbidity
    Claudia Sardu
    Dipartimento di Sanita Pubblica, Universita di Cagliari, Cagliari, Italy
    PLoS ONE 7:e32487. 2012
    ..This paper describes the prevalence of 12 autoimmune diseases in a representative sample of the general population in the South of Sardinia, Italy, and tests the hypothesis of an overall association among these diseases...
  35. doi request reprint Reversible Pisa syndrome in patients with Parkinson's disease on dopaminergic therapy
    Antonino Cannas
    Institute of Neurology, University of Cagliari, Via Ospedale 46, 09124, Cagliari, Italy
    J Neurol 256:390-5. 2009
    ..Several recently published reports of Pisa syndrome (PS) in parkinsonian patients on dopaminergic therapy have described a variable means of onset and clinical course of this truncal dystonia...
  36. pmc Structural and dynamical insights on HLA-DR2 complexes that confer susceptibility to multiple sclerosis in Sardinia: a molecular dynamics simulation study
    Amit Kumar
    Multiple Sclerosis Center, Department of Public Health and Clinical and Molecular Medicine, University of Cagliari, Cagliari, Italy
    PLoS ONE 8:e59711. 2013
    ....
  37. ncbi request reprint The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases
    R Lampis
    Dipartimento di Scienze Biomediche e Biotecnologie, Universita di Cagliari, Ospedale Microcitemico, Via Jenner, Cagliari 09121, Italy
    Hum Mol Genet 9:2959-65. 2000
    ..These results indicate that robust case-control studies can be carried out in Sardinia offering cost efficiency over certain family-based designs...
  38. doi request reprint Dopamine dysregulation syndrome in Parkinson's disease patients with unsatisfactory switching from immediate to extended release pramipexole: a further clue to incentive sensitization mechanisms?
    Paolo Solla
    Movement Disorders Center, Institute of Neurology, University of Cagliari, Cagliari, Italy
    Behav Neurol 27:563-6. 2013
    ..PD patients unsatisfactorily switched from an IR to an ER formulation of dopamine agonists should be considered as at-risk individuals for DDS development. ..
  39. doi request reprint Pathological gambling, delusional parasitosis and adipsia as a post-haemorrhagic syndrome: a case report
    Gianluca Floris
    Dipartimento di Scienze Cardiovascolari e Neurologiche, Ospedale San Giovanni di Dio, ASL 8, Universita di Cagliari, Cagliari, Italy
    Neurocase 14:385-9. 2008
    ..The potential manifestation of PG following a lesion in the above areas may contribute towards furthering the understanding of pathological conditions underlying this disorder...
  40. ncbi request reprint DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population
    M G Marrosu
    Chair of Neurophysiopathology, University of Cagliari, 09124 Cagliari, Italy
    Hum Mol Genet 7:1235-7. 1998
    ..Alternatively, the presence of complex interactions between different HLA haplotypes, other non-HLA predisposing genes and environmental factors may explain different associations in different populations...
  41. ncbi request reprint A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities
    M R Murru
    Centro Sclerosi Multipla, Ospedale Binaghi, Via I Guadazzonis 2, I 09126 Cagliari, Italy
    Neurol Sci 27:18-23. 2006
    ..These data extend previous findings about central nervous system involvement in Cx32 mutated subjects and further support a functional role of the protein expression in oligodendrocytes...
  42. ncbi request reprint Effect of dose and frequency of interferon beta-1a administration on clinical and magnetic resonance imaging parameters in relapsing-remitting multiple sclerosis
    Eleonora Cocco
    Multiple Sclerosis Centre, Binaghi Hospital, Department of Cardiovascular and Neurological Sciences, University of Cagliari, Italy
    Funct Neurol 21:145-9. 2006
    ..3%; p=0.025). These results from patients receiving AVO or R22 in normal clinical practice are in line with randomized clinical studies that show the benefits of high-dose, high-frequency administration of IFN beta-1a in MS therapy...
  43. doi request reprint A case of neurofibromatosis and multiple sclerosis
    Gabriella Spinicci
    Dipartimento di Scienze Cardiovascolari e Neurologiche, Centro Sclerosi Multipla, University of Cagliari, Cagliari, Italy
    Neurol Sci 31:631-4. 2010
    ..2. The association of multiple sclerosis with NF is rarely reported in literature. We describe a patient with NF1, who subsequently developed relapsing-remitting multiple sclerosis...
  44. pmc Therapeutic interventions and adjustments in the management of Parkinson disease: role of combined carbidopa/levodopa/entacapone (Stalevo)
    Paolo Solla
    Movement Disorders Center, Institute of Neurology, University of Cagliari, Cagliari, Italy
    Neuropsychiatr Dis Treat 6:483-90. 2010
    ..Several studies have discussed the potential of entacapone as adjunct to levodopa/ DDCI in reducing plasma homocysteine levels with contrasting results...
  45. ncbi request reprint A new allelic variant of HLA-DRB1*1101 (DRB1*11013) segregating in a Sardinian family
    M R Murru
    Clinic of Infantile Neuropsychiatry, University of Cagliari, Italy
    Tissue Antigens 48:604-6. 1996
  46. ncbi request reprint Anticipation of age at onset in multiple sclerosis: a Sardinian cohort study
    E Cocco
    Department of Neuroscience, University of Cagliari, Italy
    Neurology 62:1794-8. 2004
    ..To assess the temporal trend in multiple sclerosis (MS) onset during the last 50 years in Sardinia, Italy...
  47. ncbi request reprint Allogeneic hematopoietic stem cell transplantation in a patient affected by large granular lymphocyte leukemia and multiple sclerosis
    Giorgio La Nasa
    Centro Trapianti di Midollo Osseo, Centro Regionale Trapianti, Ospedale R Binaghi ASL n degrees 8, Via Is Guadazzonis, 3, 09126 Cagliari, Italy
    Ann Hematol 83:403-5. 2004
    ..This is the first case of allogeneic HSCT in a patient with LGL leukemia and concomitant primary progressive MS. Allogeneic HSCT, performed in our patient to cure the lymphoproliferative disorder, improved the clinical course of MS...
  48. ncbi request reprint Prevalence of primary blepharospasm in Sardinia, Italy: a service-based survey
    Giovanni Cossu
    Neurology Service and Stroke Unit, General Hospital S Michele AOB G Brotzu, Cagliari, Sardinia, Italy
    Mov Disord 21:2005-8. 2006
    ..These results are in line with those obtained in other similar surveys, that is, record-based, and performed in various European regions such as Northern England, the Munich area, as well as the Epidemiologic Study of Dystonia in Europe...
  49. pmc Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations
    Adriano Chio
    Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy
    Arch Neurol 67:1002-9. 2010
    ..However, to our knowledge, there is only 1 description of 2 patients with FTLD and TARDBP gene mutations who later developed motor neuron disease...
  50. ncbi request reprint Vagal nerve stimulation improves cerebellar tremor and dysphagia in multiple sclerosis
    F Marrosu
    Dipartimento di Scienze Neurologiche e Cardiovascolari, University of Cagliari, Italy
    Mult Scler 13:1200-2. 2007
    ..The results obtained suggest an additional therapeutic application for VNS and may represent a novel form of treatment in patients with severe MS...
  51. ncbi request reprint Vagal nerve stimulation effects on cerebellar tremor in multiple sclerosis
    F Marrosu
    Dipartimento di Scienze Neurologiche e Cardiovascolari, University of Cagliari, Italy
    Neurology 65:490. 2005
  52. ncbi request reprint Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy
    F Muntoni
    Istituto di Neuropsichiatria Infantile, Cagliari, Italy
    N Engl J Med 329:921-5. 1993
  53. ncbi request reprint Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene
    M G Marrosu
    Department of Neurophysiopathology, University of Cagliari, Italy
    Neurology 50:1397-401. 1998
    ..The MPZ gene Ser44Phe mutation found in the HMSN II family presented in this study suggests that genetic analysis of HMSN II families should also include the MPZ gene, previously not considered to be involved in the axonal form of HMSN...
  54. doi request reprint Frequency and risk factors of mitoxantrone-induced amenorrhea in multiple sclerosis: the FEMIMS study
    E Cocco
    Department of Cardiovascular and Neurological Science, Multiple Sclerosis Centre, University of Cagliari, Cagliari, Italy
    Mult Scler 14:1225-33. 2008
    ..FErtility and Mitoxantrone In MS (FEMIMS) is a collaborative retrospective study aimed at evaluating the impact of MITO treatment on fertility in women with MS...
  55. ncbi request reprint A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A
    M G Marrosu
    Department of Neuroscience, University of Cagliari, Italy
    Neurology 48:489-93. 1997
    ..Molecular analysis suggests that CMT1A disease in this family is due to the G368-->T point mutation, although other mechanisms may account for the clinical variability in the members of different generations...
  56. ncbi request reprint Susceptibility to multiple sclerosis: the role of interleukin genes
    Maria Giovanna Marrosu
    Lancet Neurol 6:846-7. 2007
  57. ncbi request reprint Age-related disability in multiple sclerosis
    Maria Trojano
    Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy
    Ann Neurol 51:475-80. 2002
    ....
  58. ncbi request reprint Refining the linkage analysis on chromosome 10 in 449 sib-pairs with multiple sclerosis
    Eva Akesson
    Neurology Unit, Addenbrooke s Hospital, University of Cambridge, Cambridge, UK
    J Neuroimmunol 143:31-8. 2003
    ..This additional genotyping increased the information extraction in the region from 52% to 79% and revealed increased support for linkage (MLS 2.5) peaking at 10p15...
  59. ncbi request reprint A genome-wide screen for linkage disequilibrium in Sardinian multiple sclerosis
    Francesca Coraddu
    Neurology Unit, Addenbrooks Hospital, University of Cambridge, Hills Road, Cambridge CB2 2QQ, UK
    J Neuroimmunol 143:120-3. 2003
    ..Five of these markers-D2S408 (2q36), D6S271 (6p21), D6S344 (6p25), D7S1818 (7p12) and D16S420 (16p12)-remained nominally significant in both studies after conservative refining analysis...
  60. ncbi request reprint Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans
    Maria Ban
    University of Cambridge, Department of Clinical Neurosciences, Addenbrooke s Hospital, Hills Road, Cambridge, UK
    J Neuroimmunol 179:108-16. 2006
    ..Association mapping across the candidate genes implicated by these markers in 937 UK trio families revealed modestly associated haplotypes in JAG1 (p=0.019) on chromosome 20p12.2 and POU2AF1 (p=0.003) on chromosome 11q23.1...
  61. ncbi request reprint Parental transmission of multiple sclerosis: maternal, paternal, or neither?
    Maria Giovanna Marrosu
    Neurology 69:1202-3. 2007
  62. ncbi request reprint Imaging brain damage in first-degree relatives of sporadic and familial multiple sclerosis
    Nicola De Stefano
    Department of Neurological and Behavioural Sciences, University of Siena, Italy
    Ann Neurol 59:634-9. 2006
    ..Our objective was to assess brain damage in first-degree relatives of patients with sporadic and familial multiple sclerosis (MS)...