List of works by Maria Giovanna Marrosu

A case of neurofibromatosis and multiple sclerosis

scientific article published on 28 April 2010

A comparison of the brief international cognitive assessment for multiple sclerosis and the brief repeatable battery in multiple sclerosis patients

scientific article published on 15 October 2015

A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: the TARDBP Ala382Thr mutation and C9orf72 expansion.

scientific article published on 26 July 2015

A genome screen for multiple sclerosis in Sardinian multiplex families

scientific article published on 01 August 2001

A genome-wide screen for linkage disequilibrium in Sardinian multiple sclerosis

scientific article published in October 2003

A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy

scientific article published on 16 September 2014

A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery–Dreifuss muscular dystrophy phenotype

scientific article published on 01 December 2007

A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD

scientific article

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

scientific article

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

scientific article published on 25 June 2015

Aberrant sexual behaviours in Parkinson’s disease during dopaminergic treatment

scientific article published on 01 January 2007

Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5

article

Age-related disability in multiple sclerosis

scientific article published on 01 April 2002

Allogeneic hematopoietic stem cell transplantation in a patient affected by large granular lymphocyte leukemia and multiple sclerosis.

scientific article

Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations

scientific article published on August 2010

An unusual infection in MS patient treated with dimethyl fumarate: A case report of omphalitis.

scientific article published on 21 March 2016

Analysis of an IFN- gamma gene (IFNG) Polymorphism in Multiple Sclerosis in Europe: Effect of Population Structure on Association with Disease

article

Analyzing Histopathological Features of Rare Charcot-Marie-Tooth Neuropathies to Unravel Their Pathogenesis

Anti Mycobacterium avium subsp. paratuberculosis heat shock protein 70 antibodies in the sera of Sardinian patients with multiple sclerosis

scientific article published on 13 September 2013

Antigenic epitopes of MAP2694 homologous to T-cell receptor gamma-chain are highly recognized in multiple sclerosis Sardinian patients.

scientific article

Antigenic peptide molecular recognition by the DRB1-DQB1 haplotype modulates multiple sclerosis susceptibility

scientific article published on August 2014

Are Mycobacterium avium subsp. paratuberculosis and Epstein-Barr virus triggers of multiple sclerosis in Sardinia?

scientific article published on 19 January 2012

Association of Mycobacterium avium subsp. paratuberculosis and SLC11A1 polymorphisms in Sardinian multiple sclerosis patients.

scientific article published on 14 March 2013

Association of Mycobacterium avium subsp. paratuberculosis with multiple sclerosis in Sardinian patients

scientific article (publication date: 13 April 2011)

Attitude towards physical activity in patients with multiple sclerosis: a cohort study

scientific article published on 4 February 2015

Bipolar affective disorder preceding frontotemporal dementia in a patient with C9ORF72 mutation: is there a genetic link between these two disorders?

scientific article published on 13 January 2013

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

scientific article

C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population

scientific article published on 15 August 2015

Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy

scientific article published on 10 October 2011

Carpal tunnel syndrome triggered by excessive licorice consumption

scientific article published on 01 March 2009

Cerebrospinal fluid lymphocyte subpopulations in multiple sclerosis

scientific article published on 01 February 1986

Chromosome 7q21–22 and multiple sclerosis: evidence for a genetic susceptibility effect in vicinity to the protachykinin-1 gene

article

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

scientific article published on 26 September 2011

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

scientific article published on March 2012

Cognitive screening in patients with amyotrophic lateral sclerosis in early stages

scientific article published on 6 September 2011

Communicating the diagnosis of multiple sclerosis - a qualitative study

scientific article published on 15 March 2007

Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype

scientific article

Cytokine production in patients carrying multiple sclerosis-linked HLA-DR alleles

scientific article published on 01 December 1999

Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation

scientific article published in January 2006

Diagnostic tools for assessment of urinary dysfunction in MS patients without urinary disturbances

scientific article published on 27 November 2015

Dopamine agonist withdrawal syndrome (DAWS) symptoms in Parkinson's disease patients treated with levodopa-carbidopa intestinal gel infusion

scientific article published on 10 June 2015

Dopamine dysregulation syndrome in Parkinson's disease patients on duodenal levodopa infusion

scientific article published in June 2013

Dopamine dysregulation syndrome in Parkinson's disease patients on levodopa-carbidopa intestinal gel.

scientific article published on 25 September 2015

Dopaminergic drugs, paraphilic fantasies, paraphilic behaviours and creativity in Parkinson's disease

scientific article published on 11 February 2010

Dynamical insights into the differential characteristics of Mycobacterium avium subsp. paratuberculosis peptide binding to HLA-DRB1 proteins associated with multiple sclerosis

article published in 2015

EBNA-1 IgG titers in Sardinian multiple sclerosis patients and controls

scientific article published on 3 August 2013

Effect of spasticity on kinematics of gait and muscular activation in people with Multiple Sclerosis

scientific article

Effectiveness and Limitations of Unsupervised Home-Based Balance Rehabilitation with Nintendo Wii in People with Multiple Sclerosis

scientific article published on 25 October 2015

Efficacy and safety of cannabinoid oromucosal spray for multiple sclerosis spasticity

scientific article published on 09 May 2016

Efficacy and safety of quetiapine treatment for delusional parasitosis: experience in an elderly patient

scientific article published in September 2008

Epidemiology of multiple sclerosis in south-western Sardinia

scientific article

Epidural analgesia and cesarean delivery in multiple sclerosis post-partum relapses: the Italian cohort study.

scientific article

Epitopes of HERV-Wenv induce antigen-specific humoral immunity in multiple sclerosis patients

scientific article

Epstein Barr Virus and Mycobacterium avium subsp. paratuberculosis peptides are recognized in sera and cerebrospinal fluid of MS patients

scientific article published on 9 March 2016

Epstein-Barr virus and Mycobacterium avium subsp. paratuberculosis peptides are cross recognized by anti-myelin basic protein antibodies in multiple sclerosis patients.

scientific article published on 6 March 2014

Erratum to: Guidelines on the clinical use for the detection of neutralizing antibodies (NAbs) to IFN beta in multiple sclerosis therapy: report from the Italian Multiple Sclerosis Study group

article

Evaluation of the humoral response against mycobacterial peptides, homologous to MOG₃₅₋₅₅, in multiple sclerosis patients

scientific article published on 22 September 2014

Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments

scientific article published on 01 May 1994

Familial effects on the clinical course of multiple sclerosis

scientific article published on 01 January 2007

Fingolimod versus interferon beta/glatiramer acetate after natalizumab suspension in multiple sclerosis

scientific article published on 11 September 2015

Fluctuations of MS births and UV-light exposure.

scientific article

Frequency and risk factors of mitoxantrone-induced amenorrhea in multiple sclerosis: the FEMIMS study.

scientific article published on 13 August 2008

Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?

scientific article

Gender differences in motor and non-motor symptoms among Sardinian patients with Parkinson's disease

scientific article

Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations

scientific article published on 28 June 2013

Genetic architecture of ALS in Sardinia

scientific article

Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia

scientific article

Genetic variations and humoral immune responses to myelin oligodendroglia glycoprotein in adult phenotypes of X-linked adrenoleukodystrophy

article

Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1

scientific article (publication date: 2012)

Guidelines from The Italian Neurological and Neuroradiological Societies for the use of magnetic resonance imaging in daily life clinical practice of multiple sclerosis patients

scientific article

Guidelines on the clinical use for the detection of neutralizing antibodies (NAbs) to IFN beta in multiple sclerosis therapy: report from the Italian Multiple Sclerosis Study group.

scientific article published on 29 December 2013

HLA-DRB1-DQB1 haplotypes confer susceptibility and resistance to multiple sclerosis in Sardinia

scientific article

Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy

scientific article published on 26 July 2010

Heterogeneity in the Magnitude of the Insulin Gene Effect on HLA Risk in Type 1 Diabetes

article

Human interferon regulatory factor 5 homologous epitopes of Epstein-Barr virus and Mycobacterium avium subsp. paratuberculosis induce a specific humoral and cellular immune response in multiple sclerosis patients.

scientific article

Hypersexual behaviour, frotteurism and delusional jealousy in a young parkinsonian patient during dopaminergic therapy with pergolide: A rare case of iatrogenic paraphilia

scientific article published on 09 August 2006

ICAM-1 gene is not associated with multiple sclerosis in sardinian patients

article

Imaging brain damage in first-degree relatives of sporadic and familial multiple sclerosis

scientific article published in April 2006

Influence of treatments in multiple sclerosis disability: A cohort study

scientific article published on 25 September 2014

Interaction between HLA-DRB1-DQB1 haplotypes in Sardinian multiple sclerosis population

scientific article

Interaction of loci within the HLA region influences multiple sclerosis course in the Sardinian population

scientific article published on 17 August 2005

Lack of evidence for a role of the myelin basic protein gene in multiple sclerosis susceptibility in Sardinian patients

article

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene

scientific article

Lateral trunk flexion and Pisa syndrome in Parkinson's disease. Are they really always different conditions although denoting similar features?

scientific article published on 26 February 2008

Levodopa/carbidopa/entacapone-induced acute Pisa syndrome in a Parkinson's disease patient

scientific article published on 23 September 2008

Linkage disequilibrium analysis of chromosome 12q14-15 in multiple sclerosis: delineation of a 118-kb interval around interferon-gamma (IFNG) that is involved in male versus female differential susceptibility.

scientific article published in December 2002

Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans

scientific article

Long-term results of immunomodulatory treatment in children and adolescents with multiple sclerosis: the Italian experience.

scientific article published on 22 April 2009

Lymphocyte subsets at different stages of subacute sclerosing panencephalitis: a study with monoclonal antibodies.

scientific article

Medulloblastoma induces unusual headache with clinical picture of basilar-type migraine complicated by ischaemic infarcts.

scientific article published in October 2006

Mitoxantrone treatment in patients with early relapsing-remitting multiple sclerosis.

scientific article published on 27 April 2007

Monoclonal antibodies: a target therapy for multiple sclerosis

scientific article published on January 2014

Multiple Spontaneous Cerebral Microbleeds and Leukoencephalopathy in PSEN1-Associated Familial Alzheimer's Disease: Mirror of Cerebral Amyloid Angiopathy?

scientific article published in August 2015

Multiple sclerosis and bipolar disorders: the burden of comorbidity and its consequences on quality of life

scientific article

Multiple sclerosis risk: interaction between human leukocyte antigen and the environment in Sardinian population

scientific article published on 22 July 2009

Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation

scientific article published on 11 March 2008

Natalizumab in aggressive multiple sclerosis after haematopoietic stem cell transplantation.

scientific article published on 25 November 2011

Natalizumab therapy of multiple sclerosis: recommendations of the Multiple Sclerosis Study Group—Italian Neurological Society

article

Neuroactive steroid levels in plasma and cerebrospinal fluid of male multiple sclerosis patients

scientific article published on 28 May 2014

Novel characterization of gait impairments in people with multiple sclerosis by means of the gait profile score

scientific article published on 19 July 2014

Occurrence and clinical relevance of an interleukin-4 gene polymorphism in patients with multiple sclerosis

scientific article published in June 1997

Opposite roles of NMDA receptors in relapsing and primary progressive multiple sclerosis

scientific article

PECAM1, MPO and PRKAR1A at chromosome 17q21-q24 and susceptibility for multiple sclerosis in Sweden and Sardinia

scientific article published on 01 August 2000

Parental transmission of multiple sclerosis: Maternal, paternal, or neither?

article

Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 Penetrance

scientific article published on 19 August 2010

Paternal therapy with disease modifying drugs in multiple sclerosis and pregnancy outcomes: a prospective observational multicentric study

scientific article

Pathological gambling, delusional parasitosis and adipsia as a post-haemorrhagic syndrome: a case report

scientific article published on 27 September 2008

Patients with multiple sclerosis and risk of type 1 diabetes mellitus in Sardinia, Italy: a cohort study

scientific article published in The Lancet

Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred

scientific article published on 17 November 2015

Polymerase chain reaction analysis for specific HTLV-1 sequences from cerebrospinal fluid and peripheral blood cells in Sardinian multiple sclerosis patients.

scientific article

Population based study of 12 autoimmune diseases in Sardinia, Italy: prevalence and comorbidity

scientific article

Post-natalizumab clinical and radiological findings in a cohort of multiple sclerosis patients: 12-month follow-up

scientific article

Postpartum relapses increase the risk of disability progression in multiple sclerosis: the role of disease modifying drugs

scientific article published on 8 January 2014

Pregnancy and fetal outcomes after Glatiramer Acetate exposure in patients with multiple sclerosis: a prospective observational multicentric study

scientific article

Premutation for the martin-bell syndrome analyzed in a large sardinian family: II. Neuropsychological and behavioral data ⬇️

scientific article published on May 15, 1992

Prevalence of primary blepharospasm in Sardinia, Italy: A service-based survey

article

Profile of PEGylated interferon beta in the treatment of relapsing-remitting multiple sclerosis

scientific article

Progressive apraxia of speech in a patient with a C9orf72 mutation

Progressive multiple sclerosis and mood disorders.

scientific article published on 22 April 2015

Prospective study of multiple sclerosis with early onset

scientific article

Quantifying gait impairment in individuals affected by Charcot-Marie-Tooth disease: the usefulness of gait profile score and gait variable score

scientific article published on 18 October 2018

Quantitative assessment of the effects of 6 months of adapted physical activity on gait in people with multiple sclerosis: a randomized controlled trial

scientific article published on 13 January 2017

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

scientific article

Refining the linkage analysis on chromosome 10 in 449 sib-pairs with multiple sclerosis

scientific article published on 01 October 2003

Relationship between gait initiation and disability in individuals affected by multiple sclerosis.

scientific article published on 25 September 2015

Reversible Pisa syndrome in patients with Parkinson's disease on dopaminergic therapy

scientific article published on 18 March 2009

Role of interferon-beta in Mycobacterium avium subspecies paratuberculosis antibody response in Sardinian MS patients

scientific article published on 09 January 2015

Serum BAFF levels, Methypredsinolone therapy, Epstein-Barr Virus and Mycobacterium avium subsp. paratuberculosis infection in Multiple Sclerosis patients

scientific article published on 7 July 2016

Soluble BAFF Level Is Not Correlated to Mycobacterium avium Subspecies Paratuberculosis Antibodies and Increases After Interferon-β Therapy in Multiple Sclerosis Patients.

scientific article published on 2 July 2016

Spinal cord involvement during hypertensive encephalopathy: clinical and radiological findings

scientific article published on 18 January 2008

Structural and dynamical insights on HLA-DR2 complexes that confer susceptibility to multiple sclerosis in Sardinia: a molecular dynamics simulation study

scientific article

Subacute Sclerosing Panencephalitis and Hypoparathyroidism

scientific article published on 01 January 1985

Surface Markers on Lymphocytes from Human Cerebrospinal Fluid

scientific article published on 01 January 1980

Susceptibility to multiple sclerosis: the role of interleukin genes

article

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

scientific article published on 9 April 2016

The Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS): normative values with gender, age and education corrections in the Italian population

scientific article

The burden of multiple sclerosis variants in continental Italians and Sardinians

scientific article published on October 2015

The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone

scientific article published on 7 October 2004

The cohort of the multiple sclerosis center of Cagliari.

scientific article published in January 2011

The current role of mitoxantrone in the treatment of multiple sclerosis

scientific article published on 16 May 2014

The neuropeptide genes TAC1, TAC3, TAC4, VIP and PACAP(ADCYAP1), and susceptibility to multiple sclerosis.

scientific article

The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms

scientific article published on 2 April 2013

The pharmacovigilance program on natalizumab in Italy: 2 years of experience

scientific article published in October 2009

The risk of Bipolar Disorders in Multiple Sclerosis.

scientific article

Three years of experience: the Italian registry and safety data update.

scientific article

Transient unilateral spatial neglect during aura in a woman with sporadic hemiplegic migraine

scientific article

Treatment of early-onset multiple sclerosis with intramuscular interferonbeta-1a: long-term results.

scientific article

Treatment of refractory chronic inflammatory demyelinating polyneuropathy with interferon beta 1B.

scientific article

Ultrarapid mood cycling in a Parkinsonian patient: is not always simply an "on-off" fluctuation--a case report.

scientific article published on 24 October 2007

Use of herbal remedies by multiple sclerosis patients: a nation-wide survey in Italy.

scientific article

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

scientific journal article

Variation of the myelin oligodendrocyte glycoprotein gene is not primarily associated with multiple sclerosis in the Sardinian population

scientific article

Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia.

scientific article

Vitamin D responsive elements within the HLA-DRB1 promoter region in Sardinian multiple sclerosis associated alleles

scientific article

Walking improvements with nabiximols in patients with multiple sclerosis

scientific article published on 5 August 2015

What do multiple sclerosis patients and their caregivers perceive as unmet needs?

scientific article

X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter.

scientific article published in April 1992

mtDNA nt13708A variant increases the risk of multiple sclerosis

scientific article

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