IL PORTALE per la RICERCA dei DIPARTIMENTI

Pezzella M (2012) " 1.Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. "

Maghnie M (2012) "19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias."

Ravelli A, Maghnie M, Di Iorgi N, A. MARTINI (2012) "A longitudinal printo study on growth and puberty in juvenile systemic lupus erythematosus."

C. Malattia, S. Pederzoli, A. Ravelli, A. Martini (2012) "A novel automated system for MRI quantification of the inflamed synovial membrane volume in patients with juvenile idiopathic arthritis."

Ravelli A, Martini A (2012) "A phase II, multicenter, open-label study evaluating dosing and preliminary safety and efficacy of canakinumab in systemic juvenile idiopathic arthritis with active systemic features."

G. Mancardi (2012) "A prospective, randomized, controlled trial of autologous haematopoietic stem cell transplantation for aggressive multiple sclerosis: a position paper."

M. Pardini (2012) "A voxel-based lesion study on facial emotion recognition after penetrating brain injury"

Sondo E (2012) "Alternative Splicing of In-Frame Exon Associated with Premature Termination Codons: Implication for Readthrough Therapies"

Striano P (2012) "An international pilot study of an internet-based platform to facilitate clinical research in epilepsy: The EpiNet project."

A. Martini (2012) "An international registry on autoinflammatory diseases: the Eurofever experience."

Mirabelli-Badenier M, Morana G, Uccelli A, Veneselli E, Baglietto MG (2012) "Anti-Glutamic Acid Decarboxylase Limbic Encephalitis Without Epilepsy Evolving Into Dementia With Cerebellar Ataxia"

Striano P (2012) "Autosomal dominant cortical tremor, myoclonus, and epilepsy: is the origin in the cerebellum? Editorial."

Lee JM, REGISTRY study of the European Huntington's Disease Network (2012) "CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. "

G. Mancardi, P. Mandich (2012) "Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72."

Salina A, Lorini R (2012) "Comment on: Clinical application of best practice guidelines for genetic diagnosis of MODY2."

E. Bonioli (2012) "Congenital fetal and neonatal visceral chylous effusions: neonatal chylothorax and chylous ascites revisited. A multicenter retrospective study."

G. Martucciello (2012) "Connective tissue in gut development: a key player in motility and in intestinal desmosis"

Schenone A (2012) "Consistence and discrepancy of neuropathic pain screening tools DN4 and ID-Pain."

Amore M (2012) "Cyclothymic-depressive-anxious temperament pattern is related to suicide risk in 346 patients with major mood disorders"

De Grandis E, Veneselli E (2012) "De novo mutations in ATP1A3 cause alternating hemiplegia of childhood"

Emmanuele V (2012) "Decreased hippocampal expression of calbindin D28K and cognitive impairment in MELAS."

DISMOV-SIN Study Group on Psychogenic Movement Disorders. (2012) "Diagnostic agreement in patients with psychogenic movement disorders."

Quarrell OW, European Huntington’s Disease Network. (2012) "Discrepancies in reporting the CAG repeat lengths for Huntington's disease."

Mario Amore (2012) "Do Stroke Patients have an Increased Risk of Developing Suicidal Ideation or Dying by Suicide? An Overview of the Current Literature"

Striano P (2012) "Do regulatory regions matter in FOXG1 duplications?"

Massimo Nicolò, Carlo EnricoTraverso (2012) "Eales Disease Associated with Serpiginous Choroiditis"

Pier Luigi Venturini (2012) "Early Invasive Cervical Cancer During Pregnancy"

C. E. Traverso (2012) "Efficacy and safety of preservative-free latanoprost eyedrops, compared with BAK-preserved latanoprost in patients with ocular hypertension or glaucoma"

P. Striano (2012) "Electroencephalographic Features in Dravet Syndrome: Five-Year Follow-Up Study in 22 Patients."

Martini A (2012) "Ethics bureaucracy: a significant hurdle for collaborative follow-up of drug effectiveness in rare childhood diseases."

Mario Amore (2012) "Evaluation of the effect of duloxetine treatment on functioning as measured by the Sheehan disability scale"

M Pardini (2012) "Fatty-acid amide hydrolase polymorphisms and post-traumatic stress disorder after penetrating brain injury"

E. Majounie, F. r. network (2012) "Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study."

Striano P (2012) "GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy."

Capponi S., Bellone E., Mandich P., Mancardi G., Schenone A., Grandis M. (2012) "Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations"

Striano P (2012) "Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32."

P. Striano (2012) "Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies."

G. Mancardi (2012) "Haematopoietic SCT in severe autoimmune diseases: updated guidelines of the European Group for Blood and Marrow Transplantation."

Simone Ferrero, Pier Luigi Venturini (2012) "Hemostasis by Bipolar Coagulation Versus Suture After Surgical Stripping of Bilateral Ovarian Endometriomas: A Randomized Controlled Trial"

Emmanuele V (2012) "Heterogeneity of coenzyme Q10 deficiency: patient study and literature review."

Amore M (2012) "How does subjective experience of pain relate to psychopathology among psychiatric patients? "

Baldassari S, Minetti C. (2012) "Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein."

Belvederi Murri M (2012) "Hypothalamic-pituitary-adrenal axis and clinical symptoms in first-episode psychosis."

Mirabelli Badenier M (2012) "Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems"

A. Ravelli (2012) "Inactive disease and remission in childhood-onset systemic lupus erythematosus."

Emmanuele V (2012) "Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation."

Martini A (2012) "Joint European League Against Rheumatism and European Renal Association-European Dialysis and Transplant Association (EULAR/ERA-EDTA) recommendations for the management of adult and paediatric lupus nephritis."

Malattia C (2012) "MRI assessment of bone marrow in children with juvenile idiopathic arthritis: intra- and inter-observer variability."

Malattia C, Martini A (2012) "MRI of the wrist in juvenile idiopathic arthritis: proposal of a paediatric synovitis score by a consensus of an international working group. Results of a multicentre reliability study. "

Malattia C, Pederzoli S, Palmisani E, Ravelli A, Martini A. (2012) "MRI versus conventional measures of disease activity and structural damage in evaluating treatment efficacy in juvenile idiopathic arthritis. "

A. Ravelli (2012) "Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment."

Pezzella M, Striano P, Minetti C (2012) "Magnetic Resonance Imaging "Tigroid Pattern" in Alexander Disease."

Bisio A (2012) "Measuring human-robot interaction through motor resonance"

Bisio A (2012) "Motor resonance mechanisms are preserved in Alzheimer's disease patients"

Amore M (2012) "Multi-scale motility amplitude associated with suicidal thoughts in major depression"

A. Uccelli (2012) "Neurorepair with mesenchymal stem cells: hope or hype?"

M. LEANDRI (2012) "Nociceptive trigeminal reflexes in non-sedated horses"

P. Striano (2012) "Non-resective surgery and radiosurgery for treatment of drug-resistant epilepsy."

Cerone R (2012) "Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening."

Striano P (2012) "PRRT2 Mutations are the major cause of benign familial infantile seizures"

G. Abbruzzese (2012) "Parkinson's disease accelerates age-related decline in haptic perception by altering somatosensory integration"

Mirabelli-Badenier M, Veneselli E (2012) "Pathophysiological role of inflammatory molecules in paediatric ischaemic brain injury."

Ravelli A, Martini A (2012) "Performance of Birmingham Vasculitis Activity Score and disease extent index in childhood vasculitides."

Martini A (2012) "Phagocyte-specific S100 proteins and high-sensitivity C reactive protein as biomarkers for a risk-adapted treatment to maintain remission in juvenile idiopathic arthritis: a comparative study."

European Huntington's Disease Initiative Study Group. (2012) "Placebo effect characteristics observed in a single, international, longitudinal study in Huntington's disease."

Ravelli A, Martini A (2012) "Randomized trial of tocilizumab in systemic juvenile idiopathic arthritis."

Brugnolo A (2012) "Resting metabolic connectivity in prodromal Alzheimer's disease. A European Alzheimer Disease Consortium (EADC) project."

Veneselli E, Pintaudi M (2012) "Rett networked database: An integrated clinical and genetic network of rett syndrome databases"

Mirabelli Badenier M (2012) "Statins in the treatment of acute ischemic stroke."

Amore M (2012) "Substance abuse and suicide risk among adolescents"

Mario Amore (2012) "Suicide risk in multiple sclerosis: A systematic review of current literature"

A. Laroni, A. Uccelli (2012) "T-cell trafficking in the central nervous system."

Fiorillo C (2012) "TRPV4 mutations in children with congenital distal spinal muscular atrophy"

Amore M (2012) "Temperaments mediate suicide risk and psychopathology among patients with bipolar disorders"

A. Uccelli (2012) "Th17 Cells in Multiple Sclerosis Express Higher Levels of JAK2, Which Increases Their Surface Expression of IFN-¿R2."

Girtler N, Brugnolo A (2012) "The Short Cognitive Evaluation Battery in Cognitive Disorders of the Elderly - Italian Version."

IST-3 collaborative group (2012) "The benefits and harms of intravenous thrombolysis with recombinant tissue plasminogen activator within 6 h of acute ischaemic stroke (the third international stroke trial [IST-3]): a randomised controlled trial."

Schenone A (2012) "The chemotherapy-induced peripheral neuropathy outcome measures standardization study: from consensus to the first validity and reliability findings."

P. Striano (2012) "The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies."

Martini A (2012) "Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review."

M. Amore (2012) "Trends in alcohol-related deaths in the EU countries in 1980-2003"

Martini A (2012) "Two randomized trials of canakinumab in systemic juvenile idiopathic arthritis."

Pintaudi M, Veneselli E (2012) "Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases"

Iester M (2012) "Visual field morphology in high- and normal-tension glaucoma"

Mario Amore (2012) "White matter hyperintensities and self-reported depression in a sample of patients with chronic headache"

Salina A, Lorini R (2012) "Wolfram syndrome: new mutations, different phenotype."

M. Pardini (2012) "13 Action naming impairment in Corticobasal Syndrome"