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List of works by Vincenzo Silani

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

scientific article

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

scientific article

A preliminary comparison between ECAS and ALS-CBS in classifying cognitive–behavioural phenotypes in a cohort of non-demented amyotrophic lateral sclerosis patients

scientific article published on 19 August 2021

A role for the ELAV RNA-binding proteins in neural stem cells: stabilization of Msi1 mRNA.

scientific article published in April 2006

A susceptibility-weighted imaging qualitative score of the motor cortex may be a useful tool for distinguishing clinical phenotypes in amyotrophic lateral sclerosis

scientific article published on 04 September 2020

Advance care planning and mental capacity in ALS: a current challenge for an unsolved matter

scientific article published on 20 May 2020

Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality

article

Amyotrophic lateral sclerosis care in Italy: a nationwide study in neurological centers.

scientific article published in October 2001

An old woman with pressure ulcer, rigidity, and opisthotonus: never forget tetanus!

scientific article

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

scientific article published on 09 September 2009

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.

scientific article published on 2 July 2013

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

scientific article

Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy

scientific article

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

Beta-nerve growth factor (beta-NGF) mRNA expression in the parkinsonian adrenal gland

scientific article published in August 1991

Blood pressure and LDL-cholesterol targets for prevention of recurrent strokes and cognitive decline in the hypertensive patient: design of the European Society of Hypertension-Chinese Hypertension League Stroke in Hypertension Optimal Treatment ran

scientific article

Blood pressure and low-density lipoprotein-cholesterol lowering for prevention of strokes and cognitive decline: a review of available trial evidence

scientific article published on September 2014

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

scientific article published on 4 July 2012

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis

scientific article

C9orf72 repeat expansions are restricted to the ALS-FTD spectrum

scientific article published on 2 October 2013

CSF Aβ40 and P-tau181 might differentiate atypical from typical AD phenotypes: preliminary evidence

scientific article published in 2022

Carotid artery stenting in patients with acute coronary syndrome: a possible primary therapy for symptomatic carotid stenosis.

scientific article published in August 2013

Cerebrospinal fluid phosphorylated neurofilament heavy chain and chitotriosidase in primary lateral sclerosis

scientific article published on 27 August 2020

Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases.

scientific article published on 28 February 2018

Charles Bonnet syndrome: two case reports and review of the literature ⬇️

scientific article published on 05 February 2013

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

scientific article published on October 2010

Clinical and pathological features in hydrocarbon-induced parkinsonism

scientific article published in December 1996

Clinical trials in amyotrophic lateral sclerosis: why so many negative trials and how can trials be improved?

scientific article

Cobalamin as a regulator of serum and cerebrospinal fluid levels of normal prions.

scientific article published on 10 November 2012

Consistent bone marrow-derived cell mobilization following repeated short courses of granulocyte-colony-stimulating factor in patients with amyotrophic lateral sclerosis: results from a multicenter prospective trial

scientific article

Correction to: A susceptibility-weighted imaging qualitative score of the motor cortex may be a useful tool for distinguishing clinical phenotypes in amyotrophic lateral sclerosis

scientific article published on 27 November 2020

Defining the role of the Bcl-2 family proteins in Huntington's disease

scientific article

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

scientific article published on 01 January 1996

Detection of beta-nerve growth factor mRNA in the human fetal brain.

scientific article published in June 1990

Development of dopaminergic neurons in the human mesencephalon and in vitro effects of basic fibroblast growth factor treatment

scientific article

Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.

scientific article published on 7 September 2013

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS.

scientific article

Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS.

scientific article

Dose dependent side effect of superparamagnetic iron oxide nanoparticle labeling on cell motility in two fetal stem cell populations

scientific article

Dysphagia in amyotrophic lateral sclerosis: prevalence and clinical findings.

scientific article

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force

scientific article published on 14 September 2011

EFNS guidelines on the use of neuroimaging in the management of motor neuron diseases

scientific article published on 2 February 2010

EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives

scientific article published in December 2005

ELAV proteins along evolution: back to the nucleus?

scientific article published on 22 February 2013

Early vacuolization and mitochondrial damage in motor neurons of FALS mice are not associated with apoptosis or with changes in cytochrome oxidase histochemical reactivity.

scientific article published in October 2001

Endovascular management of symptomatic cerebral malperfusion due to carotid dissection after type A aortic dissection repair.

scientific article published in October 2011

Expanding the phenotype of <i>TARDBP</i> mutation in a Tunisian family with clinical phenotype heterogeneity

scientific article published in 2022

Expression study of survival motor neuron gene in human fetal tissues

scientific article published in June 1997

Extramotor damage is associated with cognition in primary lateral sclerosis patients

scientific article

Focus on the heterogeneity of amyotrophic lateral sclerosis

scientific article published on 25 June 2020

Free insulin-like growth factor (IGF)-1 and IGF-binding proteins-2 and -3 in serum and cerebrospinal fluid of amyotrophic lateral sclerosis patients

scientific article published on 21 October 2009

Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group

scientific article published on August 2007

Guidelines for the preclinical in vivo evaluation of pharmacological active drugs for ALS/MND: report on the 142nd ENMC international workshop

scientific article published in August 2007

High conservation of the trinucleotide [CTG]n repeat at the myotonic dystrophy locus in nonhuman primates

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

scientific article published in April 2009

Human fetal brain beta-nerve growth factor cDNA: molecular cloning of 5' and 3' untranslated regions

scientific article published in June 1991

Human salivary Raman fingerprint as biomarker for the diagnosis of Amyotrophic Lateral Sclerosis

scientific article published on 23 June 2020

Huntington's disease: the current state of research with peripheral tissues.

scientific article published on 19 May 2009

IPLEX and the Telephone Game: The difficulty in separating myth from reality on the internet

scientific article published on 01 June 2009

Identification of multiple transcribed sequences from the spinal muscular atrophy region of human chromosome 5.

scientific article published in January 1995

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

scientific article published on 18 December 2007

Impaired expression of insulin-like growth factor-1 system in skeletal muscle of amyotrophic lateral sclerosis patients.

scientific article published in February 2012

Increased apoptosis, Huntingtin inclusions and altered differentiation in muscle cell cultures from Huntington's disease subjects

scientific article published on 26 May 2006

Inter-Species Differences in Regulation of the Progranulin-Sortilin Axis in TDP-43 Cell Models of Neurodegeneration

scientific article published on 22 November 2019

Intracerebral haemorrhage, a possible presentation in Churg-Strauss syndrome: Case report and review of the literature ⬇️

scientific article published on November 20, 2010

Intracerebroventricular administration of human umbilical cord blood cells delays disease progression in two murine models of motor neuron degeneration

scientific article

Intrahemispheric and interhemispheric structural network abnormalities in PLS and ALS.

scientific article published on 30 April 2013

Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome

scientific article published in July 1999

Italian Frontotemporal Dementia Network (FTD Group-SINDEM): sharing clinical and diagnostic procedures in Frontotemporal Dementia in Italy.

scientific article published on 21 December 2014

Longitudinal tracking of human fetal cells labeled with super paramagnetic iron oxide nanoparticles in the brain of mice with motor neuron disease

scientific article

Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease

scientific article (publication date: 20 July 2001)

Low brain-derived neurotrophic factor (BDNF) levels in serum of Huntington's disease patients.

scientific article

Macular preservation with bilateral visual field defect caused by embolic occlusion of the posterior cerebral arteries

scientific article published in January 1999

Management of Amyotrophic Lateral Sclerosis

Manifesting carrier of X-linked Duchenne muscular dystrophy

scientific article published on 01 March 1981

Metabolic impairment and membrane abnormality in red cells from Huntington's disease.

scientific article

Metalloproteinase alterations in the bone marrow of ALS patients

scientific article published on 21 January 2010

Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.

scientific article published on July 2010

Modeling Electric Fields in Transcutaneous Spinal Direct Current Stimulation: A Clinical Perspective

Molecular and phenotypic characterization of human amniotic fluid cells and their differentiation potential.

scientific article

Molecular signatures of amyotrophic lateral sclerosis disease progression in hind and forelimb muscles of an SOD1(G93A) mouse model

scientific article

Morphological differentiation of astroglial progenitor cells from EGF-responsive neurospheres in response to fetal calf serum, basic fibroblast growth factor, and retinol.

scientific article

Motor neuron differentiation of iPSCs obtained from peripheral blood of a mutant TARDBP ALS patient

scientific article published on 17 May 2018

Motor neurone metabolism.

scientific article

Multicentre quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis

Multiple neurogenic and neurorescue effects of human mesenchymal stem cell after transplantation in an experimental model of Parkinson's disease.

scientific article published on 26 November 2009

Mutant Huntingtin induces activation of the Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3)

scientific article

Mutational analysis of TARDBP in neurodegenerative diseases

scientific article

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis

scientific article published on 3 December 2011

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.

scientific article

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

scientific article

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

scientific article

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

article

Neuro-glial differentiation of human bone marrow stem cells in vitro.

scientific article published in June 2005

Neuroimaging in the Management of Motor Neuron Diseases

Neuroprotective effects of human mesenchymal stem cells on neural cultures exposed to 6-hydroxydopamine: implications for reparative therapy in Parkinson's disease

scientific article published on 01 March 2012

Neurorescue effects and stem properties of chorionic villi and amniotic progenitor cells.

scientific article

No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis

scientific article published on 01 August 2018

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

article

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

scientific article

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

scientific article published on 25 May 2011

Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.

scientific article published in July 2012

Paraoxonase gene mutations in amyotrophic lateral sclerosis

scientific article

Parkin regulates kainate receptors by interacting with the GluK2 subunit

scientific article

Phase II/III randomized trial of TCH346 in patients with ALS

scientific article (publication date: 21 August 2007)

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families

scientific article published on 01 August 2000

Pilot trial of clenbuterol in spinal and bulbar muscular atrophy

scientific article published on 3 May 2013

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

scientific article published on March 2017

Post-transcriptional regulation of neuro-oncological ventral antigen 1 by the neuronal RNA-binding proteins ELAV

scientific article published on 24 January 2008

Postzygotic instability of the myotonic dystrophy p[AGC]n repeat supported by larger expansions in muscle and reduced amplifications in sperm

scientific article published on 01 June 1995

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

scientific article

Production of monocyte chemoattractant protein-1 in amyotrophic lateral sclerosis

scientific article published on 01 October 2005

Randomized double-blind placebo-controlled trial of acetyl-L-carnitine for ALS.

scientific article published on 19 February 2013

Ras p21 protein promotes survival and differentiation of human embryonic neural crest-derived cells

scientific article published on 01 August 1996

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

scientific journal article

Repeated courses of granulocyte colony-stimulating factor in amyotrophic lateral sclerosis: Clinical and biological results from a prospective multicenter study

scientific article published on 01 February 2011

Report from the Italian Ministerial Committee regarding the diagnosis, care and assistance of patients with ALS.

scientific article

Response to the commentary "The effect of C9orf72 intermediate repeat expansions in neurodegenerative and autoimmune diseases" by Biasiotto G and Zanella I.

scientific article published on 14 October 2018

Resting state functional connectivity alterations in primary lateral sclerosis

scientific article

Rising evidence for neurological involvement in COVID-19 pandemic

scientific article published on 12 May 2020

Scientific and clinic highlights from the 15th International Symposium on MND.

scientific article published in September 2005

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

scientific article published on 11 October 2012

Standards of palliative care for patients with amyotrophic lateral sclerosis: results of a European survey

scientific article published on 01 September 2001

Stem cell therapy for neurodegenerative diseases: the issue of transdifferentiation.

scientific article published on February 2004

Stem cell transplantation in multiple sclerosis: safety and ethics.

scientific article published on 9 July 2007

Stem therapy for ALS: hope and reality.

scientific article

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations

scientific article published on 01 May 2001

Surgical lesions, parkinsonism, and brain graft operations

scientific article published on 01 August 1988

TDP-43 and FUS RNA-binding proteins bind distinct sets of cytoplasmic messenger RNAs and differently regulate their post-transcriptional fate in motoneuron-like cells.

scientific article

TDP-43 is recruited to stress granules in conditions of oxidative insult.

scientific article

TMEM106B Acts as a Modifier of Cognitive and Motor Functions in Amyotrophic Lateral Sclerosis

scientific article published in 2022

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

scientific article

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

scientific article

The effect of SMN gene dosage on ALS risk and disease severity

scientific article published on 02 January 2021

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

scientific article

The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.

scientific article

The use of P300‐based BCIs in amyotrophic lateral sclerosis: from augmentative and alternative communication to cognitive assessment ⬇️

scientific article published on July 1, 2012

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome

scientific article

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 8 November 2012

VPS54 genetic analysis in ALS Italian cohort

article

Vascular and parenchymal lesions along with enhanced neurogenesis characterize the brain of asymptomatic stroke-prone spontaneous hypertensive rats

scientific article published in August 2013

Wake-up stroke and TIA due to paradoxical embolism during long obstructive sleep apnoeas: a cross-sectional study.

scientific article published on 16 October 2012

Weight loss, dysphagia and supplement intake in patients with amyotrophic lateral sclerosis (ALS): impact on quality of life and therapeutic options

scientific article

cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene

scientific article

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