A. Ferraris

发表

Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36.

A. Bentivoglio, A. Albanese, N. Wood, 2001, American journal of human genetics.

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum

M. T. Pellecchia, P. Stanzione, A. Bentivoglio, 2008, Human mutation.

Park6‐linked parkinsonism occurs in several european families

A. Bentivoglio, A. Albanese, M. Breteler, 2002, Annals of neurology.

PARK6 is a common cause of familial parkinsonism

A. Bentivoglio, A. Albanese, M. Breteler, 2002, Neurological Sciences.

Nintendo Wii Fit for balance rehabilitation in patients with Parkinson's disease: A comparative study.

S. Negrini, L. Bissolotti, J. Villafañe, 2017, Journal of bodywork and movement therapies.

Koolen‐de Vries syndrome in the first adulthood patient of Southern India ancestry

P. Grammatico, L. Laino, A. Ferraris, 2020, American journal of medical genetics. Part A.

PINK1 (PARK6) and Parkinson's Disease

E. Valente, A. Ferraris, 2010 .

Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss

E. Rappaport, P. Fortina, A. Ferraris, 2002, Clinical genetics.

Alpha‐synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees

A. Albanese, A. Fasano, E. Valente, 2013, Movement disorders : official journal of the Movement Disorder Society.

R. Borgatti, E. Valente, A. Poretti, 2017, European Radiology.

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

R. Borgatti, E. Valente, A. Poretti, 2017, European Radiology.

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

A. Destée, J. Ioannidis, M. Farrer, 2011, Annals of neurology.

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onset

N W Wood, A Albanese, A. Bentivoglio, 2001, Annals of neurology.

Late onset sporadic Parkinson's disease caused by PINK1 mutations: Clinical and functional study

P. Stanzione, E. Valente, B. Dallapiccola, 2008, Movement disorders : official journal of the Movement Disorder Society.

Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex

E. Valente, A. Ferraris, 2007, The Lancet Neurology.

W. Reardon, T. Mazza, L. Micale, 2019, Clinical genetics.

The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET

J. D. de Vries-Bouwstra, R. Fischer-Betz, Matthias Schneider, 2021, Nature Reviews Rheumatology.

Ehlers-Danlos syndromes: state of the art on clinical practice guidelines

Matthias Schneider, S. Bombardieri, M. Cutolo, 2018, RMD Open.

Discordant cfDNA‐NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman

I. Bottillo, P. Grammatico, L. Laino, 2022, Prenatal diagnosis.

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

E. Bertini, E. Mercuri, E. Valente, 2013, Orphanet Journal of Rare Diseases.

Thromboprophylaxis in acute ischaemic stroke: how can we PREVAIL?

E. Valente, A. Ferraris, 2007 .

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.

N. Fleischer, I. Bottillo, P. Grammatico, 2020, European journal of medical genetics.

The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET

J. D. de Vries-Bouwstra, R. Fischer-Betz, Matthias Schneider, 2021, Nature Reviews Rheumatology.

An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET

V. Lorenzoni, Matthias Schneider, D. Taruscio, 2022, Frontiers in Medicine.

Genetic testing for paediatric neurological disorders

E. Valente, B. Dallapiccola, A. Ferraris, 2008, The Lancet Neurology.

Multiplex ligation‐dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

F. Brancati, E. Valente, B. Dallapiccola, 2007, Movement disorders : official journal of the Movement Disorder Society.

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome

M. Digilio, B. Dallapiccola, A. Bruselles, 2018, Clinical genetics.

I. Bottillo, P. Grammatico, B. Grammatico, 2022, European Journal of Human Genetics.

Restrictive dermopathy: Novel ZMPSTE24 mutation and clues for prenatal diagnosis

T. Mazza, V. Caputo, A. Pizzuti, 2019 .

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

J. Ioannidis, M. Farrer, D. Maraganore, 2011, The Lancet Neurology.

Audiological and radiological characteristics of a family with T961G mitochondrial mutation

D. Messineo, A. Ferraris, F. D'ambrosio, 2012, International journal of audiology.

Card15 Genotyping in Inflammatory Bowel Disease Patients

M. Devoto, P. Fortina, S. Surrey, 2003 .

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders

L. Micale, C. Fusco, M. Castori, 2019, Genes.

Phenotypic variability of PINK1 expression: 12 Years' clinical follow‐up of two Italian families

A. Bentivoglio, M. Bozzali, L. Serra, 2014, Movement disorders : official journal of the Movement Disorder Society.

Olfactory dysfunction in Parkinsonism caused by PINK1 mutations

M. T. Pellecchia, A. Bentivoglio, A. Albanese, 2009, Movement disorders : official journal of the Movement Disorder Society.

Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients

E. Valente, L. Bernardini, M. Severino, 2011, Orphanet journal of rare diseases.

Curricula Vitae

A. Bentivoglio, B. Dallapiccola, A. Ferraris, 1994 .

Defining the Epsilon‐Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus‐Dystonia: A Reappraisal of Genetic Testing Criteria

M. Edwards, K. Bhatia, M. Copetti, 2013, Movement disorders : official journal of the Movement Disorder Society.

Relationship between CARD15, SLC22A4/5, and DLG5 polymorphisms and early-onset inflammatory bowel diseases: an Italian multicentric study.

B. Dallapiccola, P. Lionetti, G. D. de’ Angelis, 2006, Inflammatory bowel diseases.

Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology.

Marco Seri, Roberto Ravazzolo, Alessandro Ferraris, 2002, Clinical chemistry.

Mutation screening of the DYT6/THAP1 gene in Italy

A. Bentivoglio, A. Albanese, F. Brancati, 2009, Movement disorders : official journal of the Movement Disorder Society.

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy–Walker malformation carrying a de novo 8p deletion

E. Bertini, E. Mercuri, Massimiliano Valeriani, 2011, neurogenetics.

FGF 17 , a gene involved in cerebellar development , is downregulated in a patient with Dandy – Walker malformation carrying a de novo 8 p deletion

E. Bertini, E. Mercuri, Massimiliano Valeriani, 2011 .

The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

A. Destée, D. Serie, M. Farrer, 2014, Neurobiology of Aging.

The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET.

J. D. de Vries-Bouwstra, R. Fischer-Betz, Matthias Schneider, 2022, Clinical and experimental rheumatology.

Combined test for UGT1A1 -3279T-->G and A(TA)nTAA polymorphisms best predicts Gilbert's syndrome in Italian pediatric patients.

B. Dallapiccola, V. Nobili, A. Ferraris, 2006, Genetic testing.

Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset

A. Albanese, N. Wood, E. Valente, 2001, Neurological Sciences.

Prevalence and phenotypic spectrum of PINK1 mutations in Parkinson's disease

A. Bentivoglio, E. Valente, A. Ferraris, 2009 .

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss

I. Krantz, M. Margaglione, E. Rappaport, 2002, Human mutation.

CARD15 genotyping in inflammatory bowel disease patients by multiplex pyrosequencing.

M. Devoto, P. Fortina, S. Surrey, 2003, Clinical chemistry.

Phenotypic characterisation of autosomal recessive PARK6‐linked parkinsonism in three unrelated Italian families

A. Bentivoglio, A. Albanese, E. Valente, 2001, Movement disorders : official journal of the Movement Disorder Society.

Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2?

I. Bottillo, P. Grammatico, L. Laino, 2022, Genes.

The Language of Pain in the Hypermobile Ehlers–Danlos Syndrome: Metaphors as a Key to Understanding the Experience of Pain and as a Rehabilitation Tool

M. Pasquini, F. Camerota, C. Celletti, 2023, Brain Sciences.

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility

L. Micale, B. Pasini, C. Fusco, 2023, Human Genetics.

Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts

M. Tremelling, M. Parkes, H. Drummond, 2007, Journal of Medical Genetics.

GIGYF2 variants are not associated with Parkinson's disease in Italy

A. Bentivoglio, E. Valente, B. Dallapiccola, 2009, Movement disorders : official journal of the Movement Disorder Society.

The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers

N. Fleischer, P. Grammatico, A. Ferraris, 2019, Journal of Human Genetics.

Ehlers-Danlos syndromes: state of the art on clinical practice guidelines

Matthias Schneider, S. Bombardieri, M. Cutolo, 2018, RMD Open.

Microarray analysis identifies a common set of cellular genes modulated by different HCV replicon clones

B. Dallapiccola, R. Bruni, A. Costantino, 2008, BMC Genomics.

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

J. Ioannidis, M. Farrer, D. Maraganore, 2011, The Lancet Neurology.

Linkage of ulcerative colitis to the pericentromeric region of chromosome 16 in Italian inflammatory bowel disease families is independent of the presence of common CARD15 mutations

E. Rappaport, M. Devoto, P. Fortina, 2003, Journal of Medical Genetics.

Analysis of CARD15 gene variants in Italian pediatric patients with inflammatory bowel diseases.

P. Fortina, B. Dallapiccola, A. Ferraris, 2005, The Journal of pediatrics.