S. Penco

E. Holtzman, D. Dinour, G. Colussi, 2014, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A close look at a small group of patients helped devise a new approach to managing patients with this rare syndrome

E. Piozzi, G. Montesano, S. Penco, 2022 .

TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation

L. Pozzi, F. Agosta, G. Comi, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Acquired lecithin:cholesterol acyltransferase deficiency as a major factor in lowering plasma HDL levels in chronic kidney disease

G. Franceschini, F. Veglia, L. Gesualdo, 2015, Journal of internal medicine.

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

Sonja W. Scholz, Hannah A. Pliner, John D. Eicher, 2019, Annals of neurology.

Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia

G. Franceschini, E. Boer, G. Boscutti, 2012, Journal of clinical lipidology.

Granulocyte‐macrophage colony‐stimulating factor activity in cerebrospinal fluid

M. Abbruzzese, G. Mancardi, G. Bianchi‐Scarrǎ, 1999, Acta neurologica Scandinavica.

Lactoferrin as a Possible Transcriptional Regulator

R. Ravazzolo, S. Pastorino, G. Bianchi‐Scarrǎ, 1997 .

Lactoferrin Down-modulates the Activity of the Granulocyte Macrophage Colony-stimulating Factor Promoter in Interleukin-1-stimulated Cells (*)

S. Pastorino, S. Penco, C. Garrě, 1995, The Journal of Biological Chemistry.

Collagen XIX Alpha 1 Improves Prognosis in Amyotrophic Lateral Sclerosis

E. Pegoraro, J. M. Cano, Miguel Ángel Martín, 2019, Aging and disease.

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

Janel O. Johnson, M. Nalls, A. Chiò, 2016, Neurobiology of Aging.

Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study.

M. Panteghini, A. Mosca, S. Penco, 2003, Pharmacogenetics.

Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea‐acanthocytosis

K. Kotschet, D. Babovic‐Vuksanovic, K. Wakabayashi, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.

E. Capoluongo, S. Penco, C. Zuppi, 2012, Metabolism: clinical and experimental.

Does Down's syndrome support the homocysteine theory of atherogenesis? Experience in elderly subjects with trisomy 21.

E. Porcellini, F. Licastro, D. Lio, 2006, Archives of gerontology and geriatrics.

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

F. Marrosu, A. Chiò, G. Mora, 2012, Neurobiology of Aging.

Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis

A. Quattrini, M. Corbo, F. Avemaria, 2015, European journal of neurology.

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

Janel O. Johnson, M. Nalls, A. Chiò, 2015, Neurobiology of Aging.

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

A. Chiò, G. Mora, A. Calvo, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Blood trace metals in a sporadic amyotrophic lateral sclerosis geographical cluster

C. Del Bo’, E. Gianazza, S. Penco, 2017, BioMetals.

Increase in DNA methylation in patients with amyotrophic lateral sclerosis carriers of not fully penetrant SOD1 mutations

F. Coppedè, L. Migliore, S. Penco, 2018, Amyotrophic lateral sclerosis & frontotemporal degeneration.

HLA-DRB1*15 association with multiple sclerosis is confirmed in a multigenerational Italian family.

L. La Mantia, S. Penco, V. Mantero, 2017, Functional neurology.

Clinical evaluation and molecular screening of a large consecutive series of albino patients

E. Piozzi, A. Rossetti, S. Penco, 2016, Journal of Human Genetics.

Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression

M. Corbo, F. Avemaria, S. Penco, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease

G. Lauria, A. Salmaggi, A. Rigamonti, 2017, Journal of Genetic Counseling.

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

G. Comi, M. Mancuso, C. Cereda, 2009, Journal of Medical Genetics.

Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion

A. Fogli, P. Simi, M. Corbo, 2014, Case reports in neurological medicine.

De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations

V. Capra, F. Avemaria, S. Penco, 2012, Journal of Molecular Neuroscience.

An Italian dominant FALS Leu144Phe SOD1 mutation: genotype‐phenotype correlation

A. Amoroso, C. Caponnetto, S. Penco, 2003, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

Phenotypic Heterogeneity in a SOD1 G93D Italian ALS Family: An Example of Human Model to Study a Complex Disease

M. Corbo, F. Avemaria, S. Penco, 2011, Journal of Molecular Neuroscience.

Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject

M. Corbo, F. Avemaria, S. Penco, 2012, Neurobiology of Aging.

Serum metal evaluation in a small cohort of Amyotrophic Lateral Sclerosis patients reveals high levels of thiophylic species

E. Gianazza, S. Penco, C. Lunetta, 2016 .

CHCH10 mutations in an Italian cohort of familial and sporadic ALS patients

Marcella, Lunetta, Salvi, 2015 .

Amyotrophic lateral sclerosis in pregnancy is associated with a vascular endothelial growth factor promoter genotype

G. Meola, M. Corbo, V. Sansone, 2014, European journal of neurology.

Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study

G. Paolazzi, G. Valesini, F. Iacoponi, 2012, Clinical Research in Cardiology.

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study.

C. Carcassi, M. Giagheddu, G. Siciliano, 2005, Journal of neurology.

Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population

F. Giannini, L. Mazzini, S. Battistini, 2007, Journal of the Neurological Sciences.

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

J. Powell, M. Lupton, A. Al-Chalabi, 2011, Neurobiology of Aging.

Identification of a novel NOTCH3 mutation in an Italian family affected by a mild form of CADASIL

S. Penco, E. Ferrante, L. Mosca, 2019, Neurological Sciences.

Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features

P. Barone, C. Vitale, R. Erro, 2015, Neurobiology of Aging.

IL-6 Protein Expression is Increased in Fast Glycolytic Muscle Fibers Over Time in the SOD1G93A Mouse model.

R. Osta, P. Zaragoza, S. Penco, 2021 .

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas

L. Tassi, S. Benedetti, O. Mecarelli, 2015, Journal of Molecular Neuroscience.

Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review

L. Chessa, S. Penco, F. Grippaudo, 2013, Journal of Molecular Neuroscience.

Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation.

L. Tassi, P. Brunori, R. Rocchi, 2007, Archives of neurology.

An upstream negative regulatory element in human granulocyte‐macrophage colony‐stimulating factor promoter is recognised by AP1 family members

R. Ravazzolo, G. Bianchi‐Scarrǎ, S. Penco, 1998, FEBS letters.

NOTCH3 gene mutations in subjects clinically suspected of CADASIL

R. Sterzi, E. Scarpini, G. Mandrile, 2011, Journal of the Neurological Sciences.

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.

M. Clementi, M. Venturini, P. Calzavara-Pinton, 2011, Journal of dermatological science.

RAPID REPORT ZPLD1 GENE IS DISRUPTED IN A PATIENT WITH BALANCED TRANSLOCATION THAT EXHIBITS CEREBRAL CAVERNOUS MALFORMATIONS

A. Ciccodicola, F. Gianfrancesco, T. Esposito, 2008 .

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

V. Rimoldi, E. Piozzi, R. Asselta, 2014, Gene.

A SOD1 gene mutation in a patient with slowly progressing familial ALS

M. Bolognesi, A. Schenone, M. Abbruzzese, 1999, Neurology.

Cavernous malformation of the optic nerve mimicking optic neuritis.

S. Battistini, C. Venturi, R. Franceschini, 2010, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Intramolecular participation of the sulfinyl group in the hydrolysis of the ester function of an α-phosphoryl sulfoxide

S. Thea, S. Penco, G. Cevasco, 1993 .

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

R. Weinreb, H. Sticht, A. Reis, 2016, Orphanet Journal of Rare Diseases.

Chemical and biological characterization of 4'-iodo-4'-deoxydoxorubicin.

S. Penco, F. Arcamone, A. Casazza, 1987, Cancer research.

Detection of the first OCA6 Italian patient in a large cohort of albino subjects.

E. Piozzi, L. Zelante, S. Penco, 2016, Journal of dermatological science.

Bilateral carcinoma in situ of the testis and cystic fibrosis transmembrane conductance regulator (CFTR) mutation in an azoospermic patient with late-onset 21β-hydroxylase deficiency

F. Minuto, M. Giusti, S. Penco, 2004, Journal of endocrinological investigation.

Molecular analysis of PDGFRA and PDGFRB genes by rapid single-strand conformation polymorphism (SSCP) in patients with core-binding factor leukaemias with KIT or FLT3 mutation.

F. Ferrara, A. Cuneo, G. Pizzolo, 2008, Anticancer research.

Erratum to: Is the SHRPS Strain a Suitable Model of Spontaneous CADASIL?

E. Tremoli, M. Abbate, S. Penco, 2012, Journal of Molecular Neuroscience.

Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort

L. Pozzi, M. Filippi, F. Agosta, 2020, International journal of molecular sciences.

PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

Andrea Mosca, Silvana Penco, Stefano Parmigiani, 2014, PloS one.

Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management

L. Tassi, G. Tredici, S. Bacigaluppi, 2013, Clinical Genetics.

Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach.

L. Tassi, S. Penco, E. Bianchi, 2009, Journal of neurosurgery.

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

F. Gianfrancesco, T. Esposito, C. Liquori, 2008, Neurogenetics.

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

G. Comi, S. Corti, V. Moskvina, 2014, Human molecular genetics.

A genome-wide association meta-analysis identifies a novel locus at 17 q 11 . 2 associated with sporadic amyotrophic lateral sclerosis

Aleksey, Davide, Moskvina, 2014 .

with sporadic amyotrophic lateral sclerosis

V. Moskvina, A. Shatunov, S. Sorbi, 2013 .

Lack of association of PON polymorphisms with sporadic ALS in an Italian population

P. Milani, F. Giannini, M. Corbo, 2011, Neurobiology of Aging.

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Denis C. Bauer, Annelot M. Dekker, Ashley R. Jones, 2017, Nature Communications.

Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls

A. Folsom, M. den Heijer, M. Cushman, 2013, European Journal of Epidemiology.

Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma.

A. Ekici, U. Schlötzer-Schrehardt, E. Piozzi, 2015, Gene.

Severe high-density lipoprotein deficiency associated with autoantibodies against lecithin:cholesterol acyltransferase in non-Hodgkin lymphoma.

G. Franceschini, C. Sirtori, E. Gianazza, 2012, Archives of internal medicine.

Paraoxonase 1 L55M, Q192R and paraoxonase 2 S311C alleles in atherothrombosis

R. De Maria, O. Parodi, J. Campolo, 2012, Molecular and Cellular Biochemistry.

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites

V. Rimoldi, E. Piozzi, R. Asselta, 2015, Journal of Human Genetics.

SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.

E. Piozzi, F. Benedicenti, F. Stanzial, 2014, Gene.

Combined evaluation of genotype and phenotype of thiopurine S-methyltransferase (TPMT) in the clinical management of patients in chronic therapy with azathioprine

C. Perno, F. Mattioli, F. Scaglione, 2019, Drug metabolism and personalized therapy.

Methylenetetrahydrofolate reductase (MTHFR) and breast cancer risk: a nested-case-control study and a pooled meta-analysis

B. Bonanni, G. D'aiuto, Alberto Costa, 2007, Breast Cancer Research and Treatment.

Methionine challenge paradoxically induces a greater activation of the antioxidant defence in subjects with hyper- vs. normohomocysteinemia

R. De Maria, O. Parodi, J. Campolo, 2006, Free radical research.

Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review

L. Chessa, S. Penco, F. Grippaudo, 2013, Journal of Molecular Neuroscience.

Familial cerebral cavernous malformation: report of a further Italian family

L. Pantoni, D. Inzitari, A. Poggesi, 2009, Neurological Sciences.

Glutamate-cysteine ligase polymorphism, hypertension, and male sex are associated with cardiovascular events. Biochemical and genetic characterization of Italian subpopulation.

L. Colombo, O. Parodi, J. Campolo, 2007, American heart journal.

A CGH array procedure to detect PAX6 gene structural defects.

G. Damante, C. Puppin, S. Penco, 2017, Molecular and cellular probes.

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

E. Mancini, S. Andrulli, L. Garavelli, 2017, Kidney international.

A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of κ light chains

Masaaki Nakamura, Y. Ando, G. Colussi, 2007, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

G. Comi, S. Corti, E. Capitani, 2016, Stroke.

Genetic Variations Within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation

P. Brunori, S. Buscone, S. Battistini, 2010, Journal of Molecular Neuroscience.

De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations

V. Capra, F. Avemaria, S. Penco, 2012, Journal of Molecular Neuroscience.

Lactoferrin expression in human breast cancer.

G. Bevilacqua, G. Cipollini, M. Caligo, 1999, Cancer biochemistry biophysics.

Nicolaides–Baraitser syndrome: defining a phenotype

M. Dotti, A. Renieri, F. Mari, 2016, Journal of Neurology.

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

F. Marrosu, A. Chiò, G. Mora, 2012, Brain : a journal of neurology.