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A. Chiò, R. Mutani, A. Calvo, 2004, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

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

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

A. Brusco, G. Ferrero, E. Giorgio, 2014, Molecular Cytogenetics.

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.

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

Janel O. Johnson, M. Nalls, A. Chiò, 2014, Brain : a journal of neurology.

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

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

The rare G93D mutation causes a slowly progressing lower motor neuron disease

A. Chiò, A. Calvo, C. Gellera, 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

A de novo nonsense mutation of the FUS gene in an apparently familial ALS case

A. Chiò, B. Traynor, A. Calvo, 2014 .

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

P. Tacconi, F. Marrosu, A. Chiò, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

A. Chiò, G. Mora, B. Traynor, 2009, Neurobiology of Aging.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2010, Neuron.

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

A. Chiò, B. Traynor, A. Calvo, 2011, Neurobiology of Aging.

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

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An ALS case with a novel D90N-SOD1 heterozygous missense mutation

A. Chiò, A. Calvo, C. Moglia, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

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

F. Marrosu, A. Chiò, B. Traynor, 2012, Journal of Neurology.

Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes

G. Mazzucco, G. Battaglia, S. Baldovino, 2013, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy

C. Doriguzzi, T. Mongini, G. Restagno, 1993, Journal of Neurology.

Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome

G. Piccoli, F. Porpiglia, G. Restagno, 2012, BMC Nephrology.

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

X. Estivill, N. López-Bigas, P. Gasparini, 2000 .

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

X. Estivill, N. López-Bigas, P. Gasparini, 1999, Human Genetics.

A large deletion at the 3' end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosa.

S. Bhattacharya, G. Restagno, A. Carbonara, 1993, Human molecular genetics.

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

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C. Doriguzzi, T. Mongini, G. Restagno, 1994, Neurology.

Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy

C. Doriguzzi, T. Mongini, G. Restagno, 1992, Journal of the Neurological Sciences.

Inferring biallelism of two FSH receptor mutations associated with spontaneous ovarian hyperstimulation syndrome by evaluating FSH, LH and HCG cross-activity.

G. Restagno, C. Benedetto, A. Revelli, 2019, Reproductive biomedicine online.

Low renin-angiotensin system activity gene polymorphism and dysplasia associated with posterior urethral valves.

L. Peruzzi, R. Coppo, A. Amore, 2005, The Journal of urology.

FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women

G. Restagno, A. Revelli, C. Mari, 2011, Journal of Assisted Reproduction and Genetics.

Carrier detection of duchenne muscular dystrophy through analysis of dna from deciduous teeth of a dead affected child

C. Doriguzzi, T. Mongini, G. Restagno, 1995, Prenatal diagnosis.

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene.

P. Pignatti, S. Rossetti, G. Restagno, 1996, American journal of medical genetics.

A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment

A. Chiò, A. Calvo, M. Valentini, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Mutations and Polymorphisms of the FSH Receptor (FSHR) Gene: Clinical Implications in Female Fecundity and Molecular Biology of FSHR Protein and Gene

M. Massobrio, G. Restagno, A. Revelli, 2008, Obstetrical & gynecological survey.

CNVs analysis in a cohort of isolated and syndromic DD / ID reveals novel genomic disorders , position effects and candidate disease genes

Naretto, J. Buxbaum, M. Spielmann, 2022 .

Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.

M. Morfini, G. Restagno, R. de Biasi, 1990, Blood.

CARRIER DETECTION AND GENETIC COUNSELLING IN HEMOPHILIA USING DNA PROBES

G. Restagno, A. Carbonara, L. Perugini, 1987 .

Ovarian hyper-stimulation syndrome after spontaneous conception

M. Massobrio, G. Restagno, A. Revelli, 2009, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

Fetal DNA in maternal plasma: a noninvasive tool for prenatal diagnosis of beta-thalassemia

M. Ferrari, F. Damin, S. Galbiati, 2012, Expert opinion on biological therapy.

Systematic use of dystrophin testing in muscle biopsies: results in 201 cases

C. Doriguzzi, T. Mongini, G. Restagno, 1997, European journal of clinical investigation.

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

X. Estivill, J. Kere, J. Bertranpetit, 1994, Nature Genetics.

A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case

A. Chiò, B. Traynor, A. Calvo, 2014, Neurobiology of Aging.

Autosomal dominant polycystic kidney disease: A linkage evaluation of heterogeneity in Italy

B. Dallapiccola, G. Novelli, E. Bellone, 1990 .

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

R. Ophoff, A. Goris, S. Sawcer, 2014, Human molecular genetics.

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

J. Buxbaum, M. Spielmann, P. Provero, 2017, Clinical genetics.

Array-CGH analysis in fetuses with major congenital malformations reveals that 24 % of cases have pathogenic deletions / duplications

B. Pasini, E. Gregorio, A. Brusco, 2016 .

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

B. Pasini, A. Brusco, G. Ferrero, 2015, Cytogenetic and Genome Research.

Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP‐43 subcellular distribution

A. Chiò, A. Calvo, M. Mostert, 2017, Neuropathology and applied neurobiology.

Homozygosity analysis in amyotrophic lateral sclerosis

M. Nalls, T. Peuralinna, J. Hardy, 2013, European Journal of Human Genetics.

FUS mutations in sporadic amyotrophic lateral sclerosis

D. Stephan, M. Cookson, T. Dunckley, 2011, Neurobiology of Aging.

A de novo missense mutation of the FUS gene in a “true” sporadic ALS case

A. Chiò, B. Traynor, A. Calvo, 2011, Neurobiology of Aging.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Patrizia Sola, Joanne Wuu, Michael Benatar, 2011, Neuron.

The dygynic origin of a triploid fetus from an IVF pregnancy.

G. Restagno, R. Arisio, A. Carbonara, 1988, Human reproduction.

Structure of the human hemopexin gene and evidence for intron-mediated evolution

L. Silengo, F. Altruda, G. Restagno, 2005, Journal of Molecular Evolution.

A genome-wide association study of myasthenia gravis.

Michael Benatar, Sonja W. Scholz, Adriano Chiò, 2015, JAMA neurology.

Mechanism of origin in two cases of chimerism

M. Repici, S. Cristina, R. Lala, 2011 .

Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients

Janel O. Johnson, D. Hernandez, M. Nalls, 2010, Proceedings of the National Academy of Sciences.

Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.

G. Ferrero, S. Stenirri, L. Cremonesi, 2007, Clinical chemistry.

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

Janel O. Johnson, D. Hernandez, M. Nalls, 2011, Archives of neurology.

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.

J. Beckmann, J. Burgunder, J. Loiselet, 1997, American journal of human genetics.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, M. Nalls, 2012, The Lancet Neurology.

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Lorne Zinman, Adriano Chiò, Richard W. Orrell, 2014, Nature Neuroscience.

Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families

G. Restagno, A. Carbonara, M. Ferrone, 1992, Clinical genetics.

The chromosome 9 ALS and FTD locus is probably derived from a single founder

M. Nalls, T. Peuralinna, J. Hardy, 2012, Neurobiology of Aging.

Absence of dystrophin in two patients with Becker type Xp21 muscular dystrophy

C. Doriguzzi, T. Mongini, G. Restagno, 1992, Neuroscience Letters.

Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome

G. Rizzoni, E. Stramignoni, A. Renieri, 1993, Human Genetics.

A case report of AA amyloidosis associated with familial periodic fever syndrome diagnosed after kidney transplantation: never say never.

L. Biancone, G. Restagno, A. Ranghino, 2013, Transplantation proceedings.

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

D. Rujescu, H. Hakonarson, U. Lindenberger, 2015, Alzheimer's & Dementia.

The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients

A. Chiò, B. Traynor, F. Nobili, 2014, European Journal of Nuclear Medicine and Molecular Imaging.

Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of β-thalassemia

M. Ferrari, S. Galbiati, L. Cremonesi, 2008, Haematologica.

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

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

Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report

M. Ferrari, S. Galbiati, S. Stenirri, 2014, Clinical chemistry and laboratory medicine.

Different Approaches for Noninvasive Prenatal Diagnosis of Genetic Diseases Based on PNA‐Mediated Enriched PCR

M. Ferrari, M. Chiari, F. Damin, 2006, Annals of the New York Academy of Sciences.

Feasibility Study for a Microchip‐Based Approach for Noninvasive Prenatal Diagnosis of Genetic Diseases

M. Ferrari, S. Galbiati, A. Piga, 2004, Annals of the New York Academy of Sciences.

No evidence of fetal DNA persistence in maternal plasma after pregnancy

M. Ferrari, S. Galbiati, L. Cremonesi, 2003, Human Genetics.

Pattern dystrophies of the retinal pigment epithelium.

G. Restagno, A. Carbonara, C. Daniele, 2009, Acta ophthalmologica Scandinavica.

Analysis of the Rhodopsin and Peripherin/Rds Gene in Two Families with Pattern Dystrophy of the Retinal Pigment Epithelium

G. Restagno, A. Carbonara, A. Nardacchione, 1996, European journal of ophthalmology.

Genome-wide analysis of the heritability of amyotrophic lateral sclerosis.

M. Nalls, A. Singleton, L. Ferrucci, 2014, JAMA neurology.

The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation

A. Chiò, R. Mutani, A. Calvo, 2005 .

The primary structure of human hemopexin deduced from cDNA sequence: evidence for internal, repeating homology.

P. Argos, R. Cortese, L. Silengo, 1985, Nucleic acids research.

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

Sonja W. Scholz, Janel O. Johnson, A. Chiò, 2012, Neurobiology of Aging.

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.

Mutational analysis of the VCP gene in Parkinson's disease

A. Singleton, A. Chiò, B. Traynor, 2012, Neurobiology of Aging.

Fetal DNA in maternal plasma in twin pregnancies.

S. Calza, M. Ferrari, S. Galbiati, 2003, Clinical chemistry.

Fetal DNA detection in maternal plasma throughout gestation

S. Calza, M. Ferrari, S. Galbiati, 2005, Human Genetics.

Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome.

G. Restagno, A. Guala, L. Genitori, 1998, American journal of medical genetics.

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study

L. Ferrucci, A. Chiò, G. Mora, 2013, Neurobiology of Aging.

ATXN2 polyQ intermediate repeats are a modifier of ALS survival

A. Chiò, G. Mora, A. Calvo, 2015, Neurology.

HFE p.H63D polymorphism does not influence ALS phenotype and survival

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

Prevalence of SOD1 mutations in the Italian ALS population

A. Chiò, B. Traynor, R. Mutani, 2008, Neurology.

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.

Lab-on-a-chip: emerging analytical platforms for immune-mediated diseases.

Daniela Berardi, Barbara Spagnolo, Gabriella Restagno, 2013, Autoimmunity reviews.

Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene

Adriano Chiò, Gabriella Restagno, Peter M Andersen, 2004, Annals of neurology.

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

P. Tacconi, F. Marrosu, A. Chiò, 2013, neurogenetics.

Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis

E. Arbustini, E. Rappaport, P. Fortina, 1999, Journal of Medical Screening.

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

Hannah A. Pliner, A. Mulas, F. Marrosu, 2016, Neurobiology of Aging.

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

Ewout J. N. Groen, D. Rujescu, S. Corti, 2014, Neurobiology of Aging.

Amyotrophic lateral sclerosis onset after prolonged treatment with a VEGF receptors inhibitor

A. Chiò, A. Calvo, C. Moglia, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Prenatal diagnosis of limb-girdle muscular dystrophy type 2A

J. Beckmann, I. Richard, G. Restagno, 1996, Neuromuscular Disorders.

AGenome-Wide Association Study ofMyasthenia Gravis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2015 .

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, M. Nalls, 2012, The Lancet Neurology.

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.

J. Mehta, B. Pasini, A. Brusco, 2017, European journal of medical genetics.

A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course

A. Chiò, A. Calvo, C. Moglia, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, G. Schellenberg, 2012, The Lancet Neurology.

Cognitive Reserve in ALS with Comorbid Frontotemporal Dementia (FTD): A Population-Based Study (P5.081)

A. Chiò, L. Lopiano, A. Calvo, 2014 .

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2010, Neuron.

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

M. Nalls, F. Marrosu, A. Chiò, 2015, Neurobiology of Aging.

Genetic architecture of ALS in Sardinia

Hannah A. Pliner, M. Nalls, F. Marrosu, 2014, Neurobiology of Aging.

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

R. Ophoff, A. Goris, S. Sawcer, 2014, Human molecular genetics.

Severe and long‐lasting disruption of T‐cell receptor diversity in human myeloma after high‐dose chemotherapy and autologous peripheral blood progenitor cell infusion

M. Boccadoro, A. Pileri, J. Even, 2001, British journal of haematology.

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

A. Chiò, B. Traynor, A. Calvo, 2011, Neurobiology of Aging.

A genome-wide association study of myasthenia gravis.

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2015, JAMA neurology.