Publications by authors named "Gabriella Restagno"

77Publications

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

Reprod Biomed Online 2019 May 23;38(5):816-824. Epub 2018 Dec 23.

Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; Centre for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

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May 2019

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

Eur J Med Genet 2017 Apr 31;60(4):224-227. Epub 2017 Jan 31.

Città Della Salute e Della Scienza University Hospital, Medical Genetics Unit, Turin, 10126 Italy; University of Torino, Department of Medical Sciences, Turin, 10126, Italy. Electronic address:

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April 2017

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

Neurobiol Aging 2015 Oct 25;36(10):2906.e1-5. Epub 2015 Jun 25.

ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Neurology II, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy. Electronic address:

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October 2015

ATXN2 polyQ intermediate repeats are a modifier of ALS survival.

Neurology 2015 Jan 19;84(3):251-8. Epub 2014 Dec 19.

From the ALS Center (A. Chiò, A. Calvo, C.M., A. Canosa, M. Brunetti, M. Barberis), "Rita Levi Montalcini" Department of Neuroscience, University of Torino; the Laboratory of Molecular Genetics (M. Brunetti, M. Barberis, G.R.), Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino (A. Chiò, A. Calvo); the Neuroscience Institute of Torino (NIT) (A. Chiò, A. Calvo); the Departments of Neurosciences, Ophthalmology, Genetics, Rehabilitation, and Child Health (A. Canosa), University of Genoa; the Neurological Institute (A. Conte, G.B., M.S.) and the Institute of Medical Genetics (G. Marangi, A.M., S.L., M.Z.), Catholic University of the Sacred Heart, Rome; the Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD) (M. Bagarotti, L.C., S.D.), and the Department of Neurology (E.B., L.M.), "Amedeo Avogadro" University of Eastern Piedmont, Novara; the Salvatore Maugeri Foundation (A.B.), IRCSS, Pavia; the Scientific Institute of Milan (G. Mora); and Azienda Ospedaliera Universitaria Maggiore della Carità (E.B., L.M.), Novara, Italy.

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January 2015

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

Amyotroph Lateral Scler Frontotemporal Degener 2015 Mar 22;16(1-2):129-30. Epub 2014 Oct 22.

ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Torino , Turin , Italy.

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March 2015

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

Amyotroph Lateral Scler Frontotemporal Degener 2015 Mar 9;16(1-2):127-8. Epub 2014 Oct 9.

ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Torino , Turin.

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March 2015

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

Brain 2014 Dec 26;137(Pt 12):e311. Epub 2014 Sep 26.

1 Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA

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December 2014

NADPH oxidase (NOX2) activity is a modifier of survival in ALS.

J Neurol 2014 Nov 2;261(11):2178-83. Epub 2014 Sep 2.

"Rita Levi Montalcini" Department of Neuroscience, ALS Centre, University of Torino, Via Cherasco 15, 10126, Turin, Italy,

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November 2014

Genetic architecture of ALS in Sardinia.

Neurobiol Aging 2014 Dec 18;35(12):2882.e7-2882.e12. Epub 2014 Jul 18.

Amyotrophic Lateral Sclerosis Center, "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy; Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation and Child Health, University of Genoa, Genoa, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy. Electronic address:

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December 2014

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

JAMA Neurol 2014 Sep;71(9):1123-34

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.

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September 2014

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

J Neurol Neurosurg Psychiatry 2014 Dec 25;85(12):1437-9. Epub 2014 Apr 25.

'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Turin, Turin, Italy Neuroscience Institute of Turin, Turin, Italy.

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December 2014

Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy.

J Neurol Neurosurg Psychiatry 2015 Feb 25;86(2):168-73. Epub 2014 Apr 25.

'Rita Levi Montalcini' Department of Neuroscience, the ALS Center, University of Torino, Italy The Neuroscience Institute of Torino (NIT) Department of Neurology, Azienda Ospedaliera Città della Salute e della Scienza, Torino, Italy.

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February 2015

De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.

Neurobiol Aging 2014 Jun 27;35(6):1513.e7-11. Epub 2013 Dec 27.

"Rita Levi Montalcini" Department of Neuroscience, ALS Center, University of Torino, Torino, Italy; Neuroscience Institute of Torino, Torino, Italy. Electronic address:

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June 2014

Genetic counselling in ALS: facts, uncertainties and clinical suggestions.

J Neurol Neurosurg Psychiatry 2014 May 6;85(5):478-85. Epub 2013 Jul 6.

Department of Neuroscience, ALS Center, 'Rita Levi Montalcini', University of Torino, Torino, and Azienda Ospedaliera Città della Salute e della Scienza, , Torino, Italy.

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May 2014

Homozygosity analysis in amyotrophic lateral sclerosis.

Eur J Hum Genet 2013 Dec 24;21(12):1429-35. Epub 2013 Apr 24.

Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, and Department of Clinical Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.

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December 2013

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

Amyloid 2013 Jun 6;20(2):122-6. Epub 2013 Mar 6.

CMID, Center of Research on Immunopathology and Rare Diseases, Ospedale S. Giovanni Bosco and University of Torino, Torino, Italy.

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June 2013

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

Autoimmun Rev 2013 Jun 6;12(8):814-20. Epub 2012 Dec 6.

Department of Medicine and Experimental Oncology, Section of Clinical Pathology, University of Turin, Turin, Italy.

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June 2013

Extensive genetics of ALS: a population-based study in Italy.

Neurology 2012 Nov 24;79(19):1983-9. Epub 2012 Oct 24.

ALS Center, Department of Neurosciences, University of Torino and AOU San Giovanni Battista of Torino, Torino, Italy.

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November 2012

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

Neurobiol Aging 2013 Jan 22;34(1):357.e1-5. Epub 2012 Aug 22.

ALS Center, Department of Neuroscience, University of Torino, and Azienda Ospedale Università San Giovanni Battista, Torino, Italy.

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January 2013

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

Neurobiol Aging 2012 Sep 8;33(9):2231.e1-2231.e6. Epub 2012 May 8.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.

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September 2012

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

Expert Opin Biol Ther 2012 Jun 16;12 Suppl 1:S181-7. Epub 2012 Apr 16.

Center for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute, Genomic Unit for Diagnosis of Human Pathologies, Via Olgettina 60, 20132 Milan, Italy.

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June 2012

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Neuron 2011 Oct 21;72(2):257-68. Epub 2011 Sep 21.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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October 2011

Mutational analysis of the VCP gene in Parkinson's disease.

Neurobiol Aging 2012 Jan 13;33(1):209.e1-2. Epub 2011 Sep 13.

Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, MD, USA.

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January 2012

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

J Assist Reprod Genet 2011 Sep 27;28(10):925-30. Epub 2011 Jul 27.

Reproductive Medicine and IVF Unit, Department of Gynaecological and Obstetrical Sciences, University of Turin, OIRM-S. Anna Hospital, Torino, Italy.

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September 2011

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.

Neurobiol Aging 2011 Mar 3;32(3):553.e23-6. Epub 2010 Jul 3.

ALS Center, Department of Neuroscience, University of Torino, Torino, Italy.

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March 2011

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

Proc Natl Acad Sci U S A 2010 Jul 21;107(27):12335-8. Epub 2010 Jun 21.

Molecular Genetics Section, and Cell Biology and Gene Expression Unit, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.

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July 2010

Mutations and polymorphisms of the FSH receptor (FSHR) gene: clinical implications in female fecundity and molecular biology of FSHR protein and gene.

Obstet Gynecol Surv 2008 Dec;63(12):785-95

Reproductive Medicine and IVF Unit, Department of Gynaecological and Obstetrical Sciences, University of Turin, S. Anna Hospital, Torino, Italy.

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December 2008

Fetal DNA detection in maternal plasma throughout gestation.

Hum Genet 2005 Jul 20;117(2-3):243-8. Epub 2005 May 20.

Unit of Genomics for Diagnosis of Human Pathologies, IRCCS H. San Raffaele, Via Olgettina 58, 20132 Milan, Italy.

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July 2005

Fetal DNA in maternal plasma in twin pregnancies.

Clin Chem 2003 Sep;49(9):1526-8

Department of Obstetrics and Gynecology, IRCCS, H. San Raffaele, Via Olgettina 60, 20132 Milan, Italy.

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September 2003