Paola Carrera

Paola Carrera

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Paola Carrera

Paola Carrera

Publications by authors named "Paola Carrera"

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Concurrence of NMOSD and ALS in a patient with hexanucleotide repeat expansions of C9orf72.

Amyotroph Lateral Scler Frontotemporal Degener 2019 Aug 22;20(5-6):449-452. Epub 2019 Apr 22.

a Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute , Vita-Salute San Raffaele University , Milan , Italy.

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https://www.tandfonline.com/doi/full/10.1080/21678421.2019.1
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http://dx.doi.org/10.1080/21678421.2019.1604761DOI Listing
August 2019

ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria.

Hum Reprod 2019 Jun;34(6):1155-1164

Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.

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http://dx.doi.org/10.1093/humrep/dez048DOI Listing
June 2019

Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation.

J Allergy Clin Immunol 2018 09 11;142(3):928-941.e8. Epub 2017 Dec 11.

San Raffaele Telethon Institute for Gene Therapy (TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Milan Unit, Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081264PMC
September 2018

Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome.

J Perinatol 2018 04 19;38(4):337-344. Epub 2017 Dec 19.

Unit of Genomics for the Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1038/s41372-017-0018-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953905PMC
April 2018

ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis.

Neurobiol Aging 2018 04 28;64:157.e1-157.e5. Epub 2017 Nov 28.

Department of Geriatrics, Neurosciences and Orthopedics, Clinic Center NEMO-Roma, Institute of Neurology, Catholic University School of Medicine, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.11.011DOI Listing
April 2018

Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities.

EJIFCC 2018 Apr 30;29(1):4-14. Epub 2018 Apr 30.

Vita-Salute San Raffaele University, Milan, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949614PMC
April 2018

Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches.

EJIFCC 2018 Apr 30;29(1):15-25. Epub 2018 Apr 30.

Unit of Genomics for Human Disease Diagnosis, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949615PMC
April 2018

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?

Cephalalgia 2017 Oct 19;37(12):1202-1206. Epub 2016 Sep 19.

1 Unit of Child Neuropsychiatry, Head-Neck and Neuroscience Department, Giannina Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1177/0333102416668655DOI Listing
October 2017

Structural and functional brain signatures of C9orf72 in motor neuron disease.

Neurobiol Aging 2017 09 6;57:206-219. Epub 2017 Jun 6.

Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy; Department of Neurology, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.05.024DOI Listing
September 2017

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

Stroke 2016 07 31;47(7):1702-9. Epub 2016 May 31.

From the Department of Cerebrovascular Disease, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy (A.B., G.B.B., E.A.P., N.T.); Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (H.S.M.); Department of Bio-Medical Informatics, University of Pavia, Pavia, Italy (S.Q.); Department of Inherited Cardiovascular Disease, Foundation IRCCS Policlinico San Matteo, Pavia, Italy (E.A., M.G.); Neurology Unit, Department of Neuroscience and Sensory Organs, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy (S.L., L.C.); Neurology and Stroke Unit, Department of Urgency (G.M., A.C.), Department of Genetics (C.C., G.G.), and Brain MRI 3T Research Center (P.V.), IRCCS Foundation Casimiro Mondino Neurological Institute, Pavia, Italy; Department of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Foundation C, Besta Neurological Institute, Milan, Italy (F.T., C.G., S.B.); Department of Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy (S.P., L.M.); Department of Genomics for Human Disease Diagnosis and Laboratory of Clinical Molecular Biology, IRCCS San Raffaele hospital, Milan, Italy (P.C., M.F.); University Vita-Salute, Milano, Italy (M.F.); Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy (S.C., D.R., G.P.C.); Neurology Unit, Department of Neuroscience and Sensory Organs, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan, Milan, Italy (S.C., D.R., G.P.C.); Department of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy (M.T.B.); Center for amyloidosis, Department of medical Thecnologies, IRCCS Foundation San Matteo Policlinico, Pavia, Italy (L.O., G.M.); Vascular Neurology - Spedali Civili, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy (A. Pezzini, A. Padovani); Stroke Unit, Departmen

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http://dx.doi.org/10.1161/STROKEAHA.115.012281DOI Listing
July 2016

Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study.

Clin Chim Acta 2015 Dec 8;451(Pt A):39-45. Epub 2015 Jan 8.

Unit of Genomics for Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milano, Italy.

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http://dx.doi.org/10.1016/j.cca.2015.01.001DOI Listing
December 2015

Erratum to: A disorder of surfactant metabolism without identified genetic mutations.

Ital J Pediatr 2015 Dec 16;41:98. Epub 2015 Dec 16.

Department of Translational Medical Sciences, Federico II University, Via Sergio Pansini, Naples, 5 - 80131, Italy.

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http://dx.doi.org/10.1186/s13052-015-0205-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682217PMC
December 2015

A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.

J Peripher Nerv Syst 2015 Dec;20(4):419-21

Human Inherited Neuropathies Unit, INSPE and Division of Neuroscience, Milan, Italy.

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http://dx.doi.org/10.1111/jns.12139DOI Listing
December 2015

A disorder of surfactant metabolism without identified genetic mutations.

Ital J Pediatr 2015 Nov 25;41:93. Epub 2015 Nov 25.

Department of Translational Medical Sciences, Federico II University, Via Sergio Pansini, 5 - 80131, Naples, Italy.

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http://dx.doi.org/10.1186/s13052-015-0198-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4658764PMC
November 2015

Unusual early recurrence of granular dystrophy after deep anterior lamellar keratoplasty: case report.

Arq Bras Oftalmol 2013 Mar-Apr;76(2):126-8

Ophthalmology - Cornea and Ocular Surface Unit, San Raffaele Scientific institute, Milano, Italy.

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http://dx.doi.org/10.1590/s0004-27492013000200015DOI Listing
April 2014

Null ABCA3 in humans: large homozygous ABCA3 deletion, correlation to clinical-pathological findings.

Pediatr Pulmonol 2014 Mar 14;49(3):E116-20. Epub 2014 Jan 14.

Unit of Genomics for Human Disease Diagnosis, Centre of Translational Genomics and Bioinformatics, Ospedale San Raffaele, Milano, Italy; Laboraf, Diagnostica e Ricerca, Ospedale San Raffaele, Milano, Italy.

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http://dx.doi.org/10.1002/ppul.22983DOI Listing
March 2014

Genetic susceptibility to neonatal lung diseases.

Acta Biomed 2012 ;83 Suppl 1:10-4

Unità di Genomica per la Diagnostica delle Patologie Umane, Centro di Genomica Traslazionale e Bioinformatica, Istituto Scientifico San Raffaele, Milano.

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November 2012

Genetic predisposing factors to bronchopulmonary dysplasia: preliminary data from a multicentre study.

J Matern Fetal Neonatal Med 2012 Oct;25 Suppl 4:127-30

Genomic Unit for Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics, Ospedale San Raffaele, Milan, Italy.

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http://dx.doi.org/10.3109/14767058.2012.714995DOI Listing
October 2012

Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.

Amyotroph Lateral Scler 2012 Jan 30;13(1):132-6. Epub 2011 Aug 30.

Laboratory of Neurogenetics, Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawińskiego 5, Warsaw, Poland.

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http://dx.doi.org/10.3109/17482968.2011.600316DOI Listing
January 2012

Cystogenic potential of CD133+ progenitor cells of human polycystic kidneys.

J Pathol 2011 Sep 27;225(1):129-41. Epub 2011 Jun 27.

Department of Internal Medicine, Research Center for Experimental Medicine (CeRMS) and Center for Molecular Biotechnology, San Giovanni Battista Hospital, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1002/path.2920DOI Listing
September 2011

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
Publisher Site
http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.

J Neurol Sci 2009 Jan 30;276(1-2):31-7. Epub 2008 Oct 30.

Istituto di Neurobiologia e Medicina Molecolare, CNR, Via Fosso del Cavaliere, Rome, Italy.

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http://dx.doi.org/10.1016/j.jns.2008.08.030DOI Listing
January 2009

[Genetic basis in chronic interstitial familial pneumopathy. Familial study of SFTPC].

Pediatr Med Chir 2005 May-Aug;27(3-4):103-7

Divisione di Patologia Neonatale, Ospedale Bolognini, Seriate.

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September 2006

Towards Automation for Molecular Diagnosis of Cancer.

EJIFCC 2005 May 17;16(2):66-72. Epub 2005 May 17.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008967PMC
May 2005

A common mutation in the surfactant protein C gene associated with lung disease.

J Pediatr 2005 Mar;146(3):370-5

Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S002234760400966
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http://dx.doi.org/10.1016/j.jpeds.2004.10.028DOI Listing
March 2005