Publications by authors named "Stefano Goldwurm"

87Publications

Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: a Kin Cohort Study.

Mov Disord 2020 Aug 7. Epub 2020 Aug 7.

Parkinson Institute, ASST "Pini-CTO", Milano, Italy.

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http://dx.doi.org/10.1002/mds.28200DOI Listing
August 2020

Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene.

Stem Cell Res 2020 03 11;43:101694. Epub 2020 Jan 11.

Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden.

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http://dx.doi.org/10.1016/j.scr.2019.101694DOI Listing
March 2020

Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene.

Stem Cell Res 2019 01 26;34:101373. Epub 2018 Dec 26.

Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden; Strategic Research Area MultiPark, Lund Stem Cell Center, Lund University, Lund, Sweden.

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http://dx.doi.org/10.1016/j.scr.2018.101373DOI Listing
January 2019

Beyond 35 years of Parkinson's disease: a comprehensive clinical and instrumental assessment.

J Neurol 2018 Sep 26;265(9):1989-1997. Epub 2018 Jun 26.

Department of Neuroscience "Rita Levi Montalcini", University of Turin, Via Cherasco 15, 10124, Turin, Italy.

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http://dx.doi.org/10.1007/s00415-018-8955-zDOI Listing
September 2018

Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients.

Neurosci Lett 2018 06 30;678:37-42. Epub 2018 Apr 30.

Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS-Foundation Neurological Institute Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.neulet.2018.04.044DOI Listing
June 2018

Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene.

Stem Cell Res 2018 04 2;28:44-47. Epub 2018 Feb 2.

Stem Cell Laboratory for CNS Disease Modeling, Wallenberg Neuroscience Center, Department of Experimental Medical Science, BMC A10, Lund University, Lund, Sweden; Strategic Research Area MultiPark, Lund University, Lund, Sweden; Lund Stem Cell Center, Lund University, Lund, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.01.022DOI Listing
April 2018

Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene.

Stem Cell Res 2018 03 4;27:90-94. Epub 2018 Jan 4.

Stem Cell Laboratory for CNS Disease Modeling, Wallenberg Neuroscience Center, Department of Experimental Medical Science, BMC A10, Lund University, Lund, Sweden; Strategic Research Area MultiPark, Lund University, Lund, Sweden; Lund Stem Cell Center, Lund University, Lund, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.01.006DOI Listing
March 2018

Generation of an integration-free induced pluripotent stem cell line (CSC-43) from a patient with sporadic Parkinson's disease.

Stem Cell Res 2018 03 4;27:82-85. Epub 2018 Jan 4.

Stem Cell Laboratory for CNS Disease Modeling, Wallenberg Neuroscience Center, Department of Experimental Medical Science, BMC A10, Lund University, Lund, Sweden; Strategic Research Area MultiPark, Lund University, Lund, Sweden; Lund Stem Cell Center, Lund University, Lund, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.01.007DOI Listing
March 2018

Generation of a human induced pluripotent stem cell line (CSC-42) from a patient with sporadic form of Parkinson's disease.

Stem Cell Res 2018 03 4;27:78-81. Epub 2018 Jan 4.

Stem Cell Laboratory for CNS Disease Modeling, Wallenberg Neuroscience Center, Department of Experimental Medical Science, BMC A10, Lund University, Lund, Sweden; Strategic Research Area MultiPark, Lund University, Lund, Sweden; Lund Stem Cell Center, Lund University, Lund, Sweden.

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http://dx.doi.org/10.1016/j.scr.2018.01.002DOI Listing
March 2018

Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation.

Stem Cell Res 2018 03 4;27:61-64. Epub 2018 Jan 4.

Stem Cell Laboratory for CNS Disease Modeling, Wallenberg Neuroscience Center, Department of Experimental Medical Science, BMC A10, Lund University, Lund, Sweden; Strategic Research Area MultiPark, Lund University, Lund, Sweden; Lund Stem Cell Center, Lund University, Lund, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.01.001DOI Listing
March 2018

Parkin absence accelerates microtubule aging in dopaminergic neurons.

Neurobiol Aging 2018 01 20;61:66-74. Epub 2017 Sep 20.

Department of Biosciences, Università degli Studi di Milano, Milano, Italy; Center of Excellence of Neurodegenerative Diseases, Università degli Studi di Milano, Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.09.010DOI Listing
January 2018

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p.

Sci Rep 2017 10 5;7(1):12702. Epub 2017 Oct 5.

Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini, Pieve Emanuele, Milan, 20090, Italy.

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http://dx.doi.org/10.1038/s41598-017-12973-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629250PMC
October 2017

Creation of a library of induced pluripotent stem cells from Parkinsonian patients.

NPJ Parkinsons Dis 2016 2;2:16009. Epub 2016 Jun 2.

Stem Cell Laboratory for CNS Disease Modeling, Wallenberg Neuroscience Center, Department of Experimental Medical Science, BMC A10, Lund University, Lund, Sweden.

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http://dx.doi.org/10.1038/npjparkd.2016.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516589PMC
June 2016

Opioid K receptor variant is associated with a delayed onset of dyskinesias in Parkinson's disease.

J Neurol Neurosurg Psychiatry 2018 Mar 19;89(3):323-324. Epub 2017 Jul 19.

Parkinson Institute, ASST Gaetano Pini-CTO, Milan, Italy.

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http://dx.doi.org/10.1136/jnnp-2017-316235DOI Listing
March 2018

Tryptophan hydroxylase type 2 variants modulate severity and outcome of addictive behaviors in Parkinson's disease.

Parkinsonism Relat Disord 2016 08 17;29:96-103. Epub 2016 May 17.

CNR - Neuroscience Institute, Milan, Italy; Department of Medical Biotechnologies and Translational Medicine, Università degli Studi di Milano, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2016.05.017DOI Listing
August 2016

Alpha-Synuclein Expression in the Oligodendrocyte Lineage: an In Vitro and In Vivo Study Using Rodent and Human Models.

Stem Cell Reports 2015 Aug 30;5(2):174-84. Epub 2015 Jul 30.

Stem Cell Laboratory for CNS Disease Modeling, Wallenberg Neuroscience Center, Department of Experimental Medical Science, BMC A10, Lund University, 22184 Lund, Sweden; Strategic Research Area MultiPark, Lund University, 22184 Lund, Sweden; Lund Stem Cell Center, Lund University, 22184 Lund, Sweden. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22136711150019
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http://dx.doi.org/10.1016/j.stemcr.2015.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4618831PMC
August 2015

Parkinson's disease beyond 20 years.

J Neurol Neurosurg Psychiatry 2015 Aug 3;86(8):849-55. Epub 2014 Oct 3.

Parkinson Institute, Istituti Clinici di Perfezionamento, Milano, Italy.

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http://dx.doi.org/10.1136/jnnp-2014-308786DOI Listing
August 2015

Glucocerebrosidase mutations in primary parkinsonism.

Parkinsonism Relat Disord 2014 Nov 9;20(11):1215-20. Epub 2014 Sep 9.

Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2014.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228056PMC
November 2014

Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia.

Neurology 2014 Sep 22;83(13):1155-62. Epub 2014 Aug 22.

From the Parkinson Institute (R.C., G.S., D.V., G.P., S.G.), Istituti Clinici di Perfezionamento, Milan; Unit of Molecular Neurogenetics (C.R., A.N., C.B., B.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; IRCCS Santa Maria Nascente Fondazione Don Gnocchi Milano (A.C., A.M.), Milan; Dipartimento di Bioscienze (M.M.-F., M.G.), Università degli Studi di Milano, Milan; Nuclear Medicine (G.M.), IRCCS-Ospedale Maggiore, Milan; and Department of Neurosciences (D.V.), S. Gerardo Hospital, University of Milano-Bicocca, Monza, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000821DOI Listing
September 2014

LRRK2-G2019S mutation is not associated with an increased cancer risk: a kin-cohort study.

Mov Disord 2014 Sep 22;29(10):1325-6. Epub 2014 Jul 22.

Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy.

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http://dx.doi.org/10.1002/mds.25969DOI Listing
September 2014

DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients.

Neurosci Lett 2013 Dec 28;557 Pt B:165-70. Epub 2013 Oct 28.

Medical Genetics Laboratory, Foundation IRCCS "Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena", Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S03043940130095
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http://dx.doi.org/10.1016/j.neulet.2013.10.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3878804PMC
December 2013

C9orf72 repeat expansions are restricted to the ALS-FTD spectrum.

Neurobiol Aging 2014 Apr 2;35(4):936.e13-7. Epub 2013 Oct 2.

Department of Neurology and Laboratory of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Auxologico Italiano, Milan, Italy; Department of Pathophysiology and Transplantation, Dino Ferrari Center, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.09.037DOI Listing
April 2014

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.

Orphanet J Rare Dis 2013 Aug 30;8:129. Epub 2013 Aug 30.

UOSD Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G, Gaslini, Largo G, Gaslini 5, 16147 Genova, Italy.

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http://dx.doi.org/10.1186/1750-1172-8-129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766640PMC
August 2013

Do tardive dyskinesia and L-dopa induced dyskinesia share common genetic risk factors? An exploratory study.

J Mol Neurosci 2013 Oct 12;51(2):380-8. Epub 2013 May 12.

Biological Psychiatry Laboratory, Department of Psychiatry, Hadassah-Hebrew University Medical Center, Ein Karem, Jerusalem, 91120, Israel.

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http://dx.doi.org/10.1007/s12031-013-0020-xDOI Listing
October 2013

Association of nicotine dependence susceptibility gene, CHRNA5, with Parkinson's disease age at onset: gene and smoking status interaction.

Parkinsonism Relat Disord 2013 Jan 9;19(1):72-6. Epub 2012 Aug 9.

Biological Psychiatry Laboratory, Department of Psychiatry, Hadassah - Hebrew University Medical Center, Ein Karem, 91120 Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.parkreldis.2012.07.007DOI Listing
January 2013

SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population.

Parkinsonism Relat Disord 2012 Mar 21;18(3):257-62. Epub 2011 Nov 21.

Dipartimento di Biologia e Genetica per le Scienze Mediche, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2011.10.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314966PMC
March 2012

Association analysis of PARP1 polymorphisms with Parkinson's disease.

Parkinsonism Relat Disord 2011 Nov 20;17(9):701-4. Epub 2011 Jul 20.

Department of Neurology, San Gerardo Hospital, Monza, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2011.06.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3254239PMC
November 2011

Analysis of nucleotide variations in genes of iron management in patients of Parkinson's disease and other movement disorders.

Parkinsons Dis 2010 Oct 17;2011:827693. Epub 2010 Oct 17.

Genomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics and Biostatistics, San Raffaele Scientific Institute, 20132 Milan, Italy.

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http://dx.doi.org/10.4061/2011/827693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957853PMC
October 2010

Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients.

Genet Test Mol Biomarkers 2010 Dec 12;14(6):793-6. Epub 2010 Oct 12.

Genomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics, and Biostatistics, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1089/gtmb.2010.0076DOI Listing
December 2010

Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene.

Neurobiol Aging 2011 Nov 8;32(11):1994-2005. Epub 2010 Jan 8.

Dipartimento di Biologia e Genetica per le Scienze Mediche, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2009.12.016DOI Listing
November 2011

alpha-Synuclein multiplication analysis in Italian familial Parkinson disease.

Parkinsonism Relat Disord 2010 Mar 14;16(3):228-31. Epub 2009 Oct 14.

Parkinson Institute, Istituti Clinici di Perfezionamento, via Bignami 1, 20126 Milan, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2009.09.008DOI Listing
March 2010

Psychiatric symptoms in Parkinson's disease assessed with the SCL-90R self-reported questionnaire.

Neurol Sci 2010 Feb 6;31(1):35-40. Epub 2009 Oct 6.

Parkinson Institute, Istituti Clinici di Perfezionamento, Via Bignami, 1, 20123, Milan, Italy.

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http://dx.doi.org/10.1007/s10072-009-0165-0DOI Listing
February 2010

GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling.

Hum Mol Genet 2009 Dec 10;18(23):4629-39. Epub 2009 Sep 10.

Division of Endocrinology, Rhode Island Hospital, Alpert Medical School of Brown University, Providence, RI 02903, USA.

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http://dx.doi.org/10.1093/hmg/ddp430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773276PMC
December 2009

Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.

Am J Hum Genet 2008 Apr 20;82(4):822-33. Epub 2008 Mar 20.

Division of Endocrinology, Rhode Island Hospital, Alpert Medical School of Brown University, Providence, RI 02903, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970800164
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http://dx.doi.org/10.1016/j.ajhg.2008.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427211PMC
April 2008

HFE gene mutations in a population of Italian Parkinson's disease patients.

Parkinsonism Relat Disord 2008 5;14(5):426-30. Epub 2008 Mar 5.

Dipartimento Materno Infantile e Tecnologie Biomediche, University of Brescia, Viale Europa 11, 25123 Brescia, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2007.10.011DOI Listing
November 2008

Screen for excess FMR1 premutation alleles among males with parkinsonism.

Arch Neurol 2007 Jul;64(7):1002-6

Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, One Shields Avenue, Davis, CA 95616, USA.

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http://dx.doi.org/10.1001/archneur.64.7.1002DOI Listing
July 2007