Alfredo Brusco

Alfredo Brusco

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Alfredo Brusco

Alfredo Brusco

Publications by authors named "Alfredo Brusco"

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 Jul 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.

Neurol Genet 2019 Feb 24;5(1):e305. Epub 2019 Jan 24.

Department of Human Genetics (B.N., Q.S.P.), Graduate School of Public Health, University of Pittsburgh; Department of Medical Sciences (E.G., A.B.), University of Torino, Italy; Department of Radiology (R.R.), Uppsala University, Sweden; Department of Medical Genetics (A.L.), British Columbia Children's Hospital, Vancouver, Canada; Department of Genome Sciences (M. Spielmann), University of Washington, Seattle; Department of Pediatrics (M.K.K., R.A., M.K.), McGovern Medical School, University of Texas, Houston; Departments of Clinical Genomics and Neurology (R.G.), Mayo Clinic, Rochester, MN; Department of Pathology (M.A.), King Abdulaziz University, Jeddah, Saudi Arabia; Department of Medical Imaging (M. Sharma), Western University, London, Canada; Departments of Pathology and Clinical Neurological Sciences (R.H.), Western University and London Health Sciences Centre, Canada; Office of the Clinical Director (W.A.G., C.T.), NHGRI; and NIH Undiagnosed Diseases Program (W.A.G., C.T.), Office of the Director, NIH, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384018PMC
February 2019

ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia.

Neurobiol Aging 2019 01 22;73:231.e7-231.e9. Epub 2018 Sep 22.

Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy; Neurology 1, AOU Città della Salute e della Scienza di Torino, Torino, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.09.009DOI Listing
January 2019

Altered homeostasis of trace elements in the blood of SCA2 patients.

J Trace Elem Med Biol 2018 May 13;47:111-114. Epub 2018 Feb 13.

University of Torino, Department of Medical Sciences, 10126 Torino, Italy; Città della Salute e della Scienza University Hospital, Medical Genetics Unit, 10126 Torino, Italy.

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http://dx.doi.org/10.1016/j.jtemb.2018.02.011DOI Listing
May 2018

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients.

Immunol Lett 2018 02 24;194:40-43. Epub 2017 Dec 24.

University of Torino, Department of Public Health and Pediatrics, Piazza Polonia 94, Turin, 10126, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.imlet.2017.12.006DOI Listing
February 2018

A syndromic extreme insulin resistance caused by biallelic mutations in exon 10.

Eur J Endocrinol 2017 Nov 17;177(5):K21-K27. Epub 2017 Aug 17.

Department of Medical Sciences, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1530/EJE-17-0431DOI Listing
November 2017

Motor Deficits and Cerebellar Atrophy in Knock Out Mice.

Front Cell Neurosci 2017 30;11:343. Epub 2017 Oct 30.

Neurophysiology of Neurodegenerative Diseases, Neuroscience Institute Cavalieri Ottolenghi (NICO), Torino, Italy.

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http://dx.doi.org/10.3389/fncel.2017.00343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5670146PMC
October 2017

Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification.

J Neurol Sci 2017 06 31;377:62-64. Epub 2017 Mar 31.

Koelliker Hospital, 10134 Torino, Italy; Città della Salute e della Scienza University Hospital, Medical Genetics Unit, 10126 Torino, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.03.053DOI Listing
June 2017

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Eur J Paediatr Neurol 2017 May 19;21(3):475-484. Epub 2016 Dec 19.

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

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http://dx.doi.org/10.1016/j.ejpn.2016.12.005DOI Listing
May 2017

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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http://dx.doi.org/10.1016/j.ejmg.2017.01.010DOI Listing
April 2017

Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia.

J Neurol 2016 Nov 3;263(11):2170-2178. Epub 2016 Aug 3.

Unit of Neurology, ASL3 Villa Scassi Hospital, Corso O. Scassi 1, 16149, Genoa, Italy.

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http://dx.doi.org/10.1007/s00415-016-8244-7DOI Listing
November 2016

A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids.

J Alzheimers Dis 2015 ;47(2):319-22

Unit Clinical Neurology and Neurometabolic Diseases, Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.

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http://dx.doi.org/10.3233/JAD-150097DOI Listing
July 2016

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

Am J Hum Genet 2015 Nov 8;97(5):726-37. Epub 2015 Oct 8.

INSERM U 1127, 75013 Paris, France; Centre National de la Recherche Scientifique UMR 7225, 75013 Paris, France; UMRS 1127, Université Pierre et Marie Curie (Paris 06), Sorbonne Universités, 75013 Paris, France; Institut du Cerveau et de la Moelle Épinière, 75013 Paris, France; Ecole Pratique des Hautes Etudes, 75014 Paris, France; Centre de Référence de Neurogénétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667105PMC
November 2015

Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia.

Neurobiol Dis 2015 Sep 13;81:162-7. Epub 2015 Apr 13.

Department of Medical Sciences, University of Torino, Torino 10126, Italy; Città della Salute e della Scienza University Hospital, Medical Genetics Unit, Torino 10126, Italy.

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http://dx.doi.org/10.1016/j.nbd.2015.04.001DOI Listing
September 2015

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Hum Mol Genet 2015 May 30;24(10):2746-56. Epub 2015 Jan 30.

Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy, IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Ospedale Bellaria, Bologna 40139, Italy,

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http://hmg.oxfordjournals.org/content/24/10/2746.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddv034
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http://dx.doi.org/10.1093/hmg/ddv034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406291PMC
May 2015

A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.

Case Rep Genet 2014 23;2014:470830. Epub 2014 Nov 23.

Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy ; Medical Genetics, "Città della Salute e della Scienza" University Hospital, 10126 Torino, Italy.

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http://dx.doi.org/10.1155/2014/470830DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259072PMC
December 2014

Novel mutation of SLC20A2 in an Italian patient presenting with migraine.

J Neurol 2014 Oct 2;261(10):2019-21. Epub 2014 Sep 2.

Neurology I, Department of Neuroscience "Rita Levi Montalcini", University of Torino, Via Cherasco 15, 10126, Torino, Italy,

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http://dx.doi.org/10.1007/s00415-014-7475-8DOI Listing
October 2014

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

Brain 2014 Sep 26;137(Pt 9):2444-55. Epub 2014 Jun 26.

4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France5 Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France27 Ecole Pratique des Hautes Etudes, heSam Université, laboratoire de neurogénétique, ICM, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France.

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http://dx.doi.org/10.1093/brain/awu174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132646PMC
September 2014

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

Eur J Hum Genet 2013 Jul 5;21(7):774-8. Epub 2012 Dec 5.

Università di Torino, Department of Medical Sciences & Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722957PMC
July 2013

Progressive extreme heterotopic calcification.

Am J Med Genet A 2013 Jul 17;161A(7):1706-13. Epub 2013 May 17.

Dipartimento di Scienze della Sanità Pubblica e Pediatriche, Università di Torino, Torino, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35944DOI Listing
July 2013

A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

Mov Disord 2012 Sep 23;27(10):1312-6. Epub 2012 Aug 23.

Child Neurology and Psychiatry Unit, Azienda Ospedaliera Universitaria Senese/University of Siena, Policlinico Le Scotte, Siena, Italy.

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http://dx.doi.org/10.1002/mds.25126DOI Listing
September 2012

Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

Hum Mutat 2012 Jan 9;33(1):198-208. Epub 2011 Nov 9.

Department of Pathology and Laboratory Medicine, UCLA School of Medicine, Los Angeles, California 90095-1732, USA.

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http://dx.doi.org/10.1002/humu.21632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261637PMC
January 2012

ATXN-2 CAG repeat expansions are interrupted in ALS patients.

Hum Genet 2011 Oct 3;130(4):575-80. Epub 2011 May 3.

Department of Medical Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont, Via Solaroli, 17, 28100 Novara, Italy,

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http://dx.doi.org/10.1007/s00439-011-1000-2DOI Listing
October 2011

Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.

Mov Disord 2010 Jul;25(9):1269-73

Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino, Italy.

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http://dx.doi.org/10.1002/mds.22835DOI Listing
July 2010

Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease.

BMC Neurosci 2010 Apr 28;11:55. Epub 2010 Apr 28.

Section of Physiology of the Department of Neuroscience, University of Torino and National Institute of Neuroscience-Italy, Torino, Italy.

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http://dx.doi.org/10.1186/1471-2202-11-55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2880309PMC
April 2010

Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.

Cerebellum 2010 Mar;9(1):115-23

A.O.U. San Giovanni Battista, S.C.D.U. Medical Genetics, Department of Genetics, Biology, and Biochemistry, University of Turin, Turin, Italy.

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http://dx.doi.org/10.1007/s12311-009-0154-0DOI Listing
March 2010

A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia.

Mov Disord 2008 Jul;23(10):1468-71

Department of Genetics, Biology and Biochemistry, University of Torino, Medical Genetics Unit, Az. Osp. San Giovanni Battista, Torino, Italy.

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http://dx.doi.org/10.1002/mds.21953DOI Listing
July 2008

Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

Ann Hum Genet 2008 Jan 3;72(Pt 1):10-8. Epub 2007 Oct 3.

Department of Genetics, Biology and Biochemistry, University of Torino, S. Giovanni Battista Hospital, Torino, Italy.

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http://dx.doi.org/10.1111/j.1469-1809.2007.00399.xDOI Listing
January 2008

CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).

Am J Med Genet B Neuropsychiatr Genet 2007 Jun;144B(4):566-9

Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California 95616, USA.

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http://dx.doi.org/10.1002/ajmg.b.30482DOI Listing
June 2007

ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.

Hum Mutat 2006 Oct;27(10):1061

Department of Genetics Biology and Biochemistry, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1002/humu.9454DOI Listing
October 2006

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

Brain 2006 Jan 26;129(Pt 1):235-42. Epub 2005 Oct 26.

Dipartimento di Genetica Biologia e Biochimica, Università degli Studi di Torino and S.C. Genetica Medica, Ospedale San Giovanni Battista di Torino, Torino, Italy.

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http://dx.doi.org/10.1093/brain/awh651DOI Listing
January 2006

Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy.

Brain Pathol 2005 Apr;15(2):116-23

Department of Neuroscience, Neurology, University of Turin, Via Cherasco 15, 10126 Torino, Italy.

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April 2005

Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.

Hum Mutat 2005 Feb;25(2):118-24

Department of Pathology and Laboratory Medicine, The David Geffen School of Medicine, University of California, Los Angeles 90095-1732, USA.

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http://dx.doi.org/10.1002/humu.20170DOI Listing
February 2005

Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay.

J Mol Diagn 2004 May;6(2):96-100

Dipartimento di Genetica Biologia e Biochimica, Università degli Studi di Torino and Azienda Ospedaliera San Giovanni Battista di Torino, S.C. Genetica Medica, Torino, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867469PMC
http://dx.doi.org/10.1016/S1525-1578(10)60496-5DOI Listing
May 2004

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.

Arch Neurol 2004 May;61(5):727-33

Dipartimento di Genetica, Biologia e Biochimica, Università di Torino and Unitá Operativa Genetica Medica, Ospedale San Giovanni Battista di Torino, Torino, Italy.

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http://dx.doi.org/10.1001/archneur.61.5.727DOI Listing
May 2004