John F Staropoli

John F Staropoli

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John F Staropoli

John F Staropoli

Publications by authors named "John F Staropoli"

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32Publications

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Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Neurology 2016 Aug 13;87(6):579-84. Epub 2016 Jul 13.

From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia; Biogen, Inc. (J.F.S.), Cambridge, MA; Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal; Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague; General University Hospital in Prague (S.K.), Czech Republic; Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK; Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston; Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research; Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia; Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada; and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000002943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977374PMC
August 2016

Practical murine hematopathology: a comparative review and implications for research.

Comp Med 2015 Apr;65(2):96-113

Center for Comparative Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA; Department of Pathology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4408895PMC
April 2015

Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.

Clin Chem 2015 Feb 11;61(2):412-9. Epub 2014 Dec 11.

Newborn Screening and Molecular Biology Branch, Division of Laboratory Sciences, Centers for Disease Control and Prevention, Atlanta, GA;

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http://dx.doi.org/10.1373/clinchem.2014.231019DOI Listing
February 2015

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.

Curr Neurol Neurosci Rep 2013 Aug;13(8):366

Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, 185 Cambridge St, Boston, MA 02114, USA.

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http://dx.doi.org/10.1007/s11910-013-0366-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774306PMC
August 2013

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.

BMC Med Genet 2012 Jun 24;13:50. Epub 2012 Jun 24.

Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA.

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http://dx.doi.org/10.1186/1471-2350-13-50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443422PMC
June 2012

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.

Amyotroph Lateral Scler 2012 Feb;13(2):217-22

Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA.

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http://www.tandfonline.com/doi/full/10.3109/17482968.2011.64
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http://dx.doi.org/10.3109/17482968.2011.643899DOI Listing
February 2012

The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.

Clin Lipidol 2012 Feb;7(1):79-91

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA.

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http://dx.doi.org/10.2217/clp.11.70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334816PMC
February 2012

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.

PLoS One 2011 Feb 17;6(2):e17118. Epub 2011 Feb 17.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0017118PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3040763PMC
February 2011

Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.

J Med Genet 2010 Nov 2;47(11):786-90. Epub 2010 Aug 2.

MGH Neurogenetics DNA Diagnostic Laboratory, Simches Research Building 5-300, 185 Cambridge Street, Room 5238, Boston, MA 02114, USA.

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http://dx.doi.org/10.1136/jmg.2010.079301DOI Listing
November 2010

Cord formation in a clinical isolate of Mycobacterium marinum.

J Clin Microbiol 2008 Aug 25;46(8):2814-6. Epub 2008 Jun 25.

Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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http://jcm.asm.org/cgi/doi/10.1128/JCM.00197-08
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http://dx.doi.org/10.1128/JCM.00197-08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2519507PMC
August 2008

Tumorigenesis and neurodegeneration: two sides of the same coin?

Authors:
John F Staropoli

Bioessays 2008 Aug;30(8):719-27

Department of Pathology, Massachusetts General Hospital, Gray-Jackson 249, MGH, 55 Fruit St Boston, MA 02114-2696, USA.

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http://doi.wiley.com/10.1002/bies.20784
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http://dx.doi.org/10.1002/bies.20784DOI Listing
August 2008

The ubiquitin-proteasome pathway is necessary for maintenance of the postmitotic status of neurons.

J Mol Neurosci 2005 ;27(2):175-83

Department of Pathology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA.

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http://dx.doi.org/10.1385/JMN:27:2:175DOI Listing
December 2005

Parkin is a component of an SCF-like ubiquitin ligase complex and protects postmitotic neurons from kainate excitotoxicity.

Neuron 2003 Mar;37(5):735-49

Department of Pathology, Center for Neurobiology and Behavior, Taub Institute, College of Physicians and Surgeons, Columbia University, 15-403, 630 West 168th Street, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/s0896-6273(03)00084-9DOI Listing
March 2003

MSJAMA: The public health implications of global warming.

Authors:
John F Staropoli

JAMA 2002 May;287(17):2282

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May 2002