Grisel Lopez

Grisel Lopez

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Grisel Lopez

Grisel Lopez

Publications by authors named "Grisel Lopez"

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Substrate reduction therapy for GBA1-associated Parkinsonism: Are we betting on the wrong mouse?

Mov Disord 2020 Feb 11;35(2):228-230. Epub 2019 Nov 11.

Hebrew University-Hadassah Medical School, Jerusalem, Israel.

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http://dx.doi.org/10.1002/mds.27903DOI Listing
February 2020

Clinical evaluation of sibling pairs with gaucher disease discordant for parkinsonism.

Mov Disord 2020 Feb 30;35(2):359-365. Epub 2019 Nov 30.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/mds.27916DOI Listing
February 2020

Longitudinal positron emission tomography of dopamine synthesis in subjects with GBA1 mutations.

Ann Neurol 2020 Feb 6. Epub 2020 Feb 6.

Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, NIH, NIMH, Intramural Research Program.

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http://dx.doi.org/10.1002/ana.25692DOI Listing
February 2020

Variation in cognitive function over time in Gaucher disease type 3.

Neurology 2019 12 12;93(24):e2272-e2283. Epub 2019 Nov 12.

From the Section on Molecular Neurogenetics (A.M.S., E.W., T.L., S.U., E.R., N.T., T.R.L.G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD; and Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX. The present address for Tamanna Roshan Lal is Lysosomal Storage and Treatment Program, George Washington University School of Medicine and Children's National Rare Disease Institute, Washington DC.

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http://dx.doi.org/10.1212/WNL.0000000000008618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6937490PMC
December 2019

Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2.

Mol Genet Metab 2019 07 8;127(3):191-199. Epub 2019 Jun 8.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727642PMC
July 2019

Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.

Mol Genet Metab 2018 09 28;125(1-2):1-3. Epub 2018 Jun 28.

Medical Genetics Branch NHGRI, NIH, Bethesda, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178817PMC
September 2018

Cardiac sympathetic denervation predicts PD in at-risk individuals.

Parkinsonism Relat Disord 2018 07 5;52:90-93. Epub 2017 Oct 5.

Chaim Sheba Medical Center and Tel Aviv University, Tel-HaShomer, Israel.

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https://linkinghub.elsevier.com/retrieve/pii/S13538020173036
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http://dx.doi.org/10.1016/j.parkreldis.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6319357PMC
July 2018

Cerebrospinal fluid biomarkers of central dopamine deficiency predict Parkinson's disease.

Parkinsonism Relat Disord 2018 05 15;50:108-112. Epub 2018 Feb 15.

Hypertension Unit, Chaim Sheba Medical Center, Tel Aviv University, Tel-HaShomer, Israel.

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http://dx.doi.org/10.1016/j.parkreldis.2018.02.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6319386PMC
May 2018

Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

Am J Med Genet A 2017 Dec 1;173(12):3211-3215. Epub 2017 Nov 1.

Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787391PMC
December 2017

Gaucher disease: Progress and ongoing challenges.

Mol Genet Metab 2017 Jan - Feb;120(1-2):8-21. Epub 2016 Nov 17.

Medical Genetics Branch, NHGRI, NIH, Bldg 35A Room 1E623, 35 Convent Drive, Bethesda, MD 20892, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5425955PMC
August 2017

Efferocytosis is impaired in Gaucher macrophages.

Haematologica 2017 04 23;102(4):656-665. Epub 2016 Dec 23.

Section of Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, MD, USA

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http://dx.doi.org/10.3324/haematol.2016.155093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395106PMC
April 2017

Clinical studies of GBA1-associated parkinsonism: progress and challenges.

Neurodegener Dis Manag 2016 ;6(1):1-4

Section of Molecular Neurogenetics, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.2217/nmt.15.68DOI Listing
October 2016

Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells.

Mol Genet Metab 2016 May 28;118(1):55-9. Epub 2016 Feb 28.

Section of Molecular Neurogenetics, National Human Genome Research Institute, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.02.008DOI Listing
May 2016

Clinical course and prognosis in patients with Gaucher disease and parkinsonism.

Neurol Genet 2016 Apr 4;2(2):e57. Epub 2016 Mar 4.

Section on Molecular Neurogenetics (G.L., J.K., E.W., D.C., C.G., N.T., O.G.-A., E.S.), Medical Genetics Branch, NHGRI, NIH, Bethesda, MD; Yale School of Medicine (P.K.M.), New Haven, CT; Mater Misericordiae University Hospital (G.M.P.), Dublin, Ireland; Gaucher Clinic (A.Z.), Shaare Zedek Medical Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel; and Lysosomal Disorders Research & Treatment Unit (O.G.-A.), O & O Alpan LLC, Fairfax, VA.

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http://dx.doi.org/10.1212/NXG.0000000000000057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830189PMC
April 2016

Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages.

Aging Cell 2016 Feb 21;15(1):77-88. Epub 2015 Oct 21.

Section of Molecular Neurogenetics, National Human Genome Research Institute, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1111/acel.12409DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717273PMC
February 2016

Bilateral Femoral Osteolytic Lesions in a Patient with Type 3 Gaucher Disease.

Mol Genet Metab Rep 2015 Dec;5:107-109

Section of Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2015.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683618PMC
December 2015

The clinical management of Type 2 Gaucher disease.

Mol Genet Metab 2015 Feb 14;114(2):110-122. Epub 2014 Nov 14.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.11.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312716PMC
February 2015

The link between the GBA gene and parkinsonism.

Lancet Neurol 2012 Nov;11(11):986-98

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S147444221270190
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http://dx.doi.org/10.1016/S1474-4422(12)70190-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141416PMC
November 2012

Clinical approach to nonmotor sensory fluctuations in Parkinson's disease.

J Neurol Sci 2011 Nov 27;310(1-2):82-5. Epub 2011 Aug 27.

National Institutes of Health, National Institutes of Neurological Disorders and Stroke, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.jns.2011.07.056DOI Listing
November 2011

Transcranial direct current stimulation for the treatment of focal hand dystonia.

Mov Disord 2011 Aug 14;26(9):1698-702. Epub 2011 Apr 14.

Medical Neurology Branch, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/mds.23691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180819PMC
August 2011

Characteristics of the sequence effect in Parkinson's disease.

Mov Disord 2010 Oct;25(13):2148-55

Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1428, USA.

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http://dx.doi.org/10.1002/mds.23251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782591PMC
October 2010

Transcranial direct current stimulation for the treatment of Parkinson's disease.

J Neurol Neurosurg Psychiatry 2010 Oct;81(10):1105-11

Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1136/jnnp.2009.202556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162743PMC
October 2010

Psychiatric and behavioral manifestations of lysosomal storage disorders.

Am J Med Genet B Neuropsychiatr Genet 2010 Oct;153B(7):1253-65

Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.b.31097DOI Listing
October 2010

Autosomal recessive mutations in the development of Parkinson's disease.

Biomark Med 2010 Oct;4(5):713-21

Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892-3708, USA.

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http://dx.doi.org/10.2217/bmm.10.96DOI Listing
October 2010

Nonmotor fluctuations in Parkinson's disease: clinical spectrum and classification.

J Neurol Sci 2010 Feb 10;289(1-2):89-92. Epub 2009 Sep 10.

Cerrahpsa Faculty of Medicine, University of Istanbul, Department of Neurology, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.jns.2009.08.022DOI Listing
February 2010

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.

Mov Disord 2009 Aug;24(11):1571-8

Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892-3708, USA.

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http://doi.wiley.com/10.1002/mds.22538
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http://dx.doi.org/10.1002/mds.22538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2736332PMC
August 2009

Safety study of 50 Hz repetitive transcranial magnetic stimulation in patients with Parkinson's disease.

Clin Neurophysiol 2009 Apr 14;120(4):809-15. Epub 2009 Mar 14.

Human Motor Control Section, Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10 Room 7D42 (MSC1428), Center Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.clinph.2009.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667907PMC
April 2009

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

Arch Neurol 2008 Oct;65(10):1353-7

Section on Molecular Neurogenetics, National Human Genome Research Institute, National Institutes of Health, 35 Convent Dr, MSC 3708, Bldg 35, Room 1A213, Bethesda, MD 20892-3708, USA.

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http://dx.doi.org/10.1001/archneur.65.10.1353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2629407PMC
October 2008

Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation.

Neurodegener Dis 2007 6;4(5):386-91. Epub 2007 Jul 6.

Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1159/000105160DOI Listing
October 2007

Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients.

Mov Disord 2006 Oct;21(10):1703-8

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/mds.21007DOI Listing
October 2006

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

Ann Neurol 2005 Mar;57(3):453-6

Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Department of Health and Human Services, Porter Neuroscience Research Center, 9000 Rockville Pike, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1002/ana.20401DOI Listing
March 2005

Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion.

Neurosci Lett 2005 Feb 19;374(3):189-91. Epub 2004 Nov 19.

Laboratory of Neurogenetics, NIA, National Institutes of Health, Bldg. 35, Rm 1A-100, 35 Convent Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neulet.2004.10.053DOI Listing
February 2005