Nahid Tayebi

Nahid Tayebi

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Nahid Tayebi

Nahid Tayebi

Publications by authors named "Nahid Tayebi"

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35Publications

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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

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

Can GBA1-Associated Parkinson Disease Be Modeled in the Mouse?

Trends Neurosci 2019 Sep 6;42(9):631-643. Epub 2019 Jul 6.

Section of Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA. Electronic address:

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http://dx.doi.org/10.1016/j.tins.2019.05.010DOI Listing
September 2019

C-terminal α-synuclein truncations are linked to cysteine cathepsin activity in Parkinson's disease.

J Biol Chem 2019 06 15;294(25):9973-9984. Epub 2019 May 15.

From the Laboratory of Protein Conformation and Dynamics, Biochemistry and Biophysics Center, National Heart, Lung, and Blood Institute and

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http://dx.doi.org/10.1074/jbc.RA119.008930DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6597809PMC
June 2019

Exploring genetic modifiers of Gaucher disease: The next horizon.

Hum Mutat 2018 12 11;39(12):1739-1751. Epub 2018 Sep 11.

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

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http://dx.doi.org/10.1002/humu.23611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240360PMC
December 2018

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

ACE phenotyping in Gaucher disease.

Mol Genet Metab 2018 04 17;123(4):501-510. Epub 2018 Feb 17.

Section of Molecular Neurogenetics, 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.2018.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891352PMC
April 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

The role of epigenetics in lysosomal storage disorders: Uncharted territory.

Mol Genet Metab 2017 11 1;122(3):10-18. Epub 2017 Aug 1.

Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, United States.

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http://dx.doi.org/10.1016/j.ymgme.2017.07.012DOI Listing
November 2017

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 integral membrane protein-2: a new player in lysosome-related pathology.

Mol Genet Metab 2014 Feb 11;111(2):84-91. Epub 2013 Dec 11.

Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3924958PMC
February 2014

Is Parkinson disease associated with lysosomal integral membrane protein type-2?: challenges in interpreting association data.

Mol Genet Metab 2013 Apr 29;108(4):269-71. Epub 2013 Jan 29.

Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3606890PMC
April 2013

A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.

Eur J Hum Genet 2013 Jan 20;21(1):115-7. Epub 2012 Jun 20.

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

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http://dx.doi.org/10.1038/ejhg.2012.105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522207PMC
January 2013

Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations.

Mol Genet Metab 2011 Sep-Oct;104(1-2):185-8. Epub 2011 Jun 17.

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

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http://dx.doi.org/10.1016/j.ymgme.2011.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352315PMC
January 2012

Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.

Mol Genet Metab 2011 Dec 16;104(4):631-6. Epub 2011 Sep 16.

Department of Dermatology, VA Medical Center & University of California, San Francisco, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224209PMC
December 2011

A mutation in SCARB2 is a modifier in Gaucher disease.

Hum Mutat 2011 Nov 15;32(11):1232-8. Epub 2011 Sep 15.

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

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http://dx.doi.org/10.1002/humu.21566DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196787PMC
November 2011

Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease.

J Mol Diagn 2011 Jul;13(4):401-5

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

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https://linkinghub.elsevier.com/retrieve/pii/S15251578110009
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http://dx.doi.org/10.1016/j.jmoldx.2011.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3123786PMC
July 2011

Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases.

Blood Cells Mol Dis 2011 Jan 16;46(1):88-91. Epub 2010 Sep 16.

Department of Immuno-hematology, Faculty of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.

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http://dx.doi.org/10.1016/j.bcmd.2010.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352325PMC
January 2011

False-positive results using a Gaucher diagnostic kit--RecTL and N370S.

Mol Genet Metab 2010 May 4;100(1):100-2. Epub 2010 Jan 4.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854310PMC
May 2010

Mapping of genes that control the antibody response to human factor IX in mice.

Blood 2005 Feb 21;105(3):1029-35. Epub 2004 Sep 21.

Food and Drug Administration Center for Biologics Evaluation and Research, Bethesda, MD, USA.

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http://dx.doi.org/10.1182/blood-2004-03-1126DOI Listing
February 2005

A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.

J Hum Genet 2004 13;49(4):220-222. Epub 2004 Mar 13.

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, 20892-4405, USA.

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http://link.springer.com/content/pdf/10.1007/s10038-004-0134
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http://www.nature.com/doifinder/10.1007/s10038-004-0134-7
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http://dx.doi.org/10.1007/s10038-004-0134-7DOI Listing
June 2004

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

J Pediatr 2003 Aug;143(2):273-6

Section on Molecular Neurogenetics, NIMH/NIH, 49 Convent Drive, MSC 4405, Bethesda, MD 20892-4405, USA.

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http://dx.doi.org/10.1067/S0022-3476(03)00302-0DOI Listing
August 2003

Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.

Am J Hum Genet 2003 Mar 13;72(3):519-34. Epub 2003 Feb 13.

Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1086/367850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180228PMC
March 2003

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

Pediatr Res 2003 Mar;53(3):387-95

Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1203/01.PDR.0000049515.79882.94DOI Listing
March 2003

Gaucher disease associated with parkinsonism: four further case reports.

Am J Med Genet A 2003 Feb;116A(4):348-51

3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.

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http://dx.doi.org/10.1002/ajmg.a.10028DOI Listing
February 2003

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype.

Mol Genet Metab 2002 Aug;76(4):262-70

Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/s1096-7192(02)00117-8DOI Listing
August 2002

A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.

Am J Med Genet 2002 Mar;108(3):241-6

Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/ajmg.10246DOI Listing
March 2002