Susan Sparks

Susan Sparks

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Susan Sparks

Susan Sparks

Publications by authors named "Susan Sparks"

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Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Neurology 2019 Jan 9. Epub 2019 Jan 9.

From the John Walton Muscular Dystrophy Research Centre (U.M., M.K.J., A.G.M., R.F.-T., M.E., K.B., R.M.L., H.H., H.L., K.B., V.S.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Central Parkway, Newcastle Upon Tyne, UK; Center for Translational Science (M.J., J.F., A. Cnaan), Division of Biostatistics and Study Methodology, Cooperative International Neuromuscular Research Group (T.D., B.D.), and Department of Neurology (D.X.B.-G.), Children's National Health System; Pediatrics, Epidemiology and Biostatistics (M.J., A. Cnaan), George Washington University, Washington, DC; Neuromuscular Area (R.F.-T.), Biodonostia Health Research Institute, Neurology Service, Donostia University Hospital, Donostia-San Sebastian, Spain; Jain Foundation (L.E.R., P.M.), Seattle, WA; Magnetic Resonance Centre (A.M.B.), Institute of Cellular Medicine, Newcastle University, Newcastle Upon Tyne, UK; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, 47-83, Paris, France; Research Institute at Nationwide Children's Hospital (L.P.L., L.A., K.M.B., J.R.M.), The Ohio State University, Columbus; Institute for Neuroscience and Muscle Research (K.R., M. Hutchence, K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Lucile Salter Packard Children's Hospital at Stanford (T.D.), 24349, Neurology, Palo Alto, CA; Physical Medicine and Rehabilitation (E.M.-M., I.P.-H.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Neuroscience Institute (S.H., M.S., E.B., S. Sparks), Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC; Department of Physical Rehabilitation (A.A., C. Sakamoto, T.T., H.Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Institut de Myologie (A. Canal, G.O., V.D., J.-Y.H., T.S.), AP-HP, GH Pitié-Salpêtrière, Paris, France; Neurorehabilitation Unit (J.B.M.), Rehabilitation Hospital Universitario Virgen del Rocío Sevilla; Neurophysiotherapy Department (N.S.-A.P.), Hospital Universitario Virgen del Rocío, Seville, Spain; Friedrich-Baur-Institute (S. Thiele, S.K., O.S.-K. M.C.W.), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Neurology (C. Siener, J.S., J.M.F., M. Harms, A.P.), Washington University School of Medicine, St. Louis, MO; Centre de Reference des Maladies Neuromusculaires PACA Réunion Rhone Alpes (B.V., E.S.-C.), Hopital de la Timone, Aix-Marseille Université, France; ELAN-PHYSIO (J.P., E.M.), Praxis für Physiotherapie Maron; Charite Muscle Research Unit (U.G., S. Spuler), Experimental and Clinical Research Center, a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Department of Neurology and Neurological Sciences (C.T.R., J.W.D.), Stanford University School of Medicine, CA; NIH (D.X.B.-G.), Bethesda, MD; Neuromuscular Unit (C.P.), Department of Neurology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla, Spain; Department of Neurology (S. Takeda, M.M.-Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Centro de Investigación Biomédica en Red en Enfermedades Raras (J.D.-M.); Neuromuscular Disorders Unit (J.D.-M.), Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; and Department of Neuroscience (L.B., C. Semplicini, E.P.), University of Padova, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369904PMC
January 2019

Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy.

Am J Pathol 2018 04;188(4):1069-1080

McColl-Lockwood Laboratory for Muscular Dystrophy Research, Levine Children's Hospital, Carolinas Medical Center, Charlotte, North Carolina. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2017.12.011DOI Listing
April 2018

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Genet Med 2017 03 11;19(3):297-305. Epub 2016 Aug 11.

Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2016.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303568PMC
March 2017

Glucocorticoid Steroid and Alendronate Treatment Alleviates Dystrophic Phenotype with Enhanced Functional Glycosylation of α-Dystroglycan in Mouse Model of Limb-Girdle Muscular Dystrophy with FKRPP448L Mutation.

Am J Pathol 2016 06 22;186(6):1635-48. Epub 2016 Apr 22.

McColl-Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular/ALS Center, Carolinas Medical Center, Charlotte, North Carolina. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2016.02.015DOI Listing
June 2016

Neonatal hypotonia.

Authors:
Susan E Sparks

Clin Perinatol 2015 Jun;42(2):363-71, ix

Department of Pediatrics, Carolinas Healthcare System, 1000 Blythe Boulevard, Charlotte, NC 28203, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clp.2015.02.008DOI Listing
June 2015

Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients.

Neurology 2014 Jul 11;83(2):151-9. Epub 2014 Jun 11.

From the EEG Section, NINDS (J.M.S.), Medical Genetics Branch, National Human Genome Research Institute (S.E.S., A.L.G.), and Program on Developmental Endocrinology and Genetics, NICHD (C.A.W.), NIH, Bethesda; Departments of Child and Adolescent Psychiatry (D.C.L., E.T.) and Neurology and Developmental Medicine (W.H.T., J.B.E.), Kennedy Krieger Institute, Baltimore; Departments of Neurology (W.H.T., J.B.E.) and Psychiatry and Behavioral Sciences (E.T.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Pediatric Neurology (W.H.T., F.D.P.), Penn State Hershey Children's Hospital, Hershey, PA; Department of Biostatistics (B.S.C.), Johns Hopkins University School of Public Health, Baltimore, MD; Department of Neurology (A.L.G.), Children's National Medical Center; and George Washington University of the Health Sciences (A.L.G.), Washington, DC.

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http://dx.doi.org/10.1212/WNL.0000000000000565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117167PMC
July 2014

Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April 2013, Charlotte, USA.

Brain Pathol 2014 Apr 3;24(3):280-4. Epub 2014 Mar 3.

McColl-Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular/ALS Center, Carolinas Medical Center, Carolinas Healthcare System, Charlotte, NC.

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http://dx.doi.org/10.1111/bpa.12118DOI Listing
April 2014

Update on newborn screening.

Authors:
Susan E Sparks

N C Med J 2013 Nov-Dec;74(6):514-7

Department of Pediatrics, Levine Children's Hospital, Carolinas HealthCare System, PO Box 32861, Charlotte, NC 28232, USA.

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January 2014

Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.

Hum Genet 2013 Aug 17;132(8):923-34. Epub 2013 Apr 17.

McColl-Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular/ALS Center, Carolinas Medical Center, Charlotte, NC 28231, USA.

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http://dx.doi.org/10.1007/s00439-013-1302-7DOI Listing
August 2013

Congenital protein hypoglycosylation diseases.

Authors:
Susan E Sparks

Appl Clin Genet 2012 5;5:43-54. Epub 2012 Jul 5.

Department of Pediatrics, Levine Children's Hospital at Carolinas Medical Center, Charlotte, NC, USA; Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC, USA.

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http://dx.doi.org/10.2147/TACG.S18673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681192PMC
June 2013

Congenital muscular dystrophies.

Handb Clin Neurol 2011 ;101:47-79

Clinical Genetics, Department of Pediatrics, Levine Children's Hospital at Carolinas Medical Center, Charlotte, NC 28232-2861, USA.

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http://dx.doi.org/10.1016/B978-0-08-045031-5.00004-9DOI Listing
July 2011

Hermansky-Pudlak syndrome in two African-American brothers.

Am J Med Genet A 2009 May;149A(5):987-92

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.

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http://dx.doi.org/10.1002/ajmg.a.32757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2788939PMC
May 2009

Trisomy 9 mosaicism and XX sex reversal.

Am J Med Genet A 2007 Nov;143A(22):2688-91

Department of Pediatrics, Children's National Medical Center, Washington, District of Columbia, USA.

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http://dx.doi.org/10.1002/ajmg.a.31996DOI Listing
November 2007

Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia).

Am J Med Genet C Semin Med Genet 2007 Aug;145C(3):302-6

National Institutes of Health, NHGRI, Bethesda, Maryland 20892, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30143
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http://dx.doi.org/10.1002/ajmg.c.30143DOI Listing
August 2007

Inherited disorders of glycosylation.

Authors:
Susan E Sparks

Mol Genet Metab 2006 Jan;87(1):1-7

Clinical Genetics and Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institues of Health, Bethesda, MD 20892, USA.

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January 2006

Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.

Glycobiology 2005 Nov 29;15(11):1102-10. Epub 2005 Jun 29.

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

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http://dx.doi.org/10.1093/glycob/cwi100DOI Listing
November 2005

Quantification of endogenous retinoic acid in limited biological samples by LC/MS/MS.

Biochem J 2005 May;388(Pt 1):363-9

Department of Nutritional Sciences and Toxicology, University of California Berkeley, Berkeley, CA 94720-3104, USA.

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http://dx.doi.org/10.1042/BJ20041867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1186726PMC
May 2005

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.

Mol Genet Metab 2004 Mar;81(3):196-202

Medical Genetics Branch, National Human Genome Research Institute/NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.ymgme.2003.11.012DOI Listing
March 2004

Toxicological and structural features of organophosphorus and organosulfur cannabinoid CB1 receptor ligands.

Toxicol Sci 2003 Nov 27;76(1):131-7. Epub 2003 Aug 27.

Environmental Chemistry and Toxicology Laboratory, Department of Environmental Science, Policy and Management, University of California, Berkeley, California 94720-3112, USA.

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http://dx.doi.org/10.1093/toxsci/kfg216DOI Listing
November 2003

Evidence that mouse brain neuropathy target esterase is a lysophospholipase.

Proc Natl Acad Sci U S A 2003 Jun 12;100(13):7983-7. Epub 2003 Jun 12.

Environmental Chemistry and Toxicology Laboratory, Department of Environmental Science, Policy, and Management, University of California, Berkeley, CA 94720-3112, USA.

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http://dx.doi.org/10.1073/pnas.1232473100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC164699PMC
June 2003

Major intermediates in organophosphate synthesis (PCl3, POCl3, PSCl3, and their diethyl esters) are anticholinesterase agents directly or on activation.

Chem Res Toxicol 2003 Mar;16(3):350-6

Environmental Chemistry and Toxicology Laboratory, Department of Environmental Science, Policy and Management, University of California, Berkeley, California 94720-3112, USA.

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http://dx.doi.org/10.1021/tx020094lDOI Listing
March 2003

Cannabinoid CB1 receptor as a target for chlorpyrifos oxon and other organophosphorus pesticides.

Toxicol Lett 2002 Sep;135(1-2):89-93

Department of Environmental Science, Policy and Management, Environmental Chemistry and Toxicology Laboratory, University of California, Berkeley, CA 94720-3112, USA.

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http://dx.doi.org/10.1016/s0378-4274(02)00251-5DOI Listing
September 2002

Selective inhibitors of fatty acid amide hydrolase relative to neuropathy target esterase and acetylcholinesterase: toxicological implications.

Toxicol Appl Pharmacol 2002 Feb;179(1):57-63

Environmental Chemistry and Toxicology Laboratory, University of California, Berkeley, California 94720-3112, USA.

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http://dx.doi.org/10.1006/taap.2001.9342DOI Listing
February 2002