Katherine B Sims

Katherine B Sims

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Katherine B Sims

Katherine B Sims

Publications by authors named "Katherine B Sims"

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Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.

Am J Med 2018 02 21;131(2):200.e1-200.e8. Epub 2017 Sep 21.

Hypertrophic Cardiomyopathy Institute, Division of Cardiology, Tufts Medical Center, Boston, Mass.

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http://dx.doi.org/10.1016/j.amjmed.2017.09.010DOI Listing
February 2018

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

Mitochondrial Encephalopathy and Optic Neuropathy Due to m.10158 MT-ND3 Complex I Mutation Presenting in an Adult Patient: Case Report and Review of the Literature.

Neurologist 2016 Jul;21(4):61-5

*Harvard Medical School †Department of Neurology, Massachusetts General Hospital ‡Massachusetts Eye and Ear Infirmary, Neuro-Ophthalmology Service §Massachusetts General Hospital, Neuropathology Service, Boston, MA.

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http://dx.doi.org/10.1097/NRL.0000000000000084DOI Listing
July 2016

Determinants of white matter hyperintensity burden in patients with Fabry disease.

Neurology 2016 May 20;86(20):1880-6. Epub 2016 Apr 20.

From the J. Philip Kistler Stroke Research Center, Department of Neurology (N.S.R., L.C., A.S.K., K.M.F.), and the Center for Human Genetic Research, Department of Neurology (N.S.R., D.R.A., V.C., K.B.S.), Massachusetts General Hospital, Boston; Neurogenetics Unit (C.M.L.), School of Medicine of Riberirao Preto, University of São Paulo, Brazil; Division of Medical Genetics (D.P.G.), University of Versailles-St Quentin en Yvelines Paris-Saclay University, France; Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN) (J.M.P.), Buenos Aires, Argentina; and Departments of Neuroradiology (G.A.H.) and Neurology (C.S., N.Ü.), Fabry Center for Interdisciplinary Therapy (FAZIT) (C.S., N.Ü.), University of Würzburg, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000002673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873685PMC
May 2016

TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia.

Neurology 2015 Oct 29;85(14):1259-61. Epub 2015 Jul 29.

From Boston Children's Hospital/Massachusetts General Hospital, Harvard Medical School (M.E.D.); Rady Children's Hospital (M.E.D., J.F.), University of California, San Diego; and Massachusetts General Hospital, Harvard Medical School (K.B.S.), Boston.

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http://dx.doi.org/10.1212/WNL.0000000000001876DOI Listing
October 2015

Powering the immune system: mitochondria in immune function and deficiency.

J Immunol Res 2014 21;2014:164309. Epub 2014 Sep 21.

Novartis Institute for Research in Biomedicine, Basel, Switzerland.

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http://dx.doi.org/10.1155/2014/164309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189529PMC
June 2015

Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center.

J Allergy Clin Immunol Pract 2014 Jul-Aug;2(4):465-468, 468.e1. Epub 2014 Apr 13.

Division of Allergy and Immunology, Department of Pediatrics, Massachusetts General Hospital for Children, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2014.02.009DOI Listing
April 2015

Activation of peroxisome proliferator-activated receptor α induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders.

J Biol Chem 2015 Apr 6;290(16):10309-24. Epub 2015 Mar 6.

From the Departments of Neurological Sciences and the Division of Research and Development, Jesse Brown Veterans Affairs Medical Center, Chicago, Illinois 60612

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http://www.jbc.org/lookup/doi/10.1074/jbc.M114.610659
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http://dx.doi.org/10.1074/jbc.M114.610659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400343PMC
April 2015

New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease).

J Pediatr Gastroenterol Nutr 2015 Mar;60(3):e22-4

*Hospital de Ginecopediatria #48 IMSS, León, Guanajuato, México †Unidad Médica de Alta Especialidad 1, IMSS, Leon, Guanajuato, México ‡Center for Human Genetics, Massachusetts General Hospital §Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston ||Synageva BioPharma Corp, Lexington, MA ¶HIBM Research Group, Los Angeles, CA.

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http://dx.doi.org/10.1097/MPG.0000000000000175DOI Listing
March 2015

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.

BMC Med Genet 2014 Mar 6;15:30. Epub 2014 Mar 6.

Ataxia Unit, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital & Harvard Medical School, Boston, MA 02114 USA,

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http://dx.doi.org/10.1186/1471-2350-15-30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015298PMC
March 2014

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

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.

Mol Genet Metab 2012 Nov 17;107(3):456-61. Epub 2012 Sep 17.

Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center-University Hospital Sophia Children's Hospital, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands.

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http://www.neuromuscular.ru/project/www.neuromuscular.ru/fil
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http://linkinghub.elsevier.com/retrieve/pii/S109671921200356
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http://dx.doi.org/10.1016/j.ymgme.2012.09.015DOI Listing
November 2012

Norrie disease: extraocular clinical manifestations in 56 patients.

Am J Med Genet A 2012 Aug 11;158A(8):1909-17. Epub 2012 Jul 11.

Harvard Medical School Genetics Training Program, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.35469DOI Listing
August 2012

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
Publisher Site
http://dx.doi.org/10.3109/17482968.2011.643899DOI Listing
February 2012

Case records of the Massachusetts General Hospital. Case 8-2011. A 32-year-old woman with seizures and cognitive decline.

N Engl J Med 2011 Mar;364(11):1062-74

Department of Neurology, Massachusetts General Hospital, Boston, USA.

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http://dx.doi.org/10.1056/NEJMcpc1013927DOI Listing
March 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

Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology.

Mol Cell Proteomics 2009 Jul 20;8(7):1708-18. Epub 2009 Apr 20.

Center for Advanced Biotechnology and Medicine, Department of Pharmacology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Piscataway, New Jersey 08854, USA.

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http://dx.doi.org/10.1074/mcp.M900122-MCP200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2709195PMC
July 2009

Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation.

Neurology 2009 Apr;72(14):1279-80

Epilepsy Service, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1212/01.wnl.0000345663.71421.1dDOI Listing
April 2009

Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations.

Brain Pathol 2009 Jan 15;19(1):39-47. Epub 2008 Apr 15.

C.S. Kubik Laboratory for Neuropathology, Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02129, USA.

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http://doi.wiley.com/10.1111/j.1750-3639.2008.00163.x
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http://dx.doi.org/10.1111/j.1750-3639.2008.00163.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757058PMC
January 2009

Case records of the Massachusetts General Hospital. Case 28-2008. An 8-day-old infant with congenital deafness, lethargy, and hypothermia.

N Engl J Med 2008 Sep;359(11):1156-67

Department of Pediatric Neurology, Massachusetts General Hospital, USA.

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http://dx.doi.org/10.1056/NEJMcpc0804642DOI Listing
September 2008

Myocardial blood flow and oxygen consumption in patients with Friedreich's ataxia prior to the onset of cardiomyopathy.

Coron Artery Dis 2007 Feb;18(1):15-22

Departments of Medicine (Cardiology Division), Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1097/01.mca.0000236289.02178.60DOI Listing
February 2007

Case records of the Massachusetts General Hospital. Case 26-2006. A 19-year-old woman with difficulty walking.

N Engl J Med 2006 Aug;355(8):831-9

Neurology Service, Massachusetts General Hospital, USA.

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http://www.nejm.org/doi/10.1056/NEJMcpc069015
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http://dx.doi.org/10.1056/NEJMcpc069015DOI Listing
August 2006

Erlenmeyer flasking of a child's bones: a diagnostic puzzle.

Am J Orthop (Belle Mead NJ) 2005 Aug;34(8):393-5

Orthopaedic Oncology Service and Developmental Neurogenetics Clinic, Massachusetts General Hospital, Harvard Medical School, Boston 02114, USA.

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August 2005

Risperidone-induced psychosis and depression in a child with a mitochondrial disorder.

J Child Adolesc Psychopharmacol 2005 Jun;15(3):520-5

Department of Psychiatry, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.liebertpub.com/doi/10.1089/cap.2005.15.520
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http://dx.doi.org/10.1089/cap.2005.15.520DOI Listing
June 2005

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.

Amyotroph Lateral Scler Other Motor Neuron Disord 2003 Jun;4(2):62-73

Cecil B Day Laboratory for Neuromuscular Research, Department of Neurology, Massachusetts General Hospital East and Harvard Medical School, Charlestown, MA, USA.

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http://dx.doi.org/10.1080/14660820310011700DOI Listing
June 2003