Katherine B Sims

Katherine B Sims

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Katherine B Sims

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

Authors:
Martin S Maron Winnie Xin Katherine B Sims Rita Butler Tammy S Haas Ethan J Rowin Robert J Desnick Barry J Maron

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

Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.

Authors:
David E Sleat Abla Tannous Istvan Sohar Jennifer A Wiseman Haiyan Zheng Meiqian Qian Caifeng Zhao Winnie Xin Rosemary Barone Katherine B Sims Dirk F Moore Peter Lobel

J Proteome Res 2017 10 28;16(10):3787-3804. Epub 2017 Aug 28.

Center for Advanced Biotechnology and Medicine , Piscataway, New Jersey 08854, United States.

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http://dx.doi.org/10.1021/acs.jproteome.7b00460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860807PMC
October 2017

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

Authors:
Samuel F Berkovic John F Staropoli Stirling Carpenter Karen L Oliver Stanislav Kmoch Glenn W Anderson John A Damiano Michael S Hildebrand Katherine B Sims Susan L Cotman Melanie Bahlo Katherine R Smith Maxime Cadieux-Dion Patrick Cossette Ivana Jedličková Anna Přistoupilová Sara E Mole

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.

Authors:
Ivana Vodopivec Tracey A Cho Joseph F Rizzo Matthew P Frosch Katherine B Sims

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.

Authors:
Natalia S Rost Lisa Cloonan Allison S Kanakis Kaitlin M Fitzpatrick Danielle R Azzariti Virginia Clarke Charles M Lourenco Dominique P Germain Juan M Politei György A Homola Claudia Sommer Nurcan Üçeyler Katherine B Sims

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.

Authors:
Marisela E Dy Katherine B Sims Jennifer Friedman

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.

Authors:
Melissa A Walker Stefano Volpi Katherine B Sims Jolan E Walter Elisabetta Traggiai

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.

Authors:
Melissa A Walker Nancy Slate Alexandra Alejos Stefano Volpi Rajashri S Iyengar David Sweetser Katherine B Sims Jolan E Walter

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

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Authors:
Mark B Consugar Daniel Navarro-Gomez Emily M Place Kinga M Bujakowska Maria E Sousa Zoë D Fonseca-Kelly Daniel G Taub Maria Janessian Dan Yi Wang Elizabeth D Au Katherine B Sims David A Sweetser Anne B Fulton Qin Liu Janey L Wiggs Xiaowu Gai Eric A Pierce

Genet Med 2015 Apr 20;17(4):253-261. Epub 2014 Nov 20.

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary and Harvard Medical School, Boston, MA, 02114.

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http://dx.doi.org/10.1038/gim.2014.172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572572PMC
April 2015

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

Authors:
Arunava Ghosh Malabendu Jana Khushbu Modi Frank J Gonzalez Katherine B Sims Elizabeth Berry-Kravis Kalipada Pahan

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).

Authors:
Mariana Gómez-Nájera Hilario Barajas-Medina Mayra C Gallegos-Rivas Pedro Mendez-Sashida Kendrick A Goss Katherine B Sims Radhika Tripuraneni Yadira Valles-Ayoub

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

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Authors:
Elizabeth T Cirulli Brittany N Lasseigne Slavé Petrovski Peter C Sapp Patrick A Dion Claire S Leblond Julien Couthouis Yi-Fan Lu Quanli Wang Brian J Krueger Zhong Ren Jonathan Keebler Yujun Han Shawn E Levy Braden E Boone Jack R Wimbish Lindsay L Waite Angela L Jones John P Carulli Aaron G Day-Williams John F Staropoli Winnie W Xin Alessandra Chesi Alya R Raphael Diane McKenna-Yasek Janet Cady J M B Vianney de Jong Kevin P Kenna Bradley N Smith Simon Topp Jack Miller Athina Gkazi Ammar Al-Chalabi Leonard H van den Berg Jan Veldink Vincenzo Silani Nicola Ticozzi Christopher E Shaw Robert H Baloh Stanley Appel Ericka Simpson Clotilde Lagier-Tourenne Stefan M Pulst Summer Gibson John Q Trojanowski Lauren Elman Leo McCluskey Murray Grossman Neil A Shneider Wendy K Chung John M Ravits Jonathan D Glass Katherine B Sims Vivianna M Van Deerlin Tom Maniatis Sebastian D Hayes Alban Ordureau Sharan Swarup John Landers Frank Baas Andrew S Allen Richard S Bedlack J Wade Harper Aaron D Gitler Guy A Rouleau Robert Brown Matthew B Harms Gregory M Cooper Tim Harris Richard M Myers David B Goldstein

Science 2015 Mar 19;347(6229):1436-41. Epub 2015 Feb 19.

Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.

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http://dx.doi.org/10.1126/science.aaa3650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4437632PMC
March 2015

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

Authors:
Xenia Lojewski John F Staropoli Sunita Biswas-Legrand Alexandra M Simas Larissa Haliw Martin K Selig Scott H Coppel Kendrick A Goss Anton Petcherski Uma Chandrachud Steven D Sheridan Diane Lucente Katherine B Sims James F Gusella Dolan Sondhi Ronald G Crystal Peter Reinhardt Jared Sterneckert Hans Schöler Stephen J Haggarty Alexander Storch Andreas Hermann Susan L Cotman

Hum Mol Genet 2014 Apr 23;23(8):2005-22. Epub 2013 Nov 23.

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

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http://dx.doi.org/10.1093/hmg/ddt596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959814PMC
April 2014

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

Authors:
Daniel S Lieber Steven G Hershman Nancy G Slate Sarah E Calvo Katherine B Sims Jeremy D Schmahmann Vamsi K Mootha

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.

Authors:
Susan L Cotman Amel Karaa John F Staropoli Katherine B Sims

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

Targeted exome sequencing of suspected mitochondrial disorders.

Authors:
Daniel S Lieber Sarah E Calvo Kristy Shanahan Nancy G Slate Shangtao Liu Steven G Hershman Nina B Gold Brad A Chapman David R Thorburn Gerard T Berry Jeremy D Schmahmann Mark L Borowsky David M Mueller Katherine B Sims Vamsi K Mootha

Neurology 2013 May 17;80(19):1762-70. Epub 2013 Apr 17.

Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1212/WNL.0b013e3182918c40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3719425PMC
May 2013

Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress.

Authors:
Shuping Li Jinghao Sheng Jamie K Hu Wenhao Yu Hiroko Kishikawa Miaofen G Hu Kaori Shima David Wu Zhengping Xu Winnie Xin Katherine B Sims John E Landers Robert H Brown Guo-fu Hu

Angiogenesis 2013 Apr 10;16(2):387-404. Epub 2012 Nov 10.

Molecular Oncology Research Institute, Tufts Medical Center, 800 Washington Street, Box 5069, Boston, MA 02111, USA.

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http://dx.doi.org/10.1007/s10456-012-9322-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3582744PMC
April 2013

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.

Authors:
Katherine R Smith Hans-Henrik M Dahl Laura Canafoglia Eva Andermann John Damiano Michela Morbin Amalia C Bruni Giorgio Giaccone Patrick Cossette Paul Saftig Joachim Grötzinger Michael Schwake Frederick Andermann John F Staropoli Katherine B Sims Sara E Mole Silvana Franceschetti Noreen A Alexander Jonathan D Cooper Harold A Chapman Stirling Carpenter Samuel F Berkovic Melanie Bahlo

Hum Mol Genet 2013 Apr 7;22(7):1417-23. Epub 2013 Jan 7.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne 3052, Australia.

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http://hmg.oxfordjournals.org/content/early/2013/01/12/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds558
Publisher Site
http://dx.doi.org/10.1093/hmg/dds558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3596852PMC
April 2013

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

Authors:
Ans T van der Ploeg Richard Barohn Lisa Carlson Joel Charrow Paula R Clemens Robert J Hopkin Priya S Kishnani Pascal Laforêt Claire Morgan Sharon Nations Alan Pestronk Horacio Plotkin Barry E Rosenbloom Katherine B Sims Elisa Tsao

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.

Authors:
Sharon E Smith Thomas E Mullen Dionne Graham Katherine B Sims Heidi L Rehm

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

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

Authors:
John F Staropoli Amel Karaa Elaine T Lim Andrew Kirby Naser Elbalalesy Stephen G Romansky Karen B Leydiker Scott H Coppel Rosemary Barone Winnie Xin Marcy E MacDonald Jose E Abdenur Mark J Daly Katherine B Sims Susan L Cotman

Am J Hum Genet 2012 Jul 28;91(1):202-8. Epub 2012 Jun 28.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.05.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3397260PMC
July 2012

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Authors:
Katherine R Smith John Damiano Silvana Franceschetti Stirling Carpenter Laura Canafoglia Michela Morbin Giacomina Rossi Davide Pareyson Sara E Mole John F Staropoli Katherine B Sims Jada Lewis Wen-Lang Lin Dennis W Dickson Hans-Henrik Dahl Melanie Bahlo Samuel F Berkovic

Am J Hum Genet 2012 Jun 17;90(6):1102-7. Epub 2012 May 17.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1016/j.ajhg.2012.04.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370276PMC
June 2012

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

Authors:
John F Staropoli Winnie Xin Rosemary Barone Susan L Cotman Katherine B Sims

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.

Authors:
Jeffrey A Brown Jionghong Min John F Staropoli Elisa Collin Stephen Bi Xin Feng Rosemary Barone Yi Cao Lei O'Malley Winnie Xin Thomas E Mullen Katherine B Sims

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

Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.

Authors:
Nutan Sharma Ioanna A Armata Trisha J Multhaupt-Buell Laurie J Ozelius Winnie Xin Katherine B Sims

Mov Disord 2011 Sep 14;26(11):2140-1. Epub 2011 Jun 14.

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http://dx.doi.org/10.1002/mds.23786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3175261PMC
September 2011

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Authors:
Lenka Nosková Viktor Stránecký Hana Hartmannová Anna Přistoupilová Veronika Barešová Robert Ivánek Helena Hůlková Helena Jahnová Julie van der Zee John F Staropoli Katherine B Sims Jaana Tyynelä Christine Van Broeckhoven Peter C G Nijssen Sara E Mole Milan Elleder Stanislav Kmoch

Am J Hum Genet 2011 Aug 4;89(2):241-52. Epub 2011 Aug 4.

Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.ajhg.2011.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3155175PMC
August 2011

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel.

Authors:
Alessandro P Burlina Katherine B Sims Juan M Politei Gary J Bennett Ralf Baron Claudia Sommer Anette Torvin Møller Max J Hilz

BMC Neurol 2011 May 27;11:61. Epub 2011 May 27.

Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy.

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http://dx.doi.org/10.1186/1471-2377-11-61DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126707PMC
May 2011

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

Authors:
Katherine B Sims Andrew J Cole Janet C Sherman Paul A Caruso Matija Snuderl

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.

Authors:
John F Staropoli Winnie Xin Katherine B Sims

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

A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells.

Authors:
Oded Shaham Nancy G Slate Olga Goldberger Qiuwei Xu Arvind Ramanathan Amanda L Souza Clary B Clish Katherine B Sims Vamsi K Mootha

Proc Natl Acad Sci U S A 2010 Jan 8;107(4):1571-5. Epub 2010 Jan 8.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://mootha.med.harvard.edu/PubPDFs/2010ShahamPNAS.pdf
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http://www.pnas.org/cgi/doi/10.1073/pnas.0906039107
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http://dx.doi.org/10.1073/pnas.0906039107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824369PMC
January 2010

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

Authors:
David E Sleat Lin Ding Shudan Wang Caifeng Zhao Yanhong Wang Winnie Xin Haiyan Zheng Dirk F Moore Katherine B Sims Peter Lobel

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

Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper.

Authors:
Petra Olivova Kristen van der Veen Emmaline Cullen Michael Rose X Kate Zhang Katherine B Sims Joan Keutzer Marsha F Browning

Clin Chim Acta 2009 May 24;403(1-2):159-62. Epub 2009 Feb 24.

Genzyme, Framingham, MA, United States.

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http://dx.doi.org/10.1016/j.cca.2009.02.008DOI Listing
May 2009

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

Authors:
Daniel J Costello Katherine B Sims

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.

Authors:
Stefanie H Freeman Bradley T Hyman Katherine B Sims E T Hedley-Whyte Arastoo Vossough Matthew P Frosch Jeremy D Schmahmann

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.

Authors:
Kevin J Staley Katherine B Sims P Ellen Grant E Tessa Hedley-Whyte

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

Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme.

Authors:
David Bodensteiner C Ronald Scott Katherine B Sims Gillian M Shepherd Rebecca D Cintron Dominique P Germain

Genet Med 2008 May;10(5):353-8

Division of Hematology/Oncology, University of Kansas Medical Center, Kansas City, Kansas 66205, USA.

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http://dx.doi.org/10.1097/GIM.0b013e318170f868DOI Listing
May 2008

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

Authors:
Shawn A Gregory Calum A MacRae Kusai Aziz Katherine B Sims Jeremy D Schmahmann Arash Kardan Alexander M Morss Patrick T Ellinor Ahmed Tawakol Alan J Fischman Henry Gewirtz

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.

Authors:
Nagagopal Venna Katherine B Sims P Ellen Grant

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.

Authors:
Henry J Mankin Katherine B Sims Catherine M Bove

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.

Authors:
Mary S Ahn Katherine B Sims Jean A Frazier

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.

Authors:
Peter M Andersen Katherine B Sims Winnie W Xin Rosemary Kiely Gilmore O'Neill John Ravits Erik Pioro Yadollah Harati Richard D Brower Johanan S Levine Hedvika U Heinicke William Seltzer Michael Boss Robert H Brown

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