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Items: 1 to 50 of 70

1.

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

Maron MS, Xin W, Sims KB, Butler R, Haas TS, Rowin EJ, Desnick RJ, Maron BJ.

Am J Med. 2018 Feb;131(2):200.e1-200.e8. doi: 10.1016/j.amjmed.2017.09.010. Epub 2017 Sep 21.

PMID:
28943383
2.

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

Sleat DE, Tannous A, Sohar I, Wiseman JA, Zheng H, Qian M, Zhao C, Xin W, Barone R, Sims KB, Moore DF, Lobel P.

J Proteome Res. 2017 Oct 6;16(10):3787-3804. doi: 10.1021/acs.jproteome.7b00460. Epub 2017 Aug 28.

3.

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

Berkovic SF, Staropoli JF, Carpenter S, Oliver KL, Kmoch S, Anderson GW, Damiano JA, Hildebrand MS, Sims KB, Cotman SL, Bahlo M, Smith KR, Cadieux-Dion M, Cossette P, Jedličková I, Přistoupilová A, Mole SE; ANCL Gene Discovery Consortium.

Neurology. 2016 Aug 9;87(6):579-84. doi: 10.1212/WNL.0000000000002943. Epub 2016 Jul 13.

4.

Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis.

Zar-Kessler C, Karaa A, Sims KB, Clarke V, Kuo B.

Therap Adv Gastroenterol. 2016 Jul;9(4):626-34. doi: 10.1177/1756283X16642936. Epub 2016 Apr 15. Review.

5.

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.

Vodopivec I, Cho TA, Rizzo JF 3rd, Frosch MP, Sims KB.

Neurologist. 2016 Jul;21(4):61-5. doi: 10.1097/NRL.0000000000000084. Review.

PMID:
27348141
6.

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

Rost NS, Cloonan L, Kanakis AS, Fitzpatrick KM, Azzariti DR, Clarke V, Lourenco CM, Germain DP, Politei JM, Homola GA, Sommer C, Üçeyler N, Sims KB.

Neurology. 2016 May 17;86(20):1880-6. doi: 10.1212/WNL.0000000000002673. Epub 2016 Apr 20.

7.

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

Dy ME, Sims KB, Friedman J.

Neurology. 2015 Oct 6;85(14):1259-61. doi: 10.1212/WNL.0000000000001876. Epub 2015 Jul 29. No abstract available.

PMID:
26224725
8.

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

Ghosh A, Jana M, Modi K, Gonzalez FJ, Sims KB, Berry-Kravis E, Pahan K.

J Biol Chem. 2015 Apr 17;290(16):10309-24. doi: 10.1074/jbc.M114.610659. Epub 2015 Mar 6.

9.

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

Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A; FALS Sequencing Consortium, Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C, Pulst SM, Gibson S, Trojanowski JQ, Elman L, McCluskey L, Grossman M, Shneider NA, Chung WK, Ravits JM, Glass JD, Sims KB, Van Deerlin VM, Maniatis T, Hayes SD, Ordureau A, Swarup S, Landers J, Baas F, Allen AS, Bedlack RS, Harper JW, Gitler AD, Rouleau GA, Brown R, Harms MB, Cooper GM, Harris T, Myers RM, Goldstein DB.

Science. 2015 Mar 27;347(6229):1436-41. doi: 10.1126/science.aaa3650. Epub 2015 Feb 19.

10.

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

Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA.

Genet Med. 2015 Apr;17(4):253-261. doi: 10.1038/gim.2014.172. Epub 2014 Nov 20.

11.

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

Walker MA, Volpi S, Sims KB, Walter JE, Traggiai E.

J Immunol Res. 2014;2014:164309. doi: 10.1155/2014/164309. Epub 2014 Sep 21. Review.

12.

Coenzyme Q10 and immunity: A case report and new implications for treatment of recurrent infections in metabolic diseases.

Farough S, Karaa A, Walker MA, Slate N, Dasu T, Verbsky J, Fusunyan R, Canapari C, Kinane TB, Van Cleave J, Sweetser DA, Sims KB, Walter JE.

Clin Immunol. 2014 Dec;155(2):209-12. doi: 10.1016/j.clim.2014.09.010. Epub 2014 Sep 28.

PMID:
25264263
13.

NDP-Related Retinopathies.

Sims KB.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1999 Jul 30 [updated 2014 Sep 18].

14.

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

Walker MA, Slate N, Alejos A, Volpi S, Iyengar RS, Sweetser D, Sims KB, Walter JE.

J Allergy Clin Immunol Pract. 2014 Jul-Aug;2(4):465-468, 468.e1. doi: 10.1016/j.jaip.2014.02.009. Epub 2014 Apr 13. No abstract available.

PMID:
25017538
15.

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

Lieber DS, Hershman SG, Slate NG, Calvo SE, Sims KB, Schmahmann JD, Mootha VK.

BMC Med Genet. 2014 Mar 6;15:30. doi: 10.1186/1471-2350-15-30.

16.

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

Lojewski X, Staropoli JF, Biswas-Legrand S, Simas AM, Haliw L, Selig MK, Coppel SH, Goss KA, Petcherski A, Chandrachud U, Sheridan SD, Lucente D, Sims KB, Gusella JF, Sondhi D, Crystal RG, Reinhardt P, Sterneckert J, Schöler H, Haggarty SJ, Storch A, Hermann A, Cotman SL.

Hum Mol Genet. 2014 Apr 15;23(8):2005-22. doi: 10.1093/hmg/ddt596. Epub 2013 Nov 23.

17.

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

Gómez-Nájera M, Barajas-Medina H, Gallegos-Rivas MC, Mendez-Sashida P, Goss KA, Sims KB, Tripuraneni R, Valles-Ayoub Y.

J Pediatr Gastroenterol Nutr. 2015 Mar;60(3):e22-4. doi: 10.1097/MPG.0000000000000175. No abstract available.

PMID:
24048164
18.

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.

Cotman SL, Karaa A, Staropoli JF, Sims KB.

Curr Neurol Neurosci Rep. 2013 Aug;13(8):366. doi: 10.1007/s11910-013-0366-z. Review.

19.

Targeted exome sequencing of suspected mitochondrial disorders.

Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, Mootha VK.

Neurology. 2013 May 7;80(19):1762-70. doi: 10.1212/WNL.0b013e3182918c40. Epub 2013 Apr 17.

20.

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

Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M.

Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub 2013 Jan 7.

21.

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

Li S, Sheng J, Hu JK, Yu W, Kishikawa H, Hu MG, Shima K, Wu D, Xu Z, Xin W, Sims KB, Landers JE, Brown RH Jr, Hu GF.

Angiogenesis. 2013 Apr;16(2):387-404. doi: 10.1007/s10456-012-9322-9. Epub 2012 Nov 10.

22.

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

van der Ploeg AT, Barohn R, Carlson L, Charrow J, Clemens PR, Hopkin RJ, Kishnani PS, Laforêt P, Morgan C, Nations S, Pestronk A, Plotkin H, Rosenbloom BE, Sims KB, Tsao E.

Mol Genet Metab. 2012 Nov;107(3):456-61. doi: 10.1016/j.ymgme.2012.09.015. Epub 2012 Sep 17.

PMID:
23031366
23.

Norrie disease: extraocular clinical manifestations in 56 patients.

Smith SE, Mullen TE, Graham D, Sims KB, Rehm HL.

Am J Med Genet A. 2012 Aug;158A(8):1909-17. doi: 10.1002/ajmg.a.35469. Epub 2012 Jul 11.

PMID:
22786811
24.

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

Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL.

Am J Hum Genet. 2012 Jul 13;91(1):202-8. doi: 10.1016/j.ajhg.2012.05.023. Epub 2012 Jun 28.

25.

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

Staropoli JF, Xin W, Barone R, Cotman SL, Sims KB.

BMC Med Genet. 2012 Jun 24;13:50. doi: 10.1186/1471-2350-13-50.

26.

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF.

Am J Hum Genet. 2012 Jun 8;90(6):1102-7. doi: 10.1016/j.ajhg.2012.04.021. Epub 2012 May 17.

27.

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.

Brown JA, Min J, Staropoli JF, Collin E, Bi S, Feng X, Barone R, Cao Y, O'Malley L, Xin W, Mullen TE, Sims KB.

Amyotroph Lateral Scler. 2012 Feb;13(2):217-22. doi: 10.3109/17482968.2011.643899.

PMID:
22292843
28.

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

Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Barešová V, Ivánek R, Hůlková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S.

Am J Hum Genet. 2011 Aug 12;89(2):241-52. doi: 10.1016/j.ajhg.2011.07.003. Epub 2011 Aug 4. Erratum in: Am J Hum Genet. 2011 Oct 7;89(4):589.

29.

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

Sharma N, Armata IA, Multhaupt-Buell TJ, Ozelius LJ, Xin W, Sims KB.

Mov Disord. 2011 Sep;26(11):2140-1. doi: 10.1002/mds.23786. Epub 2011 Jun 14. No abstract available.

30.

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

Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C, Møller AT, Hilz MJ.

BMC Neurol. 2011 May 27;11:61. doi: 10.1186/1471-2377-11-61. Review.

31.

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

Sims KB, Cole AJ, Sherman JC, Caruso PA, Snuderl M.

N Engl J Med. 2011 Mar 17;364(11):1062-74. doi: 10.1056/NEJMcpc1013927. No abstract available.

PMID:
21410375
32.

Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.

Staropoli JF, Xin W, Sims KB.

J Med Genet. 2010 Nov;47(11):786-90. doi: 10.1136/jmg.2010.079301. Epub 2010 Aug 2.

PMID:
20679667
33.

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

Shaham O, Slate NG, Goldberger O, Xu Q, Ramanathan A, Souza AL, Clish CB, Sims KB, Mootha VK.

Proc Natl Acad Sci U S A. 2010 Jan 26;107(4):1571-5. doi: 10.1073/pnas.0906039107. Epub 2010 Jan 8.

34.

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

Sleat DE, Ding L, Wang S, Zhao C, Wang Y, Xin W, Zheng H, Moore DF, Sims KB, Lobel P.

Mol Cell Proteomics. 2009 Jul;8(7):1708-18. doi: 10.1074/mcp.M900122-MCP200. Epub 2009 Apr 20.

35.

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

Costello DJ, Sims KB.

Neurology. 2009 Apr 7;72(14):1279-80. doi: 10.1212/01.wnl.0000345663.71421.1d. No abstract available.

PMID:
19349610
36.

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

Olivova P, van der Veen K, Cullen E, Rose M, Zhang XK, Sims KB, Keutzer J, Browning MF.

Clin Chim Acta. 2009 May;403(1-2):159-62. doi: 10.1016/j.cca.2009.02.008. Epub 2009 Feb 24.

PMID:
19245803
37.

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

Staley KJ, Sims KB, Grant PE, Hedley-Whyte ET.

N Engl J Med. 2008 Sep 11;359(11):1156-67. doi: 10.1056/NEJMcpc0804642. No abstract available.

PMID:
18784106
38.

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

Bodensteiner D, Scott CR, Sims KB, Shepherd GM, Cintron RD, Germain DP.

Genet Med. 2008 May;10(5):353-8. doi: 10.1097/GIM.0b013e318170f868.

PMID:
18496035
39.

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

Freeman SH, Hyman BT, Sims KB, Hedley-Whyte ET, Vossough A, Frosch MP, Schmahmann JD.

Brain Pathol. 2009 Jan;19(1):39-47. doi: 10.1111/j.1750-3639.2008.00163.x. Epub 2008 Apr 15.

40.

Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study.

Sims KB, Pastores GM, Weinreb NJ, Barranger J, Rosenbloom BE, Packman S, Kaplan P, Mankin H, Xavier R, Angell J, Fitzpatrick MA, Rosenthal D.

Clin Genet. 2008 May;73(5):430-40. doi: 10.1111/j.1399-0004.2008.00978.x. Epub 2008 Feb 27.

41.

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

Gregory SA, MacRae CA, Aziz K, Sims KB, Schmahmann JD, Kardan A, Morss AM, Ellinor PT, Tawakol A, Fischman AJ, Gewirtz H.

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

PMID:
17172925
42.

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

Venna N, Sims KB, Grant PE.

N Engl J Med. 2006 Aug 24;355(8):831-9. No abstract available.

PMID:
16928999
43.

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

Mankin HJ, Sims KB, Bove CM.

Am J Orthop (Belle Mead NJ). 2005 Aug;34(8):393-5. No abstract available.

PMID:
16187731
44.

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

Ahn MS, Sims KB, Frazier JA.

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

PMID:
16092915
45.

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

Andersen PM, Sims KB, Xin WW, Kiely R, O'Neill G, Ravits J, Pioro E, Harati Y, Brower RD, Levine JS, Heinicke HU, Seltzer W, Boss M, Brown RH Jr.

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

PMID:
14506936
46.

Von Hippel-Lindau disease: gene to bedside.

Sims KB.

Curr Opin Neurol. 2001 Dec;14(6):695-703. Review.

PMID:
11723376
47.

Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, De Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB.

Genet Test. 1999;3(4):323-8.

PMID:
10627938
48.

Quality of life assessment in adults with type 1 Gaucher disease.

Masek BJ, Sims KB, Bove CM, Korson MS, Short P, Norman DK.

Qual Life Res. 1999 May;8(3):263-8.

PMID:
10472157
49.

Screen for MAOA mutations in target human groups.

Schuback DE, Mulligan EL, Sims KB, Tivol EA, Greenberg BD, Chang SF, Yang SL, Mau YC, Shen CY, Ho MS, Yang NH, Butler MG, Fink S, Schwartz CE, Berlin F, Breakefield XO, Murphy DL, Hsu YP.

Am J Med Genet. 1999 Feb 5;88(1):25-8.

50.

Norrie disease in a family with a manifesting female carrier.

Sims KB, Irvine AR, Good WV.

Arch Ophthalmol. 1997 Apr;115(4):517-9.

PMID:
9109762

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