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Items: 1 to 50 of 194

1.

Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy.

Argov Z, Bronstein F, Esposito A, Feinsod-Meiri Y, Florence JM, Fowler E, Greenberg MB, Malkus EC, Rebibo O, Siener CS, Caraco Y, Kolodny EH, Lau HA, Pestronk A, Shieh P, Skrinar AM, Mayhew JE.

J Clin Neuromuscul Dis. 2017 Sep;19(1):19-26. doi: 10.1097/CND.0000000000000181.

2.

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Mistry PK, Batista JL, Andersson HC, Balwani M, Burrow TA, Charrow J, Kaplan P, Khan A, Kishnani PS, Kolodny EH, Rosenbloom B, Scott CR, Weinreb N.

Am J Hematol. 2017 Sep;92(9):929-939. doi: 10.1002/ajh.24801. Epub 2017 Jul 7.

3.

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.

El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):47-56. doi: 10.1016/j.ymgme.2016.12.001. Epub 2016 Dec 6.

4.

Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues.

Desnick RJ, Barton NW, Furbish S, Grabowski GA, Karlsson S, Kolodny EH, Medin JA, Murray GJ, Mistry PK, Patterson MC, Schiffmann R, Weinreb NJ.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):1-7. doi: 10.1016/j.ymgme.2016.10.010. Epub 2016 Nov 12.

PMID:
27866832
5.

Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population.

Tatlisumak T, Putaala J, Innilä M, Enzinger C, Metso TM, Curtze S, von Sarnowski B, Amaral-Silva A, Jungehulsing GJ, Tanislav C, Thijs V, Rolfs A, Norrving B, Fazekas F, Suomalainen A, Kolodny EH.

J Neurol. 2016 Feb;263(2):257-262. doi: 10.1007/s00415-015-7969-z. Epub 2015 Nov 14.

PMID:
26566914
6.

Skeletal Muscle in Healthy Subjects versus Those with GNE-Related Myopathy: Evaluation with Shear-Wave US--A Pilot Study.

Carpenter EL, Lau HA, Kolodny EH, Adler RS.

Radiology. 2015 Nov;277(2):546-54. doi: 10.1148/radiol.2015142212. Epub 2015 Jun 2.

PMID:
26035587
7.

GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization.

Muthupalani S, Torres PA, Wang BC, Zeng BJ, Eaton S, Erdelyi I, Ducore R, Maganti R, Keating J, Perry BJ, Tseng FS, Waliszewski N, Pokras M, Causey R, Seger R, March P, Tidwell A, Pfannl R, Seyfried T, Kolodny EH, Alroy J.

Mol Genet Metab. 2014 Apr;111(4):513-21. doi: 10.1016/j.ymgme.2014.02.002. Epub 2014 Feb 13.

PMID:
24581871
8.

GM2 gangliosidosis in British Jacob sheep.

Wessels ME, Holmes JP, Jeffrey M, Jackson M, Mackintosh A, Kolodny EH, Zeng BJ, Wang CB, Scholes SF.

J Comp Pathol. 2014 Feb-Apr;150(2-3):253-7. doi: 10.1016/j.jcpa.2013.10.003. Epub 2013 Oct 23.

PMID:
24309906
9.

Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?

Böttcher T, Rolfs A, Tanislav C, Bitsch A, Köhler W, Gaedeke J, Giese AK, Kolodny EH, Duning T.

PLoS One. 2013 Aug 28;8(8):e71894. doi: 10.1371/journal.pone.0071894. eCollection 2013.

10.

Long-term follow-up after gene therapy for canavan disease.

Leone P, Shera D, McPhee SW, Francis JS, Kolodny EH, Bilaniuk LT, Wang DJ, Assadi M, Goldfarb O, Goldman HW, Freese A, Young D, During MJ, Samulski RJ, Janson CG.

Sci Transl Med. 2012 Dec 19;4(165):165ra163. doi: 10.1126/scitranslmed.3003454.

11.

Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase.

Pierson TM, Torres PA, Zeng BJ, Glanzman AM, Adams D, Finkel RS, Mahuran DJ, Pastores GM, Tennekoon GI, Kolodny EH.

Mol Genet Metab. 2013 Jan;108(1):65-9. doi: 10.1016/j.ymgme.2012.10.023. Epub 2012 Nov 2.

13.

Metronomic breathing shows altered parasympathetic baroreflex function in untreated Fabry patients and baroreflex improvement after enzyme replacement therapy.

Hilz MJ, Koehn J, Kolodny EH, Brys M, Moeller S, Stemper B.

J Hypertens. 2011 Dec;29(12):2387-94. doi: 10.1097/HJH.0b013e32834c31db.

PMID:
21970939
14.

The enigma of the E326K mutation in acid β-glucocerebrosidase.

Horowitz M, Pasmanik-Chor M, Ron I, Kolodny EH.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):35-8. doi: 10.1016/j.ymgme.2011.07.002. Epub 2011 Jul 12. Review.

PMID:
21831682
15.

Pathology of GM2 gangliosidosis in Jacob sheep.

Porter BF, Lewis BC, Edwards JF, Alroy J, Zeng BJ, Torres PA, Bretzlaff KN, Kolodny EH.

Vet Pathol. 2011 Jul;48(4):807-13. doi: 10.1177/0300985810388522. Epub 2010 Dec 1.

PMID:
21123862
16.

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).

Clarke JT, Mahuran DJ, Sathe S, Kolodny EH, Rigat BA, Raiman JA, Tropak MB.

Mol Genet Metab. 2011 Jan;102(1):6-12. doi: 10.1016/j.ymgme.2010.09.004. Epub 2010 Sep 17.

17.

Tay-Sachs disease in Jacob sheep.

Torres PA, Zeng BJ, Porter BF, Alroy J, Horak F, Horak J, Kolodny EH.

Mol Genet Metab. 2010 Dec;101(4):357-63. doi: 10.1016/j.ymgme.2010.08.006. Epub 2010 Aug 14.

PMID:
20817517
18.

Vitamin B12-responsive severe leukoencephalopathy and autonomic dysfunction in a patient with "normal" serum B12 levels.

Graber JJ, Sherman FT, Kaufmann H, Kolodny EH, Sathe S.

J Neurol Neurosurg Psychiatry. 2010 Dec;81(12):1369-71. doi: 10.1136/jnnp.2009.178657. Epub 2010 Jun 28.

PMID:
20587489
19.

Enzyme replacement therapy improves cardiovascular responses to orthostatic challenge in Fabry patients.

Hilz MJ, Marthol H, Schwab S, Kolodny EH, Brys M, Stemper B.

J Hypertens. 2010 Jul;28(7):1438-48. doi: 10.1097/HJH.0b013e328336a077.

PMID:
20125036
20.
21.

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment.

Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH.

Genet Med. 2009 Jun;11(6):425-33. doi: 10.1097/GIM.0b013e3181a1b5c5.

PMID:
19346952
22.

Newborn screening for Krabbe disease: the New York State model.

Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP.

Pediatr Neurol. 2009 Apr;40(4):245-52; discussion 253-5. doi: 10.1016/j.pediatrneurol.2008.11.010.

PMID:
19302934
23.

Acute confusional migraine may be a presenting feature of CADASIL.

Sathe S, DePeralta E, Pastores G, Kolodny EH.

Headache. 2009 Apr;49(4):590-6. doi: 10.1111/j.1526-4610.2009.01363.x. Epub 2009 Feb 25.

PMID:
19245392
24.

Re: Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study.

Shapiro BE, Kolodny EH, Pastores GM, Luzy C.

J Inherit Metab Dis. 2009 Apr;32(2):310-1. doi: 10.1007/s10545-009-9966-9. No abstract available.

PMID:
19240988
25.

Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.

Fattal-Valevski A, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM.

J Child Neurol. 2009 May;24(5):618-24. doi: 10.1177/0883073808327833. Epub 2009 Jan 16.

PMID:
19151366
26.

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.

Clarke LA, Wraith JE, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Sidman M, Kakkis ED, Cox GF.

Pediatrics. 2009 Jan;123(1):229-40. doi: 10.1542/peds.2007-3847.

PMID:
19117887
27.

Spontaneous appearance of Tay-Sachs disease in an animal model.

Zeng BJ, Torres PA, Viner TC, Wang ZH, Raghavan SS, Alroy J, Pastores GM, Kolodny EH.

Mol Genet Metab. 2008 Sep-Oct;95(1-2):59-65. doi: 10.1016/j.ymgme.2008.06.010. Epub 2008 Aug 9.

PMID:
18693054
28.

Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients.

Shapiro BE, Logigian EL, Kolodny EH, Pastores GM.

Muscle Nerve. 2008 Aug;38(2):1012-5. doi: 10.1002/mus.21061.

PMID:
18642377
29.

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

Kroos MA, Mullaart RA, Van Vliet L, Pomponio RJ, Amartino H, Kolodny EH, Pastores GM, Wevers RA, Van der Ploeg AT, Halley DJ, Reuser AJ.

Eur J Hum Genet. 2008 Aug;16(8):875-9. doi: 10.1038/ejhg.2008.34. Epub 2008 Feb 27.

30.

Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.

Zia A, Kolodny EH, Pastores GM.

J Inherit Metab Dis. 2007 Oct;30(5):817. Epub 2007 May 19.

PMID:
17514507
31.

Leukodystrophies: clinical and genetic aspects.

Lyon G, Fattal-Valevski A, Kolodny EH.

Top Magn Reson Imaging. 2006 Aug;17(4):219-42. Review.

PMID:
17414998
32.

Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Wang ZH, Torres PA, Pastores GM, Leone P, Raghavan SS, Kolodny EH.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):156-63. Epub 2006 Jul 18.

PMID:
16854607
33.

Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Pastores GM, Leone P, Raghavan S, Wang ZH, Ribeiro LA, Torres P, Ong E, Kolodny EH.

Adv Exp Med Biol. 2006;576:165-73; discussion 361-3. No abstract available.

PMID:
16802711
34.

CNS pathology and vascular/circulatory abnormalities in Fabry disease.

Kolodny EH, Pastores GM.

Acta Paediatr Suppl. 2006 Apr;95(451):55-6. No abstract available.

PMID:
16720466
35.

Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.

Janson CG, Kolodny EH, Zeng BJ, Raghavan S, Pastores G, Torres P, Assadi M, McPhee S, Goldfarb O, Saslow B, Freese A, Wang DJ, Bilaniuk L, Shera D, Leone P.

Ann Neurol. 2006 Feb;59(2):428-31.

PMID:
16437572
36.

Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations.

Raghavan S, Zeng B, Torres PA, Pastores GM, Kolodny EH, Kurtzberg J, Krivit W.

J Inherit Metab Dis. 2005;28(6):1005-9.

PMID:
16435193
37.
38.

MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis.

Inglese M, Nusbaum AO, Pastores GM, Gianutsos J, Kolodny EH, Gonen O.

AJNR Am J Neuroradiol. 2005 Sep;26(8):2037-42.

39.

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH.

Genet Med. 2005 Feb;7(2):119-23.

PMID:
15714079
40.

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.

Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakash-Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymańska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A; International Collaborative Gaucher Group (ICGG).

Semin Hematol. 2004 Oct;41(4 Suppl 5):15-22. Erratum in: Semin Hematol. 2005 Jul;42(3):179. Prakesh-Cheng, Ainu [corrected to Prakash-Cheng, Ainu].

PMID:
15468046
41.

Neuropsychological assessment of patients with late onset GM2 gangliosidosis.

Zaroff CM, Neudorfer O, Morrison C, Pastores GM, Rubin H, Kolodny EH.

Neurology. 2004 Jun 22;62(12):2283-6.

PMID:
15210895
42.

Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease.

Hilz MJ, Kolodny EH, Brys M, Stemper B, Haendl T, Marthol H.

J Neurol. 2004 May;251(5):564-70.

PMID:
15164189
43.

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Swiedler SJ, Kakkis ED, Braakman T, Chadbourne E, Walton-Bowen K, Cox GF.

J Pediatr. 2004 May;144(5):581-8.

PMID:
15126990
44.

Late-onset Tay-Sachs disease.

Neudorfer O, Kolodny EH.

Isr Med Assoc J. 2004 Feb;6(2):107-11. No abstract available.

45.

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.

Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ.

J Pediatr. 2004 Jan;144(1):112-20. Review. No abstract available.

PMID:
14722528
46.

A neurological symptom survey of patients with type I Gaucher disease.

Pastores GM, Barnett NL, Bathan P, Kolodny EH.

J Inherit Metab Dis. 2003;26(7):641-5.

PMID:
14707512
47.

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.

J Inherit Metab Dis. 2002 Nov;25(7):557-70.

PMID:
12638939
48.

Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson's disease.

Wang ZH, Ji Y, Shan W, Zeng B, Raksadawan N, Pastores GM, Wisniewski T, Kolodny EH.

Neuroscience. 2002;113(3):629-40.

PMID:
12150782
49.

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.

Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A.

Am J Med. 2002 Aug 1;113(2):112-9.

PMID:
12133749
50.

Anderson-Fabry disease: extrarenal, neurologic manifestations.

Kolodny EH, Pastores GM.

J Am Soc Nephrol. 2002 Jun;13 Suppl 2:S150-3. Review. No abstract available.

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