| Year |
Citation |
Score |
| 2017 |
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. Transformation in Pre-treatment Manifestations of Gaucher Disease Type 1 during Two Decades of Alglucerase/Imiglucerase Enzyme Replacement Therapy in the International Collaborative Gaucher Group (ICGG) Registry. American Journal of Hematology. PMID 28569047 DOI: 10.1002/Ajh.24801 |
0.318 |
|
| 2016 |
El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK. 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. Molecular Genetics and Metabolism. PMID 28040394 DOI: 10.1016/J.Ymgme.2016.12.001 |
0.362 |
|
| 2016 |
Desnick RJ, Barton NW, Furbish S, Grabowski GA, Karlsson S, Kolodny EH, Medin JA, Murray GJ, Mistry PK, Patterson MC, Schiffmann R, Weinreb NJ. Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues. Molecular Genetics and Metabolism. PMID 27866832 DOI: 10.1016/J.Ymgme.2016.10.010 |
0.31 |
|
| 2016 |
Tatlisumak T, Putaala J, Innilä M, Enzinger C, Metso TM, Curtze S, Sarnowski Bv, Amaral-Silva A, Jungehulsing GJ, Tanislav C, Thijs VN, Rolfs A, Norrving B, Fazekas F, Suomalainen A, ... Kolodny EH, et al. Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population. Journal of Neurology. 263: 257-262. PMID 26566914 DOI: 10.1007/S00415-015-7969-Z |
0.341 |
|
| 2015 |
Kolodny E, Fellgiebel A, Hilz MJ, Sims K, Caruso P, Phan TG, Politei J, Manara R, Burlina A. Cerebrovascular involvement in Fabry disease: current status of knowledge. Stroke; a Journal of Cerebral Circulation. 46: 302-13. PMID 25492902 DOI: 10.1161/Strokeaha.114.006283 |
0.36 |
|
| 2014 |
Wessels ME, Holmes JP, Jeffrey M, Jackson M, Mackintosh A, Kolodny EH, Zeng BJ, Wang CB, Scholes SF. GM2 gangliosidosis in British Jacob sheep. Journal of Comparative Pathology. 150: 253-7. PMID 24309906 DOI: 10.1016/J.Jcpa.2013.10.003 |
0.381 |
|
| 2013 |
Böttcher T, Rolfs A, Tanislav C, Bitsch A, Köhler W, Gaedeke J, Giese AK, Kolodny EH, Duning T. Fabry disease - underestimated in the differential diagnosis of multiple sclerosis? Plos One. 8: e71894. PMID 24015197 DOI: 10.1371/Journal.Pone.0071894 |
0.336 |
|
| 2013 |
Pierson TM, Torres PA, Zeng BJ, Glanzman AM, Adams D, Finkel RS, Mahuran DJ, Pastores GM, Tennekoon GI, Kolodny EH. Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase. Molecular Genetics and Metabolism. 108: 65-9. PMID 23158871 DOI: 10.1016/J.Ymgme.2012.10.023 |
0.326 |
|
| 2012 |
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. Long-term follow-up after gene therapy for canavan disease. Science Translational Medicine. 4: 165ra163. PMID 23253610 DOI: 10.1126/Scitranslmed.3003454 |
0.344 |
|
| 2012 |
Flint D, Li R, Webster LS, Naidu S, Kolodny E, Percy A, van der Knaap M, Powers JM, Mantovani JF, Ekstein J, Goldman JE, Messing A, Brenner M. Splice site, frameshift, and chimeric GFAP mutations in Alexander disease. Human Mutation. 33: 1141-8. PMID 22488673 DOI: 10.1002/Humu.22094 |
0.346 |
|
| 2012 |
Mistry P, Kolodny E, Tylki-Szymanska A, Belmatoug N, Cabello J, Vellodi A, Cole JA, Grabowski G. Phenotypic Spectrum of Hematological and Visceral Disease in Type 3 Gaucher Disease and Response to Imiglucerase Therapy: Preliminary Analysis from the ICGG Gaucher Registry Molecular Genetics and Metabolism. 105. DOI: 10.1016/J.Ymgme.2011.11.115 |
0.335 |
|
| 2011 |
Horowitz M, Pasmanik-Chor M, Ron I, Kolodny EH. The enigma of the E326K mutation in acid β-glucocerebrosidase. Molecular Genetics and Metabolism. 104: 35-8. PMID 21831682 DOI: 10.1016/J.Ymgme.2011.07.002 |
0.348 |
|
| 2011 |
Velayati A, DePaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E. A mutation in SCARB2 is a modifier in Gaucher disease. Human Mutation. 32: 1232-8. PMID 21796727 DOI: 10.1002/Humu.21566 |
0.326 |
|
| 2011 |
Porter BF, Lewis BC, Edwards JF, Alroy J, Zeng BJ, Torres PA, Bretzlaff KN, Kolodny EH. Pathology of GM2 gangliosidosis in Jacob sheep. Veterinary Pathology. 48: 807-13. PMID 21123862 DOI: 10.1177/0300985810388522 |
0.342 |
|
| 2011 |
Rosenbloom B, Balwani M, Bronstein JM, Kolodny E, Sathe S, Gwosdow AR, Taylor JS, Cole JA, Zimran A, Weinreb NJ. The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry. Blood Cells, Molecules & Diseases. 46: 95-102. PMID 21067946 DOI: 10.1016/J.Bcmd.2010.10.006 |
0.36 |
|
| 2011 |
Clarke JT, Mahuran DJ, Sathe S, Kolodny EH, Rigat BA, Raiman JA, Tropak MB. 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). Molecular Genetics and Metabolism. 102: 6-12. PMID 20926324 DOI: 10.1016/J.Ymgme.2010.09.004 |
0.341 |
|
| 2010 |
Torres PA, Zeng BJ, Porter BF, Alroy J, Horak F, Horak J, Kolodny EH. Tay-Sachs disease in Jacob sheep. Molecular Genetics and Metabolism. 101: 357-63. PMID 20817517 DOI: 10.1016/J.Ymgme.2010.08.006 |
0.352 |
|
| 2010 |
Hilz MJ, Marthol H, Schwab S, Kolodny EH, Brys M, Stemper B. Enzyme replacement therapy improves cardiovascular responses to orthostatic challenge in Fabry patients. Journal of Hypertension. 28: 1438-48. PMID 20125036 DOI: 10.1097/Hjh.0B013E328336A077 |
0.311 |
|
| 2010 |
Tylki-Szymańska A, Vellodi A, El-Beshlawy A, Cole JA, Kolodny E. Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry. Journal of Inherited Metabolic Disease. 33: 339-46. PMID 20084461 DOI: 10.1007/S10545-009-9009-6 |
0.345 |
|
| 2010 |
Raymond GV, Seidman R, Monteith TS, Kolodny E, Sathe S, Mahmood A, Powers JM. Head trauma can initiate the onset of adreno-leukodystrophy. Journal of the Neurological Sciences. 290: 70-4. PMID 19945717 DOI: 10.1016/J.Jns.2009.11.005 |
0.334 |
|
| 2009 |
Vellodi A, Tylki-Szymanska A, Davies EH, Kolodny E, Bembi B, Collin-Histed T, Mengel E, Erikson A, Schiffmann R. Management of neuronopathic Gaucher disease: revised recommendations. Journal of Inherited Metabolic Disease. 32: 660-664. PMID 19655269 DOI: 10.1007/S10545-009-1164-2 |
0.317 |
|
| 2009 |
Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH. Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 11: 425-33. PMID 19346952 DOI: 10.1097/Gim.0B013E3181A1B5C5 |
0.31 |
|
| 2009 |
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, ... ... Kolodny EH, et al. Newborn screening for Krabbe disease: the New York State model. Pediatric Neurology. 40: 245-52; discussion 2. PMID 19302934 DOI: 10.1016/J.Pediatrneurol.2008.11.010 |
0.342 |
|
| 2009 |
Sathe S, DePeralta E, Pastores G, Kolodny EH. Acute confusional migraine may be a presenting feature of CADASIL. Headache. 49: 590-6. PMID 19245392 DOI: 10.1111/J.1526-4610.2009.01363.X |
0.325 |
|
| 2009 |
Shapiro BE, Kolodny EH, Pastores GM, Luzy C. Re: Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study. Journal of Inherited Metabolic Disease. 32: 310-1. PMID 19240988 DOI: 10.1007/S10545-009-9966-9 |
0.318 |
|
| 2009 |
Fattal-Valevski A, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM. Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease. Journal of Child Neurology. 24: 618-24. PMID 19151366 DOI: 10.1177/0883073808327833 |
0.351 |
|
| 2008 |
Zeng BJ, Torres PA, Viner TC, Wang ZH, Raghavan SS, Alroy J, Pastores GM, Kolodny EH. Spontaneous appearance of Tay-Sachs disease in an animal model. Molecular Genetics and Metabolism. 95: 59-65. PMID 18693054 DOI: 10.1016/J.Ymgme.2008.06.010 |
0.332 |
|
| 2008 |
Shapiro BE, Logigian EL, Kolodny EH, Pastores GM. Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients. Muscle & Nerve. 38: 1012-5. PMID 18642377 DOI: 10.1002/Mus.21061 |
0.342 |
|
| 2008 |
Paciorkowski AR, Sathe S, Zeng BJ, Torres P, Rosengren SS, Kolodny E. Juvenile-onset G(M2)-gangliosidosis in an African-American child with nystagmus. Pediatric Neurology. 38: 284-6. PMID 18358410 DOI: 10.1016/J.Pediatrneurol.2007.12.004 |
0.348 |
|
| 2008 |
Hilz MJ, Kolodny EH, Marthol H. Enzyme replacement therapy decreases forearm and hand compliance in Fabry disease Aktuelle Neurologie. 35: 446. DOI: 10.1055/S-0028-1086700 |
0.303 |
|
| 2008 |
Sathe S, Basturk O, Miller D, Greco MA, Potaznik D, Pastores G, Kolodny E. 80. Homozygosity for a tandem mutation (D409H and H255Q) leads to acute neuronopathic Gaucher disease Molecular Genetics and Metabolism. 93: 34-35. DOI: 10.1016/J.Ymgme.2007.10.092 |
0.322 |
|
| 2008 |
Pierson TM, Zeng BJ, Torres P, Pastores G, Finkel R, Mahuran D, Kolodny E, Tennekoon G. 74. Novel mutations in juvenile Sandhoff disease presenting as motor neuron disease Molecular Genetics and Metabolism. 93: 33. DOI: 10.1016/J.Ymgme.2007.10.086 |
0.33 |
|
| 2008 |
Kolodny E, Vellodi A, El-Beshlawy A, Cole JA, Tylki-Szymanski A. 54. Clinical and demographic characteristics of 131 patients with neuronopathic Gaucher disease enrolled in the Neurological Outcomes Sub-Registry of the ICGG Gaucher Registry Molecular Genetics and Metabolism. 93: 27. DOI: 10.1016/J.Ymgme.2007.10.066 |
0.315 |
|
| 2007 |
Kolodny EH, Pastores GM. CNS pathology and vascular/circulatory abnormalities in Fabry disease: Commentary Acta Paediatrica. 95: 55-56. DOI: 10.1111/J.1651-2227.2006.Tb02390.X |
0.324 |
|
| 2006 |
Lyon G, Fattal-Valevski A, Kolodny EH. Leukodystrophies: clinical and genetic aspects. Topics in Magnetic Resonance Imaging : Tmri. 17: 219-42. PMID 17414998 DOI: 10.1097/Rmr.0B013E31804C99D4 |
0.339 |
|
| 2006 |
Zeng BJ, Wang ZH, Torres PA, Pastores GM, Leone P, Raghavan SS, Kolodny EH. Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease. Molecular Genetics and Metabolism. 89: 156-63. PMID 16854607 DOI: 10.1016/J.Ymgme.2006.05.014 |
0.317 |
|
| 2006 |
Zeng BJ, Pastores GM, Leone P, Raghavan S, Wang ZH, Ribeiro LA, Torres P, Ong E, Kolodny EH. Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease. Advances in Experimental Medicine and Biology. 576: 165-73; discussion 3. PMID 16802711 DOI: 10.1007/0-387-30172-0_11 |
0.343 |
|
| 2006 |
Kolodny EH, Pastores GM. CNS pathology and vascular/circulatory abnormalities in Fabry disease. Acta Paediatrica (Oslo, Norway : 1992). Supplement. 95: 55-6. PMID 16720466 DOI: 10.1080/08035320600619153 |
0.323 |
|
| 2006 |
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. Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene. Annals of Neurology. 59: 428-31. PMID 16437572 DOI: 10.1002/Ana.20787 |
0.372 |
|
| 2006 |
Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, Kolodny E, Szigeti K, Fischer RA, Saifi GM, Scherer SS, Lupski JR. T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Annals of Neurology. 59: 358-64. PMID 16437560 DOI: 10.1002/Ana.20777 |
0.328 |
|
| 2005 |
Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 7: 119-23. PMID 15714079 DOI: 10.1097/01.Gim.0000154300.84107.75 |
0.409 |
|
| 2004 |
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, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Seminars in Hematology. 41: 15-22. PMID 15468046 DOI: 10.1053/J.Seminhematol.2004.07.010 |
0.364 |
|
| 2004 |
Zaroff CM, Neudorfer O, Morrison C, Pastores GM, Rubin H, Kolodny EH. Neuropsychological assessment of patients with late onset GM2 gangliosidosis. Neurology. 62: 2283-6. PMID 15210895 DOI: 10.1212/01.Wnl.0000130498.19019.02 |
0.305 |
|
| 2003 |
Pastores GM, Barnett NL, Bathan P, Kolodny EH. A neurological symptom survey of patients with type I Gaucher disease. Journal of Inherited Metabolic Disease. 26: 641-5. PMID 14707512 DOI: 10.1023/B:Boli.0000005623.60471.51 |
0.36 |
|
| 2002 |
Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH. Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. Journal of Inherited Metabolic Disease. 25: 557-70. PMID 12638939 DOI: 10.1023/A:1022091223498 |
0.326 |
|
| 2002 |
Janson C, McPhee S, Bilaniuk L, Haselgrove J, Testaiuti M, Freese A, Wang DJ, Shera D, Hurh P, Rupin J, Saslow E, Goldfarb O, Goldberg M, Larijani G, Sharrar W, ... ... Kolodny E, et al. Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain. Human Gene Therapy. 13: 1391-412. PMID 12162821 DOI: 10.1089/104303402760128612 |
0.335 |
|
| 2002 |
Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A. 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. The American Journal of Medicine. 113: 112-9. PMID 12133749 DOI: 10.1016/S0002-9343(02)01150-6 |
0.321 |
|
| 2002 |
Kolodny EH, Pastores GM. Anderson-Fabry disease: extrarenal, neurologic manifestations. Journal of the American Society of Nephrology : Jasn. 13: S150-3. PMID 12068029 DOI: 10.1097/01.Asn.0000015239.57436.18 |
0.385 |
|
| 2001 |
Kolodny EH. Molecular genetics of the beta-hexosaminidase isoenzymes: an introduction. Advances in Genetics. 44: 101-26. PMID 11596976 DOI: 10.1016/S0065-2660(01)44074-0 |
0.348 |
|
| 2001 |
Wang ZH, Zeng B, Pastores GM, Raksadawan N, Ong E, Kolodny EH. Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. Genetic Testing. 5: 87-92. PMID 11551108 DOI: 10.1089/109065701753145529 |
0.307 |
|
| 2000 |
Hobson GM, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG. Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease. Neurology. 55: 1089-96. PMID 11071483 DOI: 10.1212/Wnl.55.8.1089 |
0.321 |
|
| 2000 |
Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Archives of Internal Medicine. 160: 2835-43. PMID 11025794 DOI: 10.1001/Archinte.160.18.2835 |
0.353 |
|
| 2000 |
Kolodny EH. Niemann-Pick disease. Current Opinion in Hematology. 7: 48-52. PMID 10608504 DOI: 10.1097/00062752-200001000-00009 |
0.333 |
|
| 1999 |
De Gasperi R, Gama Sosa MA, Sartorato E, Battistini S, Raghavan S, Kolodny EH. Molecular basis of late-life globoid cell leukodystrophy. Human Mutation. 14: 256-62. PMID 10477434 DOI: 10.1002/(Sici)1098-1004(1999)14:3<256::Aid-Humu9>3.0.Co;2-6 |
0.345 |
|
| 1999 |
Beutler E, Charrow J, Esplin JA, Kaplan P, Kolodny EH, Pastores GM, Scott CR, Wappner RS, Weinreb NJ, Wisch JS. Gaucher disease [1] (multiple letters) Jama Internal Medicine. 159: 881-882. PMID 10219937 DOI: 10.1001/Archinte.159.8.881 |
0.334 |
|
| 1998 |
Charrow J, Esplin JA, Gribble TJ, Kaplan P, Kolodny EH, Pastores GM, Scott CR, Wappner RS, Weinreb NJ, Wisch JS. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Archives of Internal Medicine. 158: 1754-60. PMID 9738604 DOI: 10.1001/Archinte.158.16.1754 |
0.367 |
|
| 1998 |
Kolodny EH. [Mucolipidosis: clinical and genetic aspects]. Revista De Neurologia. 27: 337-41. PMID 9736966 DOI: 10.33588/Rn.27156.98433 |
0.353 |
|
| 1998 |
Krivit W, Shapiro EG, Peters C, Wagner JE, Cornu G, Kurtzberg J, Wenger DA, Kolodny EH, Vanier MT, Loes DJ, Dusenbery K, Lockman LA. Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. The New England Journal of Medicine. 338: 1119-26. PMID 9545360 DOI: 10.1056/Nejm199804163381605 |
0.323 |
|
| 1997 |
Marks HG, Scavina MT, Kolodny EH, Palmieri M, Childs J. Krabbe's disease presenting as a peripheral neuropathy. Muscle & Nerve. 20: 1024-8. PMID 9236794 DOI: 10.1002/(Sici)1097-4598(199708)20:8<1024::Aid-Mus13>3.0.Co;2-V |
0.341 |
|
| 1997 |
Bernardini GL, Herrera DG, Carson D, DeGasperi R, Gama Sosa MA, Kolodny EH, Trifiletti R. Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene. Annals of Neurology. 41: 111-4. PMID 9005874 DOI: 10.1002/Ana.410410119 |
0.379 |
|
| 1996 |
Zelnik N, Dobyns WB, Forem SL, Kolodny EH. Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. Neuroradiology. 38: 684-7. PMID 8912329 DOI: 10.1007/S002340050334 |
0.339 |
|
| 1996 |
De Gasperi R, Gama Sosa MA, Battistini S, Yeretsian J, Raghavan S, Zelnik N, Leshinsky E, Kolodny EH. Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene. Neurology. 47: 547-52. PMID 8757036 DOI: 10.1212/Wnl.47.2.547 |
0.314 |
|
| 1996 |
Gama Sosa MA, de Gasperi R, Undevia S, Yeretsian J, Rouse SC, Lyerla TA, Kolodny EH. Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer. Biochemical and Biophysical Research Communications. 218: 766-71. PMID 8579588 DOI: 10.1006/Bbrc.1996.0136 |
0.335 |
|
| 1995 |
Dogali M, Berić A, Sterio D, Eidelberg D, Fazzini E, Takikawa S, Samelson DR, Devinsky O, Kolodny EH. Anatomic and physiological considerations in pallidotomy for Parkinson's disease. Acta Neurochirurgica. Supplement. 64: 9-12. PMID 8748575 DOI: 10.1007/978-3-7091-9419-5_3 |
0.318 |
|
| 1995 |
Dogali M, Fazzini E, Kolodny E, Eidelberg D, Sterio D, Devinsky O, Berić A. Stereotactic ventral pallidotomy for Parkinson's disease. Neurology. 45: 753-61. PMID 7723966 DOI: 10.1212/Wnl.45.4.753 |
0.303 |
|
| 1992 |
Wiederschain G, Srinivasa R, Kolodny E. Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-β-D-galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease Clinica Chimica Acta. 205: 87-96. PMID 1521344 DOI: 10.1016/S0009-8981(05)80003-8 |
0.339 |
|
| 1992 |
Kaye EM, Ullman MD, Kolodny EH, Krivit W, Rischert JC. Possible use of CSF glycosphingolipids for the diagnosis and therapeutic monitoring of lysosomal storage diseases. Neurology. 42: 2290-4. PMID 1461381 DOI: 10.1212/Wnl.42.12.2290 |
0.339 |
|
| 1992 |
Fernandes M, Kaplan F, Natowicz M, Prence E, Kolodny E, Kaback M, Hachtman P. A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. Human Molecular Genetics. 1: 759-761. PMID 1302612 DOI: 10.1093/Hmg/1.9.759 |
0.31 |
|
| 1991 |
Levy H, Or A, Eyal N, Wilder S, Widgerson M, Kolodny EH, Zimran A, Horowitz M. Molecular aspects of Gaucher disease. Developmental Neuroscience. 13: 352-62. PMID 1817042 DOI: 10.1159/000112185 |
0.342 |
|
| 1991 |
Kolodny EH, Raghavan S, Krivit W. Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. Developmental Neuroscience. 13: 232-9. PMID 1817026 DOI: 10.1159/000112166 |
0.35 |
|
| 1990 |
Triggs-Raine BL, Feigenbaum AS, Natowicz M, Skomorowski MA, Schuster SM, Clarke JT, Mahuran DJ, Kolodny EH, Gravel RA. Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests. The New England Journal of Medicine. 323: 6-12. PMID 2355960 DOI: 10.1056/Nejm199007053230102 |
0.325 |
|
| 1989 |
Kolodny EH. Agenesis of the corpus callosum: a marker for inherited metabolic disease? Neurology. 39: 847-8. PMID 2725881 DOI: 10.1212/Wnl.39.6.847 |
0.313 |
|
| 1989 |
Alroy J, Warren CD, Raghavan SS, Kolodny EH. Animal models for lysosomal storage diseases: their past and future contribution. Human Pathology. 20: 823-6. PMID 2673978 DOI: 10.1016/0046-8177(89)90091-9 |
0.3 |
|
| 1988 |
Boustany RM, Alroy J, Kolodny EH. Clinical classification of neuronal ceroid-lipofuscinosis subtypes. American Journal of Medical Genetics. Supplement. 5: 47-58. PMID 3146329 DOI: 10.1002/Ajmg.1320310608 |
0.342 |
|
| 1988 |
Pueschel SM, O'Shea PA, Alroy J, Ambler MW, Dangond F, Daniel PF, Kolodny EH. Infantile sialic acid storage disease associated with renal disease. Pediatric Neurology. 4: 207-12. PMID 3072006 DOI: 10.1016/0887-8994(88)90032-X |
0.326 |
|
| 1986 |
Wolfe LS, Palo J, Santavuori P, Andermann F, Andermann E, Jacob JC, Kolodny E. Urinary sediment dolichols in the diagnosis of neuronal ceroid-lipofuscinosis. Annals of Neurology. 19: 270-4. PMID 3963771 DOI: 10.1002/Ana.410190308 |
0.336 |
|
| 1986 |
Matthews JD, Weiter JJ, Kolodny EH. Macular halos associated with Niemann-Pick type B disease. Ophthalmology. 93: 933-7. PMID 3763139 DOI: 10.1016/S0161-6420(86)33639-X |
0.322 |
|
| 1985 |
Beard ME, Sapirstein V, Kolodny EH, Holtzman E. Peroxisomes in fibroblasts from skin of Refsum's disease patients. The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society. 33: 480-4. PMID 2580885 DOI: 10.1177/33.5.2580885 |
0.329 |
|
| 1984 |
Chang PL, Rosa NE, Varey PA, Kihara H, Kolodny EH, Davidson RG. Diagnosis of pseudo-arylsulfatase A deficiency with electrophoretic techniques. Pediatric Research. 18: 1042-5. PMID 6149515 DOI: 10.1203/00006450-198410000-00027 |
0.312 |
|
| 1983 |
Hreidarsson SJ, Thomas GH, Kihara H, Fluharty AL, Kolodny EH, Moser HW, Reynolds LW. Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy. Pediatric Research. 17: 701-4. PMID 6137805 DOI: 10.1203/00006450-198309000-00001 |
0.305 |
|
| 1983 |
Cable W, Kolodny E, Adams R. Histamine flare in Fabry's disease Neurology. 33: 387-387. DOI: 10.1212/Wnl.33.3.387-A |
0.315 |
|
| 1983 |
Kolodny EH, Raghavan SS. GM2-gangliosidosis Hexosaminidase mutations not of the Tay-Sachs type procedure unusual clinical variants Trends in Neurosciences. 6: 16-20. DOI: 10.1016/0166-2236(83)90008-5 |
0.335 |
|
| 1982 |
Thomas GH, Raghavan S, Kolodny EH, Frisch A, Neufeld EF, O'Brien JS, Reynolds LW, Miller CS, Shapiro J, Kazazian HH, Heller RH. Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals. Pediatric Research. 16: 232-7. PMID 7063277 DOI: 10.1203/00006450-198203000-00014 |
0.3 |
|
| 1982 |
Kolodny EH, Cable WJ. Inborn errors of metabolism. Annals of Neurology. 11: 221-32. PMID 6807191 DOI: 10.1002/Ana.410110302 |
0.348 |
|
| 1982 |
Cable WJ, Kolodny EH, Adams RD. Fabry disease: impaired autonomic function. Neurology. 32: 498-502. PMID 6803189 DOI: 10.1212/Wnl.32.5.498 |
0.358 |
|
| 1982 |
Cable WJ, McCluer RH, Kolodny EH, Ullman MD. Fabry disease: detection of heterozygotes by examination of glycolipids in urinary sediment. Neurology. 32: 1139-45. PMID 6289188 DOI: 10.1212/Wnl.32.10.1139 |
0.346 |
|
| 1981 |
Raghavan SS, Gajewski A, Kolodny EH. Leukocyte sulfatidase for the reliable diagnosis of metachromatic leukodystrophy. Journal of Neurochemistry. 36: 724-31. PMID 6109767 DOI: 10.1111/J.1471-4159.1981.Tb01648.X |
0.313 |
|
| 1977 |
Kistler JP, Lott IT, Kolodny EH, Friedman RB, Nersasian R, Schnur J, Mihm MC, Dvorak AM, Dickersin R. Mannosidosis. New clinical presentation, enzyme studied, and carbohydrate analysis. Archives of Neurology. 34: 45-51. PMID 12732 DOI: 10.1001/Archneur.1977.00500130065013 |
0.339 |
|
| 1976 |
Schaumburg HH, Powers JM, Raine CS, Johnson AB, Kolodny EH, Kishimoto Y, Igarashi M, Suzuki K. Adrenoleukodystrophy: a clinical, pathological and biochemical study. Advances in Experimental Medicine and Biology. 68: 379-87. PMID 937112 DOI: 10.1007/978-1-4684-7735-1_25 |
0.335 |
|
| 1976 |
Yavin E, Milunsky A, DeLong GR, Nash AH, Kolodny EH. Cholesterol metabolism in cultured fibroblasts in adrenoleukodystrophy. Pediatric Research. 10: 540-5. PMID 934726 DOI: 10.1203/00006450-197605000-00007 |
0.311 |
|
| 1976 |
Kolodny EH. Current concepts in genetics. Lysosomal storage diseases. The New England Journal of Medicine. 294: 1217-20. PMID 817200 DOI: 10.1056/Nejm197605272942206 |
0.325 |
|
| 1969 |
Kolodny EH, Brady RO, Volk BW. Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease. Biochemical and Biophysical Research Communications. 37: 526-31. PMID 5388728 DOI: 10.1016/0006-291X(69)90947-4 |
0.323 |
|
| 1968 |
Rebeiz JJ, Kolodny EH, Richardson EP. Corticodentatonigral degeneration with neuronal achromasia. Archives of Neurology. 18: 20-33. PMID 5634369 DOI: 10.1001/Archneur.1968.00470310034003 |
0.33 |
|
| 1965 |
KOLODNY EH, HASS WK, LANE B, DRUCKER WD. REFSUM'S SYNDROME: REPORT OF A CASE INCLUDING ELECTRON MICROSCOPIC STUDIES OF THE LIVER. Archives of Neurology. 12: 583-96. PMID 14295958 DOI: 10.1001/Archneur.1965.00460300031004 |
0.33 |
|
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