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Items: 48

1.

How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration.

Furlong P, Bridges JF, Charnas L, Fallon JR, Fischer R, Flanigan KM, Franson TR, Gulati N, McDonald C, Peay H, Sweeney HL.

Orphanet J Rare Dis. 2015 Jun 24;10:82. doi: 10.1186/s13023-015-0281-2.

2.

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

Stitziel NO, Fouchier SW, Sjouke B, Peloso GM, Moscoso AM, Auer PL, Goel A, Gigante B, Barnes TA, Melander O, Orho-Melander M, Duga S, Sivapalaratnam S, Nikpay M, Martinelli N, Girelli D, Jackson RD, Kooperberg C, Lange LA, Ardissino D, McPherson R, Farrall M, Watkins H, Reilly MP, Rader DJ, de Faire U, Schunkert H, Erdmann J, Samani NJ, Charnas L, Altshuler D, Gabriel S, Kastelein JJ, Defesche JC, Nederveen AJ, Kathiresan S, Hovingh GK; National Heart, Lung, and Blood Institute GO Exome Sequencing Project.

Arterioscler Thromb Vasc Biol. 2013 Dec;33(12):2909-14. doi: 10.1161/ATVBAHA.113.302426. Epub 2013 Sep 26.

3.

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer CJ, Watkins PA, Snowden A, Moser A, Naidu S, Bibat G, Hewson S, Tam K, Clarke JT, Charnas L, Stetten G, Karczeski B, Cutting G, Steinberg S.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):160-6. doi: 10.1016/j.ymgme.2011.05.016. Epub 2011 Jun 22.

PMID:
21700483
4.

Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members.

Sarafoglou K, Grosse-Redlinger K, Boys CJ, Charnas L, Otten N, Broock R, Nyhan WL.

Arch Neurol. 2010 Jun;67(6):761-4. doi: 10.1001/archneurol.2010.116.

PMID:
20558399
5.

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K.

Nat Genet. 2008 Sep;40(9):1065-7. doi: 10.1038/ng.194.

PMID:
19165920
6.

Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease.

Tolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, Kivisto T, Charnas L, Shapiro EG, Orchard PJ.

Bone Marrow Transplant. 2009 Jan;43(1):21-7. doi: 10.1038/bmt.2008.273. Epub 2008 Sep 8.

PMID:
18776925
7.

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.

Bishop L, Kanoff R, Charnas L, Krenzel C, Berry SA, Schimmenti LA.

J Child Neurol. 2008 Jul;23(7):823-8. doi: 10.1177/0883073808315410.

PMID:
18658082
8.

Reply to: Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report. Haematologica 2008; 93:e11-13.

Charnas L, Eichler F, Kohlschuetter A, Tolar J, Orchard PJ.

Haematologica. 2008 May;93(5):e47; author reply e48. doi: 10.3324/haematol.12774. No abstract available.

9.
10.

Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome.

Tolar J, Grewal SS, Bjoraker KJ, Whitley CB, Shapiro EG, Charnas L, Orchard PJ.

Bone Marrow Transplant. 2008 Mar;41(6):531-5. Epub 2007 Nov 26.

PMID:
18037941
11.

Hematopoietic cell therapy for metabolic disease.

Orchard PJ, Blazar BR, Wagner J, Charnas L, Krivit W, Tolar J.

J Pediatr. 2007 Oct;151(4):340-6. Review. No abstract available.

PMID:
17889065
12.

Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.

Balciuniene J, Feng N, Iyadurai K, Hirsch B, Charnas L, Bill BR, Easterday MC, Staaf J, Oseth L, Czapansky-Beilman D, Avramopoulos D, Thomas GH, Borg A, Valle D, Schimmenti LA, Selleck SB.

Am J Hum Genet. 2007 May;80(5):938-47. Epub 2007 Mar 20.

13.

N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy.

Tolar J, Orchard PJ, Bjoraker KJ, Ziegler RS, Shapiro EG, Charnas L.

Bone Marrow Transplant. 2007 Feb;39(4):211-5.

PMID:
17290278
14.
15.

Central pontine myelinolysis following bone marrow transplantation complicated by severe hepatic veno-occlusive disease.

Fraser C, Charnas L, Orchard P.

Bone Marrow Transplant. 2005 Oct;36(8):733-4. No abstract available.

PMID:
16044132
16.

Outcome of CNS and pulmonary enteroviral infections after hematopoietic cell transplantation.

Tan PL, Verneris MR, Charnas LR, Reck SJ, van Burik JA, Blazar BR.

Pediatr Blood Cancer. 2005 Jul;45(1):74-5. No abstract available.

PMID:
15806546
17.

Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients.

Oz G, Tkác I, Charnas LR, Choi IY, Bjoraker KJ, Shapiro EG, Gruetter R.

Neurology. 2005 Feb 8;64(3):434-41.

PMID:
15699371
18.

Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation.

Grewal SS, Shapiro EG, Krivit W, Charnas L, Lockman LA, Delaney KA, Davies SM, Wenger DA, Rimell FL, Abel S, Grovas AC, Orchard PJ, Wagner JE, Peters C.

J Pediatr. 2004 May;144(5):569-73.

PMID:
15126988
19.

Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.

Peters C, Charnas LR, Tan Y, Ziegler RS, Shapiro EG, DeFor T, Grewal SS, Orchard PJ, Abel SL, Goldman AI, Ramsay NK, Dusenbery KE, Loes DJ, Lockman LA, Kato S, Aubourg PR, Moser HW, Krivit W.

Blood. 2004 Aug 1;104(3):881-8. Epub 2004 Apr 8. Erratum in: Blood. 2004 Dec 15;104(13):3857.

20.

Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report.

Grewal S, Shapiro E, Braunlin E, Charnas L, Krivit W, Orchard P, Peters C.

Bone Marrow Transplant. 2003 Nov;32(9):957-60.

PMID:
14561999
21.

Late occurrence of chronic immune-mediated axonal polyneuropathy following bone marrow transplant for juvenile-onset alpha-mannosidosis.

Mulrooney DA, Davies SM, Walk D, Charnas LR.

Bone Marrow Transplant. 2003 Nov;32(9):953-5.

PMID:
14561998
22.

Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.

Richard G, Lin JP, Smith L, Whyte YM, Itin P, Wollina U, Epstein E Jr, Hohl D, Giroux JM, Charnas L, Bale SJ, DiGiovanna JJ.

J Invest Dermatol. 1997 Nov;109(5):666-71.

23.

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

Nussbaum RL, Orrison BM, Jänne PA, Charnas L, Chinault AC.

Hum Genet. 1997 Feb;99(2):145-50.

PMID:
9048911
24.

Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe.

Kenworthy L, Charnas L.

Am J Med Genet. 1995 Nov 20;59(3):283-90.

PMID:
8599350
25.

Neurologic profile in osteogenesis imperfecta.

Charnas LR, Marini JC.

Connect Tissue Res. 1995;31(4):S23-6.

PMID:
15612376
26.

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M.

Nat Genet. 1994 Nov;8(3):275-9. Erratum in: Nat Genet 1995 Apr;9(4):451.

PMID:
7874170
27.

Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels.

Miller RC, Wolf EJ, Gould M, Macri CJ, Charnas LR.

Obstet Gynecol. 1994 Jul;84(1):77-80.

PMID:
7516514
28.

Distal vacuolar myopathy in nephropathic cystinosis.

Charnas LR, Luciano CA, Dalakas M, Gilliatt RW, Bernardini I, Ishak K, Cwik VA, Fraker D, Brushart TA, Gahl WA.

Ann Neurol. 1994 Feb;35(2):181-8.

PMID:
8109899
29.

Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34.

Jänne PA, Dutra AS, Dracopoli NC, Charnas LR, Puck JM, Nussbaum RL.

Cytogenet Cell Genet. 1994;66(3):164-6.

PMID:
8125013
30.
31.

Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis.

Gahl WA, Bernardini IM, Dalakas MC, Markello TC, Krasnewich DM, Charnas LR.

Pediatr Res. 1993 Aug;34(2):115-9.

PMID:
8233709
32.

Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe.

Kenworthy L, Park T, Charnas LR.

Am J Med Genet. 1993 May 15;46(3):297-303.

PMID:
8488875
33.

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe.

Leahey AM, Charnas LR, Nussbaum RL.

Hum Mol Genet. 1993 Apr;2(4):461-3.

PMID:
8504307
34.

Parenchymal organ cystine depletion with long-term cysteamine therapy.

Gahl WA, Charnas L, Markello TC, Bernardini I, Ishak KG, Dalakas MC.

Biochem Med Metab Biol. 1992 Dec;48(3):275-85.

PMID:
1476793
35.

Myalgia and elevated creatine kinase activity associated with subcutaneous injections of diluent.

Bach MA, Blum DM, Rose SR, Charnas LR.

J Pediatr. 1992 Oct;121(4):650-1.

PMID:
1403405
37.

Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.

Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA.

N Engl J Med. 1991 May 9;324(19):1318-25.

38.

Central nervous system involvement in Von Hippel-Lindau disease.

Filling-Katz MR, Choyke PL, Oldfield E, Charnas L, Patronas NJ, Glenn GM, Gorin MB, Morgan JK, Linehan WM, Seizinger BR, et al.

Neurology. 1991 Jan;41(1):41-6.

PMID:
1985294
39.

The oculocerebrorenal syndrome of Lowe.

Charnas LR, Gahl WA.

Adv Pediatr. 1991;38:75-107. Review. No abstract available.

PMID:
1927708
40.

Neurological injuries in boxers: the use of tests.

Charnas L, Pyeritz RE.

JAMA. 1990 Sep 26;264(12):1532-3. No abstract available.

PMID:
2203913
41.

Electrophoretic examination of proteinuria in Lowe's syndrome and other causes of renal tubular Fanconi syndrome.

Papadopoulos NM, Costello R, Charnas L, Adamson MD, Gahl WA.

Clin Chem. 1989 Nov;35(11):2231-3.

42.

Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy.

White RI Jr, Lynch-Nyhan A, Terry P, Buescher PC, Farmlett EJ, Charnas L, Shuman K, Kim W, Kinnison M, Mitchell SE.

Radiology. 1988 Dec;169(3):663-9.

PMID:
3186989
43.

Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis.

Gahl WA, Dalakas MC, Charnas L, Chen KT, Pezeshkpour GH, Kuwabara T, Davis SL, Chesney RW, Fink J, Hutchison HT.

N Engl J Med. 1988 Dec 1;319(22):1461-4. No abstract available.

PMID:
3185663
44.
45.

MRI findings and peripheral neuropathy in Lowe's syndrome.

Charnas L, Bernar J, Pezeshkpour GH, Dalakas M, Harper GS, Gahl WA.

Neuropediatrics. 1988 Feb;19(1):7-9.

PMID:
2834662
46.

Schwann cell proliferation and migration during paranodal demyelination.

Griffin JW, Drucker N, Gold BG, Rosenfeld J, Benzaquen M, Charnas LR, Fahnestock KE, Stocks EA.

J Neurosci. 1987 Mar;7(3):682-99.

47.

Neurologic injuries in boxers.

Charnas L, Pyeritz RE.

Hosp Pract (Off Ed). 1986 May 30;21(5A):30-1, 34-9. No abstract available.

PMID:
3084519
48.

Frameshifts and frameshift suppressors in Saccharomyces cerevisiae.

Culbertson MR, Charnas L, Johnson MT, Fink GR.

Genetics. 1977 Aug;86(4):745-64.

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