Zobrazeno 1 - 10
of 32
pro vyhledávání: '"J K, Fink"'
Autor:
J. K. Fink, T. Heiman-Patterson, T. Bird, F. Cambi, M.-P. Dube, D. A. Figlewicz, J. L. Haines, A. Hentati, M. A. Pericak-Vance, W. Raskind, G. A. Rouleau, T. Siddique
Publikováno v:
Neurology. 46:1507-1514
Hereditary spastic paraplegia (HSP) is a diverse group of inherited disorders characterized by progressive lower-extremity spasticity and weakness. Insight into the genetic basis of these disorders is expanding rapidly. Uncomplicated autosomal domina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ccb5cda779835b8258fd1fb448359b52
https://doi.org/10.1212/wnl.46.6.1507
https://doi.org/10.1212/wnl.46.6.1507
Publikováno v:
Bratislavske lekarske listy. 107(11-12)
The AAA (ATPases Associated with various cellular Activities) domain characterizes a diverse superfamily of proteins. Mutations in genes encoding AAA-domains cause a variety of human diseases including cystic fibrosis, Zellweger syndrome, adrenomyelo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::810beb530586ecf0d75baa79767b570a
https://pubmed.ncbi.nlm.nih.gov/17425157
https://pubmed.ncbi.nlm.nih.gov/17425157
The compilation of Metal Waste Form (MWF) immersion test data in this document is part of the effort initiated to qualify the stainless steel-15% zirconium (SS-15Zr) alloy for repository disposal. The SS-15Zr alloy was developed as part of the waste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::093fabe17bcde5fb30a749ea45a0d444
https://doi.org/10.2172/837433
https://doi.org/10.2172/837433
Autor:
J. K. Fink, M. Fink
Publikováno v:
IOR 1997 - 9th European Symposium on Improved Oil Recovery.
Plastics recycling has become a major challenge because either resources are restricted or because of the increasing problems of waste disposal management, which nowadays is deeply linked to environmental aspects. Various different routes have been i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc34b5c6d68d4699738878d5e414108f
https://doi.org/10.3997/2214-4609.201406808
https://doi.org/10.3997/2214-4609.201406808
Autor:
J K, Fink, S, Rainer, J, Wilkowski, S M, Jones, A, Kume, P, Hedera, R, Albin, J, Mathay, L, Girbach, T, Varvil, B, Otterud, M, Leppert
Publikováno v:
American journal of human genetics. 59(1)
Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary movements that last up to several hours and occur at rest both spontaneously and following caffeine or alcohol consumption. We analyzed a Polish-American kindred wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f588bed6e44e9cdcb33a001a4f72e046
https://pubmed.ncbi.nlm.nih.gov/8659518
https://pubmed.ncbi.nlm.nih.gov/8659518
Autor:
J K, Fink, T, Heiman-Patterson, T, Bird, F, Cambi, M P, Dubé, D A, Figlewicz, J L, Haines, A, Hentati, M A, Pericak-Vance, W, Raskind, G A, Rouleau, T, Siddique
Publikováno v:
Neurology. 46(6)
Hereditary spastic paraplegia (HSP) is a diverse group of inherited disorders characterized by progressive lower-extremity spasticity and weakness. Insight into the genetic basis of these disorders is expanding rapidly. Uncomplicated autosomal domina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c24ea8f5af17aa19c55b636c14eeb79f
https://pubmed.ncbi.nlm.nih.gov/8649538
https://pubmed.ncbi.nlm.nih.gov/8649538
Publikováno v:
Neurology. 46(3)
Peroxisomes are single-membrane-bound subcellular organelles found in almost all eukaryotic cells. There are more than 60 identified enzymes in peroxisomes. Functional peroxisomes are necessary for normal development, and deficiencies of peroxisome n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c2cf28ac0cb441caa4c2777868e145f
https://pubmed.ncbi.nlm.nih.gov/8618694
https://pubmed.ncbi.nlm.nih.gov/8618694
Autor:
M R, Filling-Katz, J K, Fink, M B, Gorin, R, Caruso, J B, Carl, E J, Fitzgibbon, N W, Barton, N N, Katz
Publikováno v:
Metabolic, pediatric, and systemic ophthalmology (New York, N.Y. : 1985). 15(1-3)
Type B Niemann-Pick Disease (NPB) is a rare lysosomal storage disease resulting from diminished activity or deficiency of sphingomyelinase and is characterized by multi-system involvement with visceromegaly. Rare ocular involvement (the Macula Halo S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::80c9c75c892f11dcc1303f8f16a7ac38
https://pubmed.ncbi.nlm.nih.gov/1484498
https://pubmed.ncbi.nlm.nih.gov/1484498
Publikováno v:
Archives of Neurology. 53:1017
To test the efficacy and toxic effects of ammonium tetrathiomolybdate in the initial treatment of a relatively large series of patients with neurologic symptoms and signs caused by Wilson disease. Two key aspects of efficacy are to preserve the neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2cb0a85255dd3cf176f6056bb1eb267
https://doi.org/10.1001/archneur.1996.00550100103019
https://doi.org/10.1001/archneur.1996.00550100103019
Autor:
J. K. Fink
Publikováno v:
Polymer Bulletin. :159-163
Experimentally observed deviations from the classical rate laws of radical polymerization in solution can be treated as solvent interactions concerning the growth step. The theory of hot radicals and the theory of donor-acceptor complexes are based o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::865a1d12e7ec263cdbf5dc67f4a489b0
https://doi.org/10.1007/bf00265467
https://doi.org/10.1007/bf00265467