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5Hanna Mandel
![]() Summary for 2004 [at-glance overview of Hanna Mandel work for the selected year as suggested by data mining algorithms]This is an Authoratory overview of author Hanna Mandel. According to available data, in 2004 Hanna Mandel published at least 5 articles. This work was completed in collaboration with several authors including Wanders, Ronald J A and Waterham, Hans R. Many other authors have collaborated with Hanna Mandel as well. There is no information about the funding or the grants awarded to support this work.
Hanna Mandel has rank 417 when compared to all other authors using the keyword Blotting, Western. Analysis of the article abstracts and the titles suggests that Hanna Mandel professional interests are focused around "mutations pex2 gene", "structural biochemical basis" and "maple syrup urine". These might also be referred to as "novel mutations", "zinc-binding domain" or "peroxisome biogenesis". Statistical analysis shows that Hanna Mandel's writing is likely to contains terms "mutations", "patients", "gene", "novel", "pex2" and "mutation".
Unfortunately, there is not enough information to establish Hanna Mandel affiliation. Sadly, no email addresses were found for any of the affiliations. Images [images we found on the Internet for Hanna Mandel]loading...
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Alternative names (1) [other authors with names similar to Hanna Mandel]Year 2004 Charts [Hanna Mandel frequent coauthors and the most common unique vocabulary terms for the selected year]Historical Performance Charts [graphical overview of Hanna Mandel publication and funding history for the range of years]Hanna Mandel Coauthors (46) [all coauthors with the number of joint publications] Other [context-specific ads]Affiliations (5) [condensed summary of the Hanna Mandel affiliations, the leading number and the color conveys importance]- 1Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands.
1Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA. 1Section of Medical and Molecular Genetics, University of Birmingham, and Liver Unit, Birmingham Children's Hospital, UK. 1Lab. Genetic Metabolic Diseases (F0-224), Department of Clinical Chemistry and Peadiatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. 1Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy.
Key Opinion Leader In [Hanna Mandel is considered a key opinion leader in any keyword where the rank of 5 is achieved, the leading number before the keyword shows the author's rank as compared to all other authors]- 417Blotting, Western | 639Membrane Proteins | 655Mutation
Keywords (32) [keywords assigned to Hanna Mandel articles by PubMed, the leading number and the color conveys importance]- 5Humans | 4Mutation | 3Blotting, Western | 3Membrane Proteins | 2Fluorescent Antibody Technique | 2Peroxisomal Disorders | 2Genetic Complementation Test | 2Cells, Cultured | 2Female | 2Phenotype | 2Male | 1Base Sequence | 1Consanguinity | 1Metabolism, Inborn Errors | 1Thiamine Pyrophosphate | 1Chromosomes, Human, Pair 19 | 1Thiamine | 1Sequence Homology, Amino Acid | 1Cold Temperature | 1Recombinant Proteins | 1Chromosomes, Human, Pair 15 | 1Protein Structure, Tertiary | 1Membrane Fusion | 1Brain Diseases | 1Israel | 1Linkage (Genetics) | 1Infant | 1Cell Fusion | 1Nucleocytoplasmic Transport Proteins | 1Pedigree | 1Catalase | 1Mitochondrial Proteins
Hanna Mandel Unique Vocabulary (96) [single words, word pairs and phrases obtained by analysis of abstracts and titles, the leading number and the color conveys importance; Hanna Mandel might be a good expert witness on these terms]- 18mutations | 12patients | 12gene | 8novel | 6pex2 | 6mutation | 6e2 | 6domain | 6homozygous | 6disease | 6phenotype | 6protein | 6e1 | 5arc | 5activity | 5degrees | 5subunit | 4proteins | 4msud | 4mitochondrial | 4vps33b | 4zinc-binding | 4disorder | 4peroxisomal | 4ethylmalonic | 4biochemical | 4peroxisome | 4encoding | 4basis | 4biogenesis | 4patient | 3h391r
- 6novel mutations | 4zinc-binding domain | 4peroxisome biogenesis | 3mutations pex2 | 3pex2 gene | 3maple syrup | 3biochemical basis | 3membrane fusion | 3syrup urine | 3ethylmalonic encephalopathy | 3structural biochemical | 3ethe1 gene | 3arc syndrome | 3urine disease | 3basis novel | 2mutations homozygous | 2group disorders | 2gene vps33b | 2fusion cause | 2thiamin-responsive phenotype | 2domains zinc-binding | 2patients peroxisome | 2caused mutations | 2cause arthrogryposis-renal | 2gene encoding | 2proposed mechanism | 2mitochondrial matrix | 2patients belonging | 2gene unrelated | 2e2 subunit | 2disease patients | 2patients proposed
- 3mutations pex2 gene | 3structural biochemical basis | 3maple syrup urine | 3basis novel mutations | 3biochemical basis novel | 3syrup urine disease | 2mechanism thiamin-responsive phenotype | 2encephalopathy caused mutations | 2fusion cause arthrogryposis-renal | 2arthrogryposis-renal dysfunction-cholestasis arc | 2urine disease patients | 2novel mutations pex2 | 2patients peroxisome biogenesis | 2mutations homozygous israeli | 2unrelated patients peroxisome | 2transmembrane domains zinc-binding | 2mutations ethe1 gene | 2patients proposed mechanism | 2disease patients proposed | 2mutations vps33b encoding | 2vps33b encoding regulator | 2regulator snare-dependent membrane | 2pbd patients belonging | 2caused mutations ethe1 | 2mitochondrial matrix protein | 2snare-dependent membrane fusion | 2ethylmalonic encephalopathy caused | 2encoding regulator snare-dependent | 2pex2 gene unrelated | 2peroxisome biogenesis disorder | 2gene unrelated patients | 2proposed mechanism thiamin-responsive
Reader's Comments (0) [comments posted by readers of Hanna Mandel profile]Funding (0) [selected NIH grants to Hanna Mandel and the award amounts for recent years]- award information is not available
Hanna Mandel Articles (5) [selected PubMed articles for the year 2004 with the links to a full text at PubMed]Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism. (2004) >> Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands. 1Von Schütz, M, 28Wanders, Ronald J A, 5Gootjes, Jeannette, 1Huemer, Martina, 1Smeitink, Jan A, 1Dekker, Conny, 5Mandel, Hanna, 11Topçu, Meral, 1Mooijer, Petra A W, 2Schmohl, Frank, 11Waterham, Hans R, 7Marquardt, Thorsten.Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype. (2004) >> Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA. 2Song, Jiu-Li, 1Moss, Clint C, 3Chuang, Jacinta L, 3Wynn, R Max, 130Li, Jun, 5Mandel, Hanna, 4Chuang, David T, 1Awad, Nibal.Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. (2004) >> Section of Medical and Molecular Genetics, University of Birmingham, and Liver Unit, Birmingham Children's Hospital, UK. 2Morgan, Neil V, 7Kelly, Deirdre A, 6Karet, Fiona E, 1Quarrell, Oliver W, 8Trembath, Richard C, 9Houwen, Roderick H J, 2Lo, Bryan, 4Thompson, Richard J, 5Wraith, James E, 5Mandel, Hanna, 4Di Rocco, Maja, 11Klomp, Leo W J, 10Maher, Eamonn R, 2Stapelbroek, Janneke M, 1Wali, S, 1Johnson, Colin A, 9Knisely, A S, 2Morris, Andrew A M, 2Gissen, Paul, 2McClean, Patricia, 3McKiernan, Patrick J, 2Cooper, Wendy N, 1Lynch, Sally A, 1Forshew, Tim.Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. (2004) >> Lab. Genetic Metabolic Diseases (F0-224), Department of Clinical Chemistry and Peadiatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. 1Shimozawa, Noboyuki, 28Wanders, Ronald J A, 1Mitanchez, Delphine, 28Suzuki, Yasuyuki, 5Gootjes, Jeannette, 1Eyskens, François, 3Elpeleg, Orly, 5Mandel, Hanna, 11Waterham, Hans R.Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. (2004) >> Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy. 1Ferrari, Gianfrancesco, 3Dionisi-Vici, Carlo, 1Garcia-Silva, Maria-Teresa, 3Briem, Egill, 1Rahman, Shamima, 1Mineri, Rossana, 8Rinaldo, Piero, 10Zeviani, Massimo, 5Mandel, Hanna, 2Leonard, James, 9Gasparini, Paolo, 2Tiranti, Valeria, 2Vollmer, Brigitte, 2D'Adamo, Pio, 7Balestri, Paolo, 2Garavaglia, Barbara, 3Hahn, Si Houn, 2Lamantea, Eleonora.
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