المؤلفون: Mark A. Pook, Sanjay I. Bidichandani, Astrid Rasmussen, Sergio Cocozza, Irene De Biase, Antonella Monticelli, Sahar Al-Mahdawi

المساهمون: DE BIASE, I, Rasmussen, A, Monticelli, A, AL MAHDAWI, S, Pook, M, Cocozza, Sergio, Bidichandani, Si

المصدر: Genomics (S. Diego Calif.) 90 (2007): 1–5. doi:10.1016/j.ygeno.2007.04.001
info:cnr-pdr/source/autori:De Biase I, Rasmussen A, MONTICELLI A, Al-Mahdawi S, Pook M, Cocozza S, Bidichandani SI./titolo:Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life./doi:10.1016%2Fj.ygeno.2007.04.001/rivista:Genomics (S. Diego Calif.)/anno:2007/pagina_da:1/pagina_a:5/intervallo_pagine:1–5/volume:90

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Time Factors, Ataxia, Somatic cell, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Degenerative disease, Trinucleotide Repeats, Progressive, Iron-Binding Proteins, Somatic instability, Genetics, medicine, Humans, Allele, Gene, 030304 developmental biology, 0303 health sciences, Mutation, biology, GAA triplet repeat, Neurodegeneration, Instability, medicine.disease, 3. Good health, Friedreich ataxia, Embryonic development, Frataxin, biology.protein, Microsatellite Instability, medicine.symptom, 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fabe70c571cb9b7421c352e51d4e5283Test
https://doi.org/10.1016/j.ygeno.2007.04.001Test

المؤلفون: Marmolino, Daniele, Acquaviva, Fabio

المصدر: Cerebellum, 8 (3

مصطلحات موضوعية: Neurologie, Sciences bio-médicales et agricoles, Animals, Antioxidants -- pharmacology -- therapeutic use, Chlorofluorocarbons, Methane -- pharmacology -- therapeutic use, Enzyme Inhibitors -- pharmacology -- therapeutic use, Friedreich Ataxia -- drug therapy -- genetics -- therapy, Gene Silencing -- physiology, Heterochromatin -- metabolism, Histone Deacetylases -- metabolism, Histones -- metabolism, Humans, Iron -- metabolism, Iron Chelating Agents -- pharmacology -- therapeutic use, Iron-Binding Proteins -- genetics, Models, Biological, PPAR gamma -- metabolism, Signal Transduction -- drug effects, Transcription Factors -- metabolism, Trinucleotide Repeats -- genetics, Frataxin, Friedreich's ataxia, FXN gene, GAA triplet repeat, Neurodegeneration

وصف الملف: No full-text files

العلاقة: uri/info:doi/10.1007/s12311-008-0084-2; uri/info:pmid/19165552; uri/info:scp/68449096810; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/148500Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/148500Test

المؤلفون: Pook, M A, De Biase, I, Ramussen, A, Monticelli, A, Al-Mahdawi, S, Cocozza, S, Bidichandani, S

مصطلحات موضوعية: Friedreich ataxia, GAA triplet-repeat, somatic instability

وصف الملف: 796469 bytes; application/pdf

العلاقة: Genomics. 90 (1) 1-5; http://bura.brunel.ac.uk/handle/2438/1158Test; https://doi.org/10.1016/j.ygeno.2007.04.001Test

الإتاحة: https://doi.org/10.1016/j.ygeno.2007.04.001Test
http://bura.brunel.ac.uk/handle/2438/1158Test

المؤلفون: Irene De Biase, Astrid Rasmussen, Antonella Monticelli, Sahar Al-mahdawi, Sergio Cocozza, Sanjay I. Bidich

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://bura.brunel.ac.uk/bitstream/2438/1158/1/DeBiasePookGenomics2007.pdfTest.

مصطلحات موضوعية: Friedreich ataxia, GAA triplet-repeat, instability, progressive, embryonic development, somatic

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.426.8451Test; http://bura.brunel.ac.uk/bitstream/2438/1158/1/DeBiasePookGenomics2007.pdfTest

الإتاحة: http://bura.brunel.ac.uk/bitstream/2438/1158/1/DeBiasePookGenomics2007.pdfTest

المصدر: Cerebellum, 8 (3

مصطلحات الفهرس: Neurologie, Sciences bio-médicales et agricoles, Animals, Antioxidants -- pharmacology -- therapeutic use, Chlorofluorocarbons, Methane -- pharmacology -- therapeutic use, Enzyme Inhibitors -- pharmacology -- therapeutic use, Friedreich Ataxia -- drug therapy -- genetics -- therapy, Gene Silencing -- physiology, Heterochromatin -- metabolism, Histone Deacetylases -- metabolism, Histones -- metabolism, Humans, Iron -- metabolism, Iron Chelating Agents -- pharmacology -- therapeutic use, Iron-Binding Proteins -- genetics, Models, Biological, PPAR gamma -- metabolism, Signal Transduction -- drug effects, Transcription Factors -- metabolism, Trinucleotide Repeats -- genetics, Frataxin, Friedreich's ataxia, FXN gene, GAA triplet repeat, Neurodegeneration, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/148500Test
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLLTest

المصدر: Cerebellum, 8 (3

مصطلحات الفهرس: Neurologie, Sciences bio-médicales et agricoles, Animals, Antioxidants -- pharmacology -- therapeutic use, Chlorofluorocarbons, Methane -- pharmacology -- therapeutic use, Enzyme Inhibitors -- pharmacology -- therapeutic use, Friedreich Ataxia -- drug therapy -- genetics -- therapy, Gene Silencing -- physiology, Heterochromatin -- metabolism, Histone Deacetylases -- metabolism, Histones -- metabolism, Humans, Iron -- metabolism, Iron Chelating Agents -- pharmacology -- therapeutic use, Iron-Binding Proteins -- genetics, Models, Biological, PPAR gamma -- metabolism, Signal Transduction -- drug effects, Transcription Factors -- metabolism, Trinucleotide Repeats -- genetics, Frataxin, Friedreich's ataxia, FXN gene, GAA triplet repeat, Neurodegeneration, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/148500Test
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLLTest