المؤلفون: Marschik, Peter B., Lemcke, Sanne, Einspieler, Christa, Zhang, Dajie, Bolte, Sven, Townend, Gillian S., Lauritsen, Marlene B.

المصدر: Marschik , P B , Lemcke , S , Einspieler , C , Zhang , D , Bolte , S , Townend , G S & Lauritsen , M B 2018 , ' Early development in Rett syndrome : the benefits and difficulties of a birth cohort approach ' , Developmental Neurorehabilitation , vol. 21 , no. 1 , pp. 68-72 . https://doi.org/10.1080/17518423.2017.1323970Test

مصطلحات موضوعية: Birth cohort, early development, longitudinal study, parent interviews, prodrome, Rett syndrome, FRAGILE-X-SYNDROME, PRESERVED SPEECH VARIANT, GENOTYPE-PHENOTYPE RELATIONSHIPS, PARENTS CONCERNS, YOUNG GIRLS, AUTISM, DIAGNOSIS, DISORDERS, CHILDREN, AGE

الإتاحة: https://doi.org/10.1080/17518423.2017.1323970Test
https://cris.maastrichtuniversity.nl/en/publications/6f84408e-4235-4aef-931f-b7adabec5d68Test

المؤلفون: Nissenkorn, Andreea, Levy Drummer, Rachel S., Bondi, Ori, Lo Rizzo, Caterina, Pineda, Mercedes, Armstrong, Judith, Clarke, Angus, Bahi Buisson, Nadia, Mejaski, Bosnjak Vlatka, Djuric, Milena, Craiu, Dana, Djukic, Alexsandra, Pini, Giorgio, Bisgaard, Anne Marie, Melegh, Bela, Vignoli, Aglaia, Russo, Silvia, Anghelescu, Cristina, Veneselli, Edvige, Hayek, Joussef, Ben Zeev, Bruria, RENIERI, ALESSANDRA, VILLARD, Laurent, MARI, FRANCESCA, MENCARELLI, MARIA ANTONIETTA, MELONI, ILARIA

المساهمون: Nissenkorn, Andreea, Levy Drummer, Rachel S., Bondi, Ori, Renieri, Alessandra, Villard, Laurent, Mari, Francesca, Mencarelli, MARIA ANTONIETTA, Lo Rizzo, Caterina, Meloni, Ilaria, Pineda, Mercede, Armstrong, Judith, Clarke, Angu, Bahi Buisson, Nadia, Mejaski, Bosnjak Vlatka, Djuric, Milena, Craiu, Dana, Djukic, Alexsandra, Pini, Giorgio, Bisgaard, Anne Marie, Melegh, Bela, Vignoli, Aglaia, Russo, Silvia, Anghelescu, Cristina, Veneselli, Edvige, Hayek, Joussef, Ben Zeev, Bruria

مصطلحات موضوعية: Database, MECP2, Preserved speech variant, Seizure, Adolescent, Child, Preschool, Epilepsy, Female, Genetic Association Studie, Human, Infant, Male, Methyl-CpG-Binding Protein 2, Rett Syndrome, Young Adult, Databases, Factual, Neurology (clinical), Neurology, Medicine (all)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25789914; info:eu-repo/semantics/altIdentifier/wos/WOS:000352810100013; volume:56; issue:4; firstpage:569; lastpage:576; numberofpages:8; journal:EPILEPSIA; http://hdl.handle.net/11365/981204Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84927568853; http://www3.interscience.wiley.com/journal/117957420/issueyear?year=2009Test

الإتاحة: https://doi.org/10.1111/epi.12941Test
http://hdl.handle.net/11365/981204Test
http://www3.interscience.wiley.com/journal/117957420/issueyear?year=2009Test

المصدر: Developmental Neurorehabilitation. 21(1):68-72

مصطلحات موضوعية: GENOTYPE-PHENOTYPE RELATIONSHIPS, DISORDERS, parent interviews, longitudinal study, CHILDREN, DIAGNOSIS, early development, prodrome, PRESERVED SPEECH VARIANT, YOUNG GIRLS, Rett syndrome, AGE, PARENTS CONCERNS, FRAGILE-X-SYNDROME, AUTISM, Birth cohort

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od________83::4f53f62296c5d75cbb3517d8ac324571Test
https://cris.maastrichtuniversity.nl/en/publications/6f84408e-4235-4aef-931f-b7adabec5d68Test

المؤلفون: DE BONA C., ZAPPELLA M., HAYEK G., MELONI, ILARIA, VITELLI F., BRUTTINI M., CUSANO R., LOFFREDO P., LONGO I., RENIERI, ALESSANDRA

المساهمون: DE BONA, C., Zappella, M., Hayek, G., Meloni, Ilaria, Vitelli, F., Bruttini, M., Cusano, R., Loffredo, P., Longo, I., Renieri, Alessandra

مصطلحات موضوعية: MECP2, Preserved speech variant, Rett syndrome

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/10854091; info:eu-repo/semantics/altIdentifier/wos/WOS:000087472900002; volume:8; issue:5; firstpage:325; lastpage:330; numberofpages:6; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11365/37864Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0034088550; https://www.nature.com/articles/5200473Test

الإتاحة: https://doi.org/10.1038/sj.ejhg.5200473Test
http://hdl.handle.net/11365/37864Test
https://www.nature.com/articles/5200473Test

المؤلفون: P. Di Marco, Maria Flora Scusa, A Romanelli, Michele Zappella, P. Morescalchi, Laura Congiu, Giorgio Pini, Fabrizio Bianchi, Alessandra Ferlini, Alberto Benincasa, Stefania Bigoni, Daniela Tropea

المصدر: Orphanet Journal of Rare Diseases

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, ARTT-NOS: Atypical RTT-not otherwise specified, Z-RTT: Preserved speech variant or “Zappella variant”, Socio-culturale, RTT: Rett syndrome, CDKL5: Cyclin dependent kinase-like 5, Rett syndrome, Disease, 030105 genetics & heredity, Biology, Autonomic disorder, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neurodevelopmental disorder, medicine, FOXG1: Forkhead box G1, MECP2: Methyl CpG binding protein 2, Genetics(clinical), Pharmacology (medical), Genetics (clinical), Medicine(all), Genetics, Z-RTT: Preserved speech variant or "Zappella variant", Research, General Medicine, medicine.disease, Human genetics, Autonomic nervous system, Cohort, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90b56a2bc9e4391ef14bb7be55ebb0feTest
https://doi.org/10.1186/s13023-016-0499-7Test

المؤلفون: Marschik, Peter B, Lemcke, Sanne, Einspieler, Christa, Zhang, Dajie, Bölte, Sven, Townend, Gillian S, Lauritsen, Marlene B.

المساهمون: RS: MHeNs - R3 - Neuroscience, Bioinformatica

المصدر: Marschik, P B, Lemcke, S, Einspieler, C, Zhang, D, Bölte, S, Townend, G S & Lauritsen, M B 2018, ' Early development in Rett syndrome-the benefits and difficulties of a birth cohort approach ', Developmental Neurorehabilitation, vol. 21, no. 1, pp. 68-72 . https://doi.org/10.1080/17518423.2017.1323970Test
Developmental Neurorehabilitation, 21(1), 68-72. Routledge/Taylor & Francis Group
Developmental Neurorehabilitation

مصطلحات موضوعية: GENOTYPE-PHENOTYPE RELATIONSHIPS, Adolescent, DISORDERS, Denmark, CHILDREN, DIAGNOSIS, Rett Syndrome/diagnosis, PRESERVED SPEECH VARIANT, Cohort Studies, YOUNG GIRLS, AGE, Rett syndrome, Child Development, Journal Article, PARENTS CONCERNS, Humans, longiturinal stury, FRAGILE-X-SYNDROME, AUTISM, Child, parent interveiws, Brief Report, parent interviews, Communication, longitudinal study, early development, prodrome, Affect, Phenotype, Early Diagnosis, Female, Sleep, Birth cohort

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::08728aa7debe0716e0fd2920637a7e9eTest
https://vbn.aau.dk/ws/files/286104509/Early_development_in_Rett_syndrome_the_benefits_and_difficulties_of_a_birth_cohort_approach.pdfTest

المؤلفون: Luise Poustka, Peter B. Marschik, Christa Einspieler, Sven Bölte, Gillian S. Townend, Katrin D. Bartl-Pokorny, Leopold M.G. Curfs, Jeff Sigafoos

المساهمون: Bioinformatica, Klinische Genetica, Health Services Research, MUMC+: DA KG Polikliniek (9), RS: CAPHRI School for Public Health and Primary Care, RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Research in Developmental Disabilities, 43-44, 80-86. Elsevier Science

مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, Family videos, Home videos, Video Recording, INFANTS, Rett syndrome, CHILDREN, Social awareness, Audiology, BEHAVIORS, Article, Developmental psychology, Child Development, MECP2 MUTATION, Developmental and Educational Psychology, medicine, Preserved speech variant, Humans, VIDEO ANALYSIS, Interpersonal Relations, Social Behavior, Retrospective Studies, AUTISM SPECTRUM DISORDER, EARLY RECOGNITION, Infant, medicine.disease, Response to name, Retrospective video analysis, Clinical Psychology, Autism spectrum disorder, Child, Preschool, GIRLS, Female, Psychology, HOME VIDEOTAPES, MENTAL-RETARDATION, circulatory and respiratory physiology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c0ad43911e417b3901edbb57b85aac1Test
https://doi.org/10.1016/j.ridd.2015.06.008Test

المؤلفون: Children's Hospital of Philadelphia, University of Colorado, Denver, Boston Children's Hospital, Vanderbilt University, University of South Florida, International Rett Syndrome Foundation Rettsyndrome.org, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

المساهمون: Alan Percy, Principal Investigator

المصدر: Gandal MJ, Edgar JC, Ehrlhman RS, Mehta M, Roberts TP, Sgel SJ. Valatg gamma osclatns and delayed audory responses as translatnal bmarkers of autm. Bl Psychtry. 2010 Dec 15;68(12):1100-6. do 10.1016/j.bpsych.2010.09.031.
Peters SU, Gordon RL, Key AP. duced gamma osclatns dferentte famr and novel voes chdren wh MECP2 duplatn and Rett syndromes. J Chd Neurol. 2015 Feb;30(2):145-52. do 10.1177/0883073814530503. Epub 2014 Apr 27.
Deregnr RA, Nelson CA, Thomas KM, Wewerka S, Georgff MK. Neurophyslog evaluatn of audory recognn memory healthy newborn fants and fants of dbet mothers. J Pedtr. 2000 Dec;137(6):777-84. do 10.1067/mpd.2000.109149.
Rojas DC, Teale PD, Maharajh K, Kronberg E, Youngpeter K, Wson LB, Wallace A, Hepburn S. Transnt and steady-state audory gamma-band responses fst-degree relates of people wh autm spectrum dorder. Mol Autm. 2011 Jul 5;2:11. do 10.1186/2040-2392-2-11.
Lo W, Gandal MJ, Ehrlhman RS, Sgel SJ, Carlson GC. MeCP2+/- mouse model of RTT reproduces audory phenotypes assocted wh Rett syndrome and replate select EEG endophenotypes of autm spectrum dorder. Neurobl D. 2012 Apr;46(1):88-92. do 10.1016/j.nbd.2011.12.048. Epub 2012 Jan 9.
LeBlanc JJ, DeGregor G, Centofante E, Vogel-Farley VK, Barnes K, Kaufmann WE, FaglM, Nelson CA. Vual evoked potentls detect cortal processg defs Rett syndrome. Ann Neurol. 2015 Nov;78(5):775-86. do 10.1002/ana.24513. Epub 2015 Sep 18.
Khwaja OS, Ho E, Barnes KV, O'Leary HM, Perea LM, Fkelste Y, Nelson CA 3rd, Vogel-Farley V, DeGregor G, Holm , Khatwa U, Kapur K, Alexander ME, Fnegan DM, Cantwell NG, Walco AC, Rappaport L, Gregas M, Fhorova RN, Shannon MW, Sur M, Kaufmann WE. Safety, pharmacokets, and prelary assessment of effacy of mecaserm (recombant human F-1) for the treatment of Rett syndrome. Proc Natl Acad ScU S A. 2014 Mar 25;111(12):4596-601. do 10.1073/pnas.1311141111. Epub 2014 Mar 12.
Larore JL, Chapleau CA, Kudo S, Theert A, Percy AK, Pozzo-Mler L. Bdnf overexpressn hpocampal neurons prevents dendr atrophy caused by Rett-assocted MECP2 mutatns. Neurobl D. 2009 May;34(2):199-211. do 10.1016/j.nbd.2008.12.011. Epub 2009 Jan 3.
Blackman MP, Djuk B, Nelson SB, Turrno GG. A cral and cell-autonomous role for MeCP2 synapt scalg up. J Neurosc 2012 Sep 26;32(39):13529-36. do 10.1523/JNEUROSC3077-12.2012.
Stuss DP, Boyd JD, Lev DB, Delaney KR. MeCP2 mutatn results compartment-spec reductns dendr branchg and spe densy layer 5 motor cortal neurons of YFP-H me. PLoS One. 2012;7(3):e31896. do 10.1371/journal.pone.0031896. Epub 2012 Mar 7.
Kaufmann WE, Johnston MV, Blue ME. MeCP2 expressn and functn durg bra development: platns for Rett syndrome's pathogenes and clal evolutn. Bra Dev. 2005 Nov;27 Suppl 1:S77-S87. do 10.1016/j.bradev.2004.10.008. Epub 2005 Sep 22.
Na ES, Nelson ED, AdachM, Autry AE, Mahgoub MA, KavalalET, Montegg LM. A mouse model for MeCP2 duplatn syndrome: MeCP2 overexpressn pas learng and memory and synapt transmsn. J Neurosc 2012 Feb 29;32(9):3109-17. do 10.1523/JNEUROSC6000-11.2012.
Wang , Allen M, Goff D, Zhu X, Faless AH, Brodk ES, Sgel SJ, Marsh ED, Blendy JA, Zhou Z. Loss of CDKL5 drupts kome profe and event-related potentls leadg to autt-le phenotypes me. Proc Natl Acad ScU S A. 2012 Dec 26;109(52):21516-21. do 10.1073/pnas.1216988110. Epub 2012 Dec 10.
Na ES, Nelson ED, KavalalET, Montegg LM. The pact of MeCP2 loss- or ga-of-functn on synapt plasty. Neuropsychopharmacology. 2013 Jan;38(1):212-9. do 10.1038/npp.2012.116. Epub 2012 Jul 11.
Chao HT, ZoghbHY, Rosenmund C. MeCP2 controls excatory synapt strength by regulatg glutamaterg synapse number. Neuron. 2007 Oct 4;56(1):58-65. do 10.1016/j.neuron.2007.08.018.
17. Wechsler DL (1991). The Wechsler tellence Scale for Chdren - San Anton: The Psychologal Corporatn.
18. Reh MJ, Shayka T, Taleson C (1991) The Dgnost tervw for Chdren and Adolescents-Reved. St Lou: Washgton Unersy Press.
Neul JL, Fang P, Barrh J, Lane J, Caeg EB, Smh EO, ZoghbH, Percy A, Glaze DG. Spec mutatns methyl-CpG-bdg prote 2 confer dferent severy Rett syndrome. Neurology. 2008 Apr 15;70(16):1313-21. do 10.1212/01.wnl.0000291011.54508.aa. Epub 2008 Mar 12.
Bebbgton A, Anderson A, Rave D, Fyfe S, Peda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H. vestatg genotype-phenotype relatnshs Rett syndrome usg an ternatnal data set. Neurology. 2008 Mar 11;70(11):868-75. do 10.1212/01.wnl.0000304752.50773.ec.
Cuddapah VA, PlaRB, Shekar KV, Lane JB, Mot KJ, Skner SA, Tarqu DC, Glaze DG, McGw G, Kaufmann WE, Percy AK, Neul JL, Olsen ML. Methyl-CpG-bdg prote 2 (MECP2) mutatn type assocted wh dease severy Rett syndrome. J Med Genet. 2014 Mar;51(3):152-8. do 10.1136/jmedgenet-2013-102113. Epub 2014 Jan 7.
Goff D, Allen M, Zhang L, Amor M, Wang , Reyes AR, Mercado-Berton A, Ong C, Cohen S, Hu L, Blendy JA, Carlson GC, Sgel SJ, Greenberg ME, Zhou Z. Rett syndrome mutatn MeCP2 T158A drupts DNA bdg, prote staby and ERP responses. Nat Neurosc 2011 Nov 27;15(2):274-83. do 10.1038/nn.2997.
McLeod F, Ganley R, Wlms L, Selfrge J, Bd A, Cobb SR. Reduced seure threshold and altered network osclatory properts a mouse model of Rett syndrome. Neuroscnce. 2013 Feb 12;231:195-205. do 10.1016/j.neuroscnce.2012.11.058. Epub 2012 Dec 10.
Pln JP, Nau S. Audory brastem response fdgs Rett syndrome: staby over te. J Pedtr. 2000 Sep;137(3):393-6. do 10.1067/mpd.2000.107952.
D'Cruz JA, Wu C, Zah T, El-Hayek Y, Zhang L, Eubanks JH. Alteratns of cortal and hpocampal EEG acty MeCP2-defnt me. Neurobl D. 2010 Apr;38(1):8-16. do 10.1016/j.nbd.2009.12.018. Epub 2010 Jan 4.
Delorme A, Make S. EEGLAB: an open source toolbox for analys of sgle-trl EEG dynams cludg dependent component analys. J NeuroscMethods. 2004 Mar 15;134(1):9-21. do 10.1016/j.jneumeth.2003.10.009.
Brown MW 3rd, Porter BE, Dlugos DJ, Keatg J, Gardner AB, Storm PB Jr, Marsh ED. Comparon of novel computer detectors and human performance for spe detectn tracranl EEG. Cl Neurophysl. 2007 Aug;118(8):1744-52. do 10.1016/j.clph.2007.04.017. Epub 2007 Jun 1.
Rett Syndrome, MECP2 Duplication, and Rett-Related Disorders Consortium, Rare Disease Clinical Research Network: Neurophysiologic Correlates

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT03077308Test

المؤلفون: Claudio De Felice, Thierry Durand, Francesco Scalabrì, Silvia Leoncini, Stefania Filosa, Lucia Ciccoli, Jacky Guy, Floriana Della Ragione, Alexandre Guy, Camille Oger, Bianca De Filippis, Jean-Marie Galano, Laura Ricceri, Joussef Hayek, Giovanni Laviola, Giuseppe Valacchi, Cinzia Signorini, Federico Marracino, Giuseppe Belmonte, Michele Madonna, Maurizio D'Esposito, Alessandra Pecorelli, Valérie Bultel-Poncé

المساهمون: Neonatal Intensive Care Unit, Azienda Ospedaliera Universitaria Senese, Institute of Genetics and Biophysics Adriano Buzzati-Traverso (IGB), Consiglio Nazionale delle Ricerche [Roma] (CNR), Istituto Neurologico Mediterraneo Neuromed (IRCCS), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Child Neuropsychiatry Unit, Università degli Studi di Siena = University of Siena (UNISI), Department of Cell biology and Neuroscience (ISS), Istituto Superiore di Sanita [Rome], Department of Life Sciences and Biotechnologies, Università degli Studi di Ferrara (UniFE), Institut des Biomolécules Max Mousseron [Pôle Chimie Balard] (IBMM), Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Montpellier (UM)-Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM), Wellcome Trust Centre for Cell Biology, University of Edinburgh, Bando Salute 2009 project no. TR142 Italy, Italian Association for Rett Syndrome (AIR, call 2011), UE Initial Training Network project no. 238242 'DISCHROM', EPIGENOMICS flagship project EPIGEN, IRE-IFO (RF 2008) 'MECP2 phosphorylation and related kinase in Rett syndrome' to GL., Tuscany Region Italy

المصدر: Neurobiology of Disease
Neurobiology of Disease, Elsevier, 2014, 68, pp.66-77. ⟨10.1016/j.nbd.2014.04.006⟩
Neurobiology of Disease, Vol 68, Iss, Pp 66-77 (2014)
Neurobiology of disease 68 (2014): 66–77. doi:10.1016/j.nbd.2014.04.006
info:cnr-pdr/source/autori:De Felice C.; Della Ragione F.; Signorini C.; Leoncini S.; Pecorelli A.; Ciccoli L.; Scalabri F.; Marracino F.; Madonna M.; Belmonte G.; Ricceri L.; De Filippis B.; Laviola G.; Valacchi G.; Durand T.; Galano J.-M.; Oger C.; Guy A.; Bultel-Ponce V.; Guy J.; Filosa S.; Hayek J.; D'Esposito M./titolo:Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome/doi:10.1016%2Fj.nbd.2014.04.006/rivista:Neurobiology of disease/anno:2014/pagina_da:66/pagina_a:77/intervallo_pagine:66–77/volume:68

مصطلحات موضوعية: Male, IsoPs, isoprostanes, Methyl-CpG-Binding Protein 2, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, DHA, docosahexaenoic acid, Isoprostanes, medicine.disease_cause, Mecp2 stop/y, Lox/stop pre-symptomatic hemizygous mice, Pathogenesis, F4-NeuroPs, F4-neuroprostanes, Nestin, Mice, 0302 clinical medicine, Neurodevelopmental disorder, Rett syndrome, Mecp2 308/x, symptomatic Mecp2 308-mutated females, Mecp2 stop/y NestinCre, rescued Lox/stop mice (Mecp2 reactivated in the nervous tissue), CRE, Cre-Recombinase, wt-Cre, wild type expressing Cre recombinase, Genetics, 0303 health sciences, Mutation, Arachidonic Acid, Mecp2, methyl-CpG-binding protein 2 — mouse protein, 4-HNE PAs, 4-HNE protein adducts, MECP2, methyl-CpG-binding protein 2 — human gene, 4-HNE PAs, 4-hydroxy-2-nonenal protein adducts, Neurology, OS, oxidative stress, BDNF, brain-derived neurotrophic factor, ASDs, autism spectrum disorders, F2-IsoPs, F2-isoprostanes, Female, wt, wild type, medicine.symptom, AdA, adrenic acid, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Docosahexaenoic Acids, PSV, Preserved Speech Variant, RTT, Rett syndrome, Lipid peroxidation, Mice, Transgenic, Brain damage, Biology, Murine models, Oxidative stress, Article, 4-HNE, 4-hydroxy-2-nonenal, Gas Chromatography-Mass Spectrometry, lcsh:RC321-571, MECP2, 03 medical and health sciences, ROS, reactive oxygen species, Internal medicine, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], mental disorders, medicine, ARA, arachidonic acid, NPBI, non-protein-bound iron, Animals, Neuroprostanes, MeCP2, methyl-CpG-binding protein 2 — human protein, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, 030304 developmental biology, Mecp2, methyl-CpG-binding protein 2 — mouse gene, Aldehydes, Analysis of Variance, F2-dihomo-IsoPs, F2-dihomo-isoprostanes, PUFAs, polyunsaturated fatty acids, Wild type, medicine.disease, nervous system diseases, Mice, Inbred C57BL, Disease Models, Animal, Oxidative Stress, Endocrinology, AUs, arbitrary units, Brain Injuries, Mecp2 308/y, symptomatic Mecp2 308-mutated hemizygous males, 030217 neurology & neurosurgery, Mecp2 −/y, hemizygous null mice

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a02b3097fee569bc3aeeeef210ad36aTest
http://europepmc.org/articles/PMC4076513Test

المؤلفون: Pini, G., Bigoni, S., Congiu, L., Romanelli, A. M., Scusa, M. F., Di Marco, P., Benincasa, A., Morescalchi, P., Ferlini, A., Bianchi, F., Tropea, D., Zappella, M.

المساهمون: Pini, G., Bigoni, S., Congiu, L., Romanelli, A. M., Scusa, M. F., Di Marco, P., Benincasa, A., Morescalchi, P., Ferlini, A., Bianchi, F., Tropea, D., Zappella, M.

مصطلحات موضوعية: ARTT-NOS: Atypical RTT-not otherwise specified, CDKL5: Cyclin dependent kinase-like 5, FOXG1: Forkhead box G1, MECP2: Methyl CpG binding protein 2, RTT: Rett syndrome, Z-RTT: Preserved speech variant or "Zappella variant", Genetics (clinical), Pharmacology (medical)

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27682832; info:eu-repo/semantics/altIdentifier/wos/WOS:000384585900004; volume:11; issue:1; firstpage:1; lastpage:16; numberofpages:16; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11392/2384510Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84990842071; http://www.ojrd.comTest/

الإتاحة: https://doi.org/10.1186/s13023-016-0499-7Test
http://hdl.handle.net/11392/2384510Test
http://www.ojrd.comTest/