المؤلفون: Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey

مصطلحات موضوعية: Medicine, Cell Biology, Genetics, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, typical clinical presentation, single individual carried, major challenge remains, magnetic resonance imaging, heterogeneous somatic anomalies, additional phenotypic anomalies, >) definitively linking, 7 years diagnosed, interrupted pituitary stalk, ectopic posterior pituitary, anterior pituitary hypoplasia, rare disorder characterized, novel missense variants, 1 case ), growth hormone deficiency, 16 sporadic patients, performed exome sequencing, identify pathogenic variants, div >< p, also identified variants, 2 cases )), 13 patients variants, holoprosencephaly associated genes, 16 patients

Relation: https://figshare.com/articles/dataset/Phenotypes_of_16_patients_with_PSIS_analysed_by_exome_sequencing_/24810270

الاتاحة: https://doi.org/10.1371/journal.pone.0292664.t001
https://figshare.com/articles/dataset/Phenotypes_of_16_patients_with_PSIS_analysed_by_exome_sequencing_/24810270

المؤلفون: Lai SL, Abramzon Y, Schymick JC, Stephan DA, Dunckley T, Dillman A, Cookson M, Battistini S, Giannini F, Caponnetto C, Mancardi GL, Spataro R, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Lombardo F, the ITALSGEN Consortium, Mora G, Restagno G, Traynor BJ, CALVO, Andrea, CHIO', Adriano

المساهمون: Lai SL, Abramzon Y, Schymick JC, Stephan DA, Dunckley T, Dillman A, Cookson M, Calvo A, Battistini S, Giannini F, Caponnetto C, Mancardi GL, Spataro R, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Lombardo F, the ITALSGEN Consortium, Mora G, Restagno G, Chiò A, Traynor BJ

مصطلحات موضوعية: ALS, FUS mutation, sporadic patients

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/20138404; info:eu-repo/semantics/altIdentifier/wos/WOS:000289944800030; volume:32 (3); firstpage:550.e1; lastpage:550.e4; numberofpages:4; journal:NEUROBIOLOGY OF AGING; http://hdl.handle.net/2318/78239; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79952900483

الاتاحة: http://hdl.handle.net/2318/78239
https://doi.org/10.1016/j.neurobiolaging.2009.12.020

المؤلفون: Amelia Conte, Mario Sabatelli, Maria Rosaria Monsurrò, Travis Dunckley, Ilaria Bartolomei, Yevgeniya Abramzon, Gabriella Restagno, Kalliopi Marinou, Shiao Lin Lai, Patrizia Sola, Gioacchino Tedeschi, Fabio Giannini, Mark R. Cookson, Allissa Dillman, Giovanni Luigi Mancardi, Fabrizio Salvi, Rossella Spataro, Dietrich A. Stephan, Gabriele Mora, Claudia Caponnetto, Adriano Chiò, Bryan J. Traynor, Jessica Mandrioli, Andrea Calvo, Stefania Battistini, Federica Lombardo, Jennifer C. Schymick

المساهمون: Lai, Sl, Abramzon, Y, Schymick, Jc, Stephan, Da, Dunckley, T, Dillman, A, Cookson, M, Calvo, A, Battistini, S, Giannini, F, Caponnetto, C, Mancardi, Gl, Spataro, R, Monsurro', Maria Rosaria, Tedeschi, Gioacchino, Marinou, K, Sabatelli, M, Conte, A, Mandrioli, J, Sola, P, Salvi, F, Bartolomei, I, Lombardo, F, the ITALSGEN, Consortium, Mora, G, Restagno, G, Chiò, A, Traynor, B. J., Lai, SL, Schymick, JC, Stephan, DA, Dunckley,T, Mancardi, GL, Monsurro, MR, Tedeschi, G, ITALSGEN Consortium, Traynor, BJ

مصطلحات موضوعية: Adult, Male, Aging, Amyotrophic lateral sclerosis, FUS, Italy, Sporadic disease, United States of America, Adolescent, Genotype, sporadic patients, DNA Mutational Analysis, ALS, FUS mutations, Biology, medicine.disease_cause, Article, Pathogenesis, Exon, Young Adult, medicine, Humans, Child, Gene, Aged, Genetics, Aged, 80 and over, Mutation, General Neuroscience, Amyotrophic Lateral Sclerosis, amyotrophic lateral sclerosis, FUS, genetics, Exons, Middle Aged, medicine.disease, United States, Settore MED/26 - NEUROLOGIA, RNA-Binding Protein FUS, Female, Neurology (clinical), Geriatrics and Gerontology, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a65e78eb78b42c62bbc1050de435d8d
http://hdl.handle.net/2318/78239