Dystonia: A novel sign of the Smith-Magenis syndrome - A three-case report
Status PubMed-not-MEDLINE Jazyk angličtina Země Velká Británie, Anglie Médium electronic-ecollection
Typ dokumentu kazuistiky, časopisecké články
PubMed
39224875
PubMed Central
PMC11367135
DOI
10.1016/j.prdoa.2024.100267
PII: S2590-1125(24)00038-0
Knihovny.cz E-zdroje
- Klíčová slova
- Case report, Dystonia, Genetic disorder, Smith-Magenis syndrome,
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Institute for Advanced Study Technical University of Munich Garching Germany
Institute of Human Genetics School of Medicine Technical University of Munich Munich Germany
Institute of Neurogenomics Helmholtz Zentrum München Munich Germany
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Smith A.C., McGavran L., Robinson J., Waldstein G., Macfarlane J., Zonona J., Reiss J., Lahr M., Allen L., Magenis E. Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am. J. Med. Genet. 1986;24(3):393–414. PubMed
A. Smith, K. Boyd, C. Brennan, Smith-Magenis Syndrom, GeneReviews® (2001).
Gropman A.L., Duncan W.C., Smith A.C. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2) Pediatr Neurol. 2006;34(5):337–350. PubMed
Girirajan S., Vlangos C.N., Szomju B.B., Edelman E., Trevors C.D., Dupuis L., Nezarati M., Bunyan D.J., Elsea S.H. Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genetics in Medicine. 2006;8(7):417–427. PubMed
C. European, C. Joint Research, M. Lanzoni, S. Martin, M. Delobel, V. Ehlinger, A. Kinsner-Ovaskainen, C. Arnaud, Surveillance of cerebral palsy in Europe – Development of the JRC-SCPE central database and public health indicators, Publications Office2017.
Turco E.M., Giovenale A.M.G., Sireno L., Mazzoni M., Cammareri A., Marchioretti C., Goracci L., Di Veroli A., Marchesan E., D’Andrea D., Falconieri A., Torres B., Bernardini L., Magnifico M.C., Paone A., Rinaldo S., Della Monica M., D’Arrigo S., Postorivo D., Nardone A.M., Zampino G., Onesimo R., Leoni C., Caicci F., Raimondo D., Binda E., Trobiani L., De Jaco A., Tata A.M., Ferrari D., Cutruzzolà F., Mazzoccoli G., Ziviani E., Pennuto M., Vescovi A.L., Rosati J. Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome. Cell Death & Disease. 2022;13(11):981. PubMed PMC
Gonzalez-Latapi P., Marotta N., Mencacci N.E. Emerging and converging molecular mechanisms in dystonia. J. Neural. Transm. (Vienna) 2021;128(4):483–498. PubMed
Jinnah H.A., Neychev V., Hess E.J. The Anatomical Basis for Dystonia: The Motor Network Model. Tremor Other Hyperkinet Mov (N Y) 2017;7:506. PubMed PMC
Dzinovic I., Winkelmann J., Zech M. Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing. Parkinsonism Relat. Disord. 2022;102:131–140. PubMed
Zech M., Jech R., Boesch S., Škorvánek M., Necpál J., Švantnerová J., Wagner M., Sadr-Nabavi A., Distelmaier F., Krenn M., Serranová T., Rektorová I., Havránková P., Mosejová A., Příhodová I., Šarláková J., Kulcsarová K., Ulmanová O., Bechyně K., Ostrozovičová M., Haň V., Ventosa J.R., Brunet T., Berutti R., Shariati M., Shoeibi A., Schneider S.A., Kuster A., Baumann M., Weise D., Wilbert F., Janzarik W.G., Eckenweiler M., Mall V., Haslinger B., Berweck S., Winkelmann J., Oexle K. Scoring algorithm-based genomic testing in dystonia: a prospective validation study. Mov. Disord. 2021;36(8):1959–1964. PubMed