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Hypotonic cerebral palsy.
Cooper MS, Antolovich GC, Fahey MC, Amor DJ. Cooper MS, et al. Child Care Health Dev. 2024 May;50(3):e13258. doi: 10.1111/cch.13258. Child Care Health Dev. 2024. PMID: 38558298 No abstract available.
IREB2-associated neurodegeneration.
Cooper MS, Stark Z, Lunke S, Zhao T, Amor DJ. Cooper MS, et al. Brain. 2019 Aug 1;142(8):e40. doi: 10.1093/brain/awz183. Brain. 2019. PMID: 31243445 No abstract available.
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.
Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, Piton A, Vincent-Delorme C, Zweier C, Reis A, Trollmann R, Ruiz A, Gabau E, Vetro A, Guerrini R, Bakhtiari S, Kruer MC, Amor DJ, Cooper MS, Bijlsma EK, Barakat TS, van Dooren MF, van Slegtenhorst M, Pfundt R, Gilissen C, Willemsen MA, de Vries BBA, de Brouwer APM, Koolen DA. Nabais Sá MJ, et al. Among authors: cooper ms. Genet Med. 2020 Apr;22(4):797-802. doi: 10.1038/s41436-019-0703-y. Epub 2019 Nov 28. Genet Med. 2020. PMID: 31776469 Free article.
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T. Wagner M, et al. Among authors: cooper ms. Genet Med. 2020 Jun;22(6):1061-1068. doi: 10.1038/s41436-020-0768-7. Epub 2020 Feb 26. Genet Med. 2020. PMID: 32099069 Free article.
Making waves: The changing tide of cerebral palsy.
Cooper MS, Fahey MC, Mackay MT. Cooper MS, et al. J Paediatr Child Health. 2022 Nov;58(11):1929-1934. doi: 10.1111/jpc.16186. Epub 2022 Sep 6. J Paediatr Child Health. 2022. PMID: 36066306 Free PMC article.
Perioperative Care of Children with Severe Neurological Impairment and Neuromuscular Scoliosis-A Practical Pathway to Optimize Peri-Operative Health and Guide Decision Making.
Antolovich GC, Cooper MS, Johnson MB, Lundine K, Yang Y, Frayman K, Vandeleur M, Sutherland I, Peachey D, Gadish T, Turner B, Harvey A. Antolovich GC, et al. Among authors: cooper ms. J Clin Med. 2022 Nov 16;11(22):6769. doi: 10.3390/jcm11226769. J Clin Med. 2022. PMID: 36431246 Free PMC article. Review.
224 results