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Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Neurol Genet. 2022 Mar 30;8(2):e664. doi: 10.1212/NXG.0000000000000664. eCollection 2022 Apr.
Neurol Genet. 2022.
PMID: 35372684
Free PMC article.
A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment.
Kawarai T, Yamazaki H, Yamakami K, Tsukamoto-Miyashiro A, Kodama M, Rumore R, Caltagirone C, Nishino I, Orlacchio A.
Kawarai T, et al. Among authors: rumore r.
J Neurol Sci. 2020 Feb 15;409:116584. doi: 10.1016/j.jns.2019.116584. Epub 2019 Nov 20.
J Neurol Sci. 2020.
PMID: 31783324
No abstract available.
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Identification of new candidate genes for spina bifida through exome sequencing.
Azzarà A, Rendeli C, Crivello AM, Brugnoletti F, Rumore R, Ausili E, Sangiorgi E, Gurrieri F.
Azzarà A, et al. Among authors: rumore r.
Childs Nerv Syst. 2021 Aug;37(8):2589-2596. doi: 10.1007/s00381-021-05153-4. Epub 2021 Apr 15.
Childs Nerv Syst. 2021.
PMID: 33855610
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Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers.
Sangiorgi E, Azzarà A, Rumore R, Cassano I, Verrecchia E, Giacò L, Tullio MA, Gurrieri F, Manna R.
Sangiorgi E, et al. Among authors: rumore r.
Genes (Basel). 2023 Jun 21;14(7):1310. doi: 10.3390/genes14071310.
Genes (Basel). 2023.
PMID: 37510214
Free PMC article.
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RADX Gene Variant May Predispose to Familial Asperger Syndrome.
Azzarà A, Rumore R, Brugnoletti F, Tabolacci E, Bottillo I, Sangiorgi E, Gurrieri F.
Azzarà A, et al. Among authors: rumore r.
Genes (Basel). 2023 Jan 23;14(2):301. doi: 10.3390/genes14020301.
Genes (Basel). 2023.
PMID: 36833228
Free PMC article.
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