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The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Hum Genomics. 2023 Nov 16;17(1):102. doi: 10.1186/s40246-023-00549-6.
Hum Genomics. 2023.
PMID: 37968704
Free PMC article.
Fragile X premutation mimicking late onset hereditary spastic paraplegia.
Fraiman PHA, Silva TYT, Marussi VHR, de Oliveira JB, Barsottini OGP, Pedroso JL.
Fraiman PHA, et al. Among authors: silva tyt.
Parkinsonism Relat Disord. 2024 Feb;119:105964. doi: 10.1016/j.parkreldis.2023.105964. Epub 2023 Dec 25.
Parkinsonism Relat Disord. 2024.
PMID: 38177000
No abstract available.
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Spinocerebellar Ataxia Type 5 (SCA5) Mimicking Cerebral Palsy: a Very Early Onset Autosomal Dominant Hereditary Ataxia.
Gouvêa LA, Raslan IR, Rosa ABR, Silva TYT, Campos RM, Aragão MM, Barsottini OGP, Pedroso JL.
Gouvêa LA, et al. Among authors: silva tyt.
Cerebellum. 2023 Apr;22(2):316-318. doi: 10.1007/s12311-022-01380-w. Epub 2022 Mar 3.
Cerebellum. 2023.
PMID: 35243593
No abstract available.
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A journey through the history of Neurogenetics.
Silva TYT, Pedroso JL, França Junior MC, Barsottini OGP.
Silva TYT, et al.
Arq Neuropsiquiatr. 2021 Oct;79(10):929-932. doi: 10.1590/0004-282X-ANP-2020-0574.
Arq Neuropsiquiatr. 2021.
PMID: 34550174
Free article.
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Clinical Reasoning: A 24-Year-Old Man With Gait Impairment, Hearing Loss, and Recurrent Fever.
Rêgo Barbosa A, de Moraes MPM, Silva TYT, Pedroso JL, Barsottini OGP.
Rêgo Barbosa A, et al. Among authors: silva tyt.
Neurology. 2024 May 14;102(9):e209358. doi: 10.1212/WNL.0000000000209358. Epub 2024 Apr 9.
Neurology. 2024.
PMID: 38593395
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Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia.
Raslan IR, Silva TYT, Kok F, Rodrigues MM, Aragão MM, Pinho RS, França MC Jr, Barsottini OG, Pedroso JL.
Raslan IR, et al. Among authors: silva tyt.
Neurol Genet. 2024 Apr 23;10(3):e200153. doi: 10.1212/NXG.0000000000200153. eCollection 2024 Jun.
Neurol Genet. 2024.
PMID: 38681507
Free PMC article.
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Hereditary motor and sensory neuropathy Okinawa type mimicking proximal myopathy.
Braga VL, Tamanini JVG, Gama SM, Fraiman PHA, Silva TYT, Santos-Neto D, Barsottini OGP, Pedroso JL.
Braga VL, et al. Among authors: silva tyt.
Clin Neurol Neurosurg. 2024 Apr;239:108213. doi: 10.1016/j.clineuro.2024.108213. Epub 2024 Feb 28.
Clin Neurol Neurosurg. 2024.
PMID: 38479034
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Teaching Video NeuroImage: TWNK Mutation Causes Chronic Progressive External Ophthalmoplegia and Cerebellar Ataxia: A POLG-Like Phenotype.
Fraiman PHA, Silva TYT, Pedroso JL, Barsottini OGP.
Fraiman PHA, et al. Among authors: silva tyt.
Neurology. 2024 Mar 12;102(5):e209186. doi: 10.1212/WNL.0000000000209186. Epub 2024 Feb 5.
Neurology. 2024.
PMID: 38315955
No abstract available.
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