南美洲常染色体隐性遗传性小脑共济失调：1338例患者的多中心研究 - Suppr

Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients.

作者信息

Gama Maria Thereza D, Braga-Neto Pedro, Rangel Deborah M, Godeiro Clécio, Alencar Rodrigo, Embiruçu Emília K, Cornejo-Olivas Mario, Sarapura-Castro Elison, Saffie Awad Paula, Muñoz Chesta Daniela, Kauffman Marcelo, Rodriguez-Quiroga Sergio, Jardim Laura B, da Graça Felipe F, França Marcondes C, Tomaselli Pedro J, Marques Wilson, Teive Helio A G, Barsottini Orlando G P, Pedroso José Luiz, Synofzik Matthis

机构信息

Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.

Neurology Section, Department of Clinical Medicine, Faculty of Medicine, Federal University of Ceará (UFC), Fortaleza, Brazil.

出版信息

Mov Disord. 2022 Aug;37(8):1773-1774. doi: 10.1002/mds.29046. Epub 2022 May 4.

DOI:10.1002/mds.29046

PMID:35507441

Abstract

摘要

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Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients.南美洲常染色体隐性遗传性小脑共济失调：1338例患者的多中心研究

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Autosomal recessive cerebellar ataxias: the current state of affairs.常染色体隐性小脑共济失调：现状。

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Autosomal recessive cerebellar ataxias.常染色体隐性遗传性小脑共济失调

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The autosomal recessive cerebellar ataxias.常染色体隐性遗传性小脑共济失调

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Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.对 12.5Mb 纯合区域的靶向下一代测序揭示了常染色体隐性小脑共济失调患者的 ANO10 突变。

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Rare forms of autosomal recessive neurodegenerative ataxia.常染色体隐性神经退行性共济失调的罕见类型。

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Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients.

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