Myoclonus in ataxia-telangiectasia. - Wikidata - awgldk - TriplyDB

Myoclonus in ataxia-telangiectasia.

Myoclonus in ataxia-telangiectasia.

http://www.wikidata.org/entity/Q41907292

about

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes Ataxia telangiectasia: a review Recent advances in genetics of chorea

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Myoclonus in ataxia-telangiectasia.

http://www.wikidata.org/entity/Q41907292

description

2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

@zh-hk

2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Myoclonus in ataxia-telangiectasia.

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type

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Myoclonus in ataxia-telangiectasia.

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Myoclonus in ataxia-telangiectasia.

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Tremor and other hyperkinetic movements

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Myoclonus in ataxia-telangiectasia

@en

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Pichet Termsarasab

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P2860

Disorders of Upper Limb Movements in Ataxia-Telangiectasia

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.

Progressive myoclonic ataxia associated with coeliac disease. The myoclonus is of cortical origin, but the pathology is in the cerebellum.

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.

A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.

Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.

Myoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasia.

(1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy.

Decreased cerebellar fiber density in cortical myoclonic tremor but not in essential tremor.

Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia.

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298

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scholarly article

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10.7916/D88P5Z9X

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5

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2015-03-13T00:00:00Z

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273778207

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25793145

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4365056

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