The Autosomal Recessive Cerebellar Ataxias

被引：247

作者：

Anheim, Mathieu ^{[1
,2
,3
,4
]}

Tranchant, Christine ^{[5
]}

Koenig, Michel ^{[6
,7
]}

机构：

[1] Hop La Pitie Salpetriere, Assistance Publ Hop Paris, Dept Genet & Cytogenet, Paris, France

[2] Ctr Reference Malad Neurogenet Enfant & Adulte, Paris, France

[3] Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, INSERM,Unite Mixte Rech Sci S975, Paris, France

[4] Ctr Natl Rech Sci, Unite Mixte Rech Sci 7225, Paris, France

[5] Univ Hosp Strasbourg, Dept Neurol, Strasbourg, France

[6] Univ Hosp Strasbourg, Lab Diagnost Genet, Nouvel Hop Civil, Strasbourg, France

[7] Univ Strasbourg, Inst Genet & Biol Mol & Cellulaire, Ctr Natl Rech Sci, INSERM, Illkirch Graffenstaden, France

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2012年 / 366卷 / 07期

关键词：

OCULOMOTOR APRAXIA TYPE-2; PLACEBO-CONTROLLED TRIAL; TRIPLET REPEAT EXPANSION; VITAMIN-E-DEFICIENCY; FRIEDREICHS-ATAXIA; PHENOTYPIC VARIABILITY; MOLECULAR-GENETICS; CLINICAL-FEATURES; REFSUMS-DISEASE; SPASTIC ATAXIA;

D O I：

10.1056/NEJMra1006610

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：636 / 646

页数：11

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