Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments

被引：6

作者：

Magariello, A. ^{[1
]}

Russo, C. ^{[2
]}

Citrigno, L. ^{[1
]}

Zuchner, S. ^{[3
,4
]}

Patitucci, A. ^{[1
]}

Mazzei, R. ^{[1
]}

Conforti, F. L. ^{[1
]}

Ferlazzo, E. ^{[2
]}

Aguglia, U. ^{[2
,5
]}

Muglia, M. ^{[1
]}

机构：

[1] CNR, Inst Neurol Sci, I-87050 Mangone, Cosenza, Italy

[2] Bianchi Melacrino Morelli Hosp, Reg Epilepsy Ctr, Reggio Di Calabria, Italy

[3] Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USA

[4] Univ Miami, Miller Sch Med, Hussman Inst Human Gen, Miami, FL 33136 USA

[5] Magna Graecia Univ Catanzaro, Dept Med & Surg Sci, Catanzaro, Italy

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2017年 / 372卷

关键词：

Hereditary Spastic Paraplegia; SPG35; Exome sequencing; FA2H gene; SPG35;

D O I：

10.1016/j.jns.2016.11.069

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：347 / 349

页数：3

共 45 条

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[42] Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency
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[43] Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency
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[44] BSCL2 mutations in two Italian families cause overlapping spastic paraplegia-distal hereditary motor neuropathy phenotypes: One novel mutation and evidence for reduced penetrance and interfamilial phenotypic variability
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JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2007, 12 (02) : 162 - 162
[45] New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy
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