New FIG4 gene mutations causing aggressive ALS

被引：17

作者：

Bertolin, C. ^{[1
]}

Querin, G. ^{[1
]}

Bozzoni, V. ^{[1
]}

Martinelli, I. ^{[1
]}

De Bortoli, M. ^{[2
]}

Rampazzo, A. ^{[2
]}

Gellera, C. ^{[3
]}

Pegoraro, E. ^{[1
]}

Soraru, G. ^{[1
]}

机构：

[1] Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, Italy

[2] Univ Padua, Dept Biol, Padua, Italy

[3] IRCCS Fdn, C Besta Neurol Inst, Dept Clin Neurosci, Clin Cent & Peripheral Degenerat Neuropathies Uni, Milan, Italy

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2018年 / 25卷 / 03期

关键词：

amyotrophic lateral sclerosis; FIG4; mutation; PHOSPHOINOSITIDE PHOSPHATASE; VARIANTS;

D O I：

10.1111/ene.13559

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：E41 / E42

页数：2

共 7 条

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[3] Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing [J].

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[5] Yunis-Varon syndrome caused by biallelic VAC14 mutations [J].

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