4.4 Article

Loss-of-function variants inNEK1are associated with an increased risk of sporadic ALS in the Japanese population

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Clinical Neurology

Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant

Yu-Shuen Tsai et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2020)

Article Clinical Neurology

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS

Hiroya Naruse et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2019)

Article Geriatrics & Gerontology

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients

Hung Phuoc Nguyen et al.

NEUROBIOLOGY OF AGING (2018)

Letter Clinical Neurology

NEK1 mutations in familial amyotrophic lateral sclerosis

David Brenner et al.

Review Clinical Neurology

Amyotrophic lateral sclerosis: recent genetic highlights

Matthew A. White et al.

CURRENT OPINION IN NEUROLOGY (2016)

Review Multidisciplinary Sciences

Decoding ALS: from genes to mechanism

J. Paul Taylor et al.

NATURE (2016)

Article Genetics & Heredity

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kevin P. Kenna et al.

NATURE GENETICS (2016)

Article Multidisciplinary Sciences

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Elizabeth T. Cirulli et al.

SCIENCE (2015)

Review Neurosciences

Dissection of genetic factors associated with amyotrophic lateral sclerosis

Claire S. Leblond et al.

EXPERIMENTAL NEUROLOGY (2014)

Review Neurosciences

State of play in amyotrophic lateral sclerosis genetics

Alan E. Renton et al.

NATURE NEUROSCIENCE (2014)

Article Genetics & Heredity

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

Yuji Takahashi et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Clinical Neurology

C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan

Hiroyuki Ishiura et al.

ARCHIVES OF NEUROLOGY (2012)

Article Clinical Neurology

El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis

BR Brooks et al.

AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS (2000)