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。Novel Variants in the FIG4 Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression
Chang-Yun Liu et al.
JOURNAL OF CLINICAL NEUROLOGY (2022)
Case Report: Association of a Variant of Unknown Significance in the FIG4 Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Common Challenges in Clinical and Genetic Diagnostics of Rare Neuropsychiatric and Neurologic Disorders
Caroline Gertrud Bergner et al.
FRONTIERS IN NEUROSCIENCE (2020)
New FIG4 gene mutations causing aggressive ALS
C. Bertolin et al.
EUROPEAN JOURNAL OF NEUROLOGY (2018)
Amyotrophic Lateral Sclerosis: An Update for 2018
Bjorn Oskarsson et al.
MAYO CLINIC PROCEEDINGS (2018)
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients
Merit Lamp et al.
NEUROBIOLOGY OF AGING (2018)
Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients
Hang Zhang et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2018)
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study
Alma Osmanovic et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Decoding ALS: from genes to mechanism
J. Paul Taylor et al.
NATURE (2016)
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Elizabeth T. Cirulli et al.
SCIENCE (2015)
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria
Stephanie Baulac et al.
NEUROLOGY (2014)
ALS-associated protein FIG4 is localized in Pick and Lewy bodies, and also neuronal nuclear inclusions, in polyglutamine and intranuclear inclusion body diseases
Tomoya Kon et al.
NEUROPATHOLOGY (2014)
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4
Garth Nicholson et al.
BRAIN (2011)
Deleterious Variants of FIG4. a Phosphoinositide Phosphatase, in Patients with ALS
Clement Y. Chow et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
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)
分享论文
