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NEURON (2018)
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M. Rydzanicz et al.
CLINICAL GENETICS (2017)
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Zhang-Yu Zou et al.
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Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis
Ayumi Nishiyama et al.
NEUROBIOLOGY OF AGING (2017)
KIF5A Mutations Cause an Infantile Onset Phenotype Including Severe Myoclonus with Evidence of Mitochondrial Dysfunction
Jessica Duis et al.
ANNALS OF NEUROLOGY (2016)
Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort
Ryoichi Nakamura et al.
NEUROBIOLOGY OF AGING (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Factors affecting longitudinal functional decline and survival in amyotrophic lateral sclerosis patients
Hazuki Watanabe et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2015)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
State of play in amyotrophic lateral sclerosis genetics
Alan E. Renton et al.
NATURE NEUROSCIENCE (2014)
Extended phenotypic spectrum of KIF5A mutations
Yo-Tsen Liu et al.
NEUROLOGY (2014)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Elisa Majounie et al.
LANCET NEUROLOGY (2012)
Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis
Kotaro Ogaki et al.
NEUROBIOLOGY OF AGING (2012)
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
Antonio Orlacchio et al.
BRAIN (2010)
Kinesin superfamily motor proteins and intracellular transport
Nobutaka Hirokawa et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2009)
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
E Reid et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
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T Rezaie et al.
SCIENCE (2002)
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)