FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study
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Title
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 25, Issue 3, Pages 324-331
Publisher
Springer Nature
Online
2017-01-04
DOI
10.1038/ejhg.2016.186
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Note: Only part of the references are listed.- Genotype-phenotype correlations of amyotrophic lateral sclerosis
- (2016) Hong-Fu Li et al. Translational Neurodegeneration
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- (2015) Alleene V. Strickland et al. JOURNAL OF NEUROLOGY
- Primary Lateral Sclerosis
- (2015) Jeffrey M. Statland et al. NEUROLOGIC CLINICS
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- (2015) E. T. Cirulli et al. SCIENCE
- A revision of the El Escorial criteria - 2015
- (2015) Albert Ludolph et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes
- (2014) Janet Cady et al. ANNALS OF NEUROLOGY
- Advances in motor neurone disease
- (2014) Dirk Bäumer et al. JOURNAL OF THE ROYAL SOCIETY OF MEDICINE
- Neuroimaging in amyotrophic lateral sclerosis: insights into structural and functional changes
- (2014) Adriano Chiò et al. LANCET NEUROLOGY
- The phenotypic variability of amyotrophic lateral sclerosis
- (2014) Bart Swinnen et al. Nature Reviews Neurology
- Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria
- (2014) S. Baulac et al. NEUROLOGY
- Targeted Exon Capture and Sequencing in Sporadic Amyotrophic Lateral Sclerosis
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- The Edinburgh Cognitive and Behavioural Amyotrophic Lateral Sclerosis Screen: A cross-sectional comparison of established screening tools in a German-Swiss population
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- Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis
- (2013) Carl Friedrich Classen et al. HUMAN GENETICS
- Controversies and priorities in amyotrophic lateral sclerosis
- (2013) Martin R Turner et al. LANCET NEUROLOGY
- The changing scene of amyotrophic lateral sclerosis
- (2013) Wim Robberecht et al. NATURE REVIEWS NEUROSCIENCE
- The FIG4 gene does not play a major role in causing ALS in Italian patients
- (2013) Simonetta Verdiani et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Evidence for an oligogenic basis of amyotrophic lateral sclerosis
- (2012) Marka van Blitterswijk et al. HUMAN MOLECULAR GENETICS
- ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics
- (2012) Olubunmi Abel et al. HUMAN MUTATION
- Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4
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- Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology
- (2011) M. H. B. Huisman et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Onset and spreading patterns of upper and lower motor neuron symptoms in amyotrophic lateral sclerosis
- (2011) Sonja Körner et al. MUSCLE & NERVE
- Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J
- (2011) Guy M. Lenk et al. PLoS Genetics
- Crystal structure of the yeast Sac1: implications for its phosphoinositide phosphatase function
- (2010) Andrew Manford et al. EMBO JOURNAL
- Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis
- (2010) S. Byrne et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS
- (2010) Ching-Paio Tsai et al. NEUROBIOLOGY OF AGING
- Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS
- (2009) Clement Y. Chow et al. AMERICAN JOURNAL OF HUMAN GENETICS
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