FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study

Genotype-phenotype correlations of amyotrophic lateral sclerosis

(2016) Hong-Fu Li et al.   Translational Neurodegeneration

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

(2015) Alleene V. Strickland et al.   JOURNAL OF NEUROLOGY

Primary Lateral Sclerosis

(2015) Jeffrey M. Statland et al.   NEUROLOGIC CLINICS

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(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

(2014) Julien Couthouis et al.   PLoS Genetics

The Edinburgh Cognitive and Behavioural Amyotrophic Lateral Sclerosis Screen: A cross-sectional comparison of established screening tools in a German-Swiss population

(2014) Dorothée Lulé et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy

(2014) Christina DiVincenzo et al.   Molecular Genetics & Genomic Medicine

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

(2013) Philippe M. Campeau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Garth Nicholson et al.   BRAIN

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