Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration

mTOR at the nexus of nutrition, growth, ageing and disease

(2020) Grace Y. Liu et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The VAPB-PTPIP51 endoplasmic reticulum-mitochondria tethering proteins are present in neuronal synapses and regulate synaptic activity

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Integrative analysis identifies lincRNAs up- and downstream of neuroblastoma driver genes

(2019) Dries Rombaut et al.   Scientific Reports

OUP accepted manuscript

(2018)   BIOINFORMATICS

10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly

(2018) Danyllo Oliveira et al.   JOURNAL OF MEDICAL GENETICS

Dlk1-Dio3 locus-derived lncRNAs perpetuate postmitotic motor neuron cell fate and subtype identity

(2018) Ya-Ping Yen et al.   eLife

Pathways of cellular proteostasis in aging and disease

(2017) Courtney L. Klaips et al.   JOURNAL OF CELL BIOLOGY

A novel mutation of VAPB in one Chinese familial amyotrophic lateral sclerosis pedigree and its clinical characteristics

(2017) Yi-min Sun et al.   JOURNAL OF NEUROLOGY

Mitochondria-associated membranes as hubs for neurodegeneration

(2016) Michiel Krols et al.   ACTA NEUROPATHOLOGICA

Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation

(2015) Li Di et al.   JOURNAL OF NEUROLOGY

Memory Retrieval Requires Ongoing Protein Synthesis and NMDA Receptor Activity-Mediated AMPA Receptor Trafficking

(2015) J. Lopez et al.   JOURNAL OF NEUROSCIENCE

Structure and function of ER membrane contact sites with other organelles

(2015) Melissa J. Phillips et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Generation and expansion of highly pure motor neuron progenitors from human pluripotent stem cells

(2015) Zhong-Wei Du et al.   Nature Communications

UpSet: Visualization of Intersecting Sets

(2014) Alexander Lex et al.   IEEE TRANSACTIONS ON VISUALIZATION AND COMPUTER GRAPHICS

Clinical and genetic heterogeneity of amyotrophic lateral sclerosis

(2013) M Sabatelli et al.   CLINICAL GENETICS

Signal integration by mTORC1 coordinates nutrient input with biosynthetic output

(2013) Christian C. Dibble et al.   NATURE CELL BIOLOGY

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Deciphering amyotrophic lateral sclerosis: What phenotype, neuropathology and genetics are telling us about pathogenesis

(2013) John Ravits et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

(2012) Annelies Van Hoecke et al.   NATURE MEDICINE

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1

(2012)   NEUROBIOLOGY OF AGING

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study

(2012) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

Differential expression analysis of multifactor RNA-Seq experiments with respect to biological variation

(2012) Davis J. McCarthy et al.   NUCLEIC ACIDS RESEARCH

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

(2012) Guangchuang Yu et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

An Efficient Nonviral Method to Generate Integration-Free Human-Induced Pluripotent Stem Cells from Cord Blood and Peripheral Blood Cells

(2012) Keisuke Okita et al.   STEM CELLS

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

(2011) Bo Li et al.   BMC BIOINFORMATICS

VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis

(2011) Kurt J. De Vos et al.   HUMAN MOLECULAR GENETICS

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients

(2011) Miguel Mitne-Neto et al.   HUMAN MOLECULAR GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Communication Between the Synapse and the Nucleus in Neuronal Development, Plasticity, and Disease

(2008) Sonia Cohen et al.   Annual Review of Cell and Developmental Biology

Vesicle associated membrane protein B (VAPB) is decreased in ALS spinal cord

(2008) Georgia Anagnostou et al.   NEUROBIOLOGY OF AGING