Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype

Structural Variants May Be a Source of Missing Heritability in sALS

(2020) Frances Theunissen et al.   Frontiers in Neuroscience

Functional fine-mapping of noncoding risk variants in amyotrophic lateral sclerosis utilizing convolutional neural network

(2020) Ali Yousefian-Jazi et al.   Scientific Reports

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

(2020) Mercedes Prudencio et al.   JOURNAL OF CLINICAL INVESTIGATION

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

(2019) Joseph R. Klim et al.   NATURE NEUROSCIENCE

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

(2019) Ze’ev Melamed et al.   NATURE NEUROSCIENCE

Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALS

(2019) Casey Cook et al.   NEURON

Altered Gut Microbiome in Parkinson’s Disease and the Influence of Lipopolysaccharide in a Human α-Synuclein Over-Expressing Mouse Model

(2019) Anastazja M. Gorecki et al.   Frontiers in Neuroscience

The landscape of multiscale transcriptomic networks and key regulators in Parkinson’s disease

(2019) Qian Wang et al.   Nature Communications

In pursuit of the normal progressor: the holy grail for ALS clinical trial design?

(2019) Ruben P. A. van Eijk et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Transcriptome–pathology correlation identifies interplay between TDP-43 and the expression of its kinase CK1E in sporadic ALS

(2018) Florian Krach et al.   ACTA NEUROPATHOLOGICA

ALS Genes in the Genomic Era and their Implications for FTD

(2018) Hung Phuoc Nguyen et al.   TRENDS IN GENETICS

The impact of structural variation on human gene expression

(2017) Colby Chiang et al.   NATURE GENETICS

ATXN2 trinucleotide repeat length correlates with risk of ALS

(2017) William Sproviero et al.   NEUROBIOLOGY OF AGING

Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing

(2016) Allen D. Roses et al.   Expert Opinion on Drug Metabolism & Toxicology

The SSV Evaluation System: A Tool to Prioritize Short Structural Variants for Studies of Possible Regulatory and Causal Variants

(2016) Robert Saul et al.   HUMAN MUTATION

Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders

(2016) Maria Sara Cipolat Mis et al.   MOLECULAR NEUROBIOLOGY

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa

(2016) Anna M. Rose et al.   Scientific Reports

Association of a Locus in theCAMTA1Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

(2016) Isabella Fogh et al.   JAMA Neurology

Building the Neuronal Microtubule Cytoskeleton

(2015) Lukas C. Kapitein et al.   NEURON

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

(2015) J. P. Ling et al.   SCIENCE

Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders

(2014) John Douglas Cleary et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

CX3CR1 Is a Modifying Gene of Survival and Progression in Amyotrophic Lateral Sclerosis

(2014) Alan Lopez-Lopez et al.   PLoS One

Dynamic regulation of SCG10 in regenerating axons after injury

(2013) Jung Eun Shin et al.   EXPERIMENTAL NEUROLOGY

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

(2012)   NEUROBIOLOGY OF AGING

Concise Review: Patient-Derived Olfactory Stem Cells: New Models for Brain Diseases

(2012) Alan Mackay-Sim   STEM CELLS

Stathmin is Required for Stability of the Drosophila Neuromuscular Junction

(2011) E. R. Graf et al.   JOURNAL OF NEUROSCIENCE

Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis

(2011) Hélène Blasco et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

(2011) Frank P. Diekstra et al.   NEUROBIOLOGY OF AGING

Disease-specific, neurosphere-derived cells as models for brain disorders

(2010) N. Matigian et al.   Disease Models & Mechanisms

Sporadic ALS has compartment-specific aberrant exon splicing and altered cell–matrix adhesion biology

(2009) Stuart J. Rabin et al.   HUMAN MOLECULAR GENETICS

A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease

(2009) A D Roses et al.   PHARMACOGENOMICS JOURNAL

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

(2009) J. E. Landers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA