Amyotrophic lateral sclerosis: the complex path to precision medicine

Energy metabolism in ALS: an underappreciated opportunity?

(2018) Tijs Vandoorne et al.   ACTA NEUROPATHOLOGICA

Cerebrospinal fluid macrophage biomarkers in amyotrophic lateral sclerosis

(2018) Alexander G. Thompson et al.   ANNALS OF NEUROLOGY

The cognitive profile of behavioural variant FTD and its similarities with ALS: a systematic review and meta-analysis

(2018) Emma Beeldman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Towards a TDP-43-Based Biomarker for ALS and FTLD

(2018) Emily Feneberg et al.   MOLECULAR NEUROBIOLOGY

Advances in therapy for spinal muscular atrophy: promises and challenges

(2018) Ewout J. N. Groen et al.   Nature Reviews Neurology

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Autophagy as a common pathway in amyotrophic lateral sclerosis

(2018) Dao K.H. Nguyen et al.   NEUROSCIENCE LETTERS

Meta-analytic evaluation of the association between head injury and risk of amyotrophic lateral sclerosis

(2017) Yukari Watanabe et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

Cortical influences drive amyotrophic lateral sclerosis

(2017) Andrew Eisen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial

(2017) Koji Abe et al.   LANCET NEUROLOGY

Urinary p75 ECD

(2017) Stephanie R. Shepheard et al.   NEUROLOGY

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

(2017) Ian R. Mackenzie et al.   NEURON

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72 -associated amyotrophic lateral sclerosis

(2017) Tania F. Gendron et al.   Science Translational Medicine

A risk stratifying tool to facilitate safe late-stage percutaneous endoscopic gastrostomy in ALS

(2017) Alexander G. Thompson et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Prion-like domains as epigenetic regulators, scaffolds for subcellular organization, and drivers of neurodegenerative disease

(2016) Zachary M. March et al.   BRAIN RESEARCH

C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles

(2016) Kyung-Ha Lee et al.   CELL

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

(2016) Chantal Sellier et al.   EMBO JOURNAL

Altered cortical beta-band oscillations reflect motor system degeneration in amyotrophic lateral sclerosis

(2016) Malcolm Proudfoot et al.   HUMAN BRAIN MAPPING

Tau Rather than TDP-43 Proteins are Potential Cerebrospinal Fluid Biomarkers for Frontotemporal Lobar Degeneration Subtypes: A Pilot Study

(2016) H. Bea Kuiperij et al.   JOURNAL OF ALZHEIMERS DISEASE

A large-scale multicentre cerebral diffusion tensor imaging study in amyotrophic lateral sclerosis

(2016) Hans-Peter Müller et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Increased functional connectivity common to symptomatic amyotrophic lateral sclerosis and those at genetic risk

(2016) Ricarda A L Menke et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(2016) Wouter van Rheenen et al.   NATURE GENETICS

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

(2016) Ammar Al-Chalabi et al.   Nature Reviews Neurology

Trial of early noninvasive ventilation for ALS

(2016) Teresa L. Jacobs et al.   NEUROLOGY

Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia

(2016) Jonathan D. Rohrer et al.   NEUROLOGY

Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity

(2016) Chunxing Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis

(2015) Patrick Weydt et al.   ANNALS OF NEUROLOGY

Phase Separation by Low Complexity Domains Promotes Stress Granule Assembly and Drives Pathological Fibrillization

(2015) Amandine Molliex et al.   CELL

Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients

(2015) Petra Steinacker et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Gastrostomy in patients with amyotrophic lateral sclerosis (ProGas): a prospective cohort study

(2015)   LANCET NEUROLOGY

Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial

(2015)   LANCET NEUROLOGY

Brain morphologic changes in asymptomaticC9orf72repeat expansion carriers

(2015) Renée Walhout et al.   NEUROLOGY

Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis

(2015) C.-H. Lu et al.   NEUROLOGY

Review: An update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations

(2015) Tammaryn Lashley et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

A preliminary randomized trial of the mechanical insufflator-exsufflator versus breath-stacking technique in patients with amyotrophic lateral sclerosis

(2015) Muhammad K. Rafiq et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

The Awaji criteria for diagnosis of ALS

(2015) Mamede de Carvalho et al.   MUSCLE & NERVE

Widespread grey matter pathology dominates the longitudinal cerebral MRI and clinical landscape of amyotrophic lateral sclerosis

(2014) Ricarda A. L. Menke et al.   BRAIN

Hypercaloric enteral nutrition in patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled phase 2 trial

(2014) Anne-Marie Wills et al.   LANCET

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

(2014) Ammar Al-Chalabi et al.   LANCET NEUROLOGY

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

Confirmatory double-blind, parallel-group, placebo-controlled study of efficacy and safety of edaravone (MCI-186) in amyotrophic lateral sclerosis patients

(2014) Koji Abe et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

(2013) Timothy M Miller et al.   LANCET NEUROLOGY

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

TDP-43 plasma levels are higher in amyotrophic lateral sclerosis

(2012) Esther Verstraete et al.   Amyotrophic Lateral Sclerosis

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

(2012) Clotilde Lagier-Tourenne et al.   NATURE NEUROSCIENCE

Cardiovascular fitness as a risk factor for amyotrophic lateral sclerosis: indirect evidence from record linkage study: Table 1

(2011) Martin R Turner et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

The Heritability of Amyotrophic Lateral Sclerosis in a Clinically Ascertained United States Research Registry

(2011) Thomas S. Wingo et al.   PLoS One

Elevated CSF TDP-43 levels in amyotrophic lateral sclerosis: Specificity, sensitivity, and a possible prognostic value

(2010) Yu-Ichi Noto et al.   Amyotrophic Lateral Sclerosis

Patients with elevated triglyceride and cholesterol serum levels have a prolonged survival in amyotrophic lateral sclerosis

(2010) J. Dorst et al.   JOURNAL OF NEUROLOGY

Alteration of nutritional status at diagnosis is a prognostic factor for survival of amyotrophic lateral sclerosis patients

(2010) B. Marin et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations

(2010) D. Baumer et al.   NEUROLOGY

Corpus callosum involvement is a consistent feature of amyotrophic lateral sclerosis

(2010) N. Filippini et al.   NEUROLOGY

Reduced frequency of ALS in an ethnically mixed population: A population-based mortality study

(2009) T. Zaldivar et al.   NEUROLOGY

Descending Pathways in Motor Control

(2008) Roger N. Lemon   Annual Review of Neuroscience

TDP-43 expression in mouse models of amyotrophic lateral sclerosis and spinal muscular atrophy

(2008) Bradley J Turner et al.   BMC NEUROSCIENCE

Dyslipidemia is a protective factor in amyotrophic lateral sclerosis

(2008) L. Dupuis et al.   NEUROLOGY

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE