Pathophysiological and diagnostic implications of cortical dysfunction in ALS

Hyperactive somatostatin interneurons contribute to excitotoxicity in neurodegenerative disorders

(2016) Wen Zhang et al.   NATURE NEUROSCIENCE

Simulating disease propagation across white matter connectome reveals anatomical substrate for neuropathology staging in amyotrophic lateral sclerosis

(2016) Ruben Schmidt et al.   NEUROIMAGE

4-Aminopyridine Induced Activity Rescues Hypoexcitable Motor Neurons from Amyotrophic Lateral Sclerosis Patient-Derived Induced Pluripotent Stem Cells

(2016) Maximilian Naujock et al.   STEM CELLS

Cortical contributions to the flail leg syndrome: Pathophysiological insights

(2016) Parvathi Menon et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Corticospinal Motor Neurons Are Susceptible to Increased ER Stress and Display Profound Degeneration in the Absence of UCHL1 Function

(2015) Javier H. Jara et al.   CEREBRAL CORTEX

Altered Functionality, Morphology, and Vesicular Glutamate Transporter Expression of Cortical Motor Neurons from a Presymptomatic Mouse Model of Amyotrophic Lateral Sclerosis

(2015) L. Saba et al.   CEREBRAL CORTEX

Cortical hyperexcitability precedes lower motor neuron dysfunction in ALS

(2015) Parvathi Menon et al.   CLINICAL NEUROPHYSIOLOGY

What Does Imaging Reveal About the Pathology of Amyotrophic Lateral Sclerosis?

(2015) Martin R. Turner et al.   Current Neurology and Neuroscience Reports

Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia

(2015) N. Geevasinga et al.   EUROPEAN JOURNAL OF NEUROLOGY

Motor Cortex Layer V Pyramidal Neurons Exhibit Dendritic Regression, Spine Loss, and Increased Synaptic Excitation in the Presymptomatic hSOD1G93A Mouse Model of Amyotrophic Lateral Sclerosis

(2015) M. J. Fogarty et al.   JOURNAL OF NEUROSCIENCE

Progress towards a neuroimaging biomarker for amyotrophic lateral sclerosis

(2015) Massimo Filippi et al.   LANCET NEUROLOGY

Sensitivity and specificity of threshold tracking transcranial magnetic stimulation for diagnosis of amyotrophic lateral sclerosis: a prospective study

(2015) Parvathi Menon et al.   LANCET NEUROLOGY

Brain morphologic changes in asymptomaticC9orf72repeat expansion carriers

(2015) Renée Walhout et al.   NEUROLOGY

Human endogenous retrovirus-K contributes to motor neuron disease

(2015) Wenxue Li et al.   Science Translational Medicine

Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability

(2015) Anna-Claire Devlin et al.   Nature Communications

Potential structural and functional biomarkers of upper motor neuron dysfunction in ALS

(2015) Stuart M. Grieve et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Cortical Function in Asymptomatic Carriers and Patients WithC9orf72Amyotrophic Lateral Sclerosis

(2015) Nimeshan Geevasinga et al.   JAMA Neurology

Axonal Ion Channel Dysfunction inC9orf72Familial Amyotrophic Lateral Sclerosis

(2015) Nimeshan Geevasinga et al.   JAMA Neurology

Biomarkers and Future Targets for Development in Amyotrophic Lateral Sclerosis

(2014) Parvathi Menon et al.   CURRENT MEDICINAL CHEMISTRY

Diagnostic utility of cortical excitability studies in amyotrophic lateral sclerosis

(2014) N. Geevasinga et al.   EUROPEAN JOURNAL OF NEUROLOGY

Cortical thickness in ALS: towards a marker for upper motor neuron involvement

(2014) R. Walhout et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Amyotrophic lateral sclerosis: a long preclinical period?

(2014) A. Eisen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

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

Cortical Dysfunction Underlies the Development of the Split-Hand in Amyotrophic Lateral Sclerosis

(2014) Parvathi Menon et al.   PLoS One

Advances in treating amyotrophic lateral sclerosis: insights from pathophysiological studies

(2014) Steve Vucic et al.   TRENDS IN NEUROSCIENCES

Intrinsic Membrane Hyperexcitability of Amyotrophic Lateral Sclerosis Patient-Derived Motor Neurons

(2014) Brian J. Wainger et al.   Cell Reports

Diagnostic timelines and delays in diagnosing amyotrophic lateral sclerosis (ALS)

(2014) Sabrina Paganoni et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Cortical hyperexcitability and the split-hand plus phenomenon: Pathophysiological insights in ALS

(2014) Jong Seok Bae et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Study of motor asymmetry in ALS indicates an effect of limb dominance on onset and spread of weakness, and an important role for upper motor neurons

(2014) Matthew S. Devine et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Early intrinsic hyperexcitability does not contribute to motoneuron degeneration in amyotrophic lateral sclerosis

(2014) Félix Leroy et al.   eLife

Riluzole exerts central and peripheral modulating effects in amyotrophic lateral sclerosis

(2013) Steve Vucic et al.   BRAIN

ALS pathophysiology: Insights from the split-hand phenomenon

(2013) Parvathi Menon et al.   CLINICAL NEUROPHYSIOLOGY

Structural brain network imaging shows expanding disconnection of the motor system in amyotrophic lateral sclerosis

(2013) Esther Verstraete et al.   HUMAN BRAIN MAPPING

Pathophysiological insights into ALS with C9ORF72 expansions

(2013) K. L. Williams et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Controversies and priorities in amyotrophic lateral sclerosis

(2013) Martin R Turner et al.   LANCET NEUROLOGY

Cortical excitability differences in hand muscles follow a split-hand pattern in healthy controls

(2013) Parvathi Menon et al.   MUSCLE & NERVE

Neuroprotection through Excitability and mTOR Required in ALS Motoneurons to Delay Disease and Extend Survival

(2013) Smita Saxena et al.   NEURON

Awaji Criteria for the Diagnosis of Amyotrophic Lateral Sclerosis

(2012) João Costa et al.   ARCHIVES OF NEUROLOGY

Fractional Anisotropy in the Posterior Limb of the Internal Capsule and Prognosis in Amyotrophic Lateral Sclerosis

(2012) Ricarda A. L. Menke et al.   ARCHIVES OF NEUROLOGY

Handedness and the excitability of cortical inhibitory circuits

(2012) Campbell S. Reid et al.   BEHAVIOURAL BRAIN RESEARCH

Role of the N-methyl-d-aspartate receptors complex in amyotrophic lateral sclerosis

(2012) Alida Spalloni et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Neuroimaging in amyotrophic lateral sclerosis

(2012) Martin R Turner et al.   Biomarkers in Medicine

Transcranial Direct Current Stimulation Effects on the Excitability of Corticospinal Axons of the Human Cerebral Cortex

(2012) Vincenzo Di Lazzaro et al.   Brain Stimulation

Why are upper motor neuron signs difficult to elicit in amyotrophic lateral sclerosis?: Figure 1

(2012) Michael Swash   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Transcranial magnetic stimulation and amyotrophic lateral sclerosis: pathophysiological insights

(2012) Steve Vucic et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

AAV2 mediated retrograde transduction of corticospinal motor neurons reveals initial and selective apical dendrite degeneration in ALS

(2012) Javier H. Jara et al.   NEUROBIOLOGY OF DISEASE

Split-hand plus sign in ALS: Differential involvement of the flexor pollicis longus and intrinsic hand muscles

(2012) Parvathi Menon et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

Cognitive Functions and White Matter Tract Damage in Amyotrophic Lateral Sclerosis: A Diffusion Tensor Tractography Study

(2011) L. Sarro et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Upper and extra-motoneuron involvement in early motoneuron disease: a diffusion tensor imaging study

(2011) M. M. van der Graaff et al.   BRAIN

Motor Neuron dysfunction in frontotemporal dementia

(2011) James R. Burrell et al.   BRAIN

Cortical excitability distinguishes ALS from mimic disorders

(2011) Steve Vucic et al.   CLINICAL NEUROPHYSIOLOGY

Links between Electrophysiological and Molecular Pathology of Amyotrophic Lateral Sclerosis

(2011) K. A. Quinlan   INTEGRATIVE AND COMPARATIVE BIOLOGY

Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis

(2011) Esther Verstraete et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Corticospinal Motor Neurons and Related Subcerebral Projection Neurons Undergo Early and Specific Neurodegeneration in hSOD1G93A Transgenic ALS Mice

(2011) P. H. Ozdinler et al.   JOURNAL OF NEUROSCIENCE

Amyotrophic lateral sclerosis

(2011) Matthew C Kiernan et al.   LANCET

Fasciculation potentials in amyotrophic lateral sclerosis and the diagnostic yield of the Awaji algorithm

(2011) Mana Higashihara et al.   MUSCLE & NERVE

Astrocytes from familial and sporadic ALS patients are toxic to motor neurons

(2011) Amanda M Haidet-Phillips et al.   NATURE BIOTECHNOLOGY

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

Impaired Structural Motor Connectome in Amyotrophic Lateral Sclerosis

(2011) Esther Verstraete et al.   PLoS One

Concordance between site of onset and limb dominance in amyotrophic lateral sclerosis

(2010) M. R. Turner et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

ALS-linked mutant superoxide dismutase 1 (SOD1) alters mitochondrial protein composition and decreases protein import

(2010) Q. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deficits in axonal transport precede ALS symptoms in vivo

(2010) L. G. Bilsland et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis

(2009) I. P. Blair et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Cortical excitability in hereditary motor neuronopathy with pyramidal signs: comparison with ALS

(2009) S Vucic et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Upregulation of persistent sodium conductances in familial ALS

(2009) S. Vucic et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Progressive Changes in Synaptic Inputs to Motoneurons in Adult Sacral Spinal Cord of a Mouse Model of Amyotrophic Lateral Sclerosis

(2009) M. Jiang et al.   JOURNAL OF NEUROSCIENCE

Miro1 Is a Calcium Sensor for Glutamate Receptor-Dependent Localization of Mitochondria at Synapses

(2009) Andrew F. MacAskill et al.   NEURON

Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis

(2008) Steve Vucic et al.   BRAIN

Cortical excitability testing distinguishes Kennedy’s disease from amyotrophic lateral sclerosis

(2008) Steve Vucic et al.   CLINICAL NEUROPHYSIOLOGY

Electrodiagnostic criteria for diagnosis of ALS

(2008) Mamede de Carvalho et al.   CLINICAL NEUROPHYSIOLOGY

Increased persistent sodium current determines cortical hyperexcitability in a genetic model of amyotrophic lateral sclerosis

(2008) Massimo Pieri et al.   EXPERIMENTAL NEUROLOGY

Morphological differences between wild-type and transgenic superoxide dismutase 1 lumbar motoneurons in postnatal mice

(2008) Julien Amendola et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Biomarkers in amyotrophic lateral sclerosis

(2008) Martin R Turner et al.   LANCET NEUROLOGY

Dissociated small hand muscle atrophy in amyotrophic lateral sclerosis: Frequency, extent, and specificity

(2008) Satoshi Kuwabara et al.   MUSCLE & NERVE

The clinical diagnostic utility of transcranial magnetic stimulation: Report of an IFCN committee

(2007) Robert Chen et al.   CLINICAL NEUROPHYSIOLOGY