Enhanced motor cortex output and disinhibition in asymptomatic female mice with C9orf72 genetic expansion

p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)

(2021) Maya Maor-Nof et al.   CELL

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

(2021) Federica Perrone et al.   Genome Medicine

Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion

(2021) Agnes L. Nishimura et al.   Frontiers in Cellular Neuroscience

Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafish

(2021) Zoé Butti et al.   Communications Biology

XCM: An Explainable Convolutional Neural Network for Multivariate Time Series Classification

(2021) Kevin Fauvel et al.   Mathematics

Immunohistochemical distribution of 10 GABAA receptor subunits in the forebrain of the rhesus monkey Macaca mulatta

(2020) Günther Sperk et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

(2020) Qiang Zhu et al.   NATURE NEUROSCIENCE

Metformin inhibits RAN translation through PKR pathway and mitigates disease inC9orf72ALS/FTD mice

(2020) Tao Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Distinct synaptic vesicle recycling in inhibitory nerve terminals is coordinated by SV2A

(2020) Jae Ryul Bae et al.   PROGRESS IN NEUROBIOLOGY

InceptionTime: Finding AlexNet for time series classification

(2020) Hassan Ismail Fawaz et al.   DATA MINING AND KNOWLEDGE DISCOVERY

Survival and Motor Phenotypes in FVB C9-500 ALS/FTD BAC Transgenic Mice Reproduced by Multiple Labs

(2020) Lien Nguyen et al.   NEURON

Absence of Survival and Motor Deficits in 500 Repeat C9ORF72 BAC Mice

(2020) Daniel A. Mordes et al.   NEURON

C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy

(2020) Casey N. Cook et al.   Science Translational Medicine

Alterations in Intrinsic and Synaptic Properties of Hippocampal CA1 VIP Interneurons During Aging

(2020) Ruggiero Francavilla et al.   Frontiers in Cellular Neuroscience

Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice

(2020) Amrutha Pattamatta et al.   HUMAN MOLECULAR GENETICS

Modeling ALS/FTD in mice: Updates on the C9orf72 BAC transgenic mice

(2020) Alexandra Le Bras   LAB ANIMAL

Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity

(2019) Yong-Jie Zhang et al.   SCIENCE

Deep learning for time series classification: a review

(2019) Hassan Ismail Fawaz et al.   DATA MINING AND KNOWLEDGE DISCOVERY

catch22: CAnonical Time-series CHaracteristics

(2019) Carl H. Lubba et al.   DATA MINING AND KNOWLEDGE DISCOVERY

Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels

(2019) Shangxi Xiao et al.   Acta Neuropathologica Communications

Synaptic Mechanisms Underlying the Network State-Dependent Recruitment of VIP-Expressing Interneurons in the CA1 Hippocampus

(2019) Xiao Luo et al.   CEREBRAL CORTEX

Antibody Therapy Targeting RAN Proteins Rescues C9 ALS/FTD Phenotypes in C9orf72 Mouse Model

(2019) Lien Nguyen et al.   NEURON

Synaptic dysfunction and altered excitability in C9ORF72 ALS/FTD

(2018) Alexander Starr et al.   BRAIN RESEARCH

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

(2018) Yingxiao Shi et al.   NATURE MEDICINE

Time Series FeatuRe Extraction on basis of Scalable Hypothesis tests (tsfresh – A Python package)

(2018) Maximilian Christ et al.   NEUROCOMPUTING

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

Input-specific synaptic location and function of the alpha5 GABAA receptor subunit in the mouse CA1 hippocampal neurons

(2018) Elise Magnin et al.   JOURNAL OF NEUROSCIENCE

Genetic screening in sporadic ALS and FTD

(2017) Martin R Turner et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Sex differences in the prevalence of genetic mutations in FTD and ALS

(2017) Ashley F. Curtis et al.   NEUROLOGY

Concise Review: The Cellular Conspiracy of Amyotrophic Lateral Sclerosis

(2017) Andrea Serio et al.   STEM CELLS

Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia

(2017) Ranjan Batra et al.   Frontiers in Cellular Neuroscience

The Genetics of C9orf72 Expansions

(2017) Ilse Gijselinck et al.   Cold Spring Harbor Perspectives in Medicine

Modified forelimb grip strength test detects aging-associated physiological decline in skeletal muscle function in male mice

(2017) Hikari Takeshita et al.   Scientific Reports

There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS

(2016) Aaron D. Gitler et al.   BRAIN RESEARCH

Hyperactive somatostatin interneurons contribute to excitotoxicity in neurodegenerative disorders

(2016) Wen Zhang et al.   NATURE NEUROSCIENCE

C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD

(2016) Yuanjing Liu et al.   NEURON

Comparative study of behavioural tests in the SOD1G93A mouse model of amyotrophic lateral sclerosis

(2015) Sara OLIVÁN et al.   EXPERIMENTAL ANIMALS

Amyotrophic lateral sclerosis affects cortical and subcortical activity underlying motor inhibition and action monitoring

(2015) Bahram Mohammadi et al.   HUMAN BRAIN MAPPING

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

Neurobiology of rodent self-grooming and its value for translational neuroscience

(2015) Allan V. Kalueff et al.   NATURE REVIEWS NEUROSCIENCE

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

(2014) Parvathi Menon et al.   PLoS One

Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: A population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis

(2013) Susan Byrne et al.   ANNALS OF NEUROLOGY

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

(2013) Timothy P. Levine et al.   BIOINFORMATICS

Ultrasensitive fluorescent proteins for imaging neuronal activity

(2013) Tsai-Wen Chen et al.   NATURE

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

(2013) Marc Cruts et al.   TRENDS IN NEUROSCIENCES

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

(2012) Bradley N Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

(2012) Olubunmi Abel et al.   HUMAN MUTATION

Hierarchical Connectivity and Connection-Specific Dynamics in the Corticospinal-Corticostriatal Microcircuit in Mouse Motor Cortex

(2012) T. Kiritani et al.   JOURNAL OF NEUROSCIENCE

Autophagy activators rescue and alleviate pathogenesis of a mouse model with proteinopathies of the TAR DNA-binding protein 43

(2012) I.-F. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural and functional evaluation of cortical motor areas in Amyotrophic Lateral Sclerosis

(2011) Mirco Cosottini et al.   EXPERIMENTAL NEUROLOGY

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

Reduced GABAergic Inhibition Explains Cortical Hyperexcitability in the Wobbler Mouse Model of ALS

(2010) Jose Luis Nieto-Gonzalez et al.   CEREBRAL CORTEX

Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders

(2009) Patricia Lillo et al.   JOURNAL OF CLINICAL NEUROSCIENCE

In Vitro and in Vivo Properties of 3-tert-Butyl-7-(5-methylisoxazol-3-yl)-2-(1-methyl-1H-1,2,4-triazol-5-ylmethoxy)-pyrazolo[1,5-d]-[1,2,4]triazine (MRK-016), a GABAA Receptor  5 Subtype-Selective Inverse Agonist

(2009) J. R. Atack et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Pre-symptomatic detection of chronic motor deficits and genotype prediction in congenic B6.SOD1G93A ALS mouse model

(2009) C.R. Hayworth et al.   NEUROSCIENCE

Preclinical and clinical pharmacology of the GABAA receptor α5 subtype-selective inverse agonist α5IA

(2009) John R. Atack   PHARMACOLOGY & THERAPEUTICS