From animal models to human disease: a genetic approach for personalized medicine in ALS

Advances in the Development of Disease-Modifying Treatments for Amyotrophic Lateral Sclerosis

(2016) Diane Moujalled et al.   CNS DRUGS

Physiological functions and pathobiology of TDP-43 and FUS/TLS proteins

(2016) Antonia Ratti et al.   JOURNAL OF NEUROCHEMISTRY

Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature

(2016) Carlo Wilke et al.   JOURNAL OF NEUROLOGY

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

(2016) Yuanjing Liu et al.   NEURON

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review

(2016) L. J. Schipper et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Canine degenerative myelopathy: a model of human amyotrophic lateral sclerosis

(2016) Raffaele Nardone et al.   ZOOLOGY

A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration

(2015) Masataka Nakamura et al.   ACTA NEUROPATHOLOGICA

Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration

(2015) EunRan Suh et al.   ACTA NEUROPATHOLOGICA

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

(2015) Max Koppers et al.   ANNALS OF NEUROLOGY

Cysteine residues in Cu,Zn-superoxide dismutase are essential to toxicity in Caenorhabditis elegans model of amyotrophic lateral sclerosis

(2015) Mariko Ogawa et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Sporadic and hereditary amyotrophic lateral sclerosis (ALS)

(2015) Senda Ajroud-Driss et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Biomarker development for C9orf72 repeat expansion in ALS

(2015) Emily F. Mendez et al.   BRAIN RESEARCH

A fruitful endeavor: Modeling ALS in the fruit fly

(2015) Ian Casci et al.   BRAIN RESEARCH

Increased anxiety-like behavior and selective learning impairments are concomitant to loss of hippocampal interneurons in the presymptomatic SOD1(G93A) ALS mouse model

(2015) Eros Quarta et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Rapamycin alleviates pathogenesis of a newDrosophilamodel of ALS-TDP

(2015) Ching-Wei Cheng et al.   JOURNAL OF NEUROGENETICS

PET imaging studies show enhanced expression of mGluR5 and inflammatory response during progressive degeneration in ALS mouse model expressing SOD1-G93A gene

(2015) Anna-Liisa Brownell et al.   Journal of Neuroinflammation

Viral expression of ALS-linked ubiquilin-2 mutants causes inclusion pathology and behavioral deficits in mice

(2015) Carolina Ceballos-Diaz et al.   Molecular Neurodegeneration

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

FTD and ALS—translating mouse studies into clinical trials

(2015) Lars M. Ittner et al.   Nature Reviews Neurology

Histological Bulbar Manifestations in the ALS Rat

(2015) Osama N. Kashlan et al.   Neurodegenerative Diseases

Neuropathology of Amyotrophic Lateral Sclerosis and Its Variants

(2015) Shahram Saberi et al.   NEUROLOGIC CLINICS

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

(2015) Owen M. Peters et al.   NEURON

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

(2015) Jacqueline G. O’Rourke et al.   NEURON

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS

(2015) Helene Tran et al.   NEURON

An autopsy case of familial amyotrophic lateral sclerosis with aTARDBPQ343R mutation

(2015) Koichi Okamoto et al.   NEUROPATHOLOGY

Oligogenic inheritance of optineurin (OPTN) andC9ORF72mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions ofC9ORF72-ALS

(2015) Joanna J. Bury et al.   NEUROPATHOLOGY

Amyotrophic lateral sclerosis: Current perspectives from basic research to the clinic

(2015) Renzo Mancuso et al.   PROGRESS IN NEUROBIOLOGY

C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

(2015) J. Chew et al.   SCIENCE

Electrophysiological and spinal imaging evidences for sensory dysfunction in amyotrophic lateral sclerosis

(2015) C. Iglesias et al.   BMJ Open

Ubiquilin-2 drives NF-κB activity and cytosolic TDP-43 aggregation in neuronal cells

(2015) Vincent Picher-Martel et al.   Molecular Brain

Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations

(2015) Julie S. Snowden et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model

(2015) M. Nizzardo et al.   Science Advances

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis

(2015) Satoshi Yamashita et al.   Translational Neurodegeneration

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

(2015) Andrew King et al.   Acta Neuropathologica Communications

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS

(2015) Jacqueline C Mitchell et al.   Acta Neuropathologica Communications

FUS/TLS deficiency causes behavioral and pathological abnormalities distinct from amyotrophic lateral sclerosis

(2015) Yoshihiro Kino et al.   Acta Neuropathologica Communications

Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients

(2015) Bastien Paré et al.   Acta Neuropathologica Communications

Comparative Magnetic Resonance Imaging and Histopathological Correlates in Two SOD1 Transgenic Mouse Models of Amyotrophic Lateral Sclerosis

(2015) Ilaria Caron et al.   PLoS One

Pathogenic Ubqln2 gains toxic properties to induce neuron death

(2014) Qinxue Wu et al.   ACTA NEUROPATHOLOGICA

Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers

(2014) Axel Freischmidt et al.   BRAIN

Species-dependent neuropathology in transgenic SOD1 pigs

(2014) Huaqiang Yang et al.   CELL RESEARCH

The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients

(2014) Angelina Cistaro et al.   EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING

Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS

(2014) Janis Bennion Callister et al.   EXPERIMENTAL NEUROLOGY

Preservation of forelimb function by UPF1 gene therapy in a rat model of TDP-43-induced motor paralysis

(2014) K L Jackson et al.   GENE THERAPY

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity

(2014) Peter I. Joyce et al.   HUMAN MOLECULAR GENETICS

Mitochondrial Dysfunction and Decrease in Body Weight of a Transgenic Knock-in Mouse Model for TDP-43

(2014) Carola Stribl et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

T2-Weighted MRI Detects Presymptomatic Pathology in the SOD1 Mouse Model of ALS

(2014) Matthew C Evans et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Blood Volatile Organic Compounds as Potential Biomarkers for Amyotrophic Lateral Sclerosis: an Animal Study in the SOD1 G93A Mouse

(2014) Hongquan Jiang et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations

(2014) Gianluca Floris et al.   JOURNAL OF NEUROLOGY

Delayed Disease Onset and Extended Survival in the SOD1G93A Rat Model of Amyotrophic Lateral Sclerosis after Suppression of Mutant SOD1 in the Motor Cortex

(2014) G. M. Thomsen et al.   JOURNAL OF NEUROSCIENCE

Adeno-associated Virus–mediated Delivery of a Recombinant Single-chain Antibody Against Misfolded Superoxide Dismutase for Treatment of Amyotrophic Lateral Sclerosis

(2014) Priyanka Patel et al.   MOLECULAR THERAPY

The phenotypic variability of amyotrophic lateral sclerosis

(2014) Bart Swinnen et al.   Nature Reviews Neurology

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

(2014) Zhaoming Su et al.   NEURON

MicroRNA-206: A Potential Circulating Biomarker Candidate for Amyotrophic Lateral Sclerosis

(2014) Janne M. Toivonen et al.   PLoS One

Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells

(2014) Agnes L. Nishimura et al.   PLoS One

Loss of Optineurin In Vivo Results in Elevated Cell Death and Alters Axonal Trafficking Dynamics

(2014) Jeremiah D. Paulus et al.   PLoS One

Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutantUBQLN2

(2014) George H. Gorrie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Activity-dependent FUS dysregulation disrupts synaptic homeostasis

(2014) C. F. Sephton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Zebrafish models of human motor neuron diseases: Advantages and limitations

(2014) Patrick J. Babin et al.   PROGRESS IN NEUROBIOLOGY

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

(2014) S. Mizielinska et al.   SCIENCE

Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALS

(2014) Shingo Kariya et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

RETRACTED ARTICLE: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

(2014) Renate K Hukema et al.   Acta Neuropathologica Communications

Establishing a novel C. elegans model to investigate the role of autophagy in amyotrophic lateral sclerosis

(2013) Jia Li et al.   ACTA PHARMACOLOGICA SINICA

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

(2013) Zhengrui Xi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis

(2013) Sorana Ciura et al.   ANNALS OF NEUROLOGY

What is personalized medicine: sharpening a vague term based on a systematic literature review

(2013) Sebastian Schleidgen et al.   BMC Medical Ethics

C57BL/6J congenic Prp-TDP43A315T mice develop progressive neurodegeneration in the myenteric plexus of the colon without exhibiting key features of ALS

(2013) Theo Hatzipetros et al.   BRAIN RESEARCH

Expression of ALS-linked TDP-43 mutant in astrocytes causes non-cell-autonomous motor neuron death in rats

(2013) Jianbin Tong et al.   EMBO JOURNAL

Loss and gain of FUS function impair neuromuscular synaptic transmission in a genetic model of ALS

(2013) Gary A.B. Armstrong et al.   HUMAN MOLECULAR GENETICS

TARDBPandFUSMutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

(2013) Serena Lattante et al.   HUMAN MUTATION

Premature death of TDP-43 (A315T) transgenic mice due to gastrointestinal complications prior to development of full neurological symptoms of amyotrophic lateral sclerosis

(2013) Mohammad A. Esmaeili et al.   INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY

Lifetime physical activity and the risk of amyotrophic lateral sclerosis

(2013) M. H. B. Huisman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Characterization of intercostal muscle pathology in canine degenerative myelopathy: A disease model for amyotrophic lateral sclerosis

(2013) Brandie R. Morgan et al.   JOURNAL OF NEUROSCIENCE RESEARCH

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

Overexpression of ALS-Associated p.M337V Human TDP-43 in Mice Worsens Disease Features Compared to Wild-type Human TDP-43 Mice

(2013) Jonathan Janssens et al.   MOLECULAR NEUROBIOLOGY

Therapeutic AAV9-mediated Suppression of Mutant SOD1 Slows Disease Progression and Extends Survival in Models of Inherited ALS

(2013) Kevin D Foust et al.   MOLECULAR THERAPY

The epidemiology of ALS: a conspiracy of genes, environment and time

(2013) Ammar Al-Chalabi et al.   Nature Reviews Neurology

Expression of zinc-deficient human superoxide dismutase in Drosophila neurons produces a locomotor defect linked to mitochondrial dysfunction

(2013) Sepehr Bahadorani et al.   NEUROBIOLOGY OF AGING

Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study

(2013) Sarah Debray et al.   NEUROBIOLOGY OF AGING

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease

(2013) Matthis Synofzik et al.   NEUROBIOLOGY OF AGING

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

(2013) Christopher J. Donnelly et al.   NEURON

Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation

(2013) Masaki Kamada et al.   NEUROPATHOLOGY

Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans

(2013) Martine Therrien et al.   PLoS One

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

(2013) Z. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

(2013) C. Lagier-Tourenne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

(2013) E. S. Arnold et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuronal Loss and Decreased GLT-1 Expression Observed in the Spinal Cord of Pembroke Welsh Corgi Dogs With Canine Degenerative Myelopathy

(2013) M. Ogawa et al.   VETERINARY PATHOLOGY

Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2

(2013) Jaime Vengoechea et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

(2012) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

The genetics and neuropathology of amyotrophic lateral sclerosis

(2012) Ammar Al-Chalabi et al.   ACTA NEUROPATHOLOGICA

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

(2012) Jacqueline C. Mitchell et al.   ACTA NEUROPATHOLOGICA

TDP-43 plasma levels are higher in amyotrophic lateral sclerosis

(2012) Esther Verstraete et al.   Amyotrophic Lateral Sclerosis

Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation

(2012) Jonathan S. Katz et al.   Amyotrophic Lateral Sclerosis

Awaji Criteria for the Diagnosis of Amyotrophic Lateral Sclerosis

(2012) João Costa et al.   ARCHIVES OF NEUROLOGY

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

(2012) A. Chio et al.   BRAIN

FUS stimulates microRNA biogenesis by facilitating co-transcriptional Drosha recruitment

(2012) Mariangela Morlando et al.   EMBO JOURNAL

Truncating mutations inFUS/TLSgive rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany

(2012) S. Waibel et al.   EUROPEAN JOURNAL OF NEUROLOGY

Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis

(2012) K. S. Graffmo et al.   HUMAN MOLECULAR GENETICS

TDP-43 Potentiates Alpha-synuclein Toxicity to Dopaminergic Neurons in Transgenic Mice

(2012) Tian Tian et al.   International Journal of Biological Sciences

Phenotype difference between ALS patients with expanded repeats inC9ORF72and patients with mutations in other ALS-related genes

(2012) Stéphanie Millecamps et al.   JOURNAL OF MEDICAL GENETICS

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

(2012) Susan Byrne et al.   LANCET NEUROLOGY

Neuromuscular effects of G93A-SOD1 expression in zebrafish

(2012) Stacey A Sakowski et al.   Molecular Neurodegeneration

Large C9orf72 repeat expansions are not a common cause of Parkinson's disease

(2012) Elisa Majounie et al.   NEUROBIOLOGY OF AGING

UBQLN2 mutations are rare in French and French–Canadian amyotrophic lateral sclerosis

(2012) Hussein Daoud et al.   NEUROBIOLOGY OF AGING

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

(2012) P. Corcia et al.   NEUROLOGY

Mutant TDP-43 and FUS Cause Age-Dependent Paralysis and Neurodegeneration in C. elegans

(2012) Alexandra Vaccaro et al.   PLoS One

No GGGGCC-hexanucleotide repeat expansion inC9ORF72in parkinsonism patients in Sweden

(2012) Chizuru Akimoto et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Premorbid body mass index and risk of amyotrophic lateral sclerosis

(2012) Éilis J. O'Reilly et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

(2011) Tibor Hortobágyi et al.   ACTA NEUROPATHOLOGICA

Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation

(2011) Hidefumi Ito et al.   ACTA NEUROPATHOLOGICA

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

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

(2011) Melissa E. Murray et al.   ACTA NEUROPATHOLOGICA

Large Proportion of Amyotrophic Lateral Sclerosis Cases in Sardinia Due to a Single Founder Mutation of the TARDBP Gene

(2011) Adriano Chiò   ARCHIVES OF NEUROLOGY

Sensorimotor and cognitive functions in a SOD1G37R transgenic mouse model of amyotrophic lateral sclerosis

(2011) Mohammed Filali et al.   BEHAVIOURAL BRAIN RESEARCH

Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments

(2011) Vivek Swarup et al.   BRAIN

ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism

(2011) Tetsuro Murakami et al.   HUMAN MOLECULAR GENETICS

A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43

(2011) N. A. Lanson et al.   HUMAN MOLECULAR GENETICS

Arginine methylation by PRMT1 regulates nuclear-cytoplasmic localization and toxicity of FUS/TLS harbouring ALS-linked mutations

(2011) Miranda L. Tradewell et al.   HUMAN MOLECULAR GENETICS

Polyubiquitin Binding to Optineurin Is Required for Optimal Activation of TANK-binding Kinase 1 and Production of Interferon β

(2011) Catherine E. Gleason et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice

(2011) Lionel M. Igaz et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutant TDP-43 in motor neurons promotes the onset and progression of ALS in rats

(2011) Cao Huang et al.   JOURNAL OF CLINICAL INVESTIGATION

Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κB–mediated pathogenic pathways

(2011) Vivek Swarup et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study

(2011) A. Chio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Degenerative Myelopathy in a Bernese Mountain Dog with a Novel SOD1 Missense Mutation

(2011) F.A. Wininger et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Expression of mutant TDP-43 induces neuronal dysfunction in transgenic mice

(2011) Ya-Fei Xu et al.   Molecular Neurodegeneration

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

(2011) Peter M. Andersen et al.   Nature Reviews Neurology

Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis

(2011) Stéphanie Millecamps et al.   NEUROBIOLOGY OF AGING

Accumulation of insoluble forms of FUS protein correlates with toxicity in Drosophila

(2011) Laetitia Miguel et al.   NEUROBIOLOGY OF AGING

Innate and adaptive immunity in amyotrophic lateral sclerosis: Evidence of complement activation

(2011) M. Sta et al.   NEUROBIOLOGY OF DISEASE

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia

(2011) Marialuisa Quadri et al.   NEUROGENETICS

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

Optineurin in neurodegenerative diseases

(2011) Tenshi Osawa et al.   NEUROPATHOLOGY

Improved Survival with Vemurafenib in Melanoma with BRAF V600E Mutation

(2011) Paul B. Chapman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Neuronal Function and Dysfunction of Drosophila dTDP

(2011) Meng-Jau Lin et al.   PLoS One

FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis

(2011) Edor Kabashi et al.   PLoS Genetics

FUS Transgenic Rats Develop the Phenotypes of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

(2011) Cao Huang et al.   PLoS Genetics

Expression of human FUS protein in Drosophila leads to progressive neurodegeneration

(2011) Yanbo Chen et al.   Protein & Cell

A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling

(2010) Terrell Brotherton et al.   Amyotrophic Lateral Sclerosis

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

The sex ratio in amyotrophic lateral sclerosis: A population based study

(2010) Zita R. Manjaly et al.   Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis–Frontotemporal Lobar Dementia in 3 Families With p.Ala382Thr TARDBP Mutations

(2010) Adriano Chiò et al.   ARCHIVES OF NEUROLOGY

A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease

(2010) T. Ramesh et al.   Disease Models & Mechanisms

Effects of gender in amyotrophic lateral sclerosis

(2010) Pamela A. McCombe et al.   Gender Medicine

Neurotoxic effects of TDP-43 overexpression in C. elegans

(2010) Peter E.A. Ash et al.   HUMAN MOLECULAR GENETICS

TDP-43 M337V Mutation in Familial Amyotrophic Lateral Sclerosis in Japan

(2010) Akira Tamaoka et al.   INTERNAL MEDICINE

Ubiquilin Modifies TDP-43 Toxicity in a Drosophila Model of Amyotrophic Lateral Sclerosis (ALS)

(2010) Keith A. Hanson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Elevated expression of TDP-43 in the forebrain of mice is sufficient to cause neurological and pathological phenotypes mimicking FTLD-U

(2010) Kuen-Jer Tsai et al.   JOURNAL OF EXPERIMENTAL MEDICINE

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

(2010) S. Millecamps et al.   JOURNAL OF MEDICAL GENETICS

TDP-43 Proteinopathy and Motor Neuron Disease in Chronic Traumatic Encephalopathy

(2010) Ann C. McKee et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Phosphorylation Promotes Neurotoxicity in a Caenorhabditis elegans Model of TDP-43 Proteinopathy

(2010) N. F. Liachko et al.   JOURNAL OF NEUROSCIENCE

Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice

(2010) Y.-F. Xu et al.   JOURNAL OF NEUROSCIENCE

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Progressive motor weakness in transgenic mice expressing human TDP-43

(2010) Nancy R. Stallings et al.   NEUROBIOLOGY OF DISEASE

Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: A spectrum of TDP-43 proteinopathies

(2010) Felix Geser et al.   NEUROPATHOLOGY

TDP-43 proteinopathy in familial motor neurone disease with TARDBP A315T mutation: a case report

(2010) N. J. Cairns et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

TDP-43-Mediated Neuron Loss In Vivo Requires RNA-Binding Activity

(2010) Aaron Voigt et al.   PLoS One

Progranulin is Neurotrophic In Vivo and Protects against a Mutant TDP-43 Induced Axonopathy

(2010) Angela S. Laird et al.   PLoS One

A Drosophila model for TDP-43 proteinopathy

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

Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice

(2010) X. Shan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

(2010) Hans Wils et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transgenic Rat Model of Neurodegeneration Caused by Mutation in the TDP Gene

(2010) Hongxia Zhou et al.   PLoS Genetics

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

(2009) Edor Kabashi et al.   HUMAN MOLECULAR GENETICS

Wild-type SOD1 overexpression accelerates disease onset of a G85R SOD1 mouse

(2009) L. Wang et al.   HUMAN MOLECULAR GENETICS

High frequency ofTARDBPgene mutations in Italian patients with amyotrophic lateral sclerosis

(2009) Lucia Corrado et al.   HUMAN MUTATION

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

(2009) L. Corrado et al.   JOURNAL OF MEDICAL GENETICS

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

(2009) Janine Kirby et al.   NEUROGENETICS

Smoking may be considered an established risk factor for sporadic ALS

(2009) C. Armon   NEUROLOGY

ALS motor phenotype heterogeneity, focality, and spread: Deconstructing motor neuron degeneration

(2009) J. M. Ravits et al.   NEUROLOGY

Mislocalization of TDP-43 in the G93A mutant SOD1 transgenic mouse model of ALS

(2009) Xiaoyang Shan et al.   NEUROSCIENCE LETTERS

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

(2009) I. Wegorzewska et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-wide association analysis reveals aSOD1mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis

(2009) Tomoyuki Awano et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Hemizygous minipigs produced by random gene insertion and handmade cloning express the Alzheimer’s disease-causing dominant mutation APPsw

(2009) Peter M. Kragh et al.   TRANSGENIC RESEARCH

An ALS-Linked Mutant SOD1 Produces a Locomotor Defect Associated with Aggregation and Synaptic Dysfunction When Expressed in Neurons of Caenorhabditis elegans

(2009) Jiou Wang et al.   PLoS Genetics

Increased TDP-43 protein in cerebrospinal fluid of patients with amyotrophic lateral sclerosis

(2008) Takashi Kasai et al.   ACTA NEUROPATHOLOGICA

SOD1 gene mutations in ALS patients from British Columbia, Canada: Clinical features, neurophysiology and ethical issues in management

(2008) Andrew Eisen et al.   Amyotrophic Lateral Sclerosis

TDP-43A315T mutation in familial motor neuron disease

(2008) Michael A. Gitcho et al.   ANNALS OF NEUROLOGY

Neuromodulation in a minipig MPTP model of Parkinson disease

(2008) C. R. Bjarkam et al.   BRITISH JOURNAL OF NEUROSURGERY

Electrodiagnostic criteria for diagnosis of ALS

(2008) Mamede de Carvalho et al.   CLINICAL NEUROPHYSIOLOGY

ADrosophilaModel for Amyotrophic Lateral Sclerosis Reveals Motor Neuron Damage by Human SOD1

(2008) Melanie R. Watson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuron-Specific Expression of Mutant Superoxide Dismutase Is Sufficient to Induce Amyotrophic Lateral Sclerosis in Transgenic Mice

(2008) D. Jaarsma et al.   JOURNAL OF NEUROSCIENCE

Ablation of Proliferating Microglia Does Not Affect Motor Neuron Degeneration in Amyotrophic Lateral Sclerosis Caused by Mutant Superoxide Dismutase

(2008) G. Gowing et al.   JOURNAL OF NEUROSCIENCE

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

(2008) Vivianna M Van Deerlin et al.   LANCET NEUROLOGY

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis

(2008) Koji Yamanaka et al.   NATURE NEUROSCIENCE

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE