TARDBPandFUSMutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

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

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

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

(2012) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novelTARDBPinsertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis

(2012) Jennifer A. Solski et al.   Amyotrophic Lateral Sclerosis

TDP-43 plasma levels are higher in amyotrophic lateral sclerosis

(2012) Esther Verstraete et al.   Amyotrophic Lateral Sclerosis

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience

(2012) Jeffrey A. Brown et al.   Amyotrophic Lateral Sclerosis

Novel FUS Deletion in a Patient With Juvenile Amyotrophic Lateral Sclerosis

(2012) Jean-Sébastien Langlais   ARCHIVES OF NEUROLOGY

Non-human primate model of amyotrophic lateral sclerosis with cytoplasmic mislocalization of TDP-43

(2012) Azusa Uchida et al.   BRAIN

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease

(2012) Oliver D. King et al.   BRAIN RESEARCH

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia

(2012) Marka van Blitterswijk et al.   CURRENT OPINION IN NEUROLOGY

Genetic analysis of theFUS/TLSgene in essential tremor

(2012) N. Parmalee et al.   EUROPEAN JOURNAL OF NEUROLOGY

Screening of the FUS gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin

(2012) Z.-Y. Zou et al.   EUROPEAN JOURNAL OF NEUROLOGY

The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth

(2012) Claudia Fallini et al.   HUMAN MOLECULAR GENETICS

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis

(2012) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

Roles of Ataxin-2 in Pathological Cascades Mediated by TAR DNA-binding Protein 43 (TDP-43) and Fused in Sarcoma (FUS)

(2012) Yoshihiro Nihei et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Novel TARDBP mutations in Nordic ALS patients

(2012) Huei-Hsin Chiang et al.   JOURNAL OF HUMAN GENETICS

Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation

(2012) Makoto Hara et al.   JOURNAL OF NEUROLOGY

Familial ALS with FUS P525L mutation: two Japanese sisters with multiple systems involvement

(2012) Yoko Mochizuki et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin

(2012) Zhang-Yu Zou et al.   NEUROBIOLOGY OF AGING

Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject

(2012) Lorena Mosca et al.   NEUROBIOLOGY OF AGING

Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS

(2012) Min-Jung Kwon et al.   NEUROBIOLOGY OF AGING

De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China

(2012) Zhang-Yu Zou et al.   NEUROBIOLOGY OF AGING

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

(2012) S. Lattante et al.   NEUROLOGY

TARDBP mutations in Parkinson's disease

(2012) Sruti Rayaprolu et al.   PARKINSONISM & RELATED DISORDERS

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA

(2012) Tomohiro Yamazaki et al.   Cell Reports

TDP-1/TDP-43 Regulates Stress Signaling and Age-Dependent Proteotoxicity in Caenorhabditis elegans

(2012) Alexandra Vaccaro et al.   PLoS Genetics

Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family

(2011) Julien Praline et al.   Amyotrophic Lateral Sclerosis

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

Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

(2011) Hussein Daoud et al.   ARCHIVES OF NEUROLOGY

Motor Neuron dysfunction in frontotemporal dementia

(2011) James R. Burrell et al.   BRAIN

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

(2011) Vivek Swarup et al.   BRAIN

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis

(2011) S Orrù et al.   CLINICAL GENETICS

Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis

(2011) I Piaceri et al.   CLINICAL 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

The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study

(2011) Julie Phukan et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2011) Han-Xiang Deng et al.   NATURE

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD

(2011) Giuseppe Borghero et al.   NEUROBIOLOGY OF AGING

FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis

(2011) William Sproviero 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

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

(2011) Marialuisa Quadri et al.   NEUROGENETICS

Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation

(2011) Y. Fujita et al.   NEUROLOGY

P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis

(2011) Amelia Conte et al.   NEUROMUSCULAR DISORDERS

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

Neuronal Function and Dysfunction of Drosophila dTDP

(2011) Meng-Jau Lin et al.   PLoS One

Biomarkers in frontotemporal lobar degenerations—Progress and challenges

(2011) William T. Hu et al.   PROGRESS IN NEUROBIOLOGY

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

(2011) Edor Kabashi et al.   PLoS Genetics

Cytoplasmic accumulation of TDP-43 in circulating lymphomonocytes of ALS patients with and without TARDBP mutations

(2010) Giovanni De Marco et al.   ACTA NEUROPATHOLOGICA

Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis

(2010) Brian C. Kraemer et al.   ACTA NEUROPATHOLOGICA

Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling

(2010) Paola Origone et al.   Amyotrophic Lateral Sclerosis

FUS/TLSgene mutations are the second most frequent cause of familial ALS in the Spanish population

(2010) Enrique Syriani 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

Current hypotheses for the underlying biology of amyotrophic lateral sclerosis

(2010) Jeffrey D. Rothstein   ANNALS OF NEUROLOGY

FUS Mutations in Familial Amyotrophic Lateral Sclerosis in the Netherlands

(2010) Ewout J. N. Groen et al.   ARCHIVES OF NEUROLOGY

Novel FUS/TLS Mutations and Pathology in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2010) Christopher Hewitt et al.   ARCHIVES OF NEUROLOGY

Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis

(2010) Hui-Ling Xiong et al.   BMC Medical Genetics

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

Neurotoxic effects of TDP-43 overexpression in C. elegans

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

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

(2010) Daryl A. Bosco et al.   HUMAN MOLECULAR GENETICS

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

(2010) Mariely DeJesus-Hernandez et al.   HUMAN MUTATION

Familial ALS with G298S Mutation in TARDBP: A Comparison of CSF Tau Protein Levels with those in Sporadic ALS

(2010) Ichiro Nozaki et al.   INTERNAL MEDICINE

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

Amyotrophic Lateral Sclerosis-associated Proteins TDP-43 and FUS/TLS Function in a Common Biochemical Complex to Co-regulate HDAC6 mRNA

(2010) Sang Hwa Kim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis

(2010) Véronique V Belzil et al.   JOURNAL OF HUMAN GENETICS

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

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

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

(2010) F. L. Conforti et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

TDP-43 Mediates Degeneration in a Novel Drosophila Model of Disease Caused by Mutations in VCP/p97

(2010) G. P. Ritson et al.   JOURNAL OF NEUROSCIENCE

Cytoplasmic Mislocalization of TDP-43 Is Toxic to Neurons and Enhanced by a Mutation Associated with Familial Amyotrophic Lateral Sclerosis

(2010) S. J. Barmada 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

A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: A clinical, pathological and genetic report

(2010) Yukiko Yamamoto-Watanabe et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Fusgene mutations in familial and sporadic amyotrophic lateral sclerosis

(2010) Rosa Rademakers et al.   MUSCLE & NERVE

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

FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS

(2010) Ching-Paio Tsai et al.   NEUROBIOLOGY OF AGING

A novel double mutation in FUS gene causing sporadic ALS

(2010) J. Robertson et al.   NEUROBIOLOGY OF AGING

A de novo missense mutation of the FUS gene in a “true” sporadic ALS case

(2010) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

FUS mutations in sporadic amyotrophic lateral sclerosis

(2010) Shiao-Lin Lai et al.   NEUROBIOLOGY OF AGING

Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis

(2010) Nicola J. Rutherford et al.   NEUROBIOLOGY OF AGING

Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese

(2010) Aritoshi Iida et al.   NEUROBIOLOGY OF AGING

TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis

(2010) Rui Huang et al.   NEUROBIOLOGY OF AGING

Both cytoplasmic and nuclear accumulations of the protein are neurotoxic in Drosophila models of TDP-43 proteinopathies

(2010) Laetitia Miguel et al.   NEUROBIOLOGY OF DISEASE

Novel missense and truncating mutations in FUS/TLS in familial ALS

(2010) S. Waibel et al.   NEUROLOGY

Genetic contribution of FUS to frontotemporal lobar degeneration

(2010) T. Van Langenhove et al.   NEUROLOGY

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

(2010) D. Baumer et al.   NEUROLOGY

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

(2010) J. Yan et al.   NEUROLOGY

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

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

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS

(2010) S.-C. Ling et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Plasma phosphorylated-TDP-43 protein levels correlate with brain pathology in frontotemporal lobar degeneration

(2009) Penelope G. Foulds et al.   ACTA NEUROPATHOLOGICA

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

(2009) Clement Y. Chow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TARDBPmutations in motoneuron disease with frontotemporal lobar degeneration

(2009) Lina Benajiba et al.   ANNALS OF NEUROLOGY

Rethinking ALS: The FUS about TDP-43

(2009) Clotilde Lagier-Tourenne et al.   CELL

Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6

(2009) Fabienne C Fiesel et al.   EMBO JOURNAL

The occurrence of mutations inFUSin a Belgian cohort of patients with familial ALS

(2009) P. Van Damme et al.   EUROPEAN JOURNAL OF NEUROLOGY

TARDBP(TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations

(2009) R. Del Bo et al.   EUROPEAN JOURNAL OF NEUROLOGY

Depletion of TDP-43 affectsDrosophila motoneuronsterminal synapsis and locomotive behavior

(2009) Fabian Feiguin et al.   FEBS LETTERS

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

High frequency ofTARDBPgene mutations in Italian patients with amyotrophic lateral sclerosis

(2009) Lucia Corrado et al.   HUMAN MUTATION

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

TDP-43 Depletion Induces Neuronal Cell Damage through Dysregulation of Rho Family GTPases

(2009) Yohei Iguchi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterization of Alternative Isoforms and Inclusion Body of the TAR DNA-binding Protein-43

(2009) Yoshinori Nishimoto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TDP-43 Is a Developmentally Regulated Protein Essential for Early Embryonic Development

(2009) Chantelle F. Sephton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

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

Proteolytic processing of TAR DNA binding protein-43 by caspases produces C-terminal fragments with disease defining properties independent of progranulin

(2009) Dorothee Dormann et al.   JOURNAL OF NEUROCHEMISTRY

TDP-43 is recruited to stress granules in conditions of oxidative insult

(2009) Claudia Colombrita et al.   JOURNAL OF NEUROCHEMISTRY

TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation

(2009) D Baumer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred

(2009) K L Williams et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

TDP-43 M311V mutation in familial amyotrophic lateral sclerosis

(2009) R Lemmens et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

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

Incidence of amyotrophic lateral sclerosis in Europe

(2009) G. Logroscino et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Global Analysis of TDP-43 Interacting Proteins Reveals Strong Association with RNA Splicing and Translation Machinery

(2009) Brian D. Freibaum et al.   JOURNAL OF PROTEOME RESEARCH

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea

(2009) Gabor G. Kovacs et al.   MOVEMENT DISORDERS

Motor-neuron disease: Rogue gene in the family

(2009) Kristel Sleegers et al.   NATURE

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

(2009) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany

(2009) Carsten Drepper et al.   NEUROBIOLOGY OF AGING

Mutational analysis of TARDBP in neurodegenerative diseases

(2009) Nicola Ticozzi et al.   NEUROBIOLOGY OF AGING

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

(2009) Janine Kirby et al.   NEUROGENETICS

Epidemiology of ALS in Italy: A 10-year prospective population-based study

(2009) A. Chio et al.   NEUROLOGY

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

(2009) N. Ticozzi et al.   NEUROLOGY

Mutations in FUS cause FALS and SALS in French and French Canadian populations

(2009) V. V. Belzil et al.   NEUROLOGY

The RNA-binding protein FUS/TLS is a common aggregate-interacting protein in polyglutamine diseases

(2009) Hiroshi Doi et al.   NEUROSCIENCE RESEARCH

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

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

(2009) Y.-J. Zhang 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

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

(2008) Takashi Kasai et al.   ACTA NEUROPATHOLOGICA

The syndromes of frontotemporal dysfunction in amyotrophic lateral sclerosis

(2008) Michael J. Strong   Amyotrophic Lateral Sclerosis

TDP-43mutation in familial amyotrophic lateral sclerosis

(2008) Akio Yokoseki et al.   ANNALS OF NEUROLOGY

Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2008) Masato Hasegawa et al.   ANNALS OF NEUROLOGY

TDP-43 in Cerebrospinal Fluid of Patients With Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

(2008) Petra Steinacker et al.   ARCHIVES OF NEUROLOGY

Two German Kindreds With Familial Amyotrophic Lateral Sclerosis Due to TARDBP Mutations

(2008) Peter Kühnlein et al.   ARCHIVES OF NEUROLOGY

Divergent patterns of cytosolic TDP-43 and neuronal progranulin expression following axotomy: Implications for TDP-43 in the physiological response to neuronal injury

(2008) Katie Moisse et al.   BRAIN RESEARCH

A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro

(2008) Matthew J. Winton et al.   FEBS LETTERS

TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor

(2008) I.-Fan Wang et al.   JOURNAL OF NEUROCHEMISTRY

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

(2008) C C Weihl et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Colocalization of Transactivation-Responsive DNA-Binding Protein 43 and Huntingtin in Inclusions of Huntington Disease

(2008) Claudia Schwab et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

(2008) Ilse Gijselinck et al.   NEUROBIOLOGY OF AGING

TLS-GFP cannot rescue mRNP formation near spines and spine phenotype in TLS-KO

(2008) Ritsuko Fujii et al.   NEUROREPORT

TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis

(2008) Rita J. Guerreiro et al.   PLoS One

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

(2008) Nicola J. Rutherford et al.   PLoS Genetics

Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease

(2007) Emanuele Buratti   Frontiers in Bioscience-Landmark

Progranulin locus deletion in frontotemporal dementia

(2007) I. Gijselinck et al.   HUMAN MUTATION