Profiling morphologic MRI features of motor neuron disease caused by TARDBP mutations

Structural MRI Signatures in Genetic Presentations of the Frontotemporal Dementia-Motor Neuron Disease Spectrum

(2021) Edoardo Gioele Spinelli et al.   NEUROLOGY

Dysfunction of the left angular gyrus may be associated with writing errors in ALS

(2020) Toru Sakurai et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Inferior Longitudinal Fasciculus’ Role in Visual Processing and Language Comprehension: A Combined MEG-DTI Study

(2019) Jiwon Shin et al.   Frontiers in Neuroscience

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

(2018) Ruth Chia et al.   LANCET NEUROLOGY

Changes in functional and structural brain connectome along the Alzheimer’s disease continuum

(2018) Massimo Filippi et al.   MOLECULAR PSYCHIATRY

Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients – An Atlas-Based Volumetric MRI Study

(2018) Sonja Schönecker et al.   Frontiers in Aging Neuroscience

TBK1mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation

(2017) Laura Pozzi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2017) Zhang-Yu Zou et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Structural and functional brain signatures of C9orf72 in motor neuron disease

(2017) Federica Agosta et al.   NEUROBIOLOGY OF AGING

Camptocormia as presenting in lower motor neuron disease with TARDBP mutation: case report

(2017) Enrica Filippelli et al.   NEUROLOGICAL SCIENCES

Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria

(2017) Michael J. Strong et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Higher Language Ability is Related to Angular Gyrus Activation Increase During Semantic Processing, Independent of Sentence Incongruency

(2016) Helene Van Ettinger-Veenstra et al.   Frontiers in Human Neuroscience

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Motor neuron disease-frontotemporal dementia: a clinical continuum

(2015) Emma Devenney et al.   Expert Review of Neurotherapeutics

TARDBP pathogenic mutations increase cytoplasmic translocation of TDP-43 and cause reduction of endoplasmic reticulum Ca2+ signaling in motor neurons

(2015) R. Mutihac et al.   NEUROBIOLOGY OF DISEASE

A single nucleotide TDP-43 mutation within a Taiwanese family: A multifaceted demon

(2015) Yu-Wen Cheng et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Motor neuron disease-frontotemporal dementia: a clinical continuum

(2015) Emma Devenney et al.   Expert Review of Neurotherapeutics

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

(2014) Janet Cady et al.   ANNALS OF NEUROLOGY

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

(2014) Janel O. Johnson et al.   BRAIN

The left inferior fronto-occipital fasciculus subserves language semantics: a multilevel lesion study

(2014) Fabien Almairac et al.   Brain Structure & Function

Microstructural white matter correlates of emotion recognition impairment in Amyotrophic Lateral Sclerosis

(2014) Chiara Crespi et al.   CORTEX

Disorders of emotional processing in amyotrophic lateral sclerosis

(2014) Anna Sedda   CURRENT OPINION IN NEUROLOGY

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

(2014) Gianluca Floris et al.   JOURNAL OF NEUROLOGY

Clinical, cognitive, and behavioural correlates of white matter damage in progressive supranuclear palsy

(2014) Federica Agosta et al.   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

Disease causing mutants of TDP-43 nucleic acid binding domains are resistant to aggregation and have increased stability and half-life

(2014) J. A. Austin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disruption of structural connectivity along the dorsal and ventral language pathways in patients with nonfluent and semantic variant primary progressive aphasia: A DT MRI study and a literature review

(2013) Federica Agosta et al.   BRAIN AND LANGUAGE

Intrahemispheric and interhemispheric structural network abnormalities in PLS and ALS

(2013) Federica Agosta et al.   HUMAN BRAIN MAPPING

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

(2013) Kevin P Kenna et al.   JOURNAL OF MEDICAL GENETICS

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

TARDBPmutation p.Ile383Val associated with semantic dementia and complex proteinopathy

(2013) E. Gelpi et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Mapping the connectivity underlying multimodal (verbal and non-verbal) semantic processing: A brain electrostimulation study

(2013) Sylvie Moritz-Gasser et al.   NEUROPSYCHOLOGIA

The Language Connectome

(2013) Anthony Steven Dick et al.   NEUROSCIENTIST

Screening for cognition and behaviour changes in ALS

(2013) Sharon Abrahams et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Accelerated Disease Onset with Stabilized Familial Amyotrophic Lateral Sclerosis (ALS)-linked Mutant TDP-43 Proteins

(2012) Shoji Watanabe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Forward and backward span for verbal and visuo-spatial data: standardization and normative data from an Italian adult population

(2012) Marco Monaco et al.   NEUROLOGICAL SCIENCES

Extensive genetics of ALS: A population-based study in Italy

(2012) A. Chio et al.   NEUROLOGY

Atrophy, hypometabolism and white matter abnormalities in semantic dementia tell a coherent story

(2011) J. Acosta-Cabronero et al.   BRAIN

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

(2011) Katya Rascovsky et al.   BRAIN

TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1

(2011) Karli K. McDonald et al.   HUMAN MOLECULAR GENETICS

White Matter Anisotropy in the Ventral Language Pathway Predicts Sound-to-Word Learning Success

(2011) F. C. K. Wong et al.   JOURNAL OF NEUROSCIENCE

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

(2011) Marialuisa Quadri et al.   NEUROGENETICS

Classification of primary progressive aphasia and its variants

(2011) M. L. Gorno-Tempini et al.   NEUROLOGY

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

(2011) Alan E. Renton et al.   NEURON

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

(2010) Adriano Chiò et al.   ARCHIVES OF NEUROLOGY

MRI predictors of long-term evolution in amyotrophic lateral sclerosis

(2010) Federica Agosta et al.   EUROPEAN 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

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

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

TDP-43 Is Directed to Stress Granules by Sorbitol, a Novel Physiological Osmotic and Oxidative Stressor

(2010) C. M. Dewey et al.   MOLECULAR AND CELLULAR BIOLOGY

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

TARDBPmutations in motoneuron disease with frontotemporal lobar degeneration

(2009) Lina Benajiba et al.   ANNALS OF NEUROLOGY

Language networks in semantic dementia

(2009) F. Agosta et al.   BRAIN

Expectancy Constraints in Degraded Speech Modulate the Language Comprehension Network

(2009) J. Obleser et al.   CEREBRAL CORTEX

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

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

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

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

Genetics of familial amyotrophic lateral sclerosis

(2008) P. N. Valdmanis et al.   NEUROLOGY

Ventral and dorsal pathways for language

(2008) D. Saur et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

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

(2007) Emanuele Buratti   Frontiers in Bioscience-Landmark