Neuroinflammatory Pathways in the ALS-FTD Continuum: A Focus on Genetic Variants

The Need for Biomarkers in the ALS–FTD Spectrum: A Clinical Point of View on the Role of Proteomics

(2023) Francesca Vignaroli et al.   Proteomes

Microglial activation in the frontal cortex predicts cognitive decline in frontotemporal dementia

(2023) Maura Malpetti et al.   BRAIN

Differences in Cerebral Glucose Metabolism in ALS Patients with and without C9orf72 and SOD1 Mutations

(2023) Joke De Vocht et al.   Cells

Emerging Trends in the Field of Inflammation and Proteinopathy in ALS/FTD Spectrum Disorder

(2023) Fabiola De Marchi et al.   Biomedicines

Neutrophils-to-Lymphocyte Ratio Is Associated with Progression and Overall Survival in Amyotrophic Lateral Sclerosis

(2022) Maurizio A. Leone et al.   Biomedicines

Biomarker discovery and development for frontotemporal dementia and amyotrophic lateral sclerosis

(2022) Jared S. Katzeff et al.   BRAIN

The role of Th17 cells/IL-17A in AD, PD, ALS and the strategic therapy targeting on IL-17A

(2022) Jiajia Fu et al.   Journal of Neuroinflammation

Soluble TREM2 in CSF and its association with other biomarkers and cognition in autosomal-dominant Alzheimer's disease: a longitudinal observational study

(2022) Estrella Morenas-Rodríguez et al.   LANCET NEUROLOGY

NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis

(2022) Nilo Riva et al.   Frontiers in Neuroscience

The Role of Tau beyond Alzheimer’s Disease: A Narrative Review

(2022) Eleonora Virgilio et al.   Biomedicines

Systematic evaluation of genetic mutations in ALS: a population-based study

(2022) Maurizio Grassano et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

From Biomarkers to Precision Medicine in Neurodegenerative Diseases: Where Are We?

(2022) Giacomo Tondo et al.   Journal of Clinical Medicine

Plasma Neurofilament Light Chain and Clinical Diagnosis in Frontotemporal Dementia Syndromes

(2022) Suyi Ooi et al.   JOURNAL OF ALZHEIMERS DISEASE

Factors predicting disease progression in C9ORF72 ALS patients

(2022) Jessica Mandrioli et al.   JOURNAL OF NEUROLOGY

Random forest modelling demonstrates microglial and protein misfolding features to be key phenotypic markers in C9orf72 ‐ALS

(2022) Olivia M Rifai et al.   JOURNAL OF PATHOLOGY

Amyotrophic lateral sclerosis

(2022) Eva L Feldman et al.   LANCET

Lysosomal functions of progranulin and implications for treatment of frontotemporal dementia

(2022) Matthew J. Simon et al.   TRENDS IN CELL BIOLOGY

Relevance of plasma biomarkers to pathologies in Alzheimer’s disease, Parkinson’s disease and frontotemporal dementia

(2022) Pai-Yi Chiu et al.   Scientific Reports

Causal association between systemic lupus erythematosus and the risk of dementia: A Mendelian randomization study

(2022) Tianyu Jin et al.   Frontiers in Immunology

TBK1 (TANK-binding kinase 1)-mediated regulation of autophagy in health and disease

(2021) Lina Herhaus   MATRIX BIOLOGY

Brain Metabolism and Microglia Activation in Mild Cognitive Impairment: A Combined [18F]FDG and [11C]-(R)-PK11195 PET Study

(2021) Giacomo Tondo et al.   JOURNAL OF ALZHEIMERS DISEASE

The Links between ALS and NF-κB

(2021) Emma Källstig et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Progranulin in Neurodegenerative Dementia

(2021) Xiao‐Ming Wang et al.   JOURNAL OF NEUROCHEMISTRY

C9ORF72: What It Is, What It Does, and Why It Matters

(2021) Julie Smeyers et al.   Frontiers in Cellular Neuroscience

Integrated 18F-T807 Tau PET, Structural MRI, and Plasma Tau in Tauopathy Neurodegenerative Disorders

(2021) Cheng-Hsuan Li et al.   Frontiers in Aging Neuroscience

Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications

(2021) Dario Saracino et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Neuroinflammation in neurological disorders: pharmacotherapeutic targets from bench to bedside

(2021) Awanish Mishra et al.   METABOLIC BRAIN DISEASE

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

(2021) Edoardo Gioele Spinelli et al.   NEUROLOGY

C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation

(2021) Deepti Lall et al.   NEURON

Interplay between immunity and amyotrophic lateral sclerosis: Clinical impact

(2021) Fabiola De Marchi et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Evaluation of Neuropathological Features in the SOD1-G93A Low Copy Number Transgenic Mouse Model of Amyotrophic Lateral Sclerosis

(2021) Agnes Molnar-Kasza et al.   Frontiers in Molecular Neuroscience

Neurofilament markers in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis

(2021) Jiaying Shi et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Neutrophil-to-lymphocyte ratio in sporadic amyotrophic lateral sclerosis

(2021) Hui-Fang Shang et al.   Neural Regeneration Research

Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion

(2020) Peggy Barschke et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia

(2020) Carolin Heller et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience

(2020) Leila Sellami et al.   NEUROBIOLOGY OF AGING

High neutrophil-to-lymphocyte ratio predicts short survival duration in amyotrophic lateral sclerosis

(2020) Seok-Jin Choi et al.   Scientific Reports

Longitudinal biomarkers in amyotrophic lateral sclerosis

(2020) Fen Huang et al.   Annals of Clinical and Translational Neurology

11 C‐PK11195 PET–based molecular study of microglia activation in SOD1 amyotrophic lateral sclerosis

(2020) Giacomo Tondo et al.   Annals of Clinical and Translational Neurology

Elevated acute phase proteins reflect peripheral inflammation and disease severity in patients with amyotrophic lateral sclerosis

(2020) David R. Beers et al.   Scientific Reports

Neuroinflammation in neurodegenerative disorders: the roles of microglia and astrocytes

(2020) Hyuk Sung Kwon et al.   Translational Neurodegeneration

Detection of White Matter Ultrastructural Changes for Amyotrophic Lateral Sclerosis Characterization: A Diagnostic Study from Dti-Derived Data

(2020) Fabiola De Marchi et al.   Brain Sciences

18F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes

(2019) Richard M. Tsai et al.   Alzheimers Research & Therapy

MAPT mutations, tauopathy, and mechanisms of neurodegeneration

(2019) Kevin H. Strang et al.   LABORATORY INVESTIGATION

An update on genetic frontotemporal dementia

(2019) Caroline V. Greaves et al.   JOURNAL OF NEUROLOGY

Neurofilament light chain as a biomarker in neurological disorders

(2019) Lorenzo Gaetani et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Advantages and disadvantages of the use of the CSF Amyloid β (Aβ) 42/40 ratio in the diagnosis of Alzheimer’s Disease

(2019) Oskar Hansson et al.   Alzheimers Research & Therapy

Astrocyte alterations in neurodegenerative pathologies and their modeling in human induced pluripotent stem cell platforms

(2019) Minna Oksanen et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Diagnostic Value of Cerebrospinal Fluid Neurofilament Light Protein in Neurology

(2019) Claire Bridel et al.   JAMA Neurology

Neuropathological characterisation of a novel TBK1 loss of function mutation associated with amyotrophic lateral sclerosis

(2019) Marcel Weinreich et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Neuroinflammation as a Common Feature of Neurodegenerative Disorders

(2019) Leonardo Guzman-Martinez et al.   Frontiers in Pharmacology

Dysregulation of AMPA receptor subunit expression in sporadic ALS post‐mortem brain

(2019) Jenna M Gregory et al.   JOURNAL OF PATHOLOGY

Integrated MRI and [11 C]-PBR28 PET Imaging in Amyotrophic Lateral sclerosis

(2018) Mohamad J. Alshikho et al.   ANNALS OF NEUROLOGY

A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS

(2018) Carina Lehmer et al.   EMBO Molecular Medicine

Clinical utility of FDG-PET in amyotrophic lateral sclerosis and Huntington’s disease

(2018) Federica Agosta et al.   EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING

Advances in stem cell therapy for amyotrophic lateral sclerosis

(2018) Letizia Mazzini et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Astrocytes expressing ALS-linked mutant FUS induce motor neuron death through release of tumor necrosis factor-alpha

(2018) Azadeh Kia et al.   GLIA

Inflammation in CNS neurodegenerative diseases

(2018) Jodie Stephenson et al.   IMMUNOLOGY

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

(2018) Ruth Chia et al.   LANCET NEUROLOGY

The role of TREM2 in Alzheimer's disease and other neurodegenerative disorders

(2018) Susana Carmona et al.   LANCET NEUROLOGY

Association between TBK1 mutations and risk of amyotrophic lateral sclerosis/frontotemporal dementia spectrum: a meta-analysis

(2018) Rongrong Cui et al.   NEUROLOGICAL SCIENCES

[11C]PK11195 binding in Alzheimer disease and progressive supranuclear palsy

(2018) Luca Passamonti et al.   NEUROLOGY

TBK1 Suppresses RIPK1-Driven Apoptosis and Inflammation during Development and in Aging

(2018) Daichao Xu et al.   CELL

A case of Progressive Non-Fluent Aphasia as onset of Amyotrophic Lateral Sclerosis with FrontoTemporal Dementia

(2018) F. De Marchi et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase

(2018) Patrick Oeckl et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup

(2018) Ione O. C. Woollacott et al.   Alzheimers Research & Therapy

Integrated imaging of [11C]-PBR28 PET, MR diffusion and magnetic resonance spectroscopy 1H-MRS in amyotrophic lateral sclerosis

(2018) Eva-Maria Ratai et al.   NeuroImage-Clinical

C9orf72-FTD/ALS pathogenesis: evidence from human neuropathological studies

(2018) Sarat C. Vatsavayai et al.   ACTA NEUROPATHOLOGICA

Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis

(2018) Federico Verde et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Microglia in Neurological Diseases: A Road Map to Brain-Disease Dependent-Inflammatory Response

(2018) Sara Bachiller et al.   Frontiers in Cellular Neuroscience

The Trojan horse - neuroinflammatory impact of T cells in neurodegenerative diseases

(2017) Annika Sommer et al.   Molecular Neurodegeneration

Neurotoxic reactive astrocytes are induced by activated microglia

(2017) Shane A. Liddelow et al.   NATURE

Neurodegenerative disease: Loss of TDP-43 in microglia — friend or foe?

(2017) Charlotte Ridler   Nature Reviews Neurology

Insights into the protective role of immunity in neurodegenerative disease

(2017) Cristoforo Comi et al.   Neural Regeneration Research

Frontotemporal Dementia

(2017) Nicholas T. Olney et al.   NEUROLOGIC CLINICS

TDP-43 Depletion in Microglia Promotes Amyloid Clearance but Also Induces Synapse Loss

(2017) Rosa C. Paolicelli et al.   NEURON

Amyotrophic Lateral Sclerosis

(2017) Robert H. Brown et al.   NEW ENGLAND JOURNAL OF MEDICINE

Disease Mechanisms of C9ORF72 Repeat Expansions

(2017) Tania F. Gendron et al.   Cold Spring Harbor Perspectives in Medicine

Secular Trends of Amyotrophic Lateral Sclerosis

(2017) Adriano Chiò et al.   JAMA Neurology

Serum C-Reactive Protein as a Prognostic Biomarker in Amyotrophic Lateral Sclerosis

(2017) Christian Lunetta et al.   JAMA Neurology

Genetics of Frontotemporal Dementia

(2016) Diana A. Olszewska et al.   Current Neurology and Neuroscience Reports

Defining SOD1 ALS natural history to guide therapeutic clinical trial design

(2016) Taha Bali et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The frontotemporal dementia-motor neuron disease continuum

(2016) James R Burrell et al.   LANCET

Soluble TREM-2 in cerebrospinal fluid from patients with multiple sclerosis treated with natalizumab or mitoxantrone

(2016) Annika Öhrfelt et al.   Multiple Sclerosis Journal

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Glial activation colocalizes with structural abnormalities in amyotrophic lateral sclerosis

(2016) Mohamad J. Alshikho et al.   NEUROLOGY

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

(2016) Yuanjing Liu et al.   NEURON

TDP-43/FUS in motor neuron disease: Complexity and challenges

(2016) Erika N. Guerrero et al.   PROGRESS IN NEUROBIOLOGY

Soluble TREM-2 in cerebrospinal fluid from patients with multiple sclerosis treated with natalizumab or mitoxantrone

(2016) Annika Öhrfelt et al.   Multiple Sclerosis Journal

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

(2016) Lieke H. Meeter et al.   Annals of Clinical and Translational Neurology

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

Mutations in the ubiquitin-binding domain of OPTN/optineurin interfere with autophagy-mediated degradation of misfolded proteins by a dominant-negative mechanism

(2015) Wen-Chuan Shen et al.   Autophagy

CHCHD10mutations in Italian patients with sporadic amyotrophic lateral sclerosis: Figure 1

(2015) Dario Ronchi et al.   BRAIN

Inflammatory molecules in Frontotemporal Dementia: Cerebrospinal fluid signature of progranulin mutation carriers

(2015) D. Galimberti et al.   BRAIN BEHAVIOR AND IMMUNITY

SnapShot: Genetics of ALS and FTD

(2015) Rita Guerreiro et al.   CELL

Mapping neuroinflammation in frontotemporal dementia with molecular PET imaging

(2015) Jing Zhang   Journal of Neuroinflammation

Frontotemporal dementia

(2015) Jee Bang et al.   LANCET

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

18F-FDG-PET correlates of cognitive impairment in ALS

(2015) Antonio Canosa et al.   NEUROLOGY

Loss ofTBK1is a frequent cause of frontotemporal dementia in a Belgian cohort

(2015) Ilse Gijselinck et al.   NEUROLOGY

Invited review: Frontotemporal dementia caused bymicrotubule-associated protein taugene (MAPT) mutations: a chameleon for neuropathology and neuroimaging

(2015) Bernardino Ghetti et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Astrocyte-Derived TGF-β1 Accelerates Disease Progression in ALS Mice by Interfering with the Neuroprotective Functions of Microglia and T Cells

(2015) Fumito Endo et al.   Cell Reports

Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia

(2015) Alberto Benussi et al.   Frontiers in Aging Neuroscience

Criminal Behavior in Frontotemporal Dementia and Alzheimer Disease

(2015) Madeleine Liljegren et al.   JAMA Neurology

Increased in vivo glial activation in patients with amyotrophic lateral sclerosis: Assessed with [11C]-PBR28

(2015) Nicole R. Zürcher et al.   NeuroImage-Clinical

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

(2014) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

Comparing brain structural MRI and metabolic FDG-PET changes in patients with ALS-FTD: ‘the chicken or the egg?’ question

(2014) Venkateswaran Rajagopalan et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

(2014) Isabelle Le Ber et al.   NEUROBIOLOGY OF AGING

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

(2014) Annabelle Chaussenot et al.   NEUROBIOLOGY OF AGING

Microglia Induce Motor Neuron Death via the Classical NF-κB Pathway in Amyotrophic Lateral Sclerosis

(2014) Ashley E. Frakes et al.   NEURON

Nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB): a new potential therapeutic target in atherosclerosis?

(2014) Józefa Dąbek et al.   Pharmacological Reports

TARDBPandFUSMutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

(2013) Serena Lattante et al.   HUMAN MUTATION

Oligodendrocyte-microglia cross-talk in the central nervous system

(2013) Laura Peferoen et al.   IMMUNOLOGY

TDP-43 frontotemporal lobar degeneration and autoimmune disease

(2013) Z. A. Miller et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Degeneration and impaired regeneration of gray matter oligodendrocytes in amyotrophic lateral sclerosis

(2013) Shin H Kang et al.   NATURE NEUROSCIENCE

Autoimmune disease preceding amyotrophic lateral sclerosis: An epidemiologic study

(2013) M. R. Turner et al.   NEUROLOGY

Patterns of microglial cell activation in frontotemporal lobar degeneration

(2013) Suzannah B. Lant et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Molecular Imaging of Microglial Activation in Amyotrophic Lateral Sclerosis

(2013) Philippe Corcia et al.   PLoS One

Mouse models of frontotemporal dementia

(2012) Erik D. Roberson   ANNALS OF NEUROLOGY

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

(2012) Johnathan Cooper-Knock et al.   BRAIN

Regulatory T-lymphocytes mediate amyotrophic lateral sclerosis progression and survival

(2012) Jenny S. Henkel et al.   EMBO Molecular Medicine

Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions ofC9ORF72

(2012) Azza Ismail et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The potential of GPNMB as novel neuroprotective factor in amyotrophic lateral sclerosis

(2012) Hirotaka Tanaka et al.   Scientific Reports

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

(2011) Katya Rascovsky et al.   BRAIN

FTD and ALS: A Tale of Two Diseases

(2011) R. Ferrari et al.   Current Alzheimer Research

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

(2011) Max Koppers et al.   NEUROBIOLOGY OF AGING

Optimal Plasma Progranulin Cutoff Value for Predicting Null Progranulin Mutations in Neurodegenerative Diseases: A Multicenter Italian Study

(2011) Roberta Ghidoni et al.   Neurodegenerative Diseases

Classification of primary progressive aphasia and its variants

(2011) M. L. Gorno-Tempini 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

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

In vivo detection of neuropathologic changes in presymptomatic MAPT mutation carriers: A PET and MRI study

(2010) Michie Miyoshi et al.   PARKINSONISM & RELATED DISORDERS

Mutant superoxide dismutase 1-induced IL-1  accelerates ALS pathogenesis

(2010) F. Meissner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

(2009) Jeong-Sun Ju et al.   JOURNAL OF CELL BIOLOGY

Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice

(2009) Fangfang Yin et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

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

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

TDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer’s disease and frontotemporal lobar degeneration

(2008) Penelope Foulds et al.   ACTA NEUROPATHOLOGICA

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

(2008) Petra Steinacker et al.   ARCHIVES OF NEUROLOGY

Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia

(2008) John C van Swieten et al.   LANCET NEUROLOGY

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

T lymphocytes potentiate endogenous neuroprotective inflammation in a mouse model of ALS

(2008) I. M. Chiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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