Genetics of FTLD: overview and what else we can expect from genetic studies

Clinical Trials in a Dish: The Potential of Pluripotent Stem Cells to Develop Therapies for Neurodegenerative Diseases

(2016) Kelly M. Haston et al.   Annual Review of Pharmacology and Toxicology

An amyloid-like cascade hypothesis for C9orf72 ALS/FTD

(2016) Dieter Edbauer et al.   CURRENT OPINION IN NEUROBIOLOGY

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

(2015) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

(2015) Emma L. Clayton et al.   ACTA NEUROPATHOLOGICA

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72

(2015) Marka van Blitterswijk et al.   ACTA NEUROPATHOLOGICA

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

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

(2015) Christina M. Lill et al.   Alzheimers & Dementia

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

(2015) Max Koppers et al.   ANNALS OF NEUROLOGY

Analysis of theCHCHD10gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

(2015) Oriol Dols-Icardo et al.   BRAIN

Mutation analysis ofCHCHD10in different neurodegenerative diseases

(2015) Ming Zhang et al.   BRAIN

Closing the tau loop: the missing tau mutation

(2015) Allan McCarthy et al.   BRAIN

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

(2015) E. C. Genin et al.   EMBO Molecular Medicine

Prosaposin facilitates sortilin-independent lysosomal trafficking of progranulin

(2015) Xiaolai Zhou et al.   JOURNAL OF CELL BIOLOGY

Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation inC9orf72

(2015) Hiroyuki Ishiura et al.   JOURNAL OF NEUROGENETICS

Frontotemporal dementia

(2015) Jee Bang et al.   LANCET

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis

(2015) Jonathan D Rohrer et al.   LANCET NEUROLOGY

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

(2015) Jonathan D Rohrer et al.   LANCET NEUROLOGY

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

C9orf72 repeats compromise nucleocytoplasmic transport

(2015) Marka van Blitterswijk et al.   Nature Reviews Neurology

Tau in physiology and pathology

(2015) Yipeng Wang et al.   NATURE REVIEWS NEUROSCIENCE

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

(2015) Chun Hao Wong et al.   NEUROBIOLOGY OF AGING

A UBQLN2 variant of unknown significance in frontotemporal lobar degeneration

(2015) Francis Ugwu et al.   NEUROBIOLOGY OF AGING

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia

(2015) Raffaele Ferrari et al.   NEUROBIOLOGY OF AGING

Multisystem proteinopathy: Table

(2015) J. Paul Taylor   NEUROLOGY

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

(2015) Ilse Gijselinck et al.   NEUROLOGY

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

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

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

(2015) Johnathan Cooper-Knock et al.   Neurotherapeutics

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

(2015) J. Chew et al.   SCIENCE

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)

(2015) Serena Lattante et al.   TRENDS IN GENETICS

Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia

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

Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations

(2015) Giacomina Rossi et al.   Frontiers in Aging Neuroscience

A Novel Triple Repeat Mutant Tau Transgenic Model That Mimics Aspects of Pick’s Disease and Fronto-Temporal Tauopathies

(2015) Edward Rockenstein et al.   PLoS One

Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability

(2014) Malcolm Proudfoot et al.   ACTA NEUROPATHOLOGICA

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

(2014) Yong-Jie Zhang et al.   ACTA NEUROPATHOLOGICA

Primary age-related tauopathy (PART): a common pathology associated with human aging

(2014) John F. Crary et al.   ACTA NEUROPATHOLOGICA

Mechanisms of toxicity in C9FTLD/ALS

(2014) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Hippocampal sclerosis in Lewy body disease is a TDP-43 proteinopathy similar to FTLD-TDP Type A

(2014) Naoya Aoki et al.   ACTA NEUROPATHOLOGICA

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

(2014) Julie van der Zee et al.   ACTA NEUROPATHOLOGICA

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

(2014) Michael D. Gallagher et al.   ACTA NEUROPATHOLOGICA

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

(2014) Marka van Blitterswijk et al.   ACTA NEUROPATHOLOGICA

Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine

(2014) David J. Irwin et al.   ACTA NEUROPATHOLOGICA

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

Functions of FUS/TLS From DNA Repair to Stress Response: Implications for ALS

(2014) Reddy Ranjith Kumar Sama et al.   ASN Neuro

PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology

(2014) Tsz Hang Wong et al.   BRAIN

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

(2014) Janel O. Johnson et al.   BRAIN

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

(2014) Johnathan Cooper-Knock et al.   BRAIN

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia

(2014) Sarah Mizielinska et al.   CURRENT OPINION IN NEUROLOGY

SQSTM1 mutations – Bridging Paget disease of bone and ALS/FTLD

(2014) Sarah L. Rea et al.   EXPERIMENTAL CELL RESEARCH

Dissection of genetic factors associated with amyotrophic lateral sclerosis

(2014) Claire S. Leblond et al.   EXPERIMENTAL NEUROLOGY

Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients

(2014) Zhengrui Xi et al.   HUMAN MOLECULAR GENETICS

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

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

The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis

(2014) H. Meyer et al.   JOURNAL OF CELL SCIENCE

Frontotemporal dementia and its subtypes: a genome-wide association study

(2014) Raffaele Ferrari et al.   LANCET NEUROLOGY

Lysosome size, motility and stress response regulated by fronto-temporal dementia modifier TMEM106B

(2014) Massimiliano Stagi et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

(2014) Marka van Blitterswijk et al.   Molecular Neurodegeneration

Progranulin protects against amyloid β deposition and toxicity in Alzheimer's disease mouse models

(2014) S Sakura Minami et al.   NATURE MEDICINE

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

Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and  C9orf72 repeat expansions

(2014) Serena Lattante et al.   NEUROBIOLOGY OF AGING

Progranulin protein levels are differently regulated in plasma and CSF

(2014) A. M. Nicholson et al.   NEUROLOGY

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

(2014) Zhaoming Su et al.   NEURON

Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death

(2014) Xinmei Wen et al.   NEURON

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

Parkinsonian syndrome in familial frontotemporal dementia

(2014) Joanna Siuda et al.   PARKINSONISM & RELATED DISORDERS

Progranulin Gene Delivery Protects Dopaminergic Neurons in a Mouse Model of Parkinson’s Disease

(2014) Jackalina M. Van Kampen et al.   PLoS One

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

(2014) S. Mizielinska et al.   SCIENCE

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

(2014) I. Kwon et al.   SCIENCE

Progranulin in neurodegenerative disease

(2014) Terri L. Petkau et al.   TRENDS IN NEUROSCIENCES

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

(2013) Ian R. Mackenzie et al.   ACTA NEUROPATHOLOGICA

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci

(2013) Sarah Mizielinska et al.   ACTA NEUROPATHOLOGICA

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

(2013) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

(2013) Veronique V. Belzil et al.   ACTA NEUROPATHOLOGICA

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

(2013) Timothy P. Levine et al.   BIOINFORMATICS

C9ORF72 expansion in a family with bipolar disorder

(2013) Miriam H Meisler et al.   BIPOLAR DISORDERS

TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia

(2013) Alexandra M. Nicholson et al.   JOURNAL OF NEUROCHEMISTRY

Dissociation of Frontotemporal Dementia-Related Deficits and Neuroinflammation in Progranulin Haploinsufficient Mice

(2013) A. J. Filiano et al.   JOURNAL OF NEUROSCIENCE

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

(2013) Marka van Blitterswijk et al.   LANCET NEUROLOGY

Fused in sarcoma (FUS): An oncogene goes awry in neurodegeneration

(2013) Dorothee Dormann et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease

(2013) Sruti Rayaprolu et al.   Molecular Neurodegeneration

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients

(2013) Lubina Dillen et al.   NEUROBIOLOGY OF AGING

A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family

(2013) Rita Guerreiro et al.   NEUROBIOLOGY OF AGING

The C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia

(2013) Daniela Galimberti et al.   NEUROBIOLOGY OF AGING

A cognitive chameleon: Lessons from a novelMAPTmutation case

(2013) Yuying Liang et al.   NEUROCASE

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

(2013) M. van Blitterswijk et al.   NEUROLOGY

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

(2013) D. J. Hensman Moss et al.   NEUROLOGY

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

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

(2013) Christopher J. Donnelly et al.   NEURON

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

(2013) Martine Therrien et al.   PLoS One

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

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement

(2013) Rita João Guerreiro et al.   JAMA Neurology

Development and Validation of Pedigree Classification Criteria for Frontotemporal Lobar Degeneration

(2013) Elisabeth M. Wood et al.   JAMA Neurology

Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations

(2012) Manuela Neumann et al.   ACTA NEUROPATHOLOGICA

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

(2012) Katherine R. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway

(2012) Jeong-Ho Han et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice

(2012) Shabnam Ghazi-Noori et al.   BRAIN

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

(2012) J. S. Snowden et al.   BRAIN

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

(2012) Bradley F. Boeve et al.   BRAIN

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

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

Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS

(2012) Dorothee Dormann et al.   EMBO JOURNAL

Phenotypic variability in three families withvalosin-containing proteinmutation

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

The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function

(2012) Owen A. Brady et al.   HUMAN MOLECULAR GENETICS

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

(2012) Giovanni Coppola et al.   HUMAN MOLECULAR GENETICS

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

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

Membrane Orientation and Subcellular Localization of Transmembrane Protein 106B (TMEM106B), a Major Risk Factor for Frontotemporal Lobar Degeneration

(2012) Christina M. Lang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TMEM106B, the Risk Gene for Frontotemporal Dementia, Is Regulated by the microRNA-132/212 Cluster and Affects Progranulin Pathways

(2012) A. S. Chen-Plotkin et al.   JOURNAL OF NEUROSCIENCE

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

Mechanisms of Granulin Deficiency: Lessons from Cellular and Animal Models

(2012) Gernot Kleinberger et al.   MOLECULAR NEUROBIOLOGY

Progranulin regulates neuronal outgrowth independent of Sortilin

(2012) Jennifer Gass et al.   Molecular Neurodegeneration

Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype

(2012) Matthis Synofzik et al.   NEUROBIOLOGY OF AGING

TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease

(2012) N. J. Rutherford et al.   NEUROLOGY

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

Repeat Expansion inC9ORF72in Alzheimer's Disease

(2012) Elisa Majounie et al.   NEW ENGLAND JOURNAL OF MEDICINE

A harmonized classification system for FTLD-TDP pathology

(2011) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Association of TMEM106B Gene Polymorphism With Age at Onset in Granulin Mutation Carriers and Plasma Granulin Protein Levels

(2011) Carlos Cruchaga et al.   ARCHIVES OF NEUROLOGY

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort

(2011) Julie van der Zee et al.   BRAIN

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations

(2011) Manuela Neumann et al.   BRAIN

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

(2011) Katya Rascovsky et al.   BRAIN

FET proteins in frontotemporal dementia and amyotrophic lateral sclerosis

(2011) Ian R.A. Mackenzie et al.   BRAIN RESEARCH

Autophagy and innate immunity ally against bacterial invasion

(2011) Lorenzo Galluzzi et al.   EMBO JOURNAL

Suberoylanilide Hydroxamic Acid (Vorinostat) Up-regulates Progranulin Transcription

(2011) Basar Cenik et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuropathology of Frontotemporal Lobar Degeneration-Tau (FTLD-Tau)

(2011) Dennis W. Dickson et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Rescue of Progranulin Deficiency Associated with Frontotemporal Lobar Degeneration by Alkalizing Reagents and Inhibition of Vacuolar ATPase

(2011) A. Capell et al.   JOURNAL OF NEUROSCIENCE

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

(2011) Han-Xiang Deng et al.   NATURE

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

(2011) Rosa Rademakers et al.   NATURE GENETICS

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis

(2011) Sara Rollinson 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

Classification of primary progressive aphasia and its variants

(2011) M. L. Gorno-Tempini et al.   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

TBK1 Mediates Crosstalk Between the Innate Immune Response and Autophagy

(2011) H. Weidberg et al.   Science Signaling

Genome-wide Screen Identifies rs646776 near Sortilin as a Regulator of Progranulin Levels in Human Plasma

(2010) Minerva M. Carrasquillo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Accelerated Lipofuscinosis and Ubiquitination in Granulin Knockout Mice Suggest a Role for Progranulin in Successful Aging

(2010) Zeshan Ahmed et al.   AMERICAN JOURNAL OF PATHOLOGY

Disentangling the Role of the Tau Gene Locus in Sporadic Tauopathies

(2010) J. Vandrovcova et al.   Current Alzheimer Research

Behavioral deficits and progressive neuropathology in progranulin-deficient mice: a mouse model of frontotemporal dementia

(2010) Fangfang Yin et al.   FASEB JOURNAL

Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy

(2010) J. S. Ju et al.   HUMAN MOLECULAR GENETICS

Progranulin expression in the developing and adult murine brain

(2010) Terri L. Petkau et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

(2010) A. L. Boxer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

(2010) Hannu Laaksovirta et al.   LANCET NEUROLOGY

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

(2010) Aleksey Shatunov et al.   LANCET NEUROLOGY

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

(2010) Vivianna M Van Deerlin et al.   NATURE GENETICS

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers

(2010) N. Finch et al.   NEUROLOGY

Sortilin-Mediated Endocytosis Determines Levels of the Frontotemporal Dementia Protein, Progranulin

(2010) Fenghua Hu et al.   NEURON

Review: Transactive response DNA-binding protein 43 (TDP-43): mechanisms of neurodegeneration

(2010) T. F. Gendron et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

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

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

(2009) Kristel Sleegers et al.   ANNALS OF NEUROLOGY

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

(2009) N. Finch et al.   BRAIN

A new subtype of frontotemporal lobar degeneration with FUS pathology

(2009) M. Neumann et al.   BRAIN

Presymptomatic Generalized Brain Atrophy in Frontotemporal Dementia Caused by CHMP2B Mutation

(2009) Jonathan D. Rohrer et al.   DEMENTIA AND GERIATRIC COGNITIVE DISORDERS

A zebrafish model of tauopathy allows in vivo imaging of neuronal cell death and drug evaluation

(2009) Dominik Paquet et al.   JOURNAL OF CLINICAL INVESTIGATION

Pathogenic cysteine mutations affect progranulin function and production of mature granulins

(2009) Jun Wang et al.   JOURNAL OF NEUROCHEMISTRY

DCTN1 mutations in Perry syndrome

(2009) Matthew J Farrer et al.   NATURE GENETICS

No association of PGRN 3′UTR rs5848 in frontotemporal lobar degeneration

(2009) Sara Rollinson et al.   NEUROBIOLOGY OF AGING

Characterization of DCTN1 genetic variability in neurodegeneration

(2009) C. Vilarino-Guell et al.   NEUROLOGY

The heritability and genetics of frontotemporal lobar degeneration

(2009) J. D. Rohrer et al.   NEUROLOGY

Variation at GRN 3′-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population

(2009) Javier Simón-Sánchez et al.   PLoS One

Genetic screen identifies serpin5 as a regulator of the toll pathway and CHMP2B toxicity associated with frontotemporal dementia

(2009) S. T. Ahmad et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

(2008) Virginia. E. Kimonis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

(2008) Isabelle Le Ber et al.   BRAIN

Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations

(2008) Stuart M. Pickering-Brown et al.   BRAIN

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

(2008) J. Beck et al.   BRAIN

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

(2008) Rosa Rademakers et al.   HUMAN MOLECULAR GENETICS

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: An update

(2008) I. Gijselinck et al.   HUMAN MUTATION

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration

(2008) R. Ghidoni et al.   NEUROLOGY

Distinct genetic forms of frontotemporal dementia

(2008) H. Seelaar et al.   NEUROLOGY

Knock-out and transgenic mouse models of tauopathies

(2007) Franziska Denk et al.   NEUROBIOLOGY OF AGING