Advances in understanding the molecular basis of frontotemporal dementia

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

(2012) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

(2012) Heather Stewart et al.   ACTA NEUROPATHOLOGICA

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

(2012) A. Chio et al.   BRAIN

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

(2012) G.-Y. R. Hsiung et al.   BRAIN

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

(2012) Johnathan Cooper-Knock et al.   BRAIN

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

(2012) J. S. Snowden et al.   BRAIN

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

(2012) Javier Simón-Sánchez 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

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

(2012) C. J. Mahoney et al.   BRAIN

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

(2012) J. L. Whitwell et al.   BRAIN

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

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

C9orf72 repeat expansions in patients with ALS and FTD

(2012) Rosa Rademakers   LANCET NEUROLOGY

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation

(2011) Ian R. A. Mackenzie 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

Neuropathological background of phenotypical variability in frontotemporal dementia

(2011) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

A harmonized classification system for FTLD-TDP pathology

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

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis

(2011) N. Ticozzi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

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

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

(2011) Julie van der Zee et al.   BRAIN

Motor Neuron dysfunction in frontotemporal dementia

(2011) James R. Burrell 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

Understanding the role of TDP-43 and FUS/TLS in ALS and beyond

(2011) Sandrine Da Cruz et al.   CURRENT OPINION IN NEUROBIOLOGY

Phenotypic signatures of genetic frontotemporal dementia

(2011) Jonathan D. Rohrer et al.   CURRENT OPINION IN NEUROLOGY

Suberoylanilide Hydroxamic Acid (Vorinostat) Up-regulates Progranulin Transcription

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

Arginine Methylation of the Nuclear Poly(A) Binding Protein Weakens the Interaction with Its Nuclear Import Receptor, Transportin

(2011) Katharina Fronz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular Dissection of TDP-43 Proteinopathies

(2011) Masato Hasegawa et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

FUS Immunogold Labeling TEM Analysis of the Neuronal Cytoplasmic Inclusions of Neuronal Intermediate Filament Inclusion Disease: A Frontotemporal Lobar Degeneration with FUS Proteinopathy

(2011) Tristan Page et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Progranulin Deficiency Decreases Gross Neural Connectivity But Enhances Transmission at Individual Synapses

(2011) L. Tapia et al.   JOURNAL OF 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

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

(2011) Ilse Gijselinck et al.   LANCET NEUROLOGY

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

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

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

RNA targets of wild-type and mutant FET family proteins

(2011) Jessica I Hoell et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Extracellular progranulin protects cortical neurons from toxic insults by activating survival signaling

(2011) Jindong Xu et al.   NEUROBIOLOGY OF AGING

The chromosome 9 ALS and FTD locus is probably derived from a single founder

(2011) Kin Mok et al.   NEUROBIOLOGY OF AGING

rs5848 Variant of Progranulin Gene Is a Risk of Alzheimer’s Disease in the Taiwanese Population

(2011) Ming-Jen Lee et al.   Neurodegenerative Diseases

Functional Genomic Analyses Identify Pathways Dysregulated by Progranulin Deficiency, Implicating Wnt Signaling

(2011) Ezra Y. Rosen et al.   NEURON

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

Progranulin enhances neural progenitor cell proliferation through glycogen synthase kinase 3β phosphorylation

(2011) T. Nedachi et al.   NEUROSCIENCE

A yeast functional screen predicts new candidate ALS disease genes

(2011) J. Couthouis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Biomarkers in frontotemporal lobar degenerations—Progress and challenges

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

Neurodegeneration the RNA way

(2011) Abigail J. Renoux et al.   PROGRESS IN NEUROBIOLOGY

The Growth Factor Progranulin Binds to TNF Receptors and Is Therapeutic Against Inflammatory Arthritis in Mice

(2011) W. Tang et al.   SCIENCE

Distinct pathological subtypes of FTLD-FUS

(2010) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

(2010) Hazel Urwin et al.   ACTA NEUROPATHOLOGICA

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

miR-107 Regulates Granulin/Progranulin with Implications for Traumatic Brain Injury and Neurodegenerative Disease

(2010) Wang-Xia Wang et al.   AMERICAN JOURNAL OF PATHOLOGY

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

Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS

(2010) Daisuke Ito et al.   ANNALS OF NEUROLOGY

Identification of 2 Loci at Chromosomes 9 and 14 in a Multiplex Family With Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

(2010) Ilse Gijselinck et al.   ARCHIVES OF NEUROLOGY

Progranulin deficiency leads to enhanced cell vulnerability and TDP-43 translocation in primary neuronal cultures

(2010) Aobo Guo et al.   BRAIN RESEARCH

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

(2010) Dorothee Dormann et al.   EMBO JOURNAL

Increased caspase activation and decreased TDP-43 solubility in progranulin knockout cortical cultures

(2010) Gernot Kleinberger et al.   JOURNAL OF NEUROCHEMISTRY

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

(2010) Justin P. Pearson et al.   JOURNAL OF 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

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

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

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

MicroRNA-29b Regulates the Expression Level of Human Progranulin, a Secreted Glycoprotein Implicated in Frontotemporal Dementia

(2010) Jian Jiao et al.   PLoS One

The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation

(2010) Emanuele Buratti et al.   RNA Biology

Progranulin promotes neurite outgrowth and neuronal differentiation by regulating GSK-3β

(2010) Xue Gao et al.   Protein & Cell

Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease

(2009) Manuela Neumann et al.   ACTA NEUROPATHOLOGICA

FUS pathology in basophilic inclusion body disease

(2009) David G. Munoz et al.   ACTA NEUROPATHOLOGICA

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

(2009) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

(2009) Kristel Sleegers et al.   ANNALS OF NEUROLOGY

The granulin gene family: from cancer to dementia

(2009) Andrew Bateman et al.   BIOESSAYS

Progranulin is expressed within motor neurons and promotes neuronal cell survival

(2009) Cara L Ryan et al.   BMC NEUROSCIENCE

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

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

No evidence for cognitive dysfunction or depression in patients with mild restless legs syndrome

(2009) Erika Driver-Dunckley et al.   MOVEMENT DISORDERS

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

(2009) I. Le Ber et al.   NEUROLOGY

"Frontotemporoparietal" dementia: Clinical phenotype associated with the c.709-1G>A PGRN mutation

(2009) F. Moreno et al.   NEUROLOGY

The heritability and genetics of frontotemporal lobar degeneration

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

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

The TET Family of Proteins: Functions and Roles in Disease

(2009) A. Y. Tan et al.   Journal of Molecular Cell Biology

TDP-43-negative FTLD-U is a significant new clinico-pathological subtype of FTLD

(2008) Sigrun Roeber et al.   ACTA NEUROPATHOLOGICA

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

(2008) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

An association study between granulin gene polymorphisms and Alzheimer's disease in Finnish population

(2008) Jayashree Viswanathan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Pedigree with frontotemporal lobar degeneration – motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9

(2008) Agnes A Luty et al.   BMC Neurology

Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions

(2008) Ian R. A. Mackenzie 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

PRMT1 mediated methylation of TAF15 is required for its positive gene regulatory function

(2008) Laure Jobert et al.   EXPERIMENTAL CELL RESEARCH

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

Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival

(2008) Philip Van Damme et al.   JOURNAL OF CELL BIOLOGY

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

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

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

(2008) N. Brouwers et al.   NEUROLOGY

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

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Loss of progranulin function in frontotemporal lobar degeneration

(2008) Marc Cruts et al.   TRENDS IN GENETICS