Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms

Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses

(2019) Anil B. Mukherjee et al.   Molecular Neurodegeneration

Neuronal ceroid lipofuscinosis type-11 in an adolescent

(2019) Mahesh Kamate et al.   BRAIN & DEVELOPMENT

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

(2018) Cyril Pottier et al.   LANCET NEUROLOGY

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study

(2018) Daniela Galimberti et al.   NEUROBIOLOGY OF AGING

Phenotypic Variability of Familial and Sporadic Progranulin p.Gln257Profs*27 Mutation

(2018) Carolina Pires et al.   JOURNAL OF ALZHEIMERS DISEASE

C9ORF72 Repeat Expansions in the Frontotemporal Dementias Spectrum of Diseases: A Flow-chart for Genetic Testing

(2018) Isabelle Le Ber et al.   JOURNAL OF ALZHEIMERS DISEASE

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

(2018) Sara E Mole et al.   LANCET NEUROLOGY

Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration

(2017) Matthias Groh et al.   JOURNAL OF MOLECULAR BIOLOGY

Lysosomal processing of progranulin

(2017) Xiaolai Zhou et al.   Molecular Neurodegeneration

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

(2017) Michael E. Ward et al.   Science Translational Medicine

Timing and significance of pathological features inC9orf72expansion-associated frontotemporal dementia

(2016) Sarat C. Vatsavayai et al.   BRAIN

A new phenotype associated with homozygousGRNmutations: complicated spastic paraplegia

(2016) I. Faber et al.   EUROPEAN JOURNAL OF NEUROLOGY

Plasma Screening for Progranulin Mutations in Patients with Progressive Supranuclear Palsy and Corticobasal Syndromes

(2016) Daniela Galimberti et al.   JOURNAL OF ALZHEIMERS DISEASE

Lessons from non-canonical splicing

(2016) Christopher R. Sibley et al.   NATURE REVIEWS GENETICS

Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation

(2016) Maria R. Almeida et al.   NEUROBIOLOGY OF AGING

Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease

(2016) Jinlong Jian et al.   EBioMedicine

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

(2015) M. Coutelier et al.   NEUROLOGY

Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

(2014) Laura Canafoglia et al.   EPILEPSIA

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

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

(2013) K. R. Smith et al.   HUMAN MOLECULAR GENETICS

Progranulin Mutations as Risk Factors for Alzheimer Disease

(2013) David C. Perry et al.   JAMA Neurology

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

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

Human pathology in NCL

(2012) Glenn W. Anderson et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Progranulin deficiency promotes neuroinflammation and neuron loss following toxin-induced injury

(2012) Lauren Herl Martens et al.   JOURNAL OF CLINICAL INVESTIGATION

A harmonized classification system for FTLD-TDP pathology

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

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

(2011) Todor Arsov et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Katya Rascovsky et al.   BRAIN

Fronto-temporal lobar degeneration: neuropathology in 60 cases

(2011) Danielle Seilhean et al.   JOURNAL OF NEURAL TRANSMISSION

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

(2011) Edward B. Lee et al.   NATURE REVIEWS NEUROSCIENCE

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

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

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

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

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

(2010) W. Xin et al.   NEUROLOGY

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

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

(2009) N. Finch et al.   BRAIN

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

(2008) Isabelle Le Ber et al.   BRAIN

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

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

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide

(2008) Luisa Benussi et al.   NEUROBIOLOGY OF DISEASE

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration

(2008) R. Ghidoni et al.   NEUROLOGY