Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review

Neuronal ceroid lipofuscinosis type-11 in an adolescent

(2019) Mahesh Kamate et al.   BRAIN & DEVELOPMENT

An update on genetic frontotemporal dementia

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

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

(2019) Katrina M Moore et al.   LANCET NEUROLOGY

Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America

(2017) Emilia M. Gatto et al.   NEUROBIOLOGY OF AGING

RNA Misprocessing in C9orf72-Linked Neurodegeneration

(2017) Holly V. Barker et al.   Frontiers in Cellular Neuroscience

VEGF Haplotypes are Associated with Increased Risk to Progressive Supranuclear Palsy and Corticobasal Syndrome

(2017) Barbara Borroni et al.   JOURNAL OF ALZHEIMERS DISEASE

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

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

Parkinsonism, movement disorders and genetics in frontotemporal dementia

(2016) José Fidel Baizabal-Carvallo et al.   Nature Reviews Neurology

Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features

(2016) Celeste M. Karch et al.   NEUROBIOLOGY OF AGING

Novel GRN Mutations in Patients with Corticobasal Syndrome

(2016) Foad Taghdiri et al.   Scientific Reports

GBA-associated parkinsonism and dementia: beyond α-synucleinopathies?

(2015) A. Pilotto et al.   EUROPEAN JOURNAL OF NEUROLOGY

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

Mutation analysis of C9orf72 in patients with corticobasal syndrome

(2015) Cassandra J. Anor et al.   NEUROBIOLOGY OF AGING

The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

(2015) Lucia V. Schottlaender et al.   NEUROBIOLOGY OF AGING

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

(2015) Naomi Kouri et al.   Nature Communications

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

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

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

Familial Creutzfeldt–Jakob disease with M232R mutation presented with corticobasal syndrome

(2014) Jung Geol Lim et al.   NEUROLOGICAL SCIENCES

Corticobasal syndrome associated with antiphospholipid syndrome without cerebral infarction

(2014) D.-W. Lee et al.   NEUROLOGY

The Neurogenetics of Atypical Parkinsonian Disorders

(2014) Mary Clark et al.   SEMINARS IN NEUROLOGY

Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration

(2013) Naomi Kouri et al.   ACTA NEUROPATHOLOGICA

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

(2013) Suzanne Lesage et al.   BRAIN

Progranulin Peripheral Levels as a Screening Tool for the Identification of Subjects with Progranulin Mutations in a Portuguese Cohort

(2013) Maria Rosário Almeida et al.   Neurodegenerative Diseases

Criteria for the diagnosis of corticobasal degeneration

(2013) M. J. Armstrong et al.   NEUROLOGY

Exome sequencing in familial corticobasal degeneration

(2013) Robert Fekete et al.   PARKINSONISM & RELATED DISORDERS

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

(2012) Bradley F. Boeve et al.   BRAIN

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

(2012) J. L. Whitwell et al.   BRAIN

Corticobasal and ataxia syndromes widen the spectrum ofC9ORF72hexanucleotide expansion disease

(2012) SG Lindquist et al.   CLINICAL GENETICS

Phenotypic Variation of Autosomal-Dominant Corticobasal Degeneration

(2012) Hans H. Jung et al.   EUROPEAN NEUROLOGY

Atypical parkinsonism and cerebrotendinous xanthomatosis: Report of a family with corticobasal syndrome and a literature review

(2012) Ignacio Rubio-Agusti et al.   MOVEMENT DISORDERS

Sporadic Corticobasal Syndrome With Progranulin Mutation Presenting as Progressive Apraxic Agraphia

(2011) Victoria Passov et al.   ARCHIVES OF NEUROLOGY

Symmetrical Corticobasal Syndrome Caused by a Novel c.314dup Progranulin Mutation

(2011) Elise G. P. Dopper et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Progranulin and TDP-43: Mechanistic Links and Future Directions

(2011) Samir Kumar-Singh   JOURNAL OF MOLECULAR NEUROSCIENCE

Corticobasal degeneration: a pathologically distinct 4R tauopathy

(2011) Naomi Kouri et al.   Nature Reviews Neurology

FUS and TDP43 genetic variability in FTD and CBS

(2011) Edward D. Huey et al.   NEUROBIOLOGY OF AGING

A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration

(2011) Cinzia Coppola et al.   NEUROLOGICAL SCIENCES

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy

(2010) Gabor G. Kovacs et al.   ACTA NEUROPATHOLOGICA

The Spectrum of Mutations in Progranulin

(2010) Chang-En Yu et al.   ARCHIVES OF NEUROLOGY

H1/H1 genotype influences symptom severity in corticobasal syndrome

(2010) Irene Litvan et al.   MOVEMENT DISORDERS

Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review

(2010) Araceli Alonso-Canovas et al.   MOVEMENT DISORDERS

Novel L284R MAPT Mutation in a Family with an Autosomal Dominant Progressive Supranuclear Palsy Syndrome

(2010) Jonathan D. Rohrer et al.   Neurodegenerative Diseases

Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations

(2010) Jonathan D. Rohrer et al.   NEUROIMAGE

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

(2009) N. Finch et al.   BRAIN

Corticobasal syndrome associated with a novel 1048_1049insG progranulin mutation

(2009) J D Rohrer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2008) Isabelle Le Ber 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

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

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

Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases

(2008) Rita Joao Guerreiro et al.   MOVEMENT DISORDERS

The G389R mutation in theMAPTgene presenting as sporadic corticobasal syndrome

(2008) Giacomina Rossi et al.   MOVEMENT DISORDERS

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

(2008) Luisa Benussi et al.   NEUROBIOLOGY OF DISEASE

Prominent phenotypic variability associated with mutations in Progranulin

(2007) Brendan J. Kelley et al.   NEUROBIOLOGY OF AGING

A novel deletion in progranulin gene is associated with FTDP-17 and CBS

(2006) Luisa Benussi et al.   NEUROBIOLOGY OF AGING